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 BVES 11149 broad.mit.edu 37 6 105573444 105573444 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:105573444C>T ENST00000314641.5 - 4 577 c.361G>A c.(361-363)Gaa>Aaa p.E121K BVES_ENST00000446408.2_Missense_Mutation_p.E121K|BVES_ENST00000336775.5_Missense_Mutation_p.E121K NM_001199563.1 NP_001186492.1 Q8NE79 POPD1_HUMAN blood vessel epicardial substance 121 epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1) 21 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) AGTTCCTTTTCAATCTTTACC 0.418000 20 65 0 0 1 0 0 TAF1 6872 broad.mit.edu 37 X 70607185 70607185 + Silent SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:70607185G>C ENST00000449580.1 + 15 2349 c.2298G>C c.(2296-2298)cgG>cgC p.R766R TAF1_ENST00000276072.3_Silent_p.R787R|TAF1_ENST00000373790.4_Silent_p.R766R|TAF1_ENST00000423759.1_Silent_p.R787R P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 766 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) TGATCATTCGGACAAGACAGG 0.393000 41 76 0 0 1 0 0 LRP8 7804 broad.mit.edu 37 1 53732281 53732281 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:53732281C>G ENST00000306052.6 - 9 1392 c.1291G>C c.(1291-1293)Gag>Cag p.E431Q LRP8_ENST00000347547.2_Missense_Mutation_p.E261Q|LRP8_ENST00000354412.3_Missense_Mutation_p.E302Q|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Missense_Mutation_p.E431Q NM_004631.4 NP_004622.2 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 431 cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 CTCCGCACCTCGTGCCGGTTG 0.552000 25 33 0 0 1 0 0 MYBPC2 4606 broad.mit.edu 37 19 50958429 50958429 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:50958429C>T ENST00000357701.5 + 19 2130 c.2079C>T c.(2077-2079)ttC>ttT p.F693F NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 693 Fibronectin type-III 1. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) TTGAGGTCTTCACAGAGACCA 0.552000 11 29 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21331013 21331013 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr18:21331013C>T ENST00000313654.9 + 5 1057 c.816C>T c.(814-816)ctC>ctT p.L272L LAMA3_ENST00000399516.3_Silent_p.L272L NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 272 Laminin N-terminal. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTGGACACCTCATCTCCAAAG 0.418000 38 92 0 0 1 0 0 MED13 9969 broad.mit.edu 37 17 60072632 60072632 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:60072632C>T ENST00000397786.2 - 10 2138 c.2062G>A c.(2062-2064)Gat>Aat p.D688N NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 688 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TGTTCTGCATCAGATGCTATT 0.333000 36 87 0 0 1 0 0 ZNF724P 440519 broad.mit.edu 37 19 23415058 23415058 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:23415058G>A ENST00000418100.1 - 2 158 c.41C>T c.(40-42)tCt>tTt p.S14F ZNF724P_ENST00000597037.1_Missense_Mutation_p.S14F endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 CTCCTCCACAGAGAATTCTAT 0.413000 40 113 0 0 1 0 0 TMED4 222068 broad.mit.edu 37 7 44620677 44620677 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:44620677G>A ENST00000481238.1 - 4 573 c.549C>T c.(547-549)ctC>ctT p.L183L TMED4_ENST00000457408.2_Intron|TMED4_ENST00000289577.5_Intron Q7Z7H5 TMED4_HUMAN transmembrane emp24 protein transport domain containing 4 0 positive regulation of I-kappaB kinase/NF-kappaB cascade|transport endoplasmic reticulum membrane|integral to membrane signal transducer activity breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 AAATTACAAGGAGATATGCAC 0.478000 13 36 0 0 1 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798826 55798826 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:55798826C>T ENST00000313555.1 + 1 932 c.932C>T c.(931-933)tCa>tTa p.S311L NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) ATTGGATATTCAAATGAATGG 0.284000 27 47 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130300620 130300620 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:130300620G>C ENST00000358511.6 + 8 3794 c.3763G>C c.(3763-3765)Gag>Cag p.E1255Q COL6A6_ENST00000453409.2_Missense_Mutation_p.E1255Q NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1255 Nonhelical region.|VWFA 7. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TCCCAAGTTTGAGATCTACAG 0.423000 43 66 0 0 1 0 0 INTS4 92105 broad.mit.edu 37 11 77632406 77632406 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:77632406G>A ENST00000534064.1 - 14 1778 c.1744C>T c.(1744-1746)Cat>Tat p.H582Y NM_033547.3 NP_291025.3 Q96HW7 INT4_HUMAN integrator complex subunit 4 582 snRNA processing integrator complex protein binding INTS4/GAB2(2) NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1) 32 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) GGAACAAGATGAGAAAGACTG 0.413000 10 239 0 0 1 0 0 PDE12 201626 broad.mit.edu 37 3 57543266 57543266 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:57543266G>A ENST00000311180.8 + 1 1263 c.1160G>A c.(1159-1161)cGa>cAa p.R387Q PDE12_ENST00000487257.1_Missense_Mutation_p.R387Q NM_177966.5 NP_808881.3 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 387 hydrolase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) ACTTTCTACCGAAAGTCTAAG 0.527000 23 30 0 0 1 0 0 CALR 811 broad.mit.edu 37 19 13051185 13051185 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:13051185G>A ENST00000316448.5 + 5 694 c.621G>A c.(619-621)aaG>aaA p.K207K NM_004343.3 NP_004334.1 P27797 CALR_HUMAN calreticulin 207 4 X approximate repeats.|P-domain. cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding kidney(1)|large_intestine(3)|lung(5)|ovary(1) 10 Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) CACCCAAGAAGATAAAGGATC 0.542000 29 21 0 0 1 0 0 LTBP3 4054 broad.mit.edu 37 11 65318931 65318931 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:65318931C>G ENST00000301873.5 - 10 1831 c.1563G>C c.(1561-1563)gaG>gaC p.E521D LTBP3_ENST00000536982.1_Missense_Mutation_p.E147D|LTBP3_ENST00000322147.4_Missense_Mutation_p.E521D NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 521 extracellular region calcium ion binding|growth factor binding p.E521D(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 GCACTGACCTCTCCTCACTCA 0.637000 8 26 0 0 1 0 0 CBLB 868 broad.mit.edu 37 3 105464872 105464872 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:105464872G>C ENST00000264122.4 - 6 1055 c.734C>G c.(733-735)tCt>tGt p.S245C CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000403724.1_Missense_Mutation_p.S245C|CBLB_ENST00000405772.1_Missense_Mutation_p.S245C|CBLB_ENST00000394027.3_Missense_Mutation_p.S267C NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 245 Cbl-PTB.|SH2-like. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 CCGCAAAATAGAGCCCCAAGG 0.313000 Mis S AML 20 48 0 0 1 0 0 EME1 146956 broad.mit.edu 37 17 48452684 48452684 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:48452684G>A ENST00000393271.2 + 2 197 c.115G>A c.(115-117)Gaa>Aaa p.E39K EME1_ENST00000338165.4_Missense_Mutation_p.E39K|EME1_ENST00000511648.2_Missense_Mutation_p.E39K NM_001166131.1 NP_001159603.1 Q96AY2 EME1_HUMAN essential meiotic structure-specific endonuclease 1 39 DNA recombination|DNA repair nucleolus DNA binding|endonuclease activity|metal ion binding|protein binding endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 19 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) GAGACAGCCTGAAAGGGAAGA 0.468000 Direct reversal of damage;Homologous recombination 20 38 0 0 1 0 0 TCEA2 6919 broad.mit.edu 37 20 62701763 62701763 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr20:62701763C>T ENST00000361317.2 + 8 1029 c.587C>T c.(586-588)tCa>tTa p.S196L TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000343484.5_Missense_Mutation_p.S223L NM_198723.1 NP_942016.1 Q15560 TCEA2_HUMAN transcription elongation factor A (SII), 2 223 TFIIS central. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent transcription elongation factor complex DNA binding|protein binding|translation elongation factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7) 12 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) GTGATGACCTCAGAGGTGAGC 0.627000 8 59 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5417591 5417591 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:5417591G>A ENST00000399537.4 - 6 2565 c.2217C>T c.(2215-2217)ctC>ctT p.L739L TNRC18_ENST00000430969.1_Silent_p.L739L O15417 TNC18_HUMAN trinucleotide repeat containing 18 739 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GCCGTGCCCCGAGCAGCCGTT 0.692000 12 33 0 0 1 0 0 KIF20B 9585 broad.mit.edu 37 10 91497594 91497594 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:91497594C>T ENST00000416354.1 + 20 3158 c.3086C>T c.(3085-3087)tCt>tTt p.S1029F KIF20B_ENST00000394289.2_Missense_Mutation_p.S999F|KIF20B_ENST00000371728.3_Missense_Mutation_p.S999F|KIF20B_ENST00000260753.4_Missense_Mutation_p.S959F|KIF20B_ENST00000478929.1_3'UTR Q96Q89 KI20B_HUMAN kinesin family member 20B 999 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 GATTCAGTTTCTCAGATTTCA 0.333000 37 80 0 0 1 0 0 SPTLC3 55304 broad.mit.edu 37 20 13145442 13145442 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr20:13145442G>A ENST00000399002.2 + 12 1861 c.1587G>A c.(1585-1587)ctG>ctA p.L529L NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 529 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) TCTTGCAACTGAAATATTCCC 0.428000 9 28 0 0 1 0 0 POLR2H 5437 broad.mit.edu 37 3 184084567 184084567 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:184084567C>G ENST00000456318.1 + 5 1363 c.314C>G c.(313-315)tCt>tGt p.S105C EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000443489.1_Intron|POLR2H_ENST00000429568.1_Missense_Mutation_p.S105C|POLR2H_ENST00000438240.1_Missense_Mutation_p.S69C|POLR2H_ENST00000430783.1_Intron|POLR2H_ENST00000452961.1_Missense_Mutation_p.S69C|POLR2H_ENST00000296223.3_Missense_Mutation_p.S105C NM_001278699.1 NP_001265628.1 P52434 RPAB3_HUMAN polymerase (RNA) II (DNA directed) polypeptide H 105 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex|nucleolus DNA-directed RNA polymerase activity|protein binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GATGAAACTTCTACTGAAGCA 0.413000 12 20 0 0 1 0 0 PIM2 11040 broad.mit.edu 37 X 48772314 48772314 + Missense_Mutation SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:48772314G>T ENST00000376509.4 - 4 767 c.578C>A c.(577-579)cCc>cAc p.P193H NM_006875.3 NP_006866.2 Q9P1W9 PIM2_HUMAN pim-2 oncogene 193 Protein kinase. anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus ATP binding|protein serine/threonine kinase activity lung(3)|stomach(1) 4 GTCAGTGTAGGGTTCATCATG 0.493000 9 13 0.000442599 0.000447039 1 1 0 PCBP1 5093 broad.mit.edu 37 2 70315647 70315647 + Missense_Mutation SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:70315647G>T ENST00000303577.5 + 1 1063 c.772G>T c.(772-774)Gcc>Tcc p.A258S PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA NM_006196.3 NP_006187.2 Q15365 PCBP1_HUMAN poly(rC) binding protein 1 258 nuclear mRNA splicing, via spliceosome cytoplasm|nucleoplasm|ribonucleoprotein complex protein binding|RNA binding|single-stranded DNA binding endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1) 12 GACCGGATTCGCCGGAATTGA 0.502000 21 44 9.57634e-11 1.00139e-10 1 1 0 ATP6V1G3 127124 broad.mit.edu 37 1 198505852 198505852 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:198505852G>C ENST00000309309.7 - 3 190 c.85C>G c.(85-87)Ctg>Gtg p.L29V ATP6V1G3_ENST00000281087.2_Intron|ATP6V1G3_ENST00000489986.1_Intron|ATP6V1G3_ENST00000367382.1_Intron|ATP6V1G3_ENST00000367381.1_Intron NM_133326.1 NP_579872.1 Q96LB4 VATG3_HUMAN ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 0 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex ATPase binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 7 AGTAGATGCAGAACTTACAGC 0.333000 66 98 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28277234 28277234 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:28277234C>T ENST00000354638.3 - 3 458 c.303G>A c.(301-303)ctG>ctA p.L101L OCA2_ENST00000353809.5_Silent_p.L101L|OCA2_ENST00000382996.2_Silent_p.L101L NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 101 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) AGGAATTCCTCAGCAAAGGAG 0.453000 Oculocutaneous Albinism 22 63 0 0 1 0 0 FKBP6 8468 broad.mit.edu 37 7 72744161 72744161 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:72744161C>T ENST00000252037.4 + 4 343 c.274C>T c.(274-276)Ctg>Ttg p.L92L FKBP6_ENST00000431982.2_Silent_p.L87L|FKBP6_ENST00000413573.2_Silent_p.L62L NM_003602.3 NP_003593.3 O75344 FKBP6_HUMAN FK506 binding protein 6, 36kDa 92 PPIase FKBP-type. protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 16 Lung NSC(55;0.0908)|all_lung(88;0.198) AGATATTACACTGTGGGGCAT 0.532000 3 41 0 0 1 0 0 TBC1D32 221322 broad.mit.edu 37 6 121433760 121433760 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:121433760G>A ENST00000275159.6 - 30 3337 c.3338C>T c.(3337-3339)tCt>tTt p.S1113F TBC1D32_ENST00000398212.2_Missense_Mutation_p.S1072F|TBC1D32_ENST00000398197.2_5'UTR TBC1 domain family, member 32 CATGAACAGAGAAGATACAAA 0.348000 18 35 0 0 1 0 0 AGPAT6 137964 broad.mit.edu 37 8 41466948 41466948 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:41466948G>C ENST00000396987.3 + 3 1106 c.179G>C c.(178-180)aGa>aCa p.R60T NM_178819.3 NP_848934.1 Q86UL3 GPAT4_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 6 60 acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction glycerol-3-phosphate O-acyltransferase activity endometrium(3)|kidney(2)|large_intestine(3)|lung(6) 14 Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147) GCTACCTTGAGAATGGAGCGA 0.498000 14 16 0 0 1 0 0 TRIP13 9319 broad.mit.edu 37 5 896858 896858 + Missense_Mutation SNP G G C rs149813610 TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr5:896858G>C ENST00000166345.3 + 3 693 c.337G>C c.(337-339)Gag>Cag p.E113Q NM_004237.3 NP_004228.1 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 113 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 18 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) TGAAAATCTGGAGGAAGAGAC 0.473000 17 43 0 0 1 0 0 TRAPPC8 22878 broad.mit.edu 37 18 29493399 29493399 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr18:29493399C>G ENST00000283351.4 - 5 1039 c.704G>C c.(703-705)cGa>cCa p.R235P TRAPPC8_ENST00000582513.1_Missense_Mutation_p.R235P|TRAPPC8_ENST00000582539.1_Missense_Mutation_p.R181P NM_014939.3 NP_055754 Q9Y2L5 TPPC8_HUMAN trafficking protein particle complex 8 235 ER to Golgi vesicle-mediated transport cis-Golgi network breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 ATCTGATGCTCGATTAGATGT 0.313000 24 47 0 0 1 0 0 TCP11L2 255394 broad.mit.edu 37 12 106704887 106704887 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:106704887G>C ENST00000546625.1 + 2 193 c.34G>C c.(34-36)Gag>Cag p.E12Q TCP11L2_ENST00000547153.1_Missense_Mutation_p.E12Q|TCP11L2_ENST00000299045.3_Missense_Mutation_p.E12Q Q8N4U5 T11L2_HUMAN t-complex 11, testis-specific-like 2 12 endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2) 15 GTGTGTGGGAGAGGACCAGCC 0.507000 10 58 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139163459 139163459 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:139163459C>T ENST00000395297.1 - 13 3429 c.3259G>A c.(3259-3261)Gaa>Aaa p.E1087K NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1087 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TCACTGACTTCCTCATCCAAC 0.463000 HNSCC(54;0.14) 4 35 0 0 1 0 0 ATP6V1G3 127124 broad.mit.edu 37 1 198492553 198492553 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:198492553C>T ENST00000367381.1 - 5 448 c.343G>A c.(343-345)Gaa>Aaa p.E115K ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.E109K|ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.E115K|ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.E109K Q96LB4 VATG3_HUMAN ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 109 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex ATPase binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 7 ACATGGATTTCTGGTTTCATG 0.398000 14 63 0 0 1 0 0 STRADB 55437 broad.mit.edu 37 2 202340361 202340361 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:202340361G>C ENST00000194530.3 + 7 809 c.444G>C c.(442-444)ttG>ttC p.L148F STRADB_ENST00000392249.2_Missense_Mutation_p.L148F NM_001206864.1|NM_018571.5 NP_001193793.1|NP_061041.2 Q9C0K7 STRAB_HUMAN STE20-related kinase adaptor beta 148 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|protein binding|protein kinase activity breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1) 13 GTCAACTCTTGAGGACCTATT 0.378000 41 80 0 0 1 0 0 CNTLN 54875 broad.mit.edu 37 9 17340840 17340840 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr9:17340840G>A ENST00000380647.3 + 11 1744 c.1660G>A c.(1660-1662)Gag>Aag p.E554K CNTLN_ENST00000425824.1_Missense_Mutation_p.E554K|CNTLN_ENST00000262360.5_Missense_Mutation_p.E554K Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 554 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) AGAAAATGATGAGCTAAGAGA 0.348000 51 22 0 0 1 0 0 EML4 27436 broad.mit.edu 37 2 42543133 42543133 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:42543133C>T ENST00000318522.5 + 18 2261 c.1999C>T c.(1999-2001)Cta>Tta p.L667L EML4_ENST00000401738.3_Silent_p.L678L|EML4_ENST00000453191.2_Intron|EML4_ENST00000402711.2_Silent_p.L609L NM_019063.3 NP_061936 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 667 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(543) NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 12 AACCAGAGATCTAGTTTCTAT 0.383000 T ALK NSCLC 28 67 0 0 1 0 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 159604002 159604002 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:159604002G>C ENST00000337808.6 + 4 1462 c.885G>C c.(883-885)caG>caC p.Q295H SCHIP1_ENST00000482804.1_Missense_Mutation_p.Q68H|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.Q282H|IQCJ-SCHIP1_ENST00000460298.1_Missense_Mutation_p.Q255H|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.Q371H|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.Q63H|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.Q344H|SCHIP1_ENST00000445224.2_Missense_Mutation_p.Q52H NM_001197107.1|NM_014575.3 NP_001184036.1|NP_055390.1 Q9P0W5 SCHI1_HUMAN 295 cytoplasm identical protein binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 CCAGACTGCAGAGTGGGATGA 0.443000 20 46 0 0 1 0 0 AGPAT6 137964 broad.mit.edu 37 8 41466953 41466953 + Nonsense_Mutation SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:41466953G>T ENST00000396987.3 + 3 1111 c.184G>T c.(184-186)Gag>Tag p.E62* NM_178819.3 NP_848934.1 Q86UL3 GPAT4_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 6 62 acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction glycerol-3-phosphate O-acyltransferase activity endometrium(3)|kidney(2)|large_intestine(3)|lung(6) 14 Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147) CTTGAGAATGGAGCGAGGAGC 0.493000 13 15 9.31168e-06 9.47158e-06 1 1 0 IPCEF1 26034 broad.mit.edu 37 6 154533943 154533943 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:154533943C>T ENST00000265198.4 - 9 650 c.495G>A c.