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 UPF3A 65110 broad.mit.edu 37 13 115047559 115047559 + Silent SNP C C T TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr13:115047559C>T ENST00000375299.3 + 2 327 c.271C>T c.(271-273)Ctg>Ttg p.L91L UPF3A_ENST00000351487.5_Silent_p.L91L NM_023011.3 NP_075387.1 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A (yeast) 91 Required for interaction with UPF2. mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding p.L91L(8) autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 16 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) GCTGCGCCCGCTGCCAGCACA 0.731000 4 20 0 0 1 0 0 OR6Q1 219952 broad.mit.edu 37 11 57799202 57799202 + Missense_Mutation SNP T T C TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr11:57799202T>C ENST00000302622.3 + 1 801 c.778T>C c.(778-780)Ttc>Ctc p.F260L OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) TGGCACTCTTTTCTTTATGTA 0.517000 6 265 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178922340 178922340 + Missense_Mutation SNP A A G TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr3:178922340A>G ENST00000263967.3 + 6 1266 c.1109A>G c.(1108-1110)aAt>aGt p.N370S NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 370 C2 PI3K-type. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TTATGTGACAATGTGAACACT 0.333000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 5 292 0 0 1 0 0 NBEAL1 65065 broad.mit.edu 37 2 204066361 204066361 + Missense_Mutation SNP C C T TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr2:204066361C>T ENST00000449802.1 + 49 7580 c.7247C>T c.(7246-7248)gCt>gTt p.A2416V NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 2416 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 CTCTTCAGTGCTGGATACTGG 0.398000 4 213 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38464075 38464075 + Missense_Mutation SNP G G T TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr5:38464075G>T ENST00000322350.5 + 22 3363 c.3017G>T c.(3016-3018)tGt>tTt p.C1006F EGFLAM_ENST00000354891.3_Missense_Mutation_p.C1014F|EGFLAM_ENST00000336740.6_Missense_Mutation_p.C772F|EGFLAM_ENST00000397210.3_Missense_Mutation_p.C149F|EGFLAM_ENST00000506135.1_Missense_Mutation_p.C149F|EGFLAM_ENST00000514476.1_Missense_Mutation_p.C149F|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000397202.2_Missense_Mutation_p.C372F NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 1014 Laminin G-like 3. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) ATCAACACTTGTGGAGCCAAG 0.537000 46 72 3.39706e-21 3.80267e-21 1 1 0 IRX5 10265 broad.mit.edu 37 16 54967008 54967008 + Silent SNP G G A TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr16:54967008G>A ENST00000394636.4 + 3 1012 c.675G>A c.(673-675)gcG>gcA p.A225A IRX5_ENST00000320990.5_Silent_p.A224A|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Silent_p.A159A P78411 IRX5_HUMAN iroquois homeobox 5 225 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding kidney(3)|large_intestine(6)|lung(4)|prostate(1) 14 AGCAGAAGGCGGCTTCGGGCT 0.706000 18 14 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304896 102304896 + RNA SNP C C G rs145942024 by1000genomes TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr15:102304896C>G ENST00000561463.1 + 0 12942 GAAGACACTCCTGGAGGAGTC 0.562000 4 33 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178916876 178916876 + Missense_Mutation SNP G G A rs121913287 TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr3:178916876G>A ENST00000263967.3 + 2 420 c.263G>A c.(262-264)cGa>cAa p.R88Q NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 88 PI3K-ABD. R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.R88Q(53) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GAAACAAGACGACTTTGTGAC 0.363000 R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 55 117 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89457251 89457251 + Missense_Mutation SNP G G A TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr3:89457251G>A ENST00000336596.2 + 9 1957 c.1732G>A c.