(493-495)gaG>gaA p.E165E IPCEF1_ENST00000519344.1_Silent_p.E137E|IPCEF1_ENST00000367220.4_Silent_p.E166E|IPCEF1_ENST00000422970.2_Silent_p.E166E|IPCEF1_ENST00000519091.1_5'UTR|OPRM1_ENST00000337049.4_Intron NM_001130700.1|NM_015553.2 NP_001124172.1|NP_056368.1 interaction protein for cytohesin exchange factors 1 breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 12 GGGGTGGTGTCTCCGCAGCTA 0.423000 8 37 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47125551 47125551 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:47125551C>G ENST00000409792.3 - 12 5761 c.5719G>C c.(5719-5721)Gag>Cag p.E1907Q NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1907 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TCAAGATCCTCTTTGCCATCC 0.418000 """N, F, S, Mis""" clear cell renal carcinoma 31 198 0 0 1 0 0 FAM90A1 55138 broad.mit.edu 37 12 8376743 8376743 + Nonsense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:8376743C>T ENST00000538603.1 - 5 750 c.192G>A c.(190-192)tgG>tgA p.W64* FAM90A1_ENST00000307435.6_Nonsense_Mutation_p.W64* NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 64 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) GGGCTGCCTTCCAGCACTTCA 0.547000 27 161 0 0 1 0 0 SNX7 51375 broad.mit.edu 37 1 99225673 99225673 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:99225673G>C ENST00000370189.5 + 9 1361 c.997G>C c.(997-999)Gaa>Caa p.E333Q SNX7_ENST00000529992.1_Missense_Mutation_p.E393Q|SNX7_ENST00000306121.3_Missense_Mutation_p.E448Q Q9UNH6 SNX7_HUMAN sorting nexin 7 384 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 13 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) AGAAGCCTCTGAAGATAAACC 0.408000 8 42 0 0 1 0 0 PUM2 23369 broad.mit.edu 37 2 20508206 20508206 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:20508206C>T ENST00000361078.2 - 5 680 c.658G>A c.(658-660)Gaa>Aaa p.E220K PUM2_ENST00000319801.5_Missense_Mutation_p.E220K|PUM2_ENST00000403432.1_Missense_Mutation_p.E220K|PUM2_ENST00000338086.5_Missense_Mutation_p.E220K|PUM2_ENST00000536417.1_Missense_Mutation_p.E164K|PUM2_ENST00000420234.1_5'UTR Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 220 Interaction with SNAPIN. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTCTGAGTTTCAGGATTTGAA 0.448000 33 82 0 0 1 0 0 ZAK 51776 broad.mit.edu 37 2 174125822 174125822 + Missense_Mutation SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:174125822G>T ENST00000375213.3 + 18 1586 c.1508G>T c.(1507-1509)gGa>gTa p.G503V MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.G503V|MLK7-AS1_ENST00000423106.2_RNA NM_016653.2 NP_057737.2 TGGATTGTAGGAATAGCAAAA 0.408000 15 39 2.89027e-11 3.02862e-11 1 1 0 ADAMTSL1 92949 broad.mit.edu 37 9 18680332 18680332 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr9:18680332G>A ENST00000380548.4 + 11 1498 c.1159G>A c.(1159-1161)Gcg>Acg p.A387T ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.A387T|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.A387T|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.A370T NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 387 TSP type-1 2. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) CCCATGGACCGCGTGCTCCTC 0.602000 43 13 0 0 1 0 0 KIAA1328 57536 broad.mit.edu 37 18 34740319 34740319 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr18:34740319G>C ENST00000591619.1 + 8 2163 c.1377G>C c.(1375-1377)aaG>aaC p.K459N KIAA1328_ENST00000280020.5_Missense_Mutation_p.K463N|KIAA1328_ENST00000586135.1_Missense_Mutation_p.K215N|KIAA1328_ENST00000435985.2_Missense_Mutation_p.K215N|KIAA1328_ENST00000543923.1_Missense_Mutation_p.K355N Q86T90 K1328_HUMAN KIAA1328 463 central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 14 COAD - Colon adenocarcinoma(74;0.195) CATGTCAAAAGAAAGATACAT 0.438000 19 20 0 0 1 0 0 CLN5 1203 broad.mit.edu 37 13 77566169 77566169 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr13:77566169C>T ENST00000377453.3 + 1 1375 c.83C>T c.(82-84)cCg>cTg p.P28L NM_006493.2 NP_006484.1 O75503 CLN5_HUMAN ceroid-lipofuscinosis, neuronal 5 0 brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 16 Acute lymphoblastic leukemia(28;0.205) GBM - Glioblastoma multiforme(99;0.0503) CTGGCGGCTCCGCGCATGCTC 0.731000 3 11 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53576080 53576080 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:53576080G>A ENST00000342160.3 - 66 10332 c.9875C>T c.(9874-9876)gCa>gTa p.A3292V HUWE1_ENST00000262854.6_Missense_Mutation_p.A3292V Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 3292 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 GCCTAGGGCTGCATCCATGGA 0.537000 9 95 0 0 1 0 0 PCCB 5096 broad.mit.edu 37 3 136045706 136045706 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:136045706C>G ENST00000471595.1 + 11 1170 c.1152C>G c.(1150-1152)ttC>ttG p.F384L PCCB_ENST00000478469.1_Intron|PCCB_ENST00000469217.1_Missense_Mutation_p.F404L|PCCB_ENST00000483687.1_Missense_Mutation_p.F365L|PCCB_ENST00000466072.1_Missense_Mutation_p.F404L|PCCB_ENST00000468777.1_Missense_Mutation_p.F415L|PCCB_ENST00000482086.1_Missense_Mutation_p.F268L|PCCB_ENST00000490504.1_Missense_Mutation_p.F327L|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000251654.4_Missense_Mutation_p.F384L|PCCB_ENST00000462637.1_Missense_Mutation_p.F361L P05166 PCCB_HUMAN propionyl CoA carboxylase, beta polypeptide 384 Carboxyltransferase. fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 25 Biotin(DB00121)|L-Valine(DB00161) GTGATGCATTCAATATTCCAC 0.438000 47 117 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218683208 218683208 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:218683208G>A ENST00000171887.4 - 24 3987 c.3535C>T c.(3535-3537)Cag>Tag p.Q1179* TNS1_ENST00000430930.1_Nonsense_Mutation_p.Q1158*|TNS1_ENST00000419504.1_Nonsense_Mutation_p.Q1166* NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 1179 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TGGCGCGCCTGAGGGCTCCCA 0.637000 18 43 0 0 1 0 0 DOT1L 84444 broad.mit.edu 37 19 2180733 2180733 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:2180733C>T ENST00000398665.3 + 2 139 c.103C>T c.(103-105)Cat>Tat p.H35Y NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 35 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGATGCTGCTCATGAAATCAT 0.557000 22 19 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56357771 56357771 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:56357771G>A ENST00000370754.5 - 84 20417 c.20418C>T c.(20416-20418)ctC>ctT p.L6806L DST_ENST00000361203.3_Silent_p.L6517L|DST_ENST00000244364.6_Silent_p.L4214L|DST_ENST00000370788.2_Silent_p.L4431L|DST_ENST00000446842.2_Silent_p.L6302L|DST_ENST00000421834.2_Silent_p.L4540L|DST_ENST00000370769.4_Silent_p.L6628L|DST_ENST00000312431.6_3'UTR Q03001 DYST_HUMAN dystonin 6626 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TGTCCAAGATGAGACTTGGCC 0.403000 9 19 0 0 1 0 0 SERHL2 253190 broad.mit.edu 37 22 42962318 42962318 + Missense_Mutation SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr22:42962318C>A ENST00000327678.5 + 9 724 c.622C>A c.(622-624)Ctg>Atg p.L208M SERHL2_ENST00000335879.5_Missense_Mutation_p.L144M|RRP7B_ENST00000357802.2_RNA|SERHL2_ENST00000407614.4_Missense_Mutation_p.L28M|SERHL2_ENST00000340239.4_Intron NM_014509.3 NP_055324.2 Q9H4I8 SEHL2_HUMAN serine hydrolase-like 2 208 perinuclear region of cytoplasm|peroxisome hydrolase activity breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1) 8 AGGTCTGGTTCTGAACAGAGA 0.572000 35 47 2.91434e-09 3.01617e-09 1 1 0 SH3KBP1 30011 broad.mit.edu 37 X 19560282 19560282 + Silent SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:19560282G>T ENST00000397821.3 - 16 1943 c.1653C>A c.(1651-1653)ccC>ccA p.P551P SH3KBP1_ENST00000541422.1_Silent_p.P290P|SH3KBP1_ENST00000379716.1_Silent_p.P313P|SH3KBP1_ENST00000379698.4_Silent_p.P514P NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 551 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 TCCCCGGCTTGGGCGGCAGGG 0.637000 9 43 1.12685e-05 1.14274e-05 1 1 0 GREM2 64388 broad.mit.edu 37 1 240656456 240656456 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:240656456G>A ENST00000318160.4 - 2 586 c.320C>T c.(319-321)cCg>cTg p.P107L NM_022469.3 NP_071914.3 Q9H772 GREM2_HUMAN gremlin 2, DAN family BMP antagonist 107 CTCK. BMP signaling pathway extracellular space cytokine activity endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 10 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) CACGTGCCGCGGGATGTAGAA 0.667000 11 86 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41084104 41084104 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:41084104G>C ENST00000324545.8 + 40 7494 c.6861G>C c.(6859-6861)aaG>aaC p.K2287N USP9X_ENST00000378308.2_Missense_Mutation_p.K2287N NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 GTTATGTGAAGAAAATCATTG 0.393000 20 54 0 0 1 0 0 PHLPP2 23035 broad.mit.edu 37 16 71683616 71683616 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:71683616G>A ENST00000393524.2 - 17 3681 c.2948C>T c.(2947-2949)cCa>cTa p.P983L PHLPP2_ENST00000356272.3_Missense_Mutation_p.P1050L|PHLPP2_ENST00000567016.1_Missense_Mutation_p.P1085L|PHLPP2_ENST00000568954.1_Missense_Mutation_p.P1050L|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 1050 PP2C-like. cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 CACAGGACCTGGGAGGGTGAG 0.522000 41 189 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70333675 70333675 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:70333675C>T ENST00000373644.4 + 2 1789 c.1580C>T c.(1579-1581)tCa>tTa p.S527L NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 527 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 TTCCATGCTTCACTGGGTATA 0.493000 17 35 0 0 1 0 0 TBC1D32 221322 broad.mit.edu 37 6 121401953 121401953 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:121401953C>T ENST00000275159.6 - 33 3860 c.3861G>A c.(3859-3861)ctG>ctA p.L1287L TBC1D32_ENST00000398212.2_Silent_p.L1246L|TBC1D32_ENST00000398197.2_5'UTR TBC1 domain family, member 32 GCATGTCTCTCAGCAGCACTG 0.388000 38 55 0 0 1 0 0 SEMA3G 56920 broad.mit.edu 37 3 52475406 52475406 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:52475406G>A ENST00000231721.2 - 7 686 c.687C>T c.(685-687)gcC>gcT p.A229A NM_020163.1 NP_064548.1 Q9NS98 SEM3G_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 229 Sema. multicellular organismal development extracellular region|membrane receptor activity p.A229A(1) kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) GGATCCGGGCGGCCATCACAA 0.612000 10 25 0 0 1 0 0 ADAM11 4185 broad.mit.edu 37 17 42853498 42853498 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:42853498G>A ENST00000200557.6 + 18 1658 c.1489G>A c.(1489-1491)Gaa>Aaa p.E497K ADAM11_ENST00000535346.1_Missense_Mutation_p.E297K NM_002390.4 NP_002381.2 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 497 Disintegrin. integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) TCCCTAGTACGAACCACGGGG 0.701000 24 63 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216236649 216236649 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:216236649C>T ENST00000354785.4 - 40 7066 c.6697G>A c.(6697-6699)Gat>Aat p.D2233N FN1_ENST00000421182.1_Missense_Mutation_p.D1996N|FN1_ENST00000432072.2_Missense_Mutation_p.D2023N|FN1_ENST00000336916.4_Missense_Mutation_p.D2111N|FN1_ENST00000359671.1_Missense_Mutation_p.D2142N|FN1_ENST00000345488.5_Intron|FN1_ENST00000346544.3_Missense_Mutation_p.D2022N|FN1_ENST00000357009.2_Missense_Mutation_p.D2022N|FN1_ENST00000357867.4_Missense_Mutation_p.D1932N|FN1_ENST00000446046.1_Missense_Mutation_p.D2086N|FN1_ENST00000443816.1_Missense_Mutation_p.D2021N|FN1_ENST00000356005.4_Missense_Mutation_p.D2052N|FN1_ENST00000323926.6_Missense_Mutation_p.D2202N P02751 FINC_HUMAN fibronectin 1 2142 Fibrin-binding 2.|Fibronectin type-I 10. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTTCTTCATCAGTGCCAACA 0.453000 20 54 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78211488 78211488 + RNA SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:78211488G>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCTGCTCCTGGAGTCTCTGCT 0.587000 40 82 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157528023 157528023 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:157528023C>G ENST00000346085.5 + 20 5749 c.5748C>G c.(5746-5748)atC>atG p.I1916M ARID1B_ENST00000275248.4_Missense_Mutation_p.I1898M|ARID1B_ENST00000367148.1_Missense_Mutation_p.I1956M|ARID1B_ENST00000350026.5_Missense_Mutation_p.I1903M NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1903 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) ACCGGAACATCAAGCTGCTGG 0.587000 35 62 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37880257 37880257 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:37880257C>G ENST00000406381.2 + 21 2721 c.2211C>G c.(2209-2211)atC>atG p.I737M ERBB2_ENST00000540147.1_Missense_Mutation_p.I737M|ERBB2_ENST00000269571.5_Missense_Mutation_p.I767M|ERBB2_ENST00000541774.1_Missense_Mutation_p.I752M|ERBB2_ENST00000445658.2_Missense_Mutation_p.I491M|ERBB2_ENST00000584601.1_Missense_Mutation_p.I737M|ERBB2_ENST00000584450.1_Missense_Mutation_p.I767M NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 767 Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.I767M(2) NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) ACAAAGAAATCTTAGACGTAA 0.542000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 9 22 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76525741 76525741 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:76525741C>T ENST00000389840.5 - 22 3444 c.3320G>A c.(3319-3321)aGa>aAa p.R1107K DNAH17_ENST00000585328.1_Missense_Mutation_p.R1104K dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CAAGCCCATTCTGGCGACTTT 0.592000 4 44 0 0 1 0 0 NUP133 55746 broad.mit.edu 37 1 229586337 229586337 + Nonsense_Mutation SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:229586337C>A ENST00000261396.3 - 23 3206 c.3115G>T c.(3115-3117)Gaa>Taa p.E1039* NUP133_ENST00000537506.1_Nonsense_Mutation_p.E1023*|NUP133_ENST00000485119.1_5'UTR NM_018230.2 NP_060700.2 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 1039 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) CTTCTATTTTCTTCACAGATA 0.299000 19 133 9.7654e-05 9.88318e-05 1 1 0 TSIX 9383 broad.mit.edu 37 X 73042146 73042146 + RNA SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:73042146G>C ENST00000604411.1 + 0 30107 XIST_ENST00000429829.1_lincRNA NR_003255.2 GTAGTGGCCAGAGTGGTAGAA 0.413000 5 19 0 0 1 0 0 ZNF236 7776 broad.mit.edu 37 18 74649157 74649157 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr18:74649157C>T ENST00000253159.8 + 26 4832 c.4634C>T c.(4633-4635)tCt>tTt p.S1545F ZNF236_ENST00000320610.9_Missense_Mutation_p.S1547F NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 1545 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) ACACCGATGTCTCCATCGGCC 0.527000 31 19 0 0 1 0 0 TRAV19 28664 broad.mit.edu 37 14 22475835 22475835 + RNA SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr14:22475835C>T ENST00000390447.3 + 0 85 AGACGGAGCACGGAACATTTC 0.493000 3 7 0 0 1 0 0 NBPF14 25832 broad.mit.edu 37 1 148025826 148025826 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:148025826C>T ENST00000369219.1 - 1 22 c.6G>A c.(4-6)ctG>ctA p.L2L Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 2 cytoplasm NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) GCTCATTCCTCAGCATAGATT 0.537000 60 202 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361046 70361046 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr4:70361046G>A ENST00000305107.6 - 1 580 c.534C>T c.(532-534)taC>taT p.Y178Y UGT2B4_ENST00000512583.1_Silent_p.Y178Y|UGT2B4_ENST00000381096.3_Silent_p.Y42Y|UGT2B4_ENST00000506580.1_Intron NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 178 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 TTTCAATTGCGTAGCCAGGAG 0.453000 8 59 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55512138 55512138 + Missense_Mutation SNP G G C rs144393067 TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:55512138G>C ENST00000543010.1 + 13 3204 c.3061G>C c.(3061-3063)Gat>Cat p.D1021H NLRP2_ENST00000339757.7_Missense_Mutation_p.D999H|NLRP2_ENST00000427260.2_Missense_Mutation_p.D998H|NLRP2_ENST00000538819.1_Missense_Mutation_p.D997H|NLRP2_ENST00000263437.6_Missense_Mutation_p.D1018H|NLRP2_ENST00000537859.1_Missense_Mutation_p.D999H|NLRP2_ENST00000391721.4_Missense_Mutation_p.D997H|NLRP2_ENST00000448584.2_Missense_Mutation_p.D1021H NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 1021 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GTTGAAAATCGATGACTTTAA 0.393000 13 60 0 0 1 0 0 MSH4 4438 broad.mit.edu 37 1 76280745 76280745 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:76280745G>A ENST00000263187.3 + 5 843 c.739G>A c.(739-741)Gaa>Aaa p.E247K NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 247 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 ATACTTCAATGAAACAAAAGG 0.318000 Mismatch excision repair (MMR) 31 57 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21249665 21249665 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:21249665C>G ENST00000233242.1 - 15 2366 c.2239G>C c.(2239-2241)Gag>Cag p.E747Q APOB_ENST00000399256.4_Missense_Mutation_p.E747Q NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 747 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CACACCTGCTCATGTTTATCA 0.383000 16 48 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40400223 40400223 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:40400223C>G ENST00000338305.6 - 2 1172 c.630G>C c.(628-630)caG>caC p.Q210H NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 210 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) GGGGCAGCTTCTGCAGCCGAT 0.602000 18 34 0 0 1 0 0 AADACL4 343066 broad.mit.edu 37 1 12711208 12711208 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:12711208G>A ENST00000376221.1 + 2 235 c.235G>A c.(235-237)Gtg>Atg p.V79M NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 79 integral to membrane carboxylesterase activity p.V79M(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) ACATGATAGCGTGAGAATTAA 0.478000 14 91 0 0 1 0 0 NUSAP1 51203 broad.mit.edu 37 15 41657766 41657766 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:41657766C>G ENST00000260359.6 + 7 1046 c.782C>G c.(781-783)tCt>tGt p.S261C NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000450592.2_Missense_Mutation_p.S252C|NUSAP1_ENST00000560747.1_Missense_Mutation_p.S274C|NUSAP1_ENST00000560177.1_Missense_Mutation_p.S275C|NUSAP1_ENST00000450318.1_Missense_Mutation_p.S276C|NUSAP1_ENST00000414849.2_Missense_Mutation_p.S275C|NUSAP1_ENST00000559596.1_Missense_Mutation_p.S276C NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7 NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4 Q9BXS6 NUSAP_HUMAN nucleolar and spindle associated protein 1 276 Interaction with microtubules (By similarity). cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis chromosome|cytoplasm|nucleolus DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2) 13 all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168) TCTGCTATCTCTGCAGCTAAA 0.443000 6 7 0 0 1 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475034 140475034 + Silent SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr5:140475034G>C ENST00000194155.4 + 1 808 c.660G>C c.(658-660)ggG>ggC p.G220G NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 220 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TAGATGGCGGGAGTCCACCCA 0.557000 6 37 0 0 1 0 0 CARF 79800 broad.mit.edu 37 2 203817303 203817303 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:203817303G>A ENST00000402905.3 + 5 649 c.328G>A c.(328-330)Gaa>Aaa p.E110K CARF_ENST00000320443.8_Missense_Mutation_p.E110K|CARF_ENST00000444724.1_Missense_Mutation_p.E110K|CARF_ENST00000428585.1_Missense_Mutation_p.E34K|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000434998.1_Missense_Mutation_p.E8K|CARF_ENST00000438828.2_Missense_Mutation_p.E110K|CARF_ENST00000545253.1_Missense_Mutation_p.E22K|WDR12_ENST00000477723.1_Intron|CARF_ENST00000456821.2_Missense_Mutation_p.E98K|CARF_ENST00000414439.1_Missense_Mutation_p.E8K|CARF_ENST00000545262.1_Missense_Mutation_p.E34K NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1 NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1 calcium responsive transcription factor CAGCCCAACAGAAAATGGACA 0.373000 25 76 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86125001 86125001 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:86125001C>G ENST00000394518.2 + 7 3797 c.3702C>G c.(3700-3702)gtC>gtG p.V1234V AKAP13_ENST00000361243.2_Silent_p.V1234V NM_001270546.1|NM_007200.4 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 1234 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 CTTGCATGGTCTCTGCCCAGG 0.602000 10 20 0 0 1 0 0 TSC22D3 1831 broad.mit.edu 37 X 107018395 107018395 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:107018395G>C ENST00000372383.4 - 1 622 c.255C>G c.(253-255)atC>atG p.I85M TSC22D3_ENST00000514426.1_Missense_Mutation_p.I17M|TSC22D3_ENST00000372384.2_Missense_Mutation_p.I85M|TSC22D3_ENST00000506081.1_Missense_Mutation_p.I85M|TSC22D3_ENST00000315660.4_Missense_Mutation_p.I85M NM_198057.2 NP_932174.1 Q99576 T22D3_HUMAN TSC22 domain family, member 3 0 Leucine-zipper. sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2)|lung(3) 6 TGCCCTCGTTGATCAGGTAGC 0.577000 39 69 0 0 1 0 0 RELB 5971 broad.mit.edu 37 19 45540802 45540802 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:45540802C>G ENST00000221452.8 + 12 1644 c.1494C>G c.(1492-1494)ctC>ctG p.L498L RELB_ENST00000540120.1_Silent_p.L498L|RELB_ENST00000505236.1_Silent_p.L495L NM_006509.3 NP_006500.2 Q01201 RELB_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog B 498 nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1) 12 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00986) CCCCCACACTCTTCACCATGC 0.701000 23 18 0 0 1 0 0 GTDC1 79712 broad.mit.edu 37 2 144899508 144899508 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:144899508G>C ENST00000392869.2 - 5 614 c.462C>G c.(460-462)agC>agG p.S154R GTDC1_ENST00000409298.1_Missense_Mutation_p.S154R|GTDC1_ENST00000344850.4_Missense_Mutation_p.S154R|GTDC1_ENST00000409214.1_Missense_Mutation_p.S154R|GTDC1_ENST00000392867.3_Missense_Mutation_p.S154R|GTDC1_ENST00000463875.2_Missense_Mutation_p.S25R|GTDC1_ENST00000542155.1_Missense_Mutation_p.S154R|GTDC1_ENST00000241391.5_Missense_Mutation_p.S154R NM_001284234.1 NP_001271163.1 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 biosynthetic process transferase activity, transferring glycosyl groups central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.0914) GTCTGATGATGCTTTCCAGAT 0.383000 21 67 0 0 1 0 0 SPATA6 54558 broad.mit.edu 37 1 48865165 48865165 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:48865165G>A ENST00000371847.3 - 7 802 c.638C>T c.(637-639)tCa>tTa p.S213L SPATA6_ENST00000371843.3_Missense_Mutation_p.S213L|SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000396199.3_Missense_Mutation_p.S141L NM_019073.2 NP_061946.1 Q9NWH7 SPAT6_HUMAN spermatogenesis associated 6 213 cell differentiation|multicellular organismal development|spermatogenesis extracellular region breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 21 GTGTGATTTTGAAGAAATTGT 0.413000 55 135 0 0 1 0 0 CCT7 10574 broad.mit.edu 37 2 73474901 73474901 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:73474901G>A ENST00000539919.1 + 8 869 c.498G>A c.(496-498)ctG>ctA p.L166L CCT7_ENST00000537131.1_Silent_p.L110L|CCT7_ENST00000258091.5_Silent_p.L210L|CCT7_ENST00000540468.1_Silent_p.L123L|CCT7_ENST00000538797.1_Silent_p.L82L|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000398422.2_Silent_p.L6L NM_001166285.1 NP_001159757.1 Q99832 TCPH_HUMAN chaperonin containing TCP1, subunit 7 (eta) 210 'de novo' posttranslational protein folding ATP binding|unfolded protein binding breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1) 7 ATTCTCAGCTGGTAGCTGGTG 0.388000 12 17 0 0 1 0 0 ABCC5 10057 broad.mit.edu 37 3 183695342 183695342 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:183695342G>C ENST00000334444.6 - 10 1607 c.1367C>G c.(1366-1368)tCc>tGc p.S456C ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Missense_Mutation_p.S456C NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 456 ABC transmembrane type-1 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TTCTGAGAGGGACTTTACTGA 0.488000 9 44 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3112337 3112337 + Missense_Mutation SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr18:3112337G>T ENST00000356443.4 - 22 3710 c.3377C>A c.(3376-3378)cCa>cAa p.P1126Q MYOM1_ENST00000400569.3_Missense_Mutation_p.P1126Q|MYOM1_ENST00000261606.7_Missense_Mutation_p.P1030Q NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 1126 Fibronectin type-III 5. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 AAGGTCAGATGGCTTCCCAAC 0.517000 10 26 9.70103e-10 1.00607e-09 1 1 0 SCNN1A 6337 broad.mit.edu 37 12 6457896 6457896 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:6457896G>A ENST00000358945.3 - 12 2132 c.1692C>T c.(1690-1692)gtC>gtT p.V564V SCNN1A_ENST00000228916.2_Silent_p.V542V|SCNN1A_ENST00000360168.3_Silent_p.V601V|SCNN1A_ENST00000540037.1_Silent_p.V242V|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000543768.1_Silent_p.V565V P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit 542 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) GACCTACCGTGACAGAGGGAG 0.532000 23 40 0 0 1 0 0 VWCE 220001 broad.mit.edu 37 11 61036467 61036467 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:61036467C>G ENST00000335613.5 - 15 2195 c.1809G>C c.(1807-1809)aaG>aaC p.K603N VWCE_ENST00000535710.1_Missense_Mutation_p.K68N NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 603 VWFC 4. extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 AGTCTGTCCTCTTGCAGCTCA 0.632000 20 18 0 0 1 0 0 CD300LD 100131439 broad.mit.edu 37 17 72584701 72584701 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:72584701C>T ENST00000375352.1 - 2 408 c.328G>A c.(328-330)Gag>Aag p.E110K C17orf77_ENST00000392620.1_Intron NM_001115152.1 NP_001108624.1 Q6UXZ3 CLM4_HUMAN CD300 molecule-like family member d 110 Ig-like V-type. integral to membrane|plasma membrane receptor activity large_intestine(1)|lung(2)|prostate(1)|stomach(1) 5 CCAGGTCTCTCAGTCCCACAC 0.468000 28 61 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28916510 28916510 + Nonsense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr18:28916510C>G ENST00000257192.4 + 9 1411 c.1199C>G c.(1198-1200)tCa>tGa p.S400* NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 400 Cadherin 4. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) AATATGGGATCAAATGATAAA 0.388000 25 51 0 0 1 0 0 DISC1 27185 broad.mit.edu 37 1 232144764 232144764 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:232144764C>T ENST00000439617.2 + 11 2329 c.2276C>T c.(2275-2277)tCt>tTt p.S759F DISC1_ENST00000537876.1_3'UTR|DISC1_ENST00000427560.1_3'UTR|DISC1_ENST00000535983.1_3'UTR|DISC1_ENST00000366637.3_Intron NM_001164537.1|NM_001164540.1|NM_018662.2 NP_001158009.1|NP_001158012.1|NP_061132.2 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 759 Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) CTCATCCCCTCTCTGCACTGT 0.537000 4 54 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103124666 103124666 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:103124666C>G ENST00000295269.4 + 5 1784 c.1327C>G c.(1327-1329)Ctg>Gtg p.L443V NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 443 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 TTTGCTTCCTCTGTCTCTTTT 0.378000 10 34 0 0 1 0 0 NOVA2 4858 broad.mit.edu 37 19 46443426 46443426 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:46443426C>T ENST00000263257.5 - 4 1368 c.1174G>A c.(1174-1176)Ggg>Agg p.G392R NM_002516.2 NP_002507.1 Q9UNW9 NOVA2_HUMAN neuro-oncological ventral antigen 2 392 Ala-rich.|Gly-rich. nucleus RNA binding endometrium(3)|large_intestine(5)|lung(13) 21 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) AGGAAgcccccggccgccccg 0.776000 19 25 0 0 1 0 0 TDRD1 56165 broad.mit.edu 37 10 115962858 115962858 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:115962858G>A ENST00000251864.2 + 7 877 c.724G>A c.(724-726)Gaa>Aaa p.E242K TDRD1_ENST00000369280.1_Missense_Mutation_p.E242K|TDRD1_ENST00000369281.2_Missense_Mutation_p.E242K|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369282.1_Missense_Mutation_p.E242K NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 242 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) AGTTACTAAGGAAATAGCCAT 0.363000 16 31 0 0 1 0 0 SESTD1 91404 broad.mit.edu 37 2 179989213 179989213 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:179989213G>C ENST00000428443.3 - 11 1361 c.1045C>G c.(1045-1047)Ctt>Gtt p.L349V NM_178123.4 NP_835224.3 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 349 regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) AGTTCCACAAGATCTTCCTCA 0.408000 18 35 0 0 1 0 0 OR5A1 219982 broad.mit.edu 37 11 59210703 59210703 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:59210703C>G ENST00000302030.2 + 1 87 c.62C>G c.(61-63)aCa>aGa p.T21R NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 CTGGGATTCACAGACCATCCA 0.532000 20 51 0 0 1 0 0 PCMT1 5110 broad.mit.edu 37 6 150094290 150094290 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:150094290C>T ENST00000464889.1 + 3 635 c.351C>T c.(349-351)atC>atT p.I117I PCMT1_ENST00000367384.2_Silent_p.I117I|PCMT1_ENST00000544496.1_Silent_p.I24I|PCMT1_ENST00000367380.5_Silent_p.I59I|PCMT1_ENST00000367378.1_Silent_p.I117I protein-L-isoaspartate (D-aspartate) O-methyltransferase kidney(1)|large_intestine(2)|lung(4)|ovary(1) 8 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.221) OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207) AAGCAACAATCAGTGCTCCAC 0.308000 12 41 0 0 1 0 0 TINAGL1 64129 broad.mit.edu 37 1 32050798 32050798 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:32050798G>A ENST00000271064.7 + 8 980 c.904G>A c.(904-906)Gag>Aag p.E302K TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Missense_Mutation_p.E271K NM_001204415.1|NM_022164.2 NP_001191344.1|NP_071447.1 Q9GZM7 TINAL_HUMAN tubulointerstitial nephritis antigen-like 1 302 endosome transport|immune response|proteolysis extracellular region cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145) TGAACGAGACGAGGCTGGCCC 0.612000 14 136 0 0 1 0 0 PNMA2 10687 broad.mit.edu 37 8 26365224 26365224 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:26365224C>T ENST00000522362.2 - 3 1942 c.1048G>A c.(1048-1050)Gag>Aag p.E350K NM_007257.5 NP_009188.1 Q9UL42 PNMA2_HUMAN paraneoplastic Ma antigen 2 350 apoptosis nucleolus protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3) 11 all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105) UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123) TCTCGTTCCTCTGGCTCTTCG 0.537000 25 55 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61438989 61438989 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:61438989C>G ENST00000398571.2 - 69 8834 c.8758G>C c.(8758-8760)Gat>Cat p.D2920H USP34_ENST00000472689.1_5'UTR NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 2920 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) TGTTTAATATCTTCTAATTCT 0.363000 16 31 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50125513 50125513 + RNA SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:50125513C>T ENST00000376025.2 - 0 2697 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) CCTGGGTGTTCATCTCTTCTG 0.393000 22 28 0 0 1 0 0 ZNF432 9668 broad.mit.edu 37 19 52537404 52537404 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:52537404C>G ENST00000594154.1 - 5 1740 c.1528G>C c.(1528-1530)Gag>Cag p.E510Q ZNF432_ENST00000221315.5_Missense_Mutation_p.E510Q O94892 ZN432_HUMAN zinc finger protein 432 510 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 29 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) TACGGTTTCTCTCCAGTATGA 0.428000 11 80 0 0 1 0 0 COASY 80347 broad.mit.edu 37 17 40716490 40716490 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:40716490G>C ENST00000393818.2 + 3 1398 c.942G>C c.(940-942)caG>caC p.Q314H COASY_ENST00000449624.1_Missense_Mutation_p.Q19H|COASY_ENST00000590958.1_Missense_Mutation_p.Q343H|COASY_ENST00000420359.1_Missense_Mutation_p.Q314H|COASY_ENST00000421097.2_Missense_Mutation_p.Q314H NM_025233.6 NP_079509.5 Q13057 COASY_HUMAN CoA synthase 314 Phosphopantetheine adenylyltransferase. coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 21 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) CTTTGTACCAGATCCAGCTGC 0.547000 20 35 0 0 1 0 0 IGHV3-72 28410 broad.mit.edu 37 14 107198952 107198952 + RNA SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr14:107198952C>T ENST00000433072.2 - 0 416 TAATACACGGCCGTGTCCTCG 0.562000 36 141 0 0 1 0 0 KATNB1 10300 broad.mit.edu 37 16 57789974 57789974 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:57789974G>A ENST00000379661.3 + 18 2106 c.1714G>A c.(1714-1716)Gag>Aag p.E572K NM_005886.2 NP_005877.2 Q9BVA0 KTNB1_HUMAN katanin p80 (WD repeat containing) subunit B 1 572 Interaction with KATNA1 and NDEL1 (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_neural(199;0.223) GAGCAAGTATGAGAGGTGCGT 0.602000 16 19 0 0 1 0 0 ACTRT2 140625 broad.mit.edu 37 1 2939301 2939301 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:2939301C>G ENST00000378404.2 + 1 1256 c.1051C>G c.(1051-1053)Ctg>Gtg p.L351V NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 351 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) CGTCACCTCTCTGAGTAGCTT 0.602000 26 148 0 0 1 0 0 CALR 811 broad.mit.edu 37 19 13051060 13051060 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:13051060G>A ENST00000316448.5 + 5 569 c.496G>A c.(496-498)Gat>Aat p.D166N NM_004343.3 NP_004334.1 P27797 CALR_HUMAN calreticulin 166 N-domain. cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding kidney(1)|large_intestine(3)|lung(5)|ovary(1) 10 Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) TCTTCAGGATGATGAGTTTAC 0.557000 50 30 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58384348 58384348 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:58384348C>G ENST00000435989.2 - 3 2644 c.2410G>C c.(2410-2412)Gaa>Caa p.E804Q ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 804 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 TTTCCACATTCACTGCACTCA 0.393000 16 49 0 0 1 0 0 ADAM32 203102 broad.mit.edu 37 8 39008933 39008933 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:39008933G>A ENST00000379907.4 + 6 518 c.391G>A c.(391-393)Gag>Aag p.E131K ADAM32_ENST00000437682.2_Missense_Mutation_p.E138K|ADAM32_ENST00000519315.1_Missense_Mutation_p.E131K NM_145004.5 NP_659441 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 131 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) TTATGGAATTGAGCCTCTGGA 0.289000 5 45 0 0 1 0 0 SURF2 6835 broad.mit.edu 37 9 136227265 136227265 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr9:136227265G>C ENST00000371964.4 + 5 683 c.642G>C c.(640-642)agG>agC p.R214S NM_017503.3 NP_059973.4 Q15527 SURF2_HUMAN surfeit 2 214 protein binding breast(1)|large_intestine(1)|lung(4) 6 OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05) ATGAGAGCAGGAGAGAGACGA 0.552000 3 7 0 0 1 0 0 DDX42 11325 broad.mit.edu 37 17 61886279 61886279 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:61886279G>C ENST00000578681.1 + 11 1724 c.1123G>C c.(1123-1125)Gag>Cag p.E375Q DDX42_ENST00000583590.1_Missense_Mutation_p.E375Q|DDX42_ENST00000389924.2_Missense_Mutation_p.E375Q|DDX42_ENST00000359353.5_Missense_Mutation_p.E256Q|DDX42_ENST00000457800.2_Missense_Mutation_p.E375Q NM_007372.2 NP_031398.2 Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 375 Helicase ATP-binding. protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 GGCCCTTCAGGAGGGGGCAGA 0.483000 26 50 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71209258 71209258 + Missense_Mutation SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr14:71209258C>A ENST00000554752.2 - 6 1376 c.1377G>T c.(1375-1377)aaG>aaT p.K459N MAP3K9_ENST00000554146.1_Missense_Mutation_p.K196N|MAP3K9_ENST00000555993.2_Missense_Mutation_p.K459N|MAP3K9_ENST00000381250.4_Missense_Mutation_p.K459N|MAP3K9_ENST00000553414.1_Missense_Mutation_p.K153N NM_001284230.1 NP_001271159.1 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 459 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CCTCCTGGTTCTTCTGCTGCA 0.612000 13 20 6.31663e-08 6.49066e-08 1 1 0 HIST1H2AJ 8331 broad.mit.edu 37 6 27782458 27782458 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:27782458G>A ENST00000333151.3 - 1 149 c.61C>T c.(61-63)Cgg>Tgg p.R21W NM_021066.2 NP_066544.1 Q99878 H2A1J_HUMAN histone cluster 1, H2aj 21 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 11 AGCCCGGCCCGAGAAGAGCGG 0.612000 12 49 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140174823 140174823 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr5:140174823C>T ENST00000526136.1 + 1 274 c.274C>T c.(274-276)Cgg>Tgg p.R92W PCDHA2_ENST00000378132.1_Missense_Mutation_p.R92W|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R92W NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGGATCGACCGGGAGGAGCT 0.587000 99 82 0 0 1 0 0 ACTL7B 10880 broad.mit.edu 37 9 111617807 111617807 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr9:111617807C>T ENST00000374667.3 - 1 1432 c.404G>A c.(403-405)cGc>cAc p.R135H NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B 135 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 CATGGCGGTGCGGAAGATGTA 0.627000 26 14 0 0 1 0 0 ZNF609 23060 broad.mit.edu 37 15 64915042 64915042 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:64915042C>T ENST00000326648.3 + 2 892 c.764C>T c.(763-765)tCc>tTc p.S255F NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 255 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCCCCTGTTTCCACACCAGCA 0.463000 11 68 0 0 1 0 0 F11 2160 broad.mit.edu 37 4 187197423 187197423 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr4:187197423G>A ENST00000264692.4 + 7 811 c.478G>A c.(478-480)Gac>Aac p.D160N F11_ENST00000403665.2_Missense_Mutation_p.D212N P03951 FA11_HUMAN coagulation factor XI 212 Apple 2. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) GGTGTTTGCAGACAGCAACAT 0.478000 8 63 0 0 1 0 0 CAMK1 8536 broad.mit.edu 37 3 9799522 9799522 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:9799522G>C ENST00000256460.3 - 11 1098 c.921C>G c.(919-921)ttC>ttG p.F307L OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000449570.2_Intron NM_003656.4 NP_003647.1 Q14012 KCC1A_HUMAN calcium/calmodulin-dependent protein kinase I 307 Autoinhibitory domain (By similarity).|Calmodulin-binding (By similarity). cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 12 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.0475) CCGTGGCATTGAAGGCTTGCT 0.597000 23 32 0 0 1 0 0 ZNF439 90594 broad.mit.edu 37 19 11976998 11976998 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:11976998C>G ENST00000304030.2 + 1 227 c.27C>G c.