(1732-1734)Gaa>Aaa p.E578K EPHA3_ENST00000494014.1_Missense_Mutation_p.E578K NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 578 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TGGGGCAGATGAAAAAAGACT 0.353000 TSP Lung(6;0.00050) 98 164 0 0 1 0 0 RBBP6 5930 broad.mit.edu 37 16 24582966 24582966 + Missense_Mutation SNP G G A TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr16:24582966G>A ENST00000319715.4 + 18 5011 c.4579G>A c.(4579-4581)Gga>Aga p.G1527R RBBP6_ENST00000381039.3_Missense_Mutation_p.G687R|RBBP6_ENST00000348022.2_Missense_Mutation_p.G1493R NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 1527 Interaction with p53 (By similarity). protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) AAAAGGAACAGGAGATTCCAA 0.373000 32 52 0 0 1 0 0 PPBP 5473 broad.mit.edu 37 4 74853701 74853701 + Missense_Mutation SNP T T G TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr4:74853701T>G ENST00000296028.3 - 1 213 c.120A>C c.(118-120)caA>caC p.Q40H NM_002704.3 NP_002695.1 P02775 CXCL7_HUMAN pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) 40 chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division extracellular space|platelet alpha granule lumen chemokine activity|glucose transmembrane transporter activity|growth factor activity breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2) 10 Breast(15;0.00136) all cancers(17;0.00273)|Lung(101;0.196) TTCTCTTAGTTTGTCCTTTGG 0.527000 52 73 0 0 1 0 0 PA2G4 5036 broad.mit.edu 37 12 56505011 56505011 + Missense_Mutation SNP A A G TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr12:56505011A>G ENST00000303305.6 + 11 1402 c.983A>G c.(982-984)aAt>aGt p.N328S RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron NM_006191.2 NP_006182.2 Q9UQ80 PA2G4_HUMAN proliferation-associated 2G4, 38kDa 328 Necessary for nucleolar localization. cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing cytoplasm|nucleolus|ribonucleoprotein complex DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(18;0.0739) CTCATGCCCAATGGCCCCATG 0.433000 69 165 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237791209 237791209 + Missense_Mutation SNP G G A TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr1:237791209G>A ENST00000366574.2 + 41 6586 c.6269G>A c.(6268-6270)cGg>cAg p.R2090Q RYR2_ENST00000360064.6_Missense_Mutation_p.R2088Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R2074Q NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2090 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.R2088Q(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTGCTCCATCGGCAGTATGAC 0.557000 9 64 0 0 1 0 0 MAGEA6 4105 broad.mit.edu 37 X 151870087 151870087 + Silent SNP G G T rs79585035 TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chrX:151870087G>T ENST00000329342.5 + 3 1002 c.777G>T c.(775-777)cgG>cgT p.R259R NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 259 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TGGAGTACCGGCAGGTCCCCG 0.522000 182 337 3.86445e-50 4.45898e-50 1 1 0 CCDC60 160777 broad.mit.edu 37 12 119909928 119909928 + Silent SNP C C T TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr12:119909928C>T ENST00000327554.2 + 3 765 c.300C>T c.(298-300)gcC>gcT p.A100A RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 100 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) TCCAGCCAGCCGAAAAGATCT 0.423000 102 249 0 0 1 0 0 MICAL1 64780 broad.mit.edu 37 6 109766001 109766001 + Splice_Site SNP C C T TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr6:109766001C>T ENST00000368952.4 - 24 3329 c.3038_splice c.e24-1 p.T1013_splice MICAL1_ENST00000358807.3_Splice_Site_p.T994_splice|MICAL1_ENST00000358577.3_Splice_Site_p.T908_splice Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 994 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) ATTCCTGCACCCTGTGGAGGT 0.577000 5 155 0 0 1 0 0 IGHA1 0 broad.mit.edu 37 14 106173865 106173865 + RNA SNP C C T TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr14:106173865C>T ENST00000390547.2 - 0 701 CCGACGGCGGCGGCAGCAGGT 0.682000 4 66 0 0 1 0 0 TSSK2 23617 broad.mit.edu 37 22 19119046 19119046 + Missense_Mutation SNP G G A TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr22:19119046G>A ENST00000399635.2 + 1 726 c.134G>A c.(133-135)cGc>cAc p.R45H DGCR14_ENST00000252137.6_3'UTR NM_053006.4 NP_443732.3 Q96PF2 TSSK2_HUMAN testis-specific serine kinase 2 45 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1) 11 Colorectal(54;0.0993) ATCATCGACCGCAAGAAAACA 0.488000 4 132 0 0 1 0 0 IGHA2 0 broad.mit.edu 37 14 106053634 106053634 + RNA SNP C C T TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr14:106053634C>T ENST00000390539.2 - 0 662 CCGACGGCGGCGGCAGCAGGT 0.677000 13 32 0 0 1 0 0 CENPJ 55835 broad.mit.edu 37 13 25487066 25487066 + Missense_Mutation SNP C C T TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr13:25487066C>T ENST00000381884.4 - 2 283 c.98G>A c.(97-99)cGt>cAt p.R33H CENPJ_ENST00000545981.1_Missense_Mutation_p.R33H NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 33 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) AGGAAATCCACGATTTAATAT 0.448000 4 162 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131222116 131222116 + Silent SNP C C T TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr6:131222116C>T ENST00000337057.3 - 7 1315 c.1134G>A c.(1132-1134)ctG>ctA p.L378L EPB41L2_ENST00000527659.1_Silent_p.L378L|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000527411.1_Silent_p.L378L|EPB41L2_ENST00000528282.1_Silent_p.L378L|EPB41L2_ENST00000445890.2_Silent_p.L378L|EPB41L2_ENST00000525271.1_Silent_p.L378L|EPB41L2_ENST00000529208.1_Silent_p.L378L|EPB41L2_ENST00000530481.1_Silent_p.L378L|EPB41L2_ENST00000392427.3_Silent_p.L378L|EPB41L2_ENST00000525193.1_Silent_p.L378L|EPB41L2_ENST00000368128.2_Silent_p.L378L NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 378 FERM. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) GGGTTTTGTGCAGCTCTGCCA 0.473000 6 367 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139907686 139907686 + Silent SNP G G T TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr9:139907686G>T ENST00000265662.5 - 30 4782 c.4635C>A c.(4633-4635)ctC>ctA p.L1545L ABCA2_ENST00000341511.6_Silent_p.L1545L|ABCA2_ENST00000371605.3_Silent_p.L1544L Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1544 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CGGGAGACTTGAGCACGCAGG 0.701000 3 32 1 1 1 1 0 NLRC4 58484 broad.mit.edu 37 2 32476399 32476399 + Silent SNP C C A TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr2:32476399C>A ENST00000404025.2 - 5 1022 c.534G>T c.(532-534)ctG>ctT p.L178L NLRC4_ENST00000360906.5_Silent_p.L178L|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Silent_p.L178L Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 178 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TTCGCTGCAGCAGAGTGGACT 0.582000 5 126 5.18039e-06 5.55042e-06 1 1 0 GLI2 2736 broad.mit.edu 37 2 121712960 121712960 + Silent SNP C C A rs149502176 TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr2:121712960C>A ENST00000452319.1 + 5 657 c.597C>A c.(595-597)ggC>ggA p.G199G GLI2_ENST00000361492.4_Silent_p.G199G|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR P10070 GLI2_HUMAN GLI family zinc finger 2 199 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) AGAGCGGGGGCGCTGCCAGCG 0.667000 17 33 3.41278e-10 3.7641e-10 1 1 0 MUC4 4585 broad.mit.edu 37 3 195511937 195511937 + Missense_Mutation SNP C C T TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr3:195511937C>T ENST00000463781.3 - 2 6973 c.6514G>A c.