(25-27)ctC>ctG p.L9L ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Intron NM_152262.2 NP_689475.1 Q8NDP4 ZN439_HUMAN zinc finger protein 439 9 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2) 27 CCATCCTCCTCTACACATGTG 0.498000 115 64 0 0 1 0 0 PKD2L1 9033 broad.mit.edu 37 10 102088980 102088980 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:102088980C>G ENST00000318222.3 - 2 719 c.337G>C c.(337-339)Gac>Cac p.D113H PKD2L1_ENST00000338519.3_Missense_Mutation_p.D113H|PKD2L1_ENST00000353274.3_Missense_Mutation_p.D113H NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 113 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) AGACAGATGTCCACCAGGAAC 0.443000 9 48 0 0 1 0 0 NR1H3 10062 broad.mit.edu 37 11 47289495 47289495 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:47289495C>G ENST00000467728.1 + 7 2258 c.1020C>G c.(1018-1020)ttC>ttG p.F340L NR1H3_ENST00000407404.1_Missense_Mutation_p.F280L|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.F280L|NR1H3_ENST00000405576.1_Missense_Mutation_p.F235L|NR1H3_ENST00000395397.3_Missense_Mutation_p.F295L|NR1H3_ENST00000441012.2_Missense_Mutation_p.F340L|NR1H3_ENST00000481889.2_Missense_Mutation_p.F359L|NR1H3_ENST00000527949.1_Missense_Mutation_p.F189L Q13133 NR1H3_HUMAN nuclear receptor subfamily 1, group H, member 3 340 Ligand-binding (Potential). apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis nuclear chromatin|nucleoplasm cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5) 20 ACCCCATCTTCGAGTTCTCCA 0.532000 23 27 0 0 1 0 0 SDPR 8436 broad.mit.edu 37 2 192711645 192711645 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:192711645C>G ENST00000304141.4 - 1 336 c.7G>C c.(7-9)Gag>Cag p.E3Q AC098617.1_ENST00000424116.2_RNA NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 3 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) GCAGCGTCCTCTCCCATGGCT 0.622000 15 50 0 0 1 0 0 RRP1B 23076 broad.mit.edu 37 21 45113165 45113165 + Silent SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr21:45113165G>C ENST00000340648.4 + 16 2295 c.2178G>C c.(2176-2178)ctG>ctC p.L726L NM_015056.2 NP_055871.1 Q14684 RRP1B_HUMAN ribosomal RNA processing 1B 726 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1) 21 STAD - Stomach adenocarcinoma(101;0.178) ACGGGGTGCTGAAGACCCCCA 0.592000 5 17 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39230279 39230279 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:39230279C>G ENST00000340369.3 - 2 886 c.658G>C c.(658-660)Gag>Cag p.E220Q XIRP1_ENST00000396251.1_Missense_Mutation_p.E220Q|XIRP1_ENST00000421646.1_Intron NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 220 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TCCTGGATCTCTGAGCGCAGT 0.612000 23 56 0 0 1 0 0 MMGT1 93380 broad.mit.edu 37 X 135047188 135047188 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:135047188G>A ENST00000305963.2 - 4 778 c.391C>T c.(391-393)Cgt>Tgt p.R131C MMGT1_ENST00000433339.2_Missense_Mutation_p.R196C NM_173470.1 NP_775741.1 Q8N4V1 MMGT1_HUMAN membrane magnesium transporter 1 131 early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane magnesium ion transmembrane transporter activity cervix(1)|endometrium(1)|kidney(1) 3 AAATCTTAACGACGCAGTGAT 0.393000 5 195 0 0 1 0 0 DOK1 1796 broad.mit.edu 37 2 74783531 74783531 + Nonsense_Mutation SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:74783531G>T ENST00000233668.5 + 5 1405 c.736G>T c.(736-738)Gag>Tag p.E246* DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000409429.1_Nonsense_Mutation_p.E107*|DOK1_ENST00000480318.1_3'UTR NM_001381.3 NP_001372.1 Q99704 DOK1_HUMAN docking protein 1, 62kDa (downstream of tyrosine kinase 1) 246 IRS-type PTB. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol|perinuclear region of cytoplasm insulin receptor binding endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 CCAGGCAGTTGAGACTGCCAT 0.607000 5 50 0.014758 0.0148464 1 1 0 ZNF572 137209 broad.mit.edu 37 8 125990084 125990084 + Nonsense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:125990084C>G ENST00000319286.5 + 3 1728 c.1574C>G c.(1573-1575)tCa>tGa p.S525* NM_152412.2 NP_689625.2 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 525 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 31 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) TTTTCCGTCTCAAATTCATCT 0.423000 HNSCC(60;0.17) 7 43 0 0 1 0 0 AMFR 267 broad.mit.edu 37 16 56423280 56423280 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:56423280G>C ENST00000290649.5 - 9 1303 c.1093C>G c.(1093-1095)Ctt>Gtt p.L365V NM_001144.5 NP_001135.3 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor, E3 ubiquitin protein ligase 365 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 CAGGAACGAAGACAGGAGCTA 0.423000 30 31 0 0 1 0 0 SLC22A25 387601 broad.mit.edu 37 11 62985184 62985184 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:62985184C>G ENST00000403374.2 - 4 335 c.32G>C c.(31-33)aGa>aCa p.R11T SLC22A25_ENST00000306494.6_Missense_Mutation_p.R177T|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron Q6T423 S22AP_HUMAN solute carrier family 22, member 25 177 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 GTAAGACCATCTGAGCACGAA 0.507000 7 28 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29632660 29632660 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr20:29632660G>A ENST00000278882.3 + 8 855 c.475G>A c.(475-477)Gag>Aag p.E159K FRG1B_ENST00000358464.4_Missense_Mutation_p.E159K endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AAGTAAAGAAGAGAGTAAAAT 0.318000 8 632 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48612912 48612912 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:48612912G>A ENST00000328333.8 - 73 6147 c.6040C>T c.(6040-6042)Cag>Tag p.Q2014* COL7A1_ENST00000454817.1_Nonsense_Mutation_p.Q1982* NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2014 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGTGGCCCCTGAGGGCCAGGG 0.692000 9 14 0 0 1 0 0 RASL10B 91608 broad.mit.edu 37 17 34068249 34068249 + Nonsense_Mutation SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:34068249C>A ENST00000268864.3 + 4 914 c.537C>A c.(535-537)tgC>tgA p.C179* NM_033315.3 NP_201572.1 Q96S79 RSLAB_HUMAN RAS-like, family 10, member B 179 Small GTPase-like. small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GCGTCGGCTGCGCCCGTTGCA 0.667000 6 15 0.0215528 0.0216603 1 1 0 NOA1 84273 broad.mit.edu 37 4 57840116 57840116 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr4:57840116C>G ENST00000264230.4 - 2 2454 c.1217G>C c.(1216-1218)aGa>aCa p.R406T NM_032313.2 NP_115689.1 Q8NC60 CD014_HUMAN nitric oxide associated 1 406 GTP binding TTTTTTAAGTCTTTGATGCCT 0.338000 16 37 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9224898 9224898 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr5:9224898C>T ENST00000382496.5 - 8 1199 c.534G>A c.(532-534)gaG>gaA p.E178E NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 178 Sema. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 CAGCATAGAGCTCCCCACCAG 0.557000 18 17 0 0 1 0 0 HIST1H4E 8367 broad.mit.edu 37 6 26204900 26204900 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:26204900G>A ENST00000360441.4 + 1 43 c.28G>A c.(28-30)Gga>Aga p.G10R NM_003545.3 NP_003536.1 P62805 H4_HUMAN histone cluster 1, H4e 10 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 18 all_hematologic(11;0.196) AGGCGGAAAGGGACTGGGTAA 0.547000 27 43 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4945331 4945331 + Silent SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:4945331G>C ENST00000345988.2 - 11 1262 c.1173C>G c.(1171-1173)ctC>ctG p.L391L PPL_ENST00000590782.2_Silent_p.L389L NM_002705.4 NP_002696 O60437 PEPL_HUMAN periplakin 391 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 GGCGGTACTTGAGGGGCACCA 0.642000 10 50 0 0 1 0 0 KLF10 7071 broad.mit.edu 37 8 103663469 103663469 + Nonsense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:103663469G>C ENST00000395884.3 - 3 1960 c.1058C>G c.(1057-1059)tCa>tGa p.S353* KLF10_ENST00000285407.6_Nonsense_Mutation_p.S364* NM_001032282.2 NP_001027453.1 Q13118 KLF10_HUMAN Kruppel-like factor 10 364 cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3) 18 all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169) OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826) CCTTATCCTTGATGAATCAAT 0.537000 26 82 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77644831 77644831 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr13:77644831C>G ENST00000407578.2 - 69 12105 c.11839G>C c.(11839-11841)Gac>Cac p.D3947H MYCBP2_ENST00000357337.6_Missense_Mutation_p.D3909H|MYCBP2_ENST00000544440.2_Missense_Mutation_p.D3909H NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 3909 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TCTTTCAGGTCAGCATCTGAT 0.299000 44 80 0 0 1 0 0 ATN1 1822 broad.mit.edu 37 12 7047656 7047656 + Nonsense_Mutation SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:7047656G>T ENST00000356654.4 + 7 2767 c.2530G>T c.(2530-2532)Gag>Tag p.E844* ATN1_ENST00000396684.2_Nonsense_Mutation_p.E844* NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 844 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 GTTGGCTCAGGAGGGCCGTGC 0.587000 OREG0021641 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 22 5.50884e-06 5.6091e-06 1 1 0 HHLA2 11148 broad.mit.edu 37 3 108076972 108076972 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:108076972G>C ENST00000357759.5 + 6 1381 c.967G>C c.(967-969)Gaa>Caa p.E323Q HHLA2_ENST00000467562.1_Missense_Mutation_p.E259Q|HHLA2_ENST00000467761.1_Missense_Mutation_p.E323Q|HHLA2_ENST00000491820.1_Missense_Mutation_p.E323Q|HHLA2_ENST00000489514.2_Missense_Mutation_p.E323Q NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 323 Ig-like V-type 2. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 TTCTTCGGATGAATATACTTT 0.363000 14 34 0 0 1 0 0 NME7 29922 broad.mit.edu 37 1 169206874 169206874 + Nonsense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:169206874G>C ENST00000367811.3 - 8 1062 c.806C>G c.(805-807)tCa>tGa p.S269* NME7_ENST00000472647.1_Nonsense_Mutation_p.S233* NM_013330.3 NP_037462.1 Q9Y5B8 NDK7_HUMAN NME/NM23 family member 7 269 CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process centrosome ATP binding|metal ion binding|nucleoside diphosphate kinase activity central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1) 16 all_hematologic(923;0.208) CTGCATAGCTGAGATTTCAAA 0.328000 30 94 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43748764 43748764 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:43748764C>G ENST00000263801.3 - 12 2279 c.2027G>C c.(2026-2028)gGa>gCa p.G676A TP53BP1_ENST00000382044.4_Missense_Mutation_p.G681A|TP53BP1_ENST00000450115.2_Missense_Mutation_p.G681A|TP53BP1_ENST00000382039.3_Missense_Mutation_p.G681A NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 676 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GAGTTCCTCTCCTTGACTTTC 0.453000 Other conserved DNA damage response genes 20 64 0 0 1 0 0 BGLAP 632 broad.mit.edu 37 1 156212025 156212025 + Translation_Start_Site SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:156212025G>A ENST00000368272.4 + 1 273 c.3G>A c.(1-3)atG>atA p.M1I PMF1_ENST00000567140.1_Intron|PMF1-BGLAP_ENST00000368276.4_Intron|PMF1-BGLAP_ENST00000320139.5_Intron|PMF1-BGLAP_ENST00000490491.1_Intron|PMF1_ENST00000565805.1_Intron NM_199173.4 NP_954642.1 P02818 OSTCN_HUMAN bone gamma-carboxyglutamate (gla) protein 1 bone mineralization|cell adhesion|odontogenesis|regulation of bone mineralization|regulation of bone resorption|regulation of osteoclast differentiation calcium ion binding|hydroxyapatite binding|structural constituent of bone large_intestine(3)|lung(1)|urinary_tract(1) 5 Hepatocellular(266;0.158) Phytonadione(DB01022) GAGACACCATGAGAGCCCTCA 0.667000 11 15 0 0 1 0 0 HSP90B1 7184 broad.mit.edu 37 12 104327748 104327748 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:104327748G>C ENST00000299767.5 + 5 608 c.426G>C c.(424-426)aaG>aaC p.K142N NM_003299.2 NP_003290.1 P14625 ENPL_HUMAN heat shock protein 90kDa beta (Grp94), member 1 142 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4) 29 Rifabutin(DB00615) ATAAGGAGAAGAACCTGCTGC 0.398000 14 58 0 0 1 0 0 IGF2BP2 10644 broad.mit.edu 37 3 185375096 185375096 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:185375096C>T ENST00000382199.2 - 12 1459 c.1364G>A c.(1363-1365)aGa>aAa p.R455K IGF2BP2_ENST00000346192.3_Missense_Mutation_p.R412K|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.R398K|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.R461K|IGF2BP2_ENST00000494906.1_5'UTR NM_006548.4 NP_006539.3 Q9Y6M1 IF2B2_HUMAN insulin-like growth factor 2 mRNA binding protein 2 455 KH 3. anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 20 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) TCCGGCGAATCTCGCCAGCTG 0.592000 11 26 0 0 1 0 0 AATK 9625 broad.mit.edu 37 17 79094976 79094976 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:79094976G>A ENST00000326724.4 - 11 2784 c.2760C>T c.(2758-2760)ttC>ttT p.F920F AATK_ENST00000417379.1_Silent_p.F817F NM_001080395.2 NP_001073864.2 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 920 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1) 21 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) CCGACGGGCTGAAGACCTCAT 0.637000 4 12 0 0 1 0 0 MAPRE1 22919 broad.mit.edu 37 20 31427559 31427559 + Nonsense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr20:31427559C>G ENST00000375571.5 + 5 633 c.494C>G c.(493-495)tCa>tGa p.S165* NM_012325.2 NP_036457.1 Q15691 MARE1_HUMAN microtubule-associated protein, RP/EB family, member 1 165 Interaction with MTUS2/TIP150. cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule centrosome|cortical microtubule cytoskeleton|cytosol microtubule plus-end binding|protein C-terminus binding p.S165*(1) endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 AGGCCCATCTCAACACAGAGA 0.527000 8 382 0 0 1 0 0 LCLAT1 253558 broad.mit.edu 37 2 30790940 30790940 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:30790940C>G ENST00000309052.4 + 6 849 c.640C>G c.(640-642)Cga>Gga p.R214G LCLAT1_ENST00000319406.4_Missense_Mutation_p.R214G|LCLAT1_ENST00000359433.1_Missense_Mutation_p.R214G|LCLAT1_ENST00000379509.3_Missense_Mutation_p.R176G|LCLAT1_ENST00000540623.1_Missense_Mutation_p.R176G|LCLAT1_ENST00000491680.2_3'UTR NM_182551.3 NP_872357.2 Q6UWP7 LCLT1_HUMAN lysocardiolipin acyltransferase 1 214 multicellular organismal development|phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2) 19 CAGCAAGTCTCGAAGTAATGC 0.313000 15 59 0 0 1 0 0 HSPA1L 3305 broad.mit.edu 37 6 31777967 31777967 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:31777967C>G ENST00000375654.4 - 2 1972 c.1783G>C c.(1783-1785)Gat>Cat p.D595H HSPA1L_ENST00000417199.3_Missense_Mutation_p.D595H NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 595 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 CTCTTATGATCAAACTCATCT 0.448000 37 82 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9316282 9316282 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:9316282G>C ENST00000261336.2 - 21 2746 c.2718C>G c.(2716-2718)atC>atG p.I906M PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Intron NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 ACAGGGTTTTGATGACTGTGT 0.433000 18 35 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201618437 201618437 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:201618437C>T ENST00000367296.4 + 1 1061 c.641C>T c.(640-642)tCt>tTt p.S214F NAV1_ENST00000367302.1_Missense_Mutation_p.S227F|NAV1_ENST00000295624.6_Missense_Mutation_p.S214F|NAV1_ENST00000367297.4_Missense_Mutation_p.S214F|NAV1_ENST00000367300.3_Missense_Mutation_p.S214F NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 214 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 CAAAAGAGCTCTGGGCCTGTC 0.657000 6 14 0 0 1 0 0 ST8SIA1 6489 broad.mit.edu 37 12 22487047 22487047 + Translation_Start_Site SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:22487047G>T ENST00000539510.1 - 0 84 ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000381424.3_Silent_p.L40L|ST8SIA1_ENST00000396037.4_Silent_p.L40L|ST8SIA1_ENST00000404299.3_Silent_p.L40L Q92185 SIA8A_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 AGAGCCAACAGAGGACCACGA 0.652000 47 63 8.04919e-23 8.58637e-23 1 1 0 RSRC1 51319 broad.mit.edu 37 3 157920947 157920947 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:157920947G>C ENST00000295930.3 + 4 569 c.407G>C c.(406-408)aGa>aCa p.R136T RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000475278.2_Missense_Mutation_p.R136T|RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000480820.1_Missense_Mutation_p.R136T NM_001271838.1|NM_016625.2 NP_001258767.1|NP_057709.2 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 136 Arg/Ser-rich. nucleocytoplasmic transport cytoplasm|nuclear speck protein binding cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 18 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) TCTCGGGATAGAGAACGACGT 0.468000 5 17 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168187935 168187935 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr5:168187935C>T ENST00000519560.1 - 16 2036 c.1617G>A c.(1615-1617)ctG>ctA p.L539L SLIT3_ENST00000332966.8_Silent_p.L539L|SLIT3_ENST00000404867.3_Silent_p.L539L NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 539 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CATTGTCATTCAGTCGCCTGT 0.532000 27 20 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120600994 120600994 + Missense_Mutation SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:120600994G>T ENST00000300648.6 - 19 1930 c.1918C>A c.(1918-1920)Cca>Aca p.P640T NM_006836.1 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 640 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGGACCCGTGGAGGCACGTAG 0.562000 15 25 6.49762e-13 6.8371e-13 1 1 0 R3HCC1L 27291 broad.mit.edu 37 10 99991295 99991295 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:99991295G>C ENST00000314594.5 + 7 2157 c.60G>C c.(58-60)gaG>gaC p.E20D R3HCC1L_ENST00000370586.2_Missense_Mutation_p.E10D|R3HCC1L_ENST00000298999.3_Missense_Mutation_p.E604D|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.E604D NM_001256619.1 NP_001243548.1 R3H domain and coiled-coil containing 1-like AGAGCAGAGAGAGCATCCAGG 0.358000 13 47 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207758064 207758064 + Silent SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:207758064C>A ENST00000367049.4 + 33 5373 c.5373C>A c.(5371-5373)ccC>ccA p.P1791P CR1_ENST00000367051.1_Silent_p.P1341P|CR1_ENST00000400960.2_Silent_p.P1341P|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Silent_p.P1341P|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367052.1_Silent_p.P1341P NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1341 Sushi 28. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GAGATATTCCCTATGGAAAAG 0.468000 45 78 2.43468e-25 2.60268e-25 1 1 0 NDUFAF5 79133 broad.mit.edu 37 20 13775549 13775549 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr20:13775549C>T ENST00000378106.5 + 5 560 c.441C>T c.