(6514-6516)Ggt>Agt p.G2172S MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G2172S|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 951 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GTGGCGTGACCTGTGGATGCT 0.577000 5 4 0 0 1 0 0 CHRDL1 91851 broad.mit.edu 37 X 109931822 109931822 + Splice_Site SNP C C A TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chrX:109931822C>A ENST00000218054.4 - 9 1181 c.985_splice c.e9+1 p.E329_splice CHRDL1_ENST00000434224.1_Splice_Site_p.E250_splice|CHRDL1_ENST00000394797.4_Splice_Site_p.E329_splice|CHRDL1_ENST00000372042.1_Splice_Site_p.E330_splice|CHRDL1_ENST00000444321.2_Splice_Site_p.E329_splice|CHRDL1_ENST00000372045.1_Splice_Site_p.E323_splice|CHRDL1_ENST00000482160.1_Splice_Site_p.E250_splice NM_001143981.1|NM_001143982.1|NM_145234.3 NP_001137453.1|NP_001137454.1|NP_660277.2 Q9BU40 CRDL1_HUMAN chordin-like 1 323 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 ACCAACGCACCTTTTGCTTTT 0.413000 114 210 7.82854e-59 9.17407e-59 1 1 0 STC2 8614 broad.mit.edu 37 5 172745215 172745215 + Missense_Mutation SNP C C A TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr5:172745215C>A ENST00000265087.4 - 4 1853 c.544G>T c.(544-546)Ggg>Tgg p.G182W STC2_ENST00000520593.1_5'UTR NM_003714.2 NP_003705.1 O76061 STC2_HUMAN stanniocalcin 2 182 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3) 25 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) ACCTCCTCCCCACAGGTCAGC 0.552000 3 55 6.4e-05 6.76056e-05 1 1 0 CPEB4 80315 broad.mit.edu 37 5 173380277 173380277 + Missense_Mutation SNP T T C TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr5:173380277T>C ENST00000519835.1 + 7 2092 c.1889T>C c.(1888-1890)gTa>gCa p.V630A CPEB4_ENST00000265085.5_Splice_Site|CPEB4_ENST00000519467.1_Splice_Site|CPEB4_ENST00000522336.1_Splice_Site|CPEB4_ENST00000334035.5_Splice_Site|CPEB4_ENST00000517880.1_Splice_Site|CPEB4_ENST00000520867.1_Splice_Site Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding protein 4 655 RRM 2. nucleotide binding|RNA binding NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GATAAACGGGTAAGCCTTATA 0.403000 60 119 0 0 1 0 0 SORCS2 57537 broad.mit.edu 37 4 7668883 7668883 + Silent SNP C C A TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr4:7668883C>A ENST00000507866.2 + 8 1213 c.1104C>A c.(1102-1104)gtC>gtA p.V368V SORCS2_ENST00000329016.9_Silent_p.V196V NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 368 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 AATACTACGTCTCTTATCGTC 0.483000 46 309 1.89013e-27 2.14787e-27 1 1 0 CIC 23152 broad.mit.edu 37 19 42791757 42791757 + Missense_Mutation SNP C C T TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr19:42791757C>T ENST00000572681.2 + 6 3438 c.3370C>T c.(3370-3372)Cgg>Tgg p.R1124W CIC_ENST00000575354.2_Missense_Mutation_p.R215W|CIC_ENST00000160740.3_Missense_Mutation_p.R215W Q96RK0 CIC_HUMAN capicua transcriptional repressor 215 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.R215W(4) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CAAGCGGCACCGGGCCCTGGT 0.612000 """Mis, F, S""" oligodendroglioma 47 34 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195516065 195516065 + Nonsense_Mutation SNP G G A TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr3:195516065G>A ENST00000463781.3 - 2 2845 c.2386C>T c.(2386-2388)Cga>Tga p.R796* MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.R796*|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 801 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGTGGTTCGTGACCCTGAG 0.602000 69 151 0 0 1 0 0 ARRDC5 645432 broad.mit.edu 37 19 4896810 4896810 + Missense_Mutation SNP C C T TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr19:4896810C>T ENST00000381781.2 - 2 373 c.374G>A c.(373-375)aGc>aAc p.S125N NM_001080523.1 NP_001073992.1 A6NEK1 ARRD5_HUMAN arrestin domain containing 5 125 signal transduction endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) GCCAAATTTGCTGGTGAAGGT 0.448000 5 196 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 55 130 0 0 1 0 0 HTR3A 3359 broad.mit.edu 37 11 113857403 113857403 + Missense_Mutation SNP T T G TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr11:113857403T>G ENST00000504030.2 + 7 1314 c.869T>G c.(868-870)aTc>aGc p.I290S HTR3A_ENST00000506841.2_Missense_Mutation_p.I290S|HTR3A_ENST00000299961.5_Missense_Mutation_p.I275S|HTR3A_ENST00000375498.2_Missense_Mutation_p.I296S|HTR3A_ENST00000535865.1_Missense_Mutation_p.I34S|HTR3A_ENST00000355556.2_Missense_Mutation_p.I296S P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 290 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) TTCCTGATCATCGTTTCTGAC 0.592000 5 171 0 0 1 0 0 TRAIP 10293 broad.mit.edu 37 3 49881320 49881320 + Missense_Mutation SNP G G A TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr3:49881320G>A ENST00000331456.2 - 5 435 c.322C>T c.(322-324)Cgg>Tgg p.R108W TRAIP_ENST00000473863.1_5'UTR|TRAIP_ENST00000469027.1_Intron NM_005879.2 NP_005870.2 Q9BWF2 TRAIP_HUMAN TRAF interacting protein 108 cell proliferation|induction of apoptosis perinuclear region of cytoplasm protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AGCGTATCCCGCAGAGTGTCG 0.562000 5 215 0 0 1 0 0 CPEB2 132864 broad.mit.edu 37 4 15055831 15055831 + Silent SNP T T C TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr4:15055831T>C ENST00000538197.1 + 8 2451 c.2451T>C c.(2449-2451)ttT>ttC p.F817F CPEB2_ENST00000259997.5_Silent_p.F380F|CPEB2_ENST00000541112.1_Silent_p.F809F|CPEB2_ENST00000442003.2_Silent_p.F790F|CPEB2_ENST00000382395.3_Silent_p.F350F|CPEB2_ENST00000507071.1_Silent_p.F372F|CPEB2_ENST00000382401.3_Silent_p.F345F|RP11-665G4.1_ENST00000502344.1_RNA|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000345451.3_Silent_p.F342F NM_001177382.1 NP_001170853.1 Q7Z5Q1 CPEB2_HUMAN cytoplasmic polyadenylation element binding protein 2 372 regulation of translation cytoplasm nucleotide binding|RNA binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3) 14 AGTCCTATTTTCCACCAAAAG 0.343000 112 203 0 0 1 0 0 ASAH1 427 broad.mit.edu 37 8 17919903 17919903 + Missense_Mutation SNP A A G TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr8:17919903A>G ENST00000262097.6 - 8 844 c.533T>C c.(532-534)aTa>aCa p.I178T ASAH1_ENST00000520781.1_Missense_Mutation_p.I153T|ASAH1_ENST00000314146.10_Missense_Mutation_p.I172T|ASAH1_ENST00000417108.2_Missense_Mutation_p.I88T|ASAH1_ENST00000381733.4_Missense_Mutation_p.I194T NM_177924.3 NP_808592.2 Q13510 ASAH1_HUMAN N-acylsphingosine amidohydrolase (acid ceramidase) 1 178 ceramide metabolic process lysosome ceramidase activity breast(1)|endometrium(2)|large_intestine(4)|lung(2) 9 Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228) TTGCTCAGTTATGACCCAGGT 0.373000 71 136 0 0 1 0 0 LRGUK 136332 broad.mit.edu 37 7 133886296 133886296 + Missense_Mutation SNP A A G TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr7:133886296A>G ENST00000285928.2 + 15 1880 c.1811A>G c.(1810-1812)gAg>gGg p.E604G NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 604 ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 GGATTGACTGAGGAACCTGCC 0.388000 50 85 0 0 1 0 0 ITGB6 3694 broad.mit.edu 37 2 161052897 161052897 + Missense_Mutation SNP C C T TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr2:161052897C>T ENST00000283249.2 - 3 413 c.176G>A c.(175-177)tGt>tAt p.C59Y ITGB6_ENST00000428609.2_Missense_Mutation_p.C17Y|ITGB6_ENST00000409872.1_Missense_Mutation_p.C59Y|ITGB6_ENST00000409967.2_Missense_Mutation_p.C59Y|ITGB6_ENST00000485635.1_5'UTR P18564 ITB6_HUMAN integrin, beta 6 59 cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 TGGGGTATCACACCTTTCGCC 0.328000 106 223 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26239776 26239776 + Missense_Mutation SNP C C T rs34356798 TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr22:26239776C>T ENST00000335473.7 + 18 3533 c.3283C>T c.(3283-3285)Cgg>Tgg p.R1095W MYO18B_ENST00000407587.2_Missense_Mutation_p.R1096W|MYO18B_ENST00000536101.1_Missense_Mutation_p.R1095W NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1095 Myosin head-like. R -> L (in a lung adenocarcinoma sample; somatic mutation). nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GGACCCTGTGCGGTACGACCT 0.612000 4 178 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 732477 732477 + Silent SNP G G A TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr9:732477G>A ENST00000382303.1 + 10 3757 c.3105G>A c.