(439-441)ttC>ttT p.F147F NDUFAF5_ENST00000463598.1_Intron|NDUFAF5_ENST00000475968.1_Intron NM_024120.4 NP_077025.2 Q5TEU4 CT007_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 147 mitochondrial respiratory chain complex I assembly extrinsic to mitochondrial inner membrane methyltransferase activity TCCTTCCCTTCAAAGAAAATA 0.318000 15 10 0 0 1 0 0 HAND2 9464 broad.mit.edu 37 4 174448515 174448515 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr4:174448515C>G ENST00000359562.4 - 2 1506 c.567G>C c.(565-567)ttG>ttC p.L189F HAND2-AS1_ENST00000512099.1_RNA NM_021973.2 NP_068808.1 P61296 HAND2_HUMAN heart and neural crest derivatives expressed 2 189 adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development nuclear chromatin|transcription factor complex activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 13 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) CTGTGCTTTTCAAGATTTCGT 0.562000 17 48 0 0 1 0 0 FAM110A 83541 broad.mit.edu 37 20 826051 826051 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr20:826051C>G ENST00000304189.2 + 3 985 c.604C>G c.(604-606)Ctc>Gtc p.L202V FAM110A_ENST00000381939.1_Missense_Mutation_p.L202V|FAM110A_ENST00000541082.1_Missense_Mutation_p.L202V|FAM110A_ENST00000381941.3_Missense_Mutation_p.L202V|FAM110A_ENST00000246100.3_Missense_Mutation_p.L202V Q9BQ89 F110A_HUMAN family with sequence similarity 110, member A 202 microtubule organizing center|spindle pole protein binding breast(1)|lung(2) 3 AGCCGCTGATCTCGAGCGCTT 0.672000 7 12 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75798882 75798882 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:75798882C>T ENST00000322507.8 - 64 9259 c.8950G>A c.(8950-8952)Gga>Aga p.G2984R COL12A1_ENST00000483888.2_Missense_Mutation_p.G2980R|COL12A1_ENST00000345356.6_Missense_Mutation_p.G1820R|COL12A1_ENST00000416123.2_Missense_Mutation_p.G2908R|COL12A1_ENST00000511023.1_5'UTR NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2984 Triple-helical region (COL1) with 2 imperfections. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CCTTTCTCTCCTGGCAAACCT 0.418000 5 13 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7620229 7620229 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:7620229G>A ENST00000486284.1 + 8 1910 c.1636G>A c.(1636-1638)Gag>Aag p.E546K GRM7_ENST00000389336.4_Missense_Mutation_p.E546K|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.E546K|GRM7_ENST00000403881.1_Missense_Mutation_p.E546K|GRM7_ENST00000357716.4_Missense_Mutation_p.E546K NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 546 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TTGGACCTGTGAGCCTTGCGA 0.502000 28 67 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834737 125834737 + Silent SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:125834737C>A ENST00000299308.3 + 2 800 c.792C>A c.(790-792)gtC>gtA p.V264V NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 264 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GTGTGGTGGTCTACCCAACCC 0.577000 47 86 1.31131e-34 1.40627e-34 1 1 0 SUSD4 55061 broad.mit.edu 37 1 223402708 223402708 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:223402708C>T ENST00000343846.3 - 5 1380 c.747G>A c.(745-747)gtG>gtA p.V249V SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Silent_p.V89V|SUSD4_ENST00000366878.4_Silent_p.V249V|SUSD4_ENST00000494793.2_Silent_p.V249V|SUSD4_ENST00000484758.2_Silent_p.V180V Q5VX71 SUSD4_HUMAN sushi domain containing 4 249 Sushi 4. integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) CTCCGTGACTCACCATTGGAG 0.542000 19 42 0 0 1 0 0 BRAT1 221927 broad.mit.edu 37 7 2578831 2578831 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:2578831C>T ENST00000340611.4 - 13 2008 c.1752G>A c.(1750-1752)gaG>gaA p.E584E BRAT1_ENST00000473879.1_Intron NM_152743.3 NP_689956.2 Q6PJG6 BRAT1_HUMAN BRCA1-associated ATM activator 1 584 response to ionizing radiation nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 CCTCTGCATGCTCAGGGCTGG 0.672000 13 19 0 0 1 0 0 GATA3 2625 broad.mit.edu 37 10 8100269 8100269 + Splice_Site SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:8100269G>T ENST00000379328.3 + 3 811 c.243G>T c.(241-243)ggG>ggT p.G81G GATA3_ENST00000346208.3_Splice_Site_p.G81G NM_001002295.1|NM_002051.2 NP_001002295.1|NP_002042.1 P23771 GATA3_HUMAN GATA binding protein 3 81 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 GCCCCACAGGGAGCCAGGTGT 0.672000 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" 6 41 1.12685e-05 1.14274e-05 1 1 0 ZNF107 51427 broad.mit.edu 37 7 64167065 64167065 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:64167065G>C ENST00000395391.1 + 4 1758 c.383G>C c.(382-384)aGa>aCa p.R128T ZNF107_ENST00000423627.1_Missense_Mutation_p.R128T|ZNF107_ENST00000344930.3_Missense_Mutation_p.R128T Q9UII5 ZN107_HUMAN zinc finger protein 107 128 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) ATTCATACTAGAGTGAATTCC 0.343000 8 31 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10364202 10364202 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:10364202G>C ENST00000377093.4 + 21 3112 c.2959G>C c.(2959-2961)Gag>Cag p.E987Q KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.E987Q|KIF1B_ENST00000377081.1_Intron NM_183416.3 NP_904325.2 O60333 KIF1B_HUMAN kinesin family member 1B 0 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) TGAGGTTATAGAGCTTAGGAT 0.448000 35 55 0 0 1 0 0 CRB2 286204 broad.mit.edu 37 9 126133737 126133737 + Silent SNP C C T rs142240363 TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr9:126133737C>T ENST00000373631.3 + 8 2317 c.2316C>T c.(2314-2316)ctC>ctT p.L772L CRB2_ENST00000373629.2_Silent_p.L440L|CRB2_ENST00000359999.3_Silent_p.L772L NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 772 Laminin G-like 2. extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 ACCTGCGACTCGATGGCTGCC 0.682000 11 45 0 0 1 0 0 FOXO3 2309 broad.mit.edu 37 6 108985224 108985224 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:108985224C>T ENST00000406360.1 + 2 1531 c.1188C>T c.(1186-1188)ctC>ctT p.L396L FOXO3_ENST00000540898.1_Silent_p.L176L|FOXO3_ENST00000343882.6_Silent_p.L396L NM_001455.3 NP_001446.1 O43524 FOXO3_HUMAN forkhead box O3 396 antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) ACATCACGCTCCCGCCATCCC 0.602000 9 24 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140870771 140870771 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr5:140870771C>T ENST00000252087.1 + 1 1964 c.1964C>T c.(1963-1965)tCa>tTa p.S655L PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 655 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ggtgacccttcactctcctcc 0.577000 9 33 0 0 1 0 0 HSPH1 10808 broad.mit.edu 37 13 31728800 31728800 + Silent SNP G G C rs111995920 TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr13:31728800G>C ENST00000320027.5 - 4 743 c.399C>G c.(397-399)ctC>ctG p.L133L HSPH1_ENST00000380406.5_Intron|HSPH1_ENST00000429785.2_Silent_p.L30L|HSPH1_ENST00000380405.4_Silent_p.L133L|HSPH1_ENST00000445273.2_Silent_p.L135L NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 133 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) CTGGTTTCTTGAGGCTGTTTT 0.348000 19 57 0 0 1 0 0 SYTL3 94120 broad.mit.edu 37 6 159183116 159183116 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:159183116C>G ENST00000297239.9 + 15 1617 c.1423C>G c.(1423-1425)Cag>Gag p.Q475E SYTL3_ENST00000360448.3_Missense_Mutation_p.Q407E|SYTL3_ENST00000367081.3_Missense_Mutation_p.Q201E Q4VX76 SYTL3_HUMAN synaptotagmin-like 3 475 C2 2. intracellular protein transport endomembrane system|membrane Rab GTPase binding endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1) 20 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06) AGGGACAGATCAGCCATCACT 0.483000 13 38 0 0 1 0 0 ZNF415 55786 broad.mit.edu 37 19 53612988 53612988 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:53612988C>T ENST00000455735.2 - 7 774 c.454G>A c.(454-456)Gaa>Aaa p.E152K ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.E152K|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.E91K|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.E116K|ZNF415_ENST00000243643.4_Missense_Mutation_p.E104K|ZNF415_ENST00000601215.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000500065.4_Missense_Mutation_p.E104K|ZNF415_ENST00000594011.1_3'UTR Q09FC8 ZN415_HUMAN zinc finger protein 415 152 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) CAATTTCTTTCATCATCTCTC 0.373000 64 49 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54760855 54760855 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:54760855C>G ENST00000450632.1 - 2 116 c.39G>C c.(37-39)ctG>ctC p.L13L LILRB5_ENST00000345866.6_Silent_p.L13L|LILRB5_ENST00000449561.2_Silent_p.L13L|LILRB5_ENST00000316219.5_Silent_p.L13L O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 13 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGCCCACACTCAGCCCTGGAA 0.622000 25 18 0 0 1 0 0 LUC7L 55692 broad.mit.edu 37 16 249172 249172 + Silent SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:249172G>T ENST00000337351.4 - 6 699 c.576C>A c.(574-576)gtC>gtA p.V192V LUC7L_ENST00000397783.1_Silent_p.V192V|LUC7L_ENST00000397780.1_Silent_p.V139V|LUC7L_ENST00000293872.8_Silent_p.V192V NM_018032.3 NP_060502.1 Q9NQ29 LUC7L_HUMAN LUC7-like (S. cerevisiae) 192 metal ion binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 11 all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306) AGGCTGAACAGACCTCGCAGA 0.483000 45 55 1.6237e-14 1.7157e-14 1 1 0 ICAM5 7087 broad.mit.edu 37 19 10402390 10402390 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:10402390G>C ENST00000221980.4 + 3 641 c.578G>C c.(577-579)gGa>gCa p.G193A NM_003259.3 NP_003250.3 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5, telencephalin 193 Ig-like C2-type 2. cell-cell adhesion integral to plasma membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) GAGGACCATGGAGCCAATTTC 0.677000 19 9 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49414970 49414970 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:49414970G>A ENST00000374201.3 - 14 1920 c.1618C>T c.(1618-1620)Cag>Tag p.Q540* FRMPD2_ENST00000407470.4_Nonsense_Mutation_p.Q508*|FRMPD2_ENST00000305531.3_Nonsense_Mutation_p.Q515* NM_001018071.3|NM_001042512.2 NP_001018081|NP_001035977.2 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 540 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) GGGAGCTGCTGAGTGACCTGG 0.502000 14 41 0 0 1 0 0 TTLL12 23170 broad.mit.edu 37 22 43569763 43569763 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr22:43569763C>G ENST00000216129.6 - 9 1362 c.1299G>C c.(1297-1299)aaG>aaC p.K433N NM_015140.3 NP_055955.1 Q14166 TTL12_HUMAN tubulin tyrosine ligase-like family, member 12 433 TTL. protein modification process tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 13 Ovarian(80;0.221)|Glioma(61;0.222) TGTGCAGGCTCTTGGTGACGT 0.687000 7 19 0 0 1 0 0 SCAF1 58506 broad.mit.edu 37 19 50154457 50154457 + Nonsense_Mutation SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:50154457G>T ENST00000360565.3 + 7 935 c.811G>T c.(811-813)Gag>Tag p.E271* NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 271 Glu-rich. mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) Tgaggaggaagaggaggagga 0.617000 28 12 1.17739e-12 1.23762e-12 1 1 0 NANP 140838 broad.mit.edu 37 20 25604545 25604545 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr20:25604545C>G ENST00000304788.3 - 1 266 c.40G>C c.(40-42)Gac>Cac p.D14H NM_152667.2 NP_689880.1 Q8TBE9 NANP_HUMAN N-acetylneuraminic acid phosphatase 14 Substrate binding. N-acetylneuraminate biosynthetic process N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity endometrium(2)|lung(2)|prostate(1) 5 AGAGTGTTGTCCAAGTCAAAG 0.697000 5 15 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31621561 31621561 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:31621561C>G ENST00000379416.3 - 5 359 c.311G>C c.(310-312)aGa>aCa p.R104T NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 104 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TTTGGCAATTCTCTCCTAAAA 0.557000 24 50 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179427540 179427540 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:179427540C>G ENST00000589042.1 - 326 83543 c.83319G>C c.(83317-83319)ttG>ttC p.L27773F TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L18833F|TTN_ENST00000460472.2_Missense_Mutation_p.L18708F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L25205F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L26132F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L18900F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26132 Fibronectin type-III 102. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCTTATGGTCAAATTCACAG 0.413000 10 30 0 0 1 0 0 BAZ2A 11176 broad.mit.edu 37 12 56994883 56994883 + Splice_Site SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:56994883C>G ENST00000179765.5 - 23 4404 c.e23-1 BAZ2A_ENST00000551812.1_Splice_Site|BAZ2A_ENST00000379441.3_Splice_Site|BAZ2A_ENST00000553222.1_Splice_Site|BAZ2A_ENST00000549884.1_Splice_Site Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 GAGCACATCTCTGTGAGCAGA 0.582000 10 18 0 0 1 0 0 PLCG1 5335 broad.mit.edu 37 20 39793642 39793642 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr20:39793642C>G ENST00000373272.2 + 13 1692 c.1287C>G c.(1285-1287)ttC>ttG p.F429L PLCG1_ENST00000373271.1_Missense_Mutation_p.F429L|PLCG1_ENST00000244007.3_Missense_Mutation_p.F429L NM_002660.2 NP_002651.2 P19174 PLCG1_HUMAN phospholipase C, gamma 1 429 PI-PLC X-box. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) CCCAATACTTCAAGAAGGTGC 0.567000 11 65 0 0 1 0 0 IQSEC3 440073 broad.mit.edu 37 12 247556 247556 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:247556C>T ENST00000538872.1 + 4 1145 c.1027C>T c.(1027-1029)Ctg>Ttg p.L343L RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000382841.2_Silent_p.L40L|IQSEC3_ENST00000326261.4_Silent_p.L343L Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 343 IQ. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) CAACTCGCTTCTGGAGAGCCG 0.662000 4 21 0 0 1 0 0 HDAC8 55869 broad.mit.edu 37 X 71715033 71715033 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:71715033C>T ENST00000439122.2 - 5 809 c.523G>A c.(523-525)Gtg>Atg p.V175M HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373571.1_Missense_Mutation_p.V175M|HDAC8_ENST00000429103.2_De_novo_Start_InFrame|HDAC8_ENST00000373589.4_Missense_Mutation_p.V84M|HDAC8_ENST00000373573.3_Missense_Mutation_p.V175M|HDAC8_ENST00000373560.2_Intron|HDAC8_ENST00000373561.4_Missense_Mutation_p.V175M|HDAC8_ENST00000478743.1_5'UTR|HDAC8_ENST00000373559.4_Missense_Mutation_p.V84M NM_001166419.1 NP_001159891.1 Q9BY41 HDAC8_HUMAN histone deacetylase 8 175 Histone deacetylase. chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nuclear chromosome histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1) 10 Renal(35;0.156) Vorinostat(DB02546) TCCAAATCCACGTAGAGAATA 0.423000 9 43 0 0 1 0 0 VAV2 7410 broad.mit.edu 37 9 136857321 136857321 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr9:136857321G>C ENST00000371851.1 - 1 405 c.80C>G c.(79-81)tCg>tGg p.S27W VAV2_ENST00000371850.3_Missense_Mutation_p.S27W|VAV2_ENST00000406606.3_Missense_Mutation_p.S27W|VAV2_ENST00000486113.1_5'UTR P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor 27 CH. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) GACCACGGCCGAGGGCCACAC 0.711000 7 7 0 0 1 0 0 FLII 2314 broad.mit.edu 37 17 18150557 18150557 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:18150557C>G ENST00000327031.4 - 21 2827 c.2602G>C c.(2602-2604)Gag>Cag p.E868Q FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Missense_Mutation_p.E782Q|FLII_ENST00000579294.1_Missense_Mutation_p.E857Q|FLII_ENST00000545457.2_Missense_Mutation_p.E813Q NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 868 multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) TCTTTCTTCTCGGCGTCGCGT 0.652000 15 17 0 0 1 0 0 UNC5C 8633 broad.mit.edu 37 4 96127806 96127806 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr4:96127806C>G ENST00000453304.1 - 11 2223 c.1875G>C c.(1873-1875)aaG>aaC p.K625N NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 625 ZU5. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) CTGCCTGGTTCTTGAGCAGTA 0.552000 28 87 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90418320 90418320 + Missense_Mutation SNP C C T rs149622123 TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:90418320C>T ENST00000369393.3 - 51 7908 c.7793G>A c.(7792-7794)cGa>cAa p.R2598Q MDN1_ENST00000428876.1_Missense_Mutation_p.R2598Q Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 2598 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CATATTCCATCGGGGATCCAG 0.418000 57 84 0 0 1 0 0 SUCO 51430 broad.mit.edu 37 1 172538243 172538243 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:172538243G>A ENST00000367723.4 + 7 1415 c.1291G>A c.(1291-1293)Gaa>Aaa p.E431K SUCO_ENST00000608151.1_Missense_Mutation_p.E432K|SUCO_ENST00000263688.3_Missense_Mutation_p.E273K|SUCO_ENST00000610051.1_Missense_Mutation_p.E236K NM_016227.2 NP_057311.3 SUN domain containing ossification factor AACATTTGATGAATGGAAGAA 0.318000 34 86 0 0 1 0 0 KLK15 55554 broad.mit.edu 37 19 51329903 51329903 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:51329903C>G ENST00000326856.4 - 5 718 c.589G>C c.(589-591)Gag>Cag p.E197Q KLK15_ENST00000596931.1_Intron|KLK15_ENST00000301421.2_Intron|KLK15_ENST00000598239.1_Missense_Mutation_p.E198Q|KLK15_ENST00000416184.1_Intron NM_001277081.1 NP_001264010.1 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 198 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) CCTCTGCCCTCCGCGCCTGCA 0.577000 33 21 0 0 1 0 0 PPP2R3B 28227 broad.mit.edu 37 X 302113 302113 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:302113C>T ENST00000390665.3 - 9 1122 c.1104G>A c.(1102-1104)aaG>aaA p.K368K NM_013239.4 NP_037371.2 Q9Y5P8 P2R3B_HUMAN protein phosphatase 2, regulatory subunit B'', beta 368 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity endometrium(5)|lung(5)|skin(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TCTTCCCTTCCTTCTGCACTT 0.532000 43 188 0 0 1 0 0 BEND4 389206 broad.mit.edu 37 4 42145615 42145615 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr4:42145615G>A ENST00000502486.1 - 3 1463 c.884C>T c.(883-885)tCc>tTc p.S295F BEND4_ENST00000504360.1_Missense_Mutation_p.S291F NM_207406.3 NP_997289.2 Q6ZU67 BEND4_HUMAN BEN domain containing 4 295 NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 CGTTGCTGGGGAAGTCCAGCC 0.552000 6 6 0 0 1 0 0 ZAK 51776 broad.mit.edu 37 2 174125863 174125863 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:174125863G>A ENST00000375213.3 + 18 1627 c.1549G>A c.(1549-1551)Gag>Aag p.E517K MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.E517K|MLK7-AS1_ENST00000423106.2_RNA NM_016653.2 NP_057737.2 TGTCACATATGAGGTAAGCTC 0.403000 7 43 0 0 1 0 0 OR4K15 81127 broad.mit.edu 37 14 20444551 20444551 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr14:20444551G>A ENST00000305051.5 + 1 949 c.874G>A c.(874-876)Gac>Aac p.D292N NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) TTACTCAGTTGACAAAGTCCT 0.428000 37 82 0 0 1 0 0 ZKSCAN3 80317 broad.mit.edu 37 6 28333425 28333425 + Nonsense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:28333425C>G ENST00000377255.3 + 7 1277 c.980C>G c.(979-981)tCa>tGa p.S327* ZKSCAN3_ENST00000341464.5_Nonsense_Mutation_p.S179*|ZKSCAN3_ENST00000252211.2_Nonsense_Mutation_p.S327* NM_001242894.1 NP_001229823.1 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 327 positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1) 21 GCTCAAAGCTCAGGCCTGAGT 0.502000 19 40 0 0 1 0 0 LUZP4 51213 broad.mit.edu 37 X 114537871 114537871 + Nonsense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:114537871C>G ENST00000371920.3 + 3 237 c.230C>G c.