(3103-3105)gaG>gaA p.E1035E KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.E1035E 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 5 251 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79296998 79296998 + Missense_Mutation SNP G G C TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr4:79296998G>C ENST00000264895.6 + 26 3697 c.3257G>C c.(3256-3258)gGc>gCc p.G1086A FRAS1_ENST00000325942.6_Missense_Mutation_p.G1086A NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1085 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TGTGTTCCTGGCTTTTCTGTC 0.478000 21 43 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.532000 T MLL ALL 6 136 0 0 1 0 0 SAMSN1 64092 broad.mit.edu 37 21 15882705 15882705 + Missense_Mutation SNP G G A TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr21:15882705G>A ENST00000285670.2 - 6 865 c.691C>T c.(691-693)Cca>Tca p.P231S SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Missense_Mutation_p.P163S NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 163 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) CCACAGAATGGTCCTGAATAG 0.502000 15 166 0 0 1 0 0 CSF3R 1441 broad.mit.edu 37 1 36932096 36932096 + Nonsense_Mutation SNP C C T TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr1:36932096C>T ENST00000373103.1 - 17 3001 c.2454G>A c.(2452-2454)tgG>tgA p.W818* CSF3R_ENST00000361632.4_Nonsense_Mutation_p.W791*|CSF3R_ENST00000440588.2_Nonsense_Mutation_p.W818*|CSF3R_ENST00000373104.1_Intron|CSF3R_ENST00000418048.2_Nonsense_Mutation_p.W791*|CSF3R_ENST00000373106.1_Nonsense_Mutation_p.W791*|CSF3R_ENST00000331941.5_Intron|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Missense_Mutation_p.G760D NM_156039.3 NP_724781.1 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor (granulocyte) 791 cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TGGCCTGGAACCAGAGGTTCT 0.657000 4 23 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153864692 153864692 + Silent SNP A A G TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr4:153864692A>G ENST00000511601.1 + 2 671 c.483A>G c.(481-483)agA>agG p.R161R FHDC1_ENST00000260008.3_Silent_p.R161R Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 161 FH2. actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) CATCCTTCAGAGAAGCTCGAG 0.428000 51 84 0 0 1 0 0 FAM183B 340286 broad.mit.edu 37 7 38725296 38725296 + Missense_Mutation SNP G G A TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr7:38725296G>A ENST00000409072.3 - 2 1244 c.310C>T c.(310-312)Cgc>Tgc p.R104C family with sequence similarity 183, member B endometrium(1)|lung(7) 8 TGGTCACGGCGTTCTGGGTCG 0.527000 18 399 0 0 1 0 0 PNCK 139728 broad.mit.edu 37 X 152938703 152938703 + Missense_Mutation SNP C C A TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chrX:152938703C>A ENST00000370145.4 - 1 40 c.23G>T c.(22-24)gGc>gTc p.G8V PNCK_ENST00000447676.2_Intron|PNCK_ENST00000475172.1_Intron|PNCK_ENST00000340888.3_Intron|PNCK_ENST00000393831.2_Intron|PNCK_ENST00000370142.1_Intron|PNCK_ENST00000370150.1_Intron NM_001135740.1 NP_001129212.1 Q6P2M8 KCC1B_HUMAN pregnancy up-regulated nonubiquitous CaM kinase 0 cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|lung(3)|skin(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCCAGCGAGGCCACCGCATAC 0.716000 13 26 1.3612e-06 1.47957e-06 1 1 0 LRP2 4036 broad.mit.edu 37 2 170093674 170093674 + Missense_Mutation SNP T T C TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr2:170093674T>C ENST00000263816.3 - 28 4915 c.4630A>G c.(4630-4632)Act>Gct p.T1544A NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1544 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ATCAGCACAGTCCTGTGGCTC 0.378000 95 156 0 0 1 0 0 ABI3BP 25890 broad.mit.edu 37 3 100527058 100527058 + Missense_Mutation SNP G G A TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr3:100527058G>A ENST00000471714.1 - 50 3759 c.3650C>T c.(3649-3651)gCt>gTt p.A1217V ABI3BP_ENST00000383691.4_Missense_Mutation_p.A494V|ABI3BP_ENST00000284322.5_Missense_Mutation_p.A540V Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 540 extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 CTTAGGAGGAGCACGTGGTGT 0.428000 17 32 0 0 1 0 0 CDC37 11140 broad.mit.edu 37 19 10505756 10505756 + Missense_Mutation SNP C C T TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr19:10505756C>T ENST00000222005.2 - 5 720 c.667G>A c.