(229-231)tCa>tGa p.S77* LUZP4_ENST00000451986.2_Intron NM_016383.3 NP_057467.1 Q9P127 LUZP4_HUMAN leucine zipper protein 4 77 nucleus endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 14 AAAGGCTACTCAAGATGCAGA 0.343000 29 86 0 0 1 0 0 RASSF3 283349 broad.mit.edu 37 12 65085310 65085310 + Missense_Mutation SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:65085310C>A ENST00000542104.1 + 4 638 c.518C>A c.(517-519)cCc>cAc p.P173H RASSF3_ENST00000336061.2_Missense_Mutation_p.P173H NM_178169.3 NP_835463.1 Q86WH2 RASF3_HUMAN Ras association (RalGDS/AF-6) domain family member 3 173 Ras-associating. signal transduction cytoplasm|microtubule identical protein binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132) GBM - Glioblastoma multiforme(28;0.0611) GTAGCAGGGCCCAGAACAGAC 0.448000 17 53 8.10497e-08 8.31978e-08 1 1 0 KRTAP4-3 85290 broad.mit.edu 37 17 39324303 39324303 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:39324303C>T ENST00000391356.2 - 1 121 c.122G>A c.(121-123)cGc>cAc p.R41H NM_033187.1 NP_149443.1 Q9BYR4 KRA43_HUMAN keratin associated protein 4-3 41 29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA]. keratin filament p.R41H(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 12 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) gcagctggggcggcagcagGT 0.652000 11 34 0 0 1 0 0 PELI1 57162 broad.mit.edu 37 2 64322060 64322060 + Missense_Mutation SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:64322060G>T ENST00000358912.4 - 7 1475 c.1033C>A c.(1033-1035)Ctg>Atg p.L345M NM_020651.3 NP_065702.2 Q96FA3 PELI1_HUMAN pellino E3 ubiquitin protein ligase 1 345 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 19 CCAAGCCACAGAGGAACATAG 0.493000 22 55 1.55469e-16 1.64624e-16 1 1 0 XPC 7508 broad.mit.edu 37 3 14207074 14207074 + Silent SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:14207074G>C ENST00000285021.7 - 6 847 c.633C>G c.(631-633)ctC>ctG p.L211L XPC_ENST00000449060.2_Silent_p.L174L NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 211 nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CTAGCAGGCAGAGAAGGTGAA 0.527000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 5 13 0 0 1 0 0 FEZF2 55079 broad.mit.edu 37 3 62358488 62358488 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:62358488C>T ENST00000283268.3 - 2 350 c.56G>A c.(55-57)gGa>gAa p.G19E FEZF2_ENST00000486811.1_Missense_Mutation_p.G19E|FEZF2_ENST00000475839.1_Missense_Mutation_p.G19E NM_018008.3 NP_060478.3 Q8TBJ5 FEZF2_HUMAN FEZ family zinc finger 2 19 transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1) 20 Lung SC(41;0.0262) BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957) CGGCGACGCTCCGGCGCGCGG 0.721000 5 10 0 0 1 0 0 SAMHD1 25939 broad.mit.edu 37 20 35545130 35545130 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr20:35545130C>G ENST00000262878.4 - 9 1256 c.1057G>C c.(1057-1059)Gat>Cat p.D353H SAMHD1_ENST00000373694.5_Missense_Mutation_p.D138H NM_015474.3 NP_056289.2 Q9Y3Z3 SAMH1_HUMAN SAM domain and HD domain 1 353 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) CTTACCTTATCTCTAGCACAA 0.368000 46 271 0 0 1 0 0 HIST1H1E 3008 broad.mit.edu 37 6 26156945 26156945 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:26156945G>C ENST00000304218.3 + 1 387 c.327G>C c.(325-327)aaG>aaC p.K109N NM_005321.2 NP_005312.1 P10412 H14_HUMAN histone cluster 1, H1e 109 H15. nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 AACTCAACAAGAAGGCGGCCT 0.622000 14 47 0 0 1 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37482402 37482402 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr22:37482402G>A ENST00000381792.2 - 8 1034 c.894C>T c.(892-894)atC>atT p.I298I TMPRSS6_ENST00000406856.1_Silent_p.I298I|TMPRSS6_ENST00000406725.1_Silent_p.I298I|TMPRSS6_ENST00000346753.3_Silent_p.I307I|TMPRSS6_ENST00000442782.2_Silent_p.I307I Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 307 CUB 1. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 CGACCGCCATGATGGCCCCCG 0.662000 7 3 0 0 1 0 0 GNGT2 2793 broad.mit.edu 37 17 47284217 47284217 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:47284217C>T ENST00000511277.1 - 4 291 c.112G>A c.(112-114)Gag>Aag p.E38K GNGT2_ENST00000515635.1_Missense_Mutation_p.E38K|GNGT2_ENST00000503070.1_Missense_Mutation_p.E38K|GNGT2_ENST00000300406.2_Missense_Mutation_p.E38K|GNGT2_ENST00000511673.1_Missense_Mutation_p.E38K|GNGT2_ENST00000507680.1_Missense_Mutation_p.E38K NM_001198756.1 NP_001185685.1 O14610 GBGT2_HUMAN guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 38 G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission extracellular region|heterotrimeric G-protein complex GTPase activity|signal transducer activity endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) TCCACGTACTCCTTGATTTCC 0.463000 25 56 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65246547 65246547 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr14:65246547C>T ENST00000389722.3 - 20 4422 c.4369G>A c.(4369-4371)Gag>Aag p.E1457K SPTB_ENST00000389720.3_Missense_Mutation_p.E1457K|SPTB_ENST00000556626.1_Missense_Mutation_p.E1457K|SPTB_ENST00000389721.5_Missense_Mutation_p.E1457K|SPTB_ENST00000542895.1_Missense_Mutation_p.E1457K NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1457 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton p.E1457*(1) breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) AACCGCTTCTCGATGCTCAAG 0.562000 35 120 0 0 1 0 0 SCUBE2 57758 broad.mit.edu 37 11 9055266 9055266 + Nonsense_Mutation SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:9055266C>A ENST00000457346.2 - 17 2154 c.2080G>T c.(2080-2082)Gag>Tag p.E694* SCUBE2_ENST00000450649.2_Nonsense_Mutation_p.E539*|SCUBE2_ENST00000309263.3_Nonsense_Mutation_p.E665*|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Intron Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 665 extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) TGTCCTTCCTCATTTTGGAAG 0.478000 51 60 7.05377e-20 7.51655e-20 1 1 0 APOB 338 broad.mit.edu 37 2 21246547 21246547 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:21246547C>T ENST00000233242.1 - 17 2581 c.2454G>A c.(2452-2454)agG>agA p.R818R NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 818 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTGAGCCCTTCCTGATGACCT 0.403000 10 27 0 0 1 0 0 OAS2 4939 broad.mit.edu 37 12 113444350 113444350 + Missense_Mutation SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:113444350C>A ENST00000392583.2 + 8 1808 c.1601C>A c.(1600-1602)tCc>tAc p.S534Y OAS2_ENST00000342315.4_Missense_Mutation_p.S534Y|RP1-71H24.1_ENST00000552784.1_RNA NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 534 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 TTCATTCGCTCCCGGCCCACC 0.468000 53 114 9.04393e-38 9.70921e-38 1 1 0 BPHL 670 broad.mit.edu 37 6 3123966 3123966 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:3123966C>T ENST00000380368.2 + 3 776 c.132C>T c.(130-132)caC>caT p.H44H BPHL_ENST00000380379.5_Silent_p.H61H|BPHL_ENST00000434640.1_Silent_p.H44H|BPHL_ENST00000380375.3_Silent_p.H44H Q86WA6 BPHL_HUMAN biphenyl hydrolase-like (serine hydrolase) 61 cellular amino acid metabolic process|response to toxin mitochondrion hydrolase activity endometrium(4)|kidney(1)|large_intestine(2)|lung(6) 13 Ovarian(93;0.0386) all_hematologic(90;0.108) AGGGAGATCACGCAGTCCTGC 0.458000 15 40 0 0 1 0 0 PLEKHH1 57475 broad.mit.edu 37 14 68029604 68029604 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr14:68029604C>T ENST00000329153.5 + 7 1388 c.1256C>T c.(1255-1257)tCa>tTa p.S419L NM_020715.2 NP_065766.1 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 419 cytoskeleton binding endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) CACCAGTTTTCATCCTGGGTA 0.587000 10 22 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21247964 21247964 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:21247964C>T ENST00000233242.1 - 16 2404 c.2277G>A c.(2275-2277)gaG>gaA p.E759E APOB_ENST00000399256.4_Silent_p.E759E NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 759 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TAATCAGCTTCTCAACACTGA 0.443000 19 46 0 0 1 0 0 KIF15 56992 broad.mit.edu 37 3 44816927 44816927 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:44816927C>G ENST00000326047.4 + 3 393 c.244C>G c.(244-246)Cag>Gag p.Q82E NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 82 Kinesin-motor. blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) GGATACCACTCAGGTAATGAT 0.463000 17 38 0 0 1 0 0 CCDC88A 55704 broad.mit.edu 37 2 55555447 55555447 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:55555447G>A ENST00000436346.1 - 17 3821 c.2980C>T c.(2980-2982)Cgc>Tgc p.R994C AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.R994C|CCDC88A_ENST00000413716.2_Missense_Mutation_p.R993C|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.R993C|AC012358.8_ENST00000594078.1_RNA NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 994 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 AGTTCTTGGCGCAATTGCTGG 0.274000 13 35 0 0 1 0 0 ZNF502 91392 broad.mit.edu 37 3 44762639 44762639 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:44762639G>C ENST00000296091.4 + 4 586 c.330G>C c.(328-330)ttG>ttC p.L110F ZNF502_ENST00000449836.1_Missense_Mutation_p.L110F|ZNF502_ENST00000436624.2_Missense_Mutation_p.L110F NM_001134440.1|NM_001282880.1|NM_033210.4 NP_001127912.1|NP_001269809.1|NP_149987.2 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 110 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) GCTTGCTTTTGACCTCAAGCC 0.383000 19 49 0 0 1 0 0 CYP4F8 11283 broad.mit.edu 37 19 15729039 15729039 + RNA SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:15729039C>G ENST00000441682.2 + 0 407 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 CTGTGCAGCTCTTGTAGTACT 0.517000 11 12 0 0 1 0 0 MMP14 4323 broad.mit.edu 37 14 23315062 23315062 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr14:23315062G>C ENST00000311852.6 + 10 1824 c.1563G>C c.(1561-1563)gaG>gaC p.E521D MMP14_ENST00000548162.1_Intron NM_004995.2 NP_004986.1 P50281 MMP14_HUMAN matrix metallopeptidase 14 (membrane-inserted) 521 extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) CTGAGGAGGAGACGGAGGTGA 0.682000 13 25 0 0 1 0 0 NR1I3 9970 broad.mit.edu 37 1 161203028 161203028 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:161203028C>T ENST00000367983.4 - 4 633 c.339G>A c.(337-339)ctG>ctA p.L113L NR1I3_ENST00000367979.2_Silent_p.L113L|NR1I3_ENST00000442691.2_Silent_p.L113L|NR1I3_ENST00000412844.2_Silent_p.L84L|NR1I3_ENST00000367980.2_Silent_p.L113L|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000515621.1_Silent_p.L38L|NR1I3_ENST00000367984.4_Silent_p.L113L|NR1I3_ENST00000504010.1_Silent_p.L84L|NR1I3_ENST00000505005.1_Silent_p.L113L|NR1I3_ENST00000437437.2_Silent_p.L84L|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508740.1_Silent_p.L84L|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000428574.2_Silent_p.L113L|NR1I3_ENST00000511676.1_Silent_p.L84L|NR1I3_ENST00000367981.3_Silent_p.L84L|NR1I3_ENST00000367982.4_Silent_p.L113L|NR1I3_ENST00000506209.1_Silent_p.L84L|NR1I3_ENST00000515452.1_Silent_p.L113L|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000512372.1_Silent_p.L84L|NR1I3_ENST00000367985.3_Silent_p.L113L Q14994 NR1I3_HUMAN nuclear receptor subfamily 1, group I, member 3 113 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 15 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) GTGTCCGGATCAGCTCTTCTT 0.577000 20 203 0 0 1 0 0 MS4A13 503497 broad.mit.edu 37 11 60292761 60292761 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:60292761C>G ENST00000378186.2 + 5 591 c.268C>G c.(268-270)Cat>Gat p.H90D MS4A13_ENST00000527948.1_Intron|MS4A13_ENST00000378185.2_Intron|MS4A13_ENST00000437058.2_Intron NM_001012417.2 NP_001012417.2 Q5J8X5 M4A13_HUMAN membrane-spanning 4-domains, subfamily A, member 13 90 integral to membrane endometrium(3)|large_intestine(1)|lung(2)|skin(2) 8 AGAGTTGTCTCATTTTAATTC 0.279000 24 58 0 0 1 0 0 MMP25 64386 broad.mit.edu 37 16 3107106 3107106 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:3107106C>T ENST00000336577.4 + 5 971 c.734C>T c.(733-735)tCa>tTa p.S245L RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA NM_022468.4 NP_071913.1 Q9NPA2 MMP25_HUMAN matrix metallopeptidase 25 245 inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 14 GGCCACTCCTCAGCCCCCAAC 0.642000 54 85 0 0 1 0 0 HS6ST2 90161 broad.mit.edu 37 X 132091164 132091164 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:132091164G>A ENST00000370836.2 - 3 1034 c.619C>T c.(619-621)Cgc>Tgc p.R207C HS6ST2_ENST00000370833.2_Missense_Mutation_p.R61C|HS6ST2_ENST00000521489.1_Missense_Mutation_p.R207C NM_147175.3 NP_671704.3 Q96MM7 H6ST2_HUMAN heparan sulfate 6-O-sulfotransferase 2 207 integral to membrane sulfotransferase activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2) 9 Acute lymphoblastic leukemia(192;0.000127) AAATTGTAGCGGGGCACGAAC 0.652000 9 24 0 0 1 0 0 AMOT 154796 broad.mit.edu 37 X 112048228 112048228 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:112048228G>A ENST00000371959.3 - 5 1722 c.1723C>T c.(1723-1725)Cga>Tga p.R575* AMOT_ENST00000371962.1_Nonsense_Mutation_p.R343*|AMOT_ENST00000371958.1_Nonsense_Mutation_p.R343*|AMOT_ENST00000524145.1_Nonsense_Mutation_p.R575*|AMOT_ENST00000304758.1_Nonsense_Mutation_p.R166* NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 575 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 GCCTGATCTCGGATTTCGATG 0.552000 10 170 0 0 1 0 0 SEPT3 55964 broad.mit.edu 37 22 42385679 42385679 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr22:42385679C>T ENST00000396425.3 + 6 791 c.660C>T c.(658-660)ttC>ttT p.F220F SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000396426.3_Silent_p.F220F|SEPT3_ENST00000406029.1_Silent_p.F156F|SEPT3_ENST00000291236.11_Silent_p.F156F NM_019106.5 NP_061979.3 Q9UH03 SEPT3_HUMAN septin 3 220 cell cycle|cytokinesis cell junction|septin complex GTP binding breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 AGTCTGAATTCAAGCAAAGGG 0.517000 20 33 0 0 1 0 0 ERO1LB 56605 broad.mit.edu 37 1 236389643 236389643 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:236389643G>A ENST00000354619.5 - 12 1179 c.978C>T c.(976-978)gtC>gtT p.V326V NM_019891.3 NP_063944.3 Q86YB8 ERO1B_HUMAN ERO1-like beta (S. cerevisiae) 326 electron transport chain|protein thiol-disulfide exchange|transport endoplasmic reticulum membrane flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1) 23 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219) OV - Ovarian serous cystadenocarcinoma(106;0.00162) TGTAAAGATCGACAATTGAGC 0.378000 13 93 0 0 1 0 0 UNCX 340260 broad.mit.edu 37 7 1273317 1273317 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:1273317G>A ENST00000316333.8 + 2 547 c.436G>A c.(436-438)Gag>Aag p.E146K NM_001080461.1 NP_001073930.1 A6NJT0 UNC4_HUMAN UNC homeobox 146 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(2)|skin(1)|upper_aerodigestive_tract(1) 4 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) AGACCTGGTCGAGTCCCGAGT 0.667000 24 42 0 0 1 0 0 SDCBP 6386 broad.mit.edu 37 8 59492300 59492300 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:59492300C>T ENST00000523483.1 + 8 2271 c.757C>T c.(757-759)Ctc>Ttc p.L253F SDCBP_ENST00000447267.2_Missense_Mutation_p.L179F|SDCBP_ENST00000424270.2_Missense_Mutation_p.L227F|SDCBP_ENST00000447182.2_Missense_Mutation_p.L232F|SDCBP_ENST00000520168.1_Missense_Mutation_p.L174F|SDCBP_ENST00000422546.2_Missense_Mutation_p.L232F|SDCBP_ENST00000260130.4_Missense_Mutation_p.L233F|SDCBP_ENST00000413219.2_Missense_Mutation_p.L233F O00560 SDCB1_HUMAN syndecan binding protein (syntenin) 233 PDZ 2. actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 8 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) AAATGGTCTTCTCACGGAACA 0.378000 10 88 0 0 1 0 0 USP54 159195 broad.mit.edu 37 10 75277138 75277138 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:75277138C>G ENST00000339859.4 - 19 3146 c.3046G>C c.(3046-3048)Gaa>Caa p.E1016Q RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.E104Q|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000422491.2_Missense_Mutation_p.E198Q|USP54_ENST00000408019.1_Missense_Mutation_p.E1016Q|USP54_ENST00000428547.1_Missense_Mutation_p.E866Q Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 1016 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) CCTCTTCCTTCTTGTGGAGGG 0.527000 21 72 0 0 1 0 0 SUPT20H 55578 broad.mit.edu 37 13 37603941 37603941 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr13:37603941G>A ENST00000360252.4 - 13 1204 c.957C>T c.(955-957)atC>atT p.I319I SUPT20H_ENST00000464744.1_Silent_p.I319I|SUPT20H_ENST00000542180.1_Intron|SUPT20H_ENST00000350612.6_Silent_p.I318I|SUPT20H_ENST00000356185.3_Silent_p.I319I|SUPT20H_ENST00000475892.1_Silent_p.I318I NM_001278481.1|NM_001278482.1|NM_017569.3 NP_001265410.1|NP_001265411.1|NP_060039.1 suppressor of Ty 20 homolog (S. cerevisiae) CATCAGATTTGATAGACTTTT 0.358000 21 33 0 0 1 0 0 EPCAM 4072 broad.mit.edu 37 2 47601063 47601063 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:47601063G>C ENST00000263735.4 + 3 659 c.301G>C c.(301-303)Gag>Cag p.E101Q EPCAM_ENST00000405271.1_Missense_Mutation_p.E129Q NM_002354.2 NP_002345.2 P16422 EPCAM_HUMAN epithelial cell adhesion molecule 101 Thyroglobulin type-1. positive regulation of cell proliferation apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction protein binding p.0?(2)|p.?(1) endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1) 15 TGACTGCGATGAGAGCGGGCT 0.507000 11 25 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131191267 131191267 + Splice_Site SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:131191267C>G ENST00000337057.3 - 15 2225 c.e15-1 EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000529208.1_Splice_Site|EPB41L2_ENST00000530481.1_Splice_Site|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000368128.2_Splice_Site|EPB41L2_ENST00000527659.1_Splice_Site|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000524581.1_Splice_Site|EPB41L2_ENST00000527411.1_Splice_Site NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 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) CATGTGAACTCTGTACAAAAA 0.363000 11 29 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150327218 150327218 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:150327218C>G ENST00000328902.5 - 2 229 c.13G>C c.(13-15)Gaa>Caa p.E5Q GIMAP6_ENST00000493969.1_Missense_Mutation_p.E5Q NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 5 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGTTCATATTCTTCTTCCTCC 0.423000 12 55 0 0 1 0 0 CXorf38 159013 broad.mit.edu 37 X 40506390 40506390 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:40506390G>A ENST00000327877.5 - 2 246 c.220C>T c.(220-222)Cag>Tag p.Q74* CXorf38_ENST00000378421.1_5'UTR|CXorf38_ENST00000378418.2_Nonsense_Mutation_p.Q74*|CXorf38_ENST00000378426.1_5'UTR|CXorf38_ENST00000440784.2_Intron NM_144970.2 NP_659407.1 Q8TB03 CX038_HUMAN chromosome X open reading frame 38 74 NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 12 CACTGAGGCTGAAACTACAGG 0.627000 17 32 0 0 1 0 0 DHX8 1659 broad.mit.edu 37 17 41585254 41585254 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:41585254C>T ENST00000262415.3 + 15 2259 c.2187C>T c.(2185-2187)ttC>ttT p.F729F DHX8_ENST00000540306.1_Silent_p.F729F NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 729 Helicase ATP-binding. catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) CTCAATACTTCTATGAAGCTC 0.438000 26 68 0 0 1 0 0 MSI2 124540 broad.mit.edu 37 17 55693436 55693436 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:55693436G>C ENST00000284073.2 + 9 852 c.643G>C c.(643-645)Ggg>Cgg p.G215R MSI2_ENST00000416426.2_Missense_Mutation_p.G193R|MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000579180.1_Missense_Mutation_p.G111R|MSI2_ENST00000322684.3_Missense_Mutation_p.G211R|MSI2_ENST00000442934.2_Missense_Mutation_p.G154R NM_138962.2 NP_620412.1 Q96DH6 MSI2H_HUMAN musashi RNA-binding protein 2 215 cytoplasm nucleotide binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1) 7 Breast(9;1.78e-08) GBM - Glioblastoma multiforme(1;0.0025) GCTTGGCATGGGGATGCTGGG 0.592000 T HOXA9 CML 26 38 0 0 1 0 0 BTG1 694 broad.mit.edu 37 12 92538201 92538201 + Missense_Mutation SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:92538201G>T ENST00000256015.3 - 2 532 c.171C>A c.(169-171)ttC>ttA p.F57L NM_001731.2 NP_001722.1 P62324 BTG1_HUMAN B-cell translocation gene 1, anti-proliferative 57 cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|transcription cofactor activity haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2) 16 Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09) GCTTTTCTGGGAACCAGTGAT 0.473000 T MYC BCLL OREG0022024 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 50 4.31634e-10 4.49024e-10 1 1 0 PRKRIR 5612 broad.mit.edu 37 11 76062333 76062333 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:76062333C>G ENST00000260045.3 - 5 1966 c.1861G>C c.(1861-1863)Gag>Cag p.E621Q NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 621 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 TGGTGTTCCTCCGACGTATTG 0.433000 4 376 0 0 1 0 0 MYO9B 4650 broad.mit.edu 37 19 17305933 17305933 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:17305933G>A ENST00000595618.1 + 22 3849 c.3697G>A c.(3697-3699)Gaa>Aaa p.E1233K MYO9B_ENST00000594824.1_Missense_Mutation_p.E1233K|MYO9B_ENST00000397274.2_Missense_Mutation_p.E1233K NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1233 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 GGTCTCTGAAGAAACTGAGAA 0.622000 4 11 0 0 1 0 0 ZNF689 115509 broad.mit.edu 37 16 30620934 30620934 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:30620934G>A ENST00000287461.3 - 2 568 c.231C>T c.(229-231)ctC>ctT p.L77L ZNF689_ENST00000566673.1_5'UTR NM_138447.1 NP_612456.1 Q96CS4 ZN689_HUMAN zinc finger protein 689 77 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1) 14 Colorectal(24;0.198) ACCAGGAGATGAGGGCTGGTT 0.572000 26 69 0 0 1 0 0 TTC3 7267 broad.mit.edu 37 21 38536402 38536402 + Missense_Mutation SNP C C T rs139881250 byFrequency TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr21:38536402C>T ENST00000399017.2 + 32 5967 c.3220C>T c.(3220-3222)Cgg>Tgg p.R1074W TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.R1074W|TTC3_ENST00000355666.1_Missense_Mutation_p.R1074W NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1074 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) TGACCATCTTCGGCAAGATGT 0.408000 9 64 0 0 1 0 0 CLEC1A 51267 broad.mit.edu 37 12 10233965 10233965 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:10233965G>C ENST00000315330.4 - 3 324 c.262C>G c.(262-264)Caa>Gaa p.Q88E CLEC1A_ENST00000420265.2_Intron|CLEC1A_ENST00000457018.2_Missense_Mutation_p.Q55E NM_016511.2 NP_057595.2 Q8NC01 CLC1A_HUMAN C-type lectin domain family 1, member A 88 cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 23 TCTTCCATTTGAGAAATGGTG 0.398000 18 29 0 0 1 0 0 BNIP3P1 319138 broad.mit.edu 37 14 28733713 28733713 + RNA SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr14:28733713C>T ENST00000550043.1 + 0 118 GAAGCACATCCCGCAGCCCGG 0.756000 3 6 0 0 1 0 0 ZAK 51776 broad.mit.edu 37 2 174125838 174125838 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:174125838G>C ENST00000375213.3 + 18 1602 c.1524G>C c.(1522-1524)caG>caC p.Q508H MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.Q508H|MLK7-AS1_ENST00000423106.2_RNA NM_016653.2 NP_057737.2 CAAAAAGTCAGACTGTGGAGT 0.418000 12 44 0 0 1 0 0 ANO5 203859 broad.mit.edu 37 11 22277027 22277027 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:22277027G>A ENST00000324559.8 + 13 1608 c.1291G>A c.(1291-1293)Gaa>Aaa p.E431K NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 431 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ACCAGAATTTGAAGCTATGTG 0.428000 21 296 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121237430 121237430 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:121237430C>G ENST00000297848.3 + 15 2111 c.1841C>G c.(1840-1842)cCt>cGt p.P614R COL14A1_ENST00000309791.4_Missense_Mutation_p.P614R|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.P519R NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 614 Fibronectin type-III 4. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CAGTCAGAGCCTCTGACTGGA 0.423000 21 36 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167083028 167083028 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:167083028G>C ENST00000361200.2 + 3 358 c.192G>C c.(190-192)caG>caC p.Q64H DUSP27_ENST00000271385.5_Missense_Mutation_p.Q64H|DUSP27_ENST00000443333.1_Missense_Mutation_p.Q64H Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 64 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CAGCCAAACAGATCATCAATG 0.473000 118 192 0 0 1 0 0 PARD3B 117583 broad.mit.edu 37 2 206023476 206023476 + Missense_Mutation SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:206023476C>A ENST00000406610.2 + 11 1672 c.1465C>A c.(1465-1467)Ctg>Atg p.L489M PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000351153.1_Missense_Mutation_p.L489M|PARD3B_ENST00000462231.1_Missense_Mutation_p.L489M|PARD3B_ENST00000349953.3_Missense_Mutation_p.L489M NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 489 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) TGCACTCTCTCTGGAGACAAG 0.468000 37 89 5.78141e-17 6.14123e-17 1 1 0 CD1E 913 broad.mit.edu 37 1 158325250 158325250 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:158325250C>G ENST00000444681.2 + 2 512 c.219C>G c.(217-219)ctC>ctG p.L73L CD1E_ENST00000368167.3_Silent_p.L172L|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368163.3_Silent_p.L172L|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368160.3_Silent_p.L172L|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000434258.1_Silent_p.L170L|CD1E_ENST00000368161.3_Silent_p.L172L|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368166.3_Intron NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 172 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) GTAAAGTGCTCAATCGCTACC 0.498000 31 58 0 0 1 0 0 GINM1 116254 broad.mit.edu 37 6 149901794 149901794 + Nonsense_Mutation SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:149901794G>T ENST00000367419.5 + 6 773 c.652G>T c.(652-654)Gaa>Taa p.E218* NM_138785.3 NP_620140.1 glycoprotein integral membrane 1 CACTGTAGATGAAGATGTTTT 0.408000 23 50 3.5997e-14 3.79968e-14 1 1 0 CARF 79800 broad.mit.edu 37 2 203820396 203820396 + Splice_Site SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:203820396G>T ENST00000402905.3 + 7 878 c.e7-1 CARF_ENST00000320443.8_Splice_Site|CARF_ENST00000444724.1_Splice_Site|CARF_ENST00000428585.1_Splice_Site|CARF_ENST00000471271.1_Splice_Site|CARF_ENST00000434998.1_Splice_Site|CARF_ENST00000438828.2_Splice_Site|CARF_ENST00000545253.1_Splice_Site|WDR12_ENST00000477723.1_Intron|CARF_ENST00000456821.2_Splice_Site|CARF_ENST00000414439.1_Splice_Site|CARF_ENST00000545262.1_Splice_Site NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1 NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1 calcium responsive transcription factor TCCTATCCCAGAATGCTGGAA 0.398000 14 44 0.000219431 0.000221855 1 1 0 FREM2 341640 broad.mit.edu 37 13 39262679 39262679 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr13:39262679G>A ENST00000280481.7 + 1 1414 c.1198G>A c.(1198-1200)Gaa>Aaa p.E400K NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 400 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GCCCCCTTCTGAAGACTCTGA 0.557000 12 81 0 0 1 0 0 ZNF335 63925 broad.mit.edu 37 20 44577852 44577852 + Silent SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr20:44577852G>T ENST00000322927.2 - 27 3958 c.3858C>A c.(3856-3858)gtC>gtA p.V1286V ZNF335_ENST00000426788.1_Silent_p.V1131V NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 1286 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) GAGCCTGTGTGACAAGCTGCT 0.592000 8 22 1.06961e-07 1.09573e-07 1 1 0 COL4A1 1282 broad.mit.edu 37 13 110829254 110829254 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr13:110829254C>T ENST00000375820.4 - 34 2968 c.2847G>A c.(2845-2847)caG>caA p.Q949Q NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 949 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GGTCTCCTTTCTGGCCCTTCA 0.557000 23 54 0 0 1 0 0 HNRNPUL1 11100 broad.mit.edu 37 19 41800562 41800562 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:41800562C>T ENST00000392006.3 + 10 1662 c.1489C>T c.(1489-1491)Cgc>Tgc p.R497C HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R497C|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R397C|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R383C|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R397C|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R408C|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R397C NM_007040.3 NP_008971.2 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 497 Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 29 GATTGCTGCCCGCAAGAAACG 0.572000 36 17 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53726146 53726146 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:53726146C>T ENST00000262135.4 - 4 454 c.361G>A c.(361-363)Gag>Aag p.E121K RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.E121K|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E121K|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E121K NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 121 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) TTTTCAAGCTCATGAACTTTC 0.443000 56 129 0 0 1 0 0 TSPYL2 64061 broad.mit.edu 37 X 53115045 53115045 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:53115045G>A ENST00000375442.4 + 6 1603 c.1471G>A c.(1471-1473)Gag>Aag p.E491K NM_022117.3 NP_071400.1 Q9H2G4 TSYL2_HUMAN TSPY-like 2 491 Asn-rich. cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus protein binding|rDNA binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 19 CCCcaacaacgagaccactga 0.463000 10 31 0 0 1 0 0 PHLPP2 23035 broad.mit.edu 37 16 71683215 71683215 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:71683215G>A ENST00000393524.2 - 17 4082 c.3349C>T c.(3349-3351)Cct>Tct p.P1117S PHLPP2_ENST00000356272.3_Missense_Mutation_p.P1184S|PHLPP2_ENST00000567016.1_Missense_Mutation_p.P1219S|PHLPP2_ENST00000568954.1_Missense_Mutation_p.P1184S|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 1184 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 TCTATGAGAGGGGGTGAGTTC 0.532000 25 99 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135427505 135427505 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:135427505C>T ENST00000394143.1 + 6 1931 c.1640C>T c.(1639-1641)tCc>tTc p.S547F GPR112_ENST00000287534.4_Missense_Mutation_p.S484F|GPR112_ENST00000394141.1_Missense_Mutation_p.S342F|GPR112_ENST00000412101.1_Missense_Mutation_p.S342F|GPR112_ENST00000370652.1_Missense_Mutation_p.S547F NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 547 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ATGTCTACTTCCATGTCGAAA 0.423000 19 54 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154132253 154132253 + Missense_Mutation SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:154132253G>T ENST00000360256.4 - 18 6126 c.5926C>A c.(5926-5928)Cat>Aat p.H1976N NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1976 F5/8 type A 3.|Plastocyanin-like 6. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CCACTGAAATGAATAGAATGG 0.403000 26 71 3.28513e-13 3.46038e-13 1 1 0 SRRT 51593 broad.mit.edu 37 7 100473224 100473224 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:100473224G>A ENST00000388793.4 + 2 233 c.13G>A c.(13-15)Gat>Aat p.D5N SRRT_ENST00000432932.1_Missense_Mutation_p.D5N|SRRT_ENST00000457580.2_Missense_Mutation_p.D5N|SRRT_ENST00000347433.4_Missense_Mutation_p.D5N NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 5 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GGGTGACAGTGATGACGAGTA 0.632000 7 54 0 0 1 0 0 ARHGEF18 23370 broad.mit.edu 37 19 7505313 7505313 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:7505313C>G ENST00000359920.6 + 1 740 c.487C>G c.(487-489)Cag>Gag p.Q163E CTD-2207O23.3_ENST00000593531.1_Silent_p.L120L|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.Q5E NM_001130955.1 NP_001124427.1 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 18 163 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 23 Renal(5;0.0902) GACGGTCTCTCAGAAAGGGGG 0.677000 7 23 0 0 1 0 0 ATRAID 51374 broad.mit.edu 37 2 27438518 27438518 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:27438518C>G ENST00000380171.3 + 5 726 c.549C>G c.(547-549)gtC>gtG p.V183V ATRAID_ENST00000606999.1_Silent_p.V128V|ATRAID_ENST00000405489.3_Silent_p.V70V NM_080592.3 NP_542159.3 all-trans retinoic acid-induced differentiation factor CACAACATGTCAACTGTCCTG 0.418000 48 126 0 0 1 0 0 NUDT16L1 84309 broad.mit.edu 37 16 4745141 4745141 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:4745141G>A ENST00000304301.6 + 3 630 c.597G>A c.(595-597)caG>caA p.Q199Q NUDT16L1_ENST00000586252.1_Silent_p.Q159Q|NUDT16L1_ENST00000405142.1_3'UTR|NUDT16L1_ENST00000586536.1_3'UTR NM_032349.3 NP_115725.1 Q9BRJ7 SDOS_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1 199 Interaction with PXN (By similarity). cytoplasm hydrolase activity endometrium(1)|large_intestine(1)|lung(1)|skin(1) 4 CCGAGAAGCAGAAGAAGGCCC 0.617000 25 56 0 0 1 0 0 BNC1 646 broad.mit.edu 37 15 83932769 83932769 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:83932769G>C ENST00000345382.2 - 4 1319 c.1234C>G c.(1234-1236)Cgg>Ggg p.R412G BNC1_ENST00000569704.1_Missense_Mutation_p.R405G|RP11-382A20.4_ENST00000565495.1_RNA NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 412 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 ATGTGCAGCCGAGGGTTGGGG 0.532000 42 87 0 0 1 0 0 PTPRR 5801 broad.mit.edu 37 12 71148004 71148004 + Silent SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:71148004G>C ENST00000283228.2 - 5 1157 c.705C>G c.(703-705)ctC>ctG p.L235L PTPRR_ENST00000378778.1_Silent_p.L29L|PTPRR_ENST00000549308.1_5'UTR|PTPRR_ENST00000440835.2_5'UTR|PTPRR_ENST00000342084.4_Silent_p.L123L NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 235 in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) CAAAGATGCTGAGAAAAATGA 0.353000 19 49 0 0 1 0 0 AKT3 10000 broad.mit.edu 37 1 243858964 243858964 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:243858964G>A ENST00000366539.1 - 3 301 c.101C>T c.(100-102)tCa>tTa p.S34L AKT3_ENST00000366540.1_Missense_Mutation_p.S34L|AKT3_ENST00000336199.5_Missense_Mutation_p.S34L|AKT3_ENST00000263826.5_Missense_Mutation_p.S34L Q9Y243 AKT3_HUMAN v-akt murine thymoma viral oncogene homolog 3 34 PH. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) TCCTATGAATGAGCCATCTGT 0.353000 18 30 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4285427 4285427 + Nonsense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:4285427C>G ENST00000404826.2 + 44 6510 c.6371C>G c.(6370-6372)tCa>tGa p.S2124* SDK1_ENST00000389531.3_Nonsense_Mutation_p.S2104*|SDK1_ENST00000466611.1_3'UTR NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 2124 cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GCAGATGCATCAGAATCTGAG 0.582000 13 33 0 0 1 0 0 ILDR2 387597 broad.mit.edu 37 1 166891838 166891838 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:166891838G>A ENST00000271417.3 - 8 1258 c.1203C>T c.(1201-1203)ttC>ttT p.F401F ILDR2_ENST00000529071.1_Silent_p.F382F|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000525740.1_Silent_p.F274F|ILDR2_ENST00000528703.1_Silent_p.F342F|ILDR2_ENST00000469934.2_Silent_p.F401F|ILDR2_ENST00000526687.1_Silent_p.F293F NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 401 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 ACCTGTGCCTGAAGCTCTCTC 0.592000 30 287 0 0 1 0 0 ELF3 1999 broad.mit.edu 37 1 201984394 201984394 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:201984394G>C ENST00000359651.3 + 8 4251 c.1059G>C c.(1057-1059)aaG>aaC p.K353N ELF3_ENST00000367284.5_Missense_Mutation_p.K353N|ELF3_ENST00000367283.3_Missense_Mutation_p.K353N|RP11-510N19.5_ENST00000504773.1_RNA P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 353 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 TCGTCTACAAGTTTGGCAAAA 0.542000 34 53 0 0 1 0 0 SBNO1 55206 broad.mit.edu 37 12 123780593 123780593 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:123780593C>G ENST00000420886.2 - 31 4043 c.4044G>C c.(4042-4044)ttG>ttC p.L1348F SBNO1_ENST00000267176.4_Missense_Mutation_p.L1347F|SBNO1_ENST00000602750.1_Missense_Mutation_p.L1347F|SBNO1_ENST00000602398.1_Missense_Mutation_p.L1348F NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1348 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CCGGAATGATCAAACCTGTAA 0.413000 32 60 0 0 1 0 0 VWA2 340706 broad.mit.edu 37 10 116049005 116049005 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:116049005G>A ENST00000603594.1 + 12 2200 c.1879G>A c.(1879-1881)Ggt>Agt p.G627S VWA2_ENST00000392982.3_Missense_Mutation_p.G627S NM_001272046.1 NP_001258975.1 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 627 VWFA 3. extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) CGTCCAGAGGGGTGCCCGGCC 0.642000 4 6 0 0 1 0 0 SYNDIG1 79953 broad.mit.edu 37 20 24646031 24646031 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr20:24646031C>G ENST00000376862.3 + 4 1301 c.668C>G c.(667-669)tCc>tGc p.S223C NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 223 response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 AGCACCAGCTCCCGGCGGGCC 0.582000 72 42 0 0 1 0 0 MGAT4B 11282 broad.mit.edu 37 5 179228820 179228820 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr5:179228820C>G ENST00000337755.5 - 1 1178 c.292G>C c.(292-294)Gac>Cac p.D98H MGAT4B_ENST00000292591.7_Missense_Mutation_p.D83H|MGAT4B_ENST00000521305.1_5'UTR NM_054013.3 NP_463459.1 Q9UQ53 MGT4B_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B 83 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 13 all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCGTCTCCGTCTCGCAGCGCC 0.652000 OREG0017110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 8 0 0 1 0 0 MSH4 4438 broad.mit.edu 37 1 76313930 76313930 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:76313930C>G ENST00000263187.3 + 8 1303 c.1199C>G c.(1198-1200)tCt>tGt p.S400C NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 400 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 CAGCTTCTTTCTGTTTTAGTC 0.274000 Mismatch excision repair (MMR) 31 66 0 0 1 0 0 PPARD 5467 broad.mit.edu 37 6 35391853 35391853 + Silent SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:35391853C>A ENST00000311565.4 + 7 904 c.555C>A c.