(667-669)Gcc>Acc p.A223T NM_007065.3 NP_008996.1 Q16543 CDC37_HUMAN cell division cycle 37 223 protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway unfolded protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06) GBM - Glioblastoma multiforme(1328;0.0318) AGGCTCTTGGCCAGCTCCAGG 0.592000 4 174 0 0 1 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319252 21319252 + Missense_Mutation SNP G G A TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr17:21319252G>A ENST00000583088.1 + 3 1493 c.598G>A c.(598-600)Gcc>Acc p.A200T KCNJ12_ENST00000331718.5_Missense_Mutation_p.A200T NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) CAGCCACAACGCCGTGGTGGC 0.612000 Prostate(3;0.18) 18 101 0 0 1 0 0 SETDB1 9869 broad.mit.edu 37 1 150916431 150916431 + Missense_Mutation SNP A A G TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr1:150916431A>G ENST00000271640.5 + 8 1101 c.911A>G c.(910-912)tAt>tGt p.Y304C SETDB1_ENST00000368962.2_Missense_Mutation_p.Y304C|SETDB1_ENST00000368963.1_Missense_Mutation_p.237_237insV|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.Y304C NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 304 Tudor 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding p.Y304C(1) NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) TATGCTTCCTATGTCACACAG 0.408000 68 128 0 0 1 0 0 SRSF3 6428 broad.mit.edu 37 6 36564571 36564571 + Missense_Mutation SNP A A G TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr6:36564571A>G ENST00000373715.6 + 2 148 c.32A>G c.(31-33)aAg>aGg p.K11R SRSF3_ENST00000339436.7_Missense_Mutation_p.K11R NM_003017.4 NP_003008.1 P84103 SRSF3_HUMAN serine/arginine-rich splicing factor 3 11 RRM. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2) 7 TTGGACTGTAAGGTTTATGTA 0.398000 123 230 0 0 1 0 0 PRELP 5549 broad.mit.edu 37 1 203452722 203452722 + Missense_Mutation SNP G G A TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr1:203452722G>A ENST00000343110.2 + 2 537 c.410G>A c.(409-411)cGa>cAa p.R137Q NM_002725.3|NM_201348.1 NP_002716.1|NP_958505.1 P51888 PRELP_HUMAN proline/arginine-rich end leucine-rich repeat protein 137 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 BRCA - Breast invasive adenocarcinoma(75;0.109) GACAACAACCGAATCCGCAAG 0.552000 4 174 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752635 62752635 + RNA SNP G G T TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr7:62752635G>T ENST00000331425.6 - 0 800 NR_003952.1 GCGCCTAAAGGCTTGGCCACA 0.458000 5 142 0.0293803 0.0297774 1 1 0 TIMD4 91937 broad.mit.edu 37 5 156378598 156378598 + Missense_Mutation SNP G G A TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr5:156378598G>A ENST00000274532.2 - 3 660 c.604C>T c.(604-606)Cca>Tca p.P202S TIMD4_ENST00000407087.3_Missense_Mutation_p.P202S NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 202 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGGGTGCTTGGGGTTAGTGAA 0.537000 64 133 0 0 1 0 0 XIST 0 broad.mit.edu 37 X 73063859 73063859 + RNA SNP G G A TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chrX:73063859G>A ENST00000429829.1 - 0 8729 NR_001564.2 AGAAGTGATAGGGTTGTGGAC 0.413000 32 60 0 0 1 0 0 SH2D2A 9047 broad.mit.edu 37 1 156784873 156784873 + Silent SNP C C T TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr1:156784873C>T ENST00000392306.2 - 3 403 c.264G>A c.(262-264)caG>caA p.Q88Q SH2D2A_ENST00000495306.1_5'UTR|SH2D2A_ENST00000368199.3_Silent_p.Q88Q|SH2D2A_ENST00000368198.3_Silent_p.Q70Q NM_001161441.1 NP_001154913.1 Q9NP31 SH22A_HUMAN SH2 domain containing 2A 88 angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|large_intestine(2)|lung(15) 18 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTGCCCCGTGCTGCAGGAGCC 0.642000 3 39 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151164884 151164884 + Missense_Mutation SNP C C T TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr3:151164884C>T ENST00000282466.3 - 4 2884 c.2885G>A c.(2884-2886)aGt>aAt p.S962N NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 962 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCTGGGTTCACTCACTTCTCT 0.408000 82 173 0 0 1 0 0 SERPINE1 5054 broad.mit.edu 37 7 100779027 100779027 + Silent SNP G G A TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr7:100779027G>A ENST00000223095.4 + 7 1189 c.1032G>A c.(1030-1032)ctG>ctA p.L344L SERPINE1_ENST00000445463.2_Silent_p.L329L NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 344 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) CGCAGGCGCTGCAGAAAGTGA 0.572000 4 147 0 0 1 0 0 TRMT6 51605 broad.mit.edu 37 20 5927167 5927167 + Silent SNP G G A TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr20:5927167G>A ENST00000203001.2 - 2 271 c.141C>T c.(139-141)ttC>ttT p.F47F TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_5'UTR NM_015939.3 NP_057023.2 Q9UJA5 TRM6_HUMAN tRNA methyltransferase 6 homolog (S. cerevisiae) 47 regulation of translational initiation|tRNA processing nucleus protein binding|translation initiation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 15 ACTGTTTTTCGAAAGTTACTT 0.373000 43 80 0 0 1 0 0 RP11-782C8.2 0 broad.mit.edu 37 1 143189585 143189587 + RNA DEL TAA TAA - TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr1:143189585_143189587delTAA ENST00000412204.2 - 0 2449 RP11-782C8.3_ENST00000425124.1_lincRNA|RP11-782C8.1_ENST00000438000.1_lincRNA TTATCAGAGTTAATAAGAACGAG 0.251 5 11 --- --- --- --- SORBS2 8470 broad.mit.edu 37 4 186559269 186559269 + Frame_Shift_Del DEL C C - TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr4:186559269delC ENST00000393528.3 - 12 1607 c.870delG c.(868-870)tgfs p.W290fs SORBS2_ENST00000355634.5_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000431808.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron NM_003603.5 NP_003594.3 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 228 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) AGAATTTATACCAGGGCTCAT 0.383 92 187 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81070787 81070789 + In_Frame_Del DEL CTC CTC - TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr10:81070787_81070789delCTC ENST00000334512.5 + 24 3514_3516 c.2942_2944delCTC c.(2941-2946)gct>g p.AP981del ZMIZ1_ENST00000446377.2_Intron NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 981 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CACAGTGGGGCTCCTCCTCCTCC 0.635 7 324 --- --- --- --- IRX5 10265 broad.mit.edu 37 16 54967130 54967131 + Frame_Shift_Ins INS - - C TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr16:54967130_54967131insC ENST00000394636.4 + 3 1134_1135 c.797_798insC c.(796-798)gccfs p.A266fs IRX5_ENST00000320990.5_Frame_Shift_Ins_p.A265fs|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Frame_Shift_Ins_p.A200fs P78411 IRX5_HUMAN iroquois homeobox 5 266 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding kidney(3)|large_intestine(6)|lung(4)|prostate(1) 14 GCGCTGCAgggccccccccgca 0.792 2 4 --- --- --- --- ZFPM1 161882 broad.mit.edu 37 16 88600445 88600445 + Frame_Shift_Del DEL C C - TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chr16:88600445delC ENST00000319555.3 + 10 2401 c.2079delC c.(2077-2079)agfs p.S693fs NM_153813.2 NP_722520.2 Q8IX07 FOG1_HUMAN zinc finger protein, FOG family member 1 693 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|transcription factor binding|zinc ion binding central_nervous_system(1)|ovary(2)|urinary_tract(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0478) TCCGCTTCAGCCGCCACGAGA 0.761 2 4 --- --- --- --- SLC9B1P1 0 broad.mit.edu 37 Y 13501672 13501674 + In_Frame_Del DEL AAT AAT - TCGA-R8-A6MO-01A-11D-A33T-08 TCGA-R8-A6MO-10C-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b826e5b4-3335-4b3c-a545-dd13a17acb2b 17ee5ee3-a2a0-4756-84ce-f1190b597115 g.chrY:13501672_13501674delAAT ENST00000331172.6 - 4 534_536 c.535_537delATT c.(535-537)del p.I179del TCTTACCAACAATATTTGATTCA 0.241 5 8 --- --- --- ---