(553-555)gcC>gcA p.A185A PPARD_ENST00000360694.3_Silent_p.A185A|PPARD_ENST00000448077.2_Silent_p.A146A|PPARD_ENST00000444397.1_Silent_p.A185A|PPARD_ENST00000337400.2_Silent_p.A185A|PPARD_ENST00000540939.1_Silent_p.A82A|PPARD_ENST00000418635.2_Silent_p.A87A NM_001171818.1 NP_001165289.1 Q03181 PPARD_HUMAN peroxisome proliferator-activated receptor delta 185 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) TCTACAATGCCTACCTGAAAA 0.572000 19 45 4.35082e-09 4.49361e-09 1 1 0 GSTK1 373156 broad.mit.edu 37 7 142965881 142965881 + Splice_Site SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:142965881G>C ENST00000479303.1 + 7 858 c.800G>C c.(799-801)gGa>gCa p.G267A AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000409500.3_Splice_Site_p.G199A|GSTK1_ENST00000443571.2_Splice_Site_p.G168A|GSTK1_ENST00000358406.5_Splice_Site_p.G211A NM_001143679.1 NP_001137151.1 Q9Y2Q3 GSTK1_HUMAN glutathione S-transferase kappa 1 211 outer membrane-bounded periplasmic space|peroxisome glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity lung(4) 4 Melanoma(164;0.059) Glutathione(DB00143) CTTCATCCAGGAGAGAAGTGG 0.493000 9 28 0 0 1 0 0 OR5A1 219982 broad.mit.edu 37 11 59211339 59211339 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:59211339C>T ENST00000302030.2 + 1 723 c.698C>T c.(697-699)tCa>tTa p.S233L NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 AAGATCCCTTCAGCAGAGGGC 0.542000 61 91 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35835331 35835331 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:35835331C>G ENST00000187397.4 + 20 2776 c.2320C>G c.(2320-2322)Cag>Gag p.Q774E ARPP21_ENST00000417925.1_Missense_Mutation_p.Q775E|ARPP21_ENST00000444190.1_Missense_Mutation_p.Q755E|ARPP21_ENST00000337271.5_Missense_Mutation_p.Q755E|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000458225.1_Missense_Mutation_p.Q775E NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 774 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 GCCCACCCCTCAGAACAACCT 0.537000 20 41 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146829353 146829353 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:146829353C>G ENST00000361727.3 + 8 1616 c.1100C>G c.(1099-1101)tCt>tGt p.S367C NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 367 Laminin G-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TTGAGCTTTTCTTGTGTGGAA 0.438000 HNSCC(39;0.1) 46 83 0 0 1 0 0 SERTAD2 9792 broad.mit.edu 37 2 64863099 64863099 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:64863099C>G ENST00000313349.3 - 2 1204 c.907G>C c.(907-909)Gag>Cag p.E303Q NM_014755.2 NP_055570.1 Q14140 SRTD2_HUMAN SERTA domain containing 2 303 negative regulation of cell growth|transcription, DNA-dependent cytoplasm|nucleus breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1) 12 TGGTCCAGCTCTGTGAGGTCC 0.562000 9 58 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152082861 152082861 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:152082861C>G ENST00000368804.1 - 2 2831 c.2832G>C c.(2830-2832)ctG>ctC p.L944L NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 944 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding p.L944L(1) NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTTCCTCTCTCAGCAGCTGCT 0.562000 98 197 0 0 1 0 0 DIP2B 57609 broad.mit.edu 37 12 51080434 51080434 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:51080434C>T ENST00000301180.5 + 12 1554 c.1520C>T c.(1519-1521)tCa>tTa p.S507L NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 507 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 CCACACATCTCACCTGCTGGG 0.453000 3 29 0 0 1 0 0 CYP4F8 11283 broad.mit.edu 37 19 15728951 15728951 + RNA SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:15728951C>T ENST00000441682.2 + 0 403 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 TCATCAATACCTCAGGTACTC 0.547000 15 98 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189899696 189899696 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:189899696G>C ENST00000374866.3 - 53 4573 c.4299C>G c.(4297-4299)atC>atG p.I1433M NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 1433 Fibrillar collagen NC1. axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCTCTGCTTTGATATCTAAGT 0.363000 11 103 0 0 1 0 0 ANKRD12 23253 broad.mit.edu 37 18 9257709 9257709 + Missense_Mutation SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr18:9257709C>A ENST00000262126.4 + 9 4684 c.4444C>A c.(4444-4446)Ccg>Acg p.P1482T ANKRD12_ENST00000383440.2_Missense_Mutation_p.P1459T|ANKRD12_ENST00000400020.3_Missense_Mutation_p.P1459T NM_015208.4 NP_056023.3 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 TGCTCAGGATCCGGCATCCTT 0.418000 14 55 9.16793e-09 9.44944e-09 1 1 0 ZNF106 64397 broad.mit.edu 37 15 42714754 42714754 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:42714754C>T ENST00000263805.4 - 15 5575 c.5249G>A c.(5248-5250)gGa>gAa p.G1750E ZNF106_ENST00000565380.1_Missense_Mutation_p.G978E|ZNF106_ENST00000565611.1_Missense_Mutation_p.G935E|ZNF106_ENST00000565660.1_5'UTR NM_001284306.1|NM_001284307.1|NM_022473.1 NP_001271235.1|NP_001271236.1|NP_071918.1 zinc finger protein 106 CATCACTTTTCCTAGGATATT 0.408000 18 35 0 0 1 0 0 SMC3 9126 broad.mit.edu 37 10 112360819 112360819 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:112360819C>G ENST00000361804.4 + 23 2701 c.2575C>G c.(2575-2577)Ctc>Gtc p.L859V NM_005445.3 NP_005436.1 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 859 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) GGGTACTGTTCTCACAGCCAC 0.343000 33 69 0 0 1 0 0 CXCL12 6387 broad.mit.edu 37 10 44871472 44871472 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:44871472C>T ENST00000374426.2 - 4 312 c.275G>A c.(274-276)aGa>aAa p.R92K CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000395795.4_Intron NM_001033886.2 NP_001029058.1 P48061 SDF1_HUMAN chemokine (C-X-C motif) ligand 12 0 blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus extracellular space chemokine activity|growth factor activity|signal transducer activity endometrium(1)|large_intestine(1)|lung(3)|skin(1) 6 Dexamethasone(DB01234) TTTTTCTTCTCTGCGCCCCCT 0.398000 25 79 0 0 1 0 0 KCNC3 3748 broad.mit.edu 37 19 50827183 50827183 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:50827183C>T ENST00000376959.2 - 2 1190 c.1027G>A c.(1027-1029)Gag>Aag p.E343K KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000477616.1_Missense_Mutation_p.E343K|KCNC3_ENST00000474951.1_Intron Q14003 KCNC3_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 3 343 cell death voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1) 13 all_neural(266;0.057)|Ovarian(192;0.208) OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181) GGCTCCGTCTCCACCTCCACG 0.597000 6 40 0 0 1 0 0 FBXL18 80028 broad.mit.edu 37 7 5540382 5540382 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:5540382G>A ENST00000382368.3 - 3 1641 c.1518C>T c.(1516-1518)atC>atT p.I506I FBXL18_ENST00000453700.3_Silent_p.I506I NM_024963.4 NP_079239.3 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 506 FBXL18/RNF216(2) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3) 21 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) GCGAGTTGCGGATGGCGGGCT 0.667000 5 13 0 0 1 0 0 AMD1 262 broad.mit.edu 37 6 111213515 111213515 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:111213515C>T ENST00000368885.3 + 6 820 c.484C>T c.(484-486)Ctg>Ttg p.L162L AMD1_ENST00000368876.1_Silent_p.L93L|AMD1_ENST00000368877.5_Silent_p.L133L|AMD1_ENST00000368882.3_Silent_p.L14L|AMD1_ENST00000451850.2_Silent_p.L42L NM_001634.4 NP_001625.2 P17707 DCAM_HUMAN adenosylmethionine decarboxylase 1 162 spermidine biosynthetic process|spermine biosynthetic process cytosol adenosylmethionine decarboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2) 8 all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143) S-Adenosylmethionine(DB00118) CTTATATACTCTGGATTTCCC 0.353000 22 68 0 0 1 0 0 PPP1R26 9858 broad.mit.edu 37 9 138377703 138377703 + Silent SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr9:138377703C>A ENST00000356818.2 + 4 1896 c.1347C>A c.(1345-1347)ctC>ctA p.L449L PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Silent_p.L449L|PPP1R26_ENST00000604351.1_Silent_p.L449L|PPP1R26_ENST00000401470.3_Silent_p.L449L|PPP1R26_ENST00000605660.1_Silent_p.L449L NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 449 nucleolus protein binding CCCCCAAGCTCCTGAAGGAAA 0.602000 17 9 3.41278e-10 3.55395e-10 1 1 0 SLC2A10 81031 broad.mit.edu 37 20 45355615 45355615 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr20:45355615C>T ENST00000359271.2 + 3 1651 c.1401C>T c.(1399-1401)ctC>ctT p.L467L NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 467 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) TCTCCTTCCTCGATCTCATTG 0.493000 63 57 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179427150 179427150 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:179427150C>G ENST00000589042.1 - 326 83933 c.83709G>C c.(83707-83709)caG>caC p.Q27903H TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q18963H|TTN_ENST00000460472.2_Missense_Mutation_p.Q18838H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q25335H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q26262H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q19030H NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26262 Fibronectin type-III 103. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCCTTTAGTCTGCATTTCAA 0.423000 19 29 0 0 1 0 0 TTI2 80185 broad.mit.edu 37 8 33367320 33367320 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:33367320G>A ENST00000431156.2 - 3 1396 c.778C>T c.(778-780)Cag>Tag p.Q260* TTI2_ENST00000360742.5_Nonsense_Mutation_p.Q260*|TTI2_ENST00000520636.1_Nonsense_Mutation_p.Q260* NM_001102401.2 NP_001095871.1 Q6NXR4 CH041_HUMAN TELO2 interacting protein 2 260 binding TTCTCAGTCTGATAGTCATCT 0.483000 25 43 0 0 1 0 0 RGS3 5998 broad.mit.edu 37 9 116224332 116224332 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr9:116224332C>G ENST00000374140.2 + 4 475 c.266C>G c.(265-267)tCt>tGt p.S89C RGS3_ENST00000350696.5_Missense_Mutation_p.S89C NM_001282923.1|NM_144488.4 NP_001269852.1|NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 89 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 AGTGTCCTCTCTACATCCTGT 0.547000 66 48 0 0 1 0 0 PNLIP 5406 broad.mit.edu 37 10 118314780 118314780 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:118314780C>T ENST00000369221.2 + 7 690 c.662C>T c.(661-663)aCg>aTg p.T221M NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase 221 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity p.T221K(2) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) GTAATTCACACGGATGGTGCC 0.483000 18 27 0 0 1 0 0 SPATA32 124783 broad.mit.edu 37 17 43332860 43332860 + Nonsense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:43332860G>C ENST00000543122.1 - 6 1407 c.626C>G c.(625-627)tCa>tGa p.S209* MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|SPATA32_ENST00000331780.4_Nonsense_Mutation_p.S230*|MAP3K14-AS1_ENST00000588504.1_RNA spermatogenesis associated 32 CGGGAGATCTGAGGACAGGAG 0.612000 13 17 0 0 1 0 0 PDE11A 50940 broad.mit.edu 37 2 178762916 178762916 + Missense_Mutation SNP C C G rs78426895 TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:178762916C>G ENST00000286063.6 - 4 1488 c.1171G>C c.(1171-1173)Gag>Cag p.E391Q PDE11A_ENST00000449286.2_Missense_Mutation_p.E33Q|PDE11A_ENST00000358450.4_Missense_Mutation_p.E141Q|PDE11A_ENST00000409504.1_Missense_Mutation_p.E33Q|PDE11A_ENST00000497003.1_5'UTR NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) TTAACCACCTCTAGCAAAGCC 0.343000 Primary Pigmented Nodular Adrenocortical Disease, Familial 17 32 0 0 1 0 0 EMID1 129080 broad.mit.edu 37 22 29627030 29627030 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr22:29627030G>C ENST00000334018.6 + 6 675 c.487G>C c.(487-489)Gag>Cag p.E163Q EMID1_ENST00000404820.3_Missense_Mutation_p.E163Q|EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404755.3_Missense_Mutation_p.E163Q NM_001267895.1|NM_133455.3 NP_001254824.1|NP_597712.2 Q96A84 EMID1_HUMAN EMI domain containing 1 161 collagen NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3) 12 GACTGTCATAGAGCAGCCAGT 0.607000 12 53 0 0 1 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27538171 27538171 + RNA SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:27538171C>G ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA GTTGAGGTCTCCTCCGTGGTT 0.522000 19 102 0 0 1 0 0 EPB41 2035 broad.mit.edu 37 1 29319902 29319902 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:29319902G>C ENST00000343067.4 + 3 656 c.529G>C c.(529-531)Gaa>Caa p.E177Q EPB41_ENST00000373798.1_Missense_Mutation_p.E177Q|EPB41_ENST00000373797.1_Missense_Mutation_p.E177Q|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.E177Q|EPB41_ENST00000356093.2_Missense_Mutation_p.E177Q|EPB41_ENST00000347529.3_Missense_Mutation_p.E177Q NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 177 blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) AGAAGGACTTGAAGAGTGCTC 0.378000 26 90 0 0 1 0 0 MSN 4478 broad.mit.edu 37 X 64959737 64959737 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:64959737C>T ENST00000360270.5 + 13 1888 c.1716C>T c.(1714-1716)gaC>gaT p.D572D NM_002444.2 NP_002435.1 P26038 MOES_HUMAN moesin 572 leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton p.D572D(1) MSN/ALK(6) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 43 AGCGCATTGACGAATTTGAGT 0.532000 T ALK ALCL 19 48 0 0 1 0 0 PPP2R5B 5526 broad.mit.edu 37 11 64698935 64698935 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:64698935G>C ENST00000164133.2 + 9 1541 c.919G>C c.(919-921)Gag>Cag p.E307Q NM_006244.3 NP_006235.1 Q15173 2A5B_HUMAN protein phosphatase 2, regulatory subunit B', beta 307 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2) 21 GCAGTTCCTGGAGAAGGATGC 0.597000 6 16 0 0 1 0 0 SCAF1 58506 broad.mit.edu 37 19 50154448 50154448 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:50154448G>C ENST00000360565.3 + 7 926 c.802G>C c.(802-804)Gag>Cag p.E268Q NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 268 Glu-rich. mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) CCCCTCACCTgaggaggaaga 0.617000 29 12 0 0 1 0 0 EVI2B 2124 broad.mit.edu 37 17 29632166 29632166 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:29632166C>T ENST00000330927.4 - 2 616 c.462G>A c.(460-462)caG>caA p.Q154Q EVI2B_ENST00000577894.1_Silent_p.Q154Q|NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron|EVI2B_ENST00000544462.1_Silent_p.Q169Q NM_006495.3 NP_006486.3 P34910 EVI2B_HUMAN ecotropic viral integration site 2B 154 cytoplasm|integral to plasma membrane p.0?(8)|p.?(3) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184) TAGAAGGGATCTGGACAGATG 0.393000 49 81 0 0 1 0 0 DOCK9 23348 broad.mit.edu 37 13 99508187 99508187 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr13:99508187C>T ENST00000376460.1 - 34 3876 c.3796G>A c.(3796-3798)Gaa>Aaa p.E1266K DOCK9_ENST00000339416.2_Missense_Mutation_p.E1267K|DOCK9_ENST00000448493.2_Missense_Mutation_p.E1278K NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1267 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CTATTCCTTTCTGGAAGGCTG 0.398000 36 72 0 0 1 0 0 CYP4F8 11283 broad.mit.edu 37 19 15729015 15729015 + RNA SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:15729015C>G ENST00000441682.2 + 0 407 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 TTCTAGATCTCATCCCCAAAG 0.537000 22 20 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5406807 5406807 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr18:5406807G>A ENST00000341928.2 - 16 2658 c.2318C>T c.(2317-2319)gCc>gTc p.A773V EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Missense_Mutation_p.A45V|EPB41L3_ENST00000540638.2_Missense_Mutation_p.A592V|EPB41L3_ENST00000427684.2_Missense_Mutation_p.A45V|EPB41L3_ENST00000544123.1_Missense_Mutation_p.A604V|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A773V|EPB41L3_ENST00000400111.3_Missense_Mutation_p.A592V NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 773 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 GATCATGGGGGCATCCTCCTG 0.537000 22 51 0 0 1 0 0 SETX 23064 broad.mit.edu 37 9 135211731 135211731 + Missense_Mutation SNP G G C rs141974509 TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr9:135211731G>C ENST00000372169.2 - 6 852 c.670C>G c.(670-672)Ctg>Gtg p.L224V SETX_ENST00000224140.5_Missense_Mutation_p.L224V|SETX_ENST00000393220.1_Missense_Mutation_p.L224V Q7Z333 SETX_HUMAN senataxin 224 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TGTGAGGGCAGAAGAATCAGT 0.348000 18 22 0 0 1 0 0 UNC5C 8633 broad.mit.edu 37 4 96137275 96137275 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr4:96137275C>T ENST00000506749.1 - 11 2138 c.1790G>A c.(1789-1791)aGg>aAg p.R597K UNC5C_ENST00000453304.1_Splice_Site_p.R578K O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 578 ZU5. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GCATATTTACCTCATAGTTTC 0.413000 14 16 0 0 1 0 0 TSSK3 81629 broad.mit.edu 37 1 32829401 32829401 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:32829401G>C ENST00000373534.3 + 2 856 c.351G>C c.(349-351)caG>caC p.Q117H FAM229A_ENST00000415596.1_Intron NM_052841.3 NP_443073.1 Q96PN8 TSSK3_HUMAN testis-specific serine kinase 3 117 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212) TCTTCCGTCAGATGGTTGAGG 0.607000 23 46 0 0 1 0 0 PWWP2A 114825 broad.mit.edu 37 5 159507713 159507713 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr5:159507713C>T ENST00000456329.3 - 3 1648 c.1614G>A c.(1612-1614)ctG>ctA p.L538L PWWP2A_ENST00000523662.1_Intron NM_052927.2 NP_443159.1 Q96N64 PWP2A_HUMAN PWWP domain containing 2A 0 kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGTGGTCTGTCAGACACTGTA 0.453000 9 3 0 0 1 0 0 CEP85 64793 broad.mit.edu 37 1 26584195 26584195 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:26584195G>A ENST00000252992.4 + 5 1142 c.1011G>A c.(1009-1011)ctG>ctA p.L337L CEP85_ENST00000451429.2_Silent_p.L286L NM_001281517.1|NM_022778.2 NP_001268446.1|NP_073615.2 Q6P2H3 CEP85_HUMAN centrosomal protein 85kDa 337 centrosome|nucleolus|spindle pole breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2) 25 AACACCTTCTGAAGGAAAAAG 0.502000 24 120 0 0 1 0 0 LIN52 91750 broad.mit.edu 37 14 74567871 74567871 + Silent SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr14:74567871C>A ENST00000555028.1 + 5 392 c.225C>A c.(223-225)ctC>ctA p.L75L LIN52_ENST00000554076.1_3'UTR NM_001024674.2 NP_001019845.1 Q52LA3 LIN52_HUMAN lin-52 homolog (C. elegans) 75 breast(1)|endometrium(2)|lung(2) 5 BRCA - Breast invasive adenocarcinoma(234;0.00471) TGGGGAGTCTCACCACGGCTA 0.463000 28 59 4.02929e-09 4.1658e-09 1 1 0 ID1 3397 broad.mit.edu 37 20 30193278 30193278 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr20:30193278G>A ENST00000376105.3 + 1 187 c.88G>A c.(88-90)Gag>Aag p.E30K ID1_ENST00000376112.3_Missense_Mutation_p.E30K NM_181353.2 NP_851998.1 P41134 ID1_HUMAN inhibitor of DNA binding 1, dominant negative helix-loop-helix protein 30 angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway cytoplasm protein binding endometrium(2)|ovary(1)|pancreas(1) 4 all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264) CGGTGCGGGCGAGGTGGTGCG 0.721000 10 9 0 0 1 0 0 CALCRL 10203 broad.mit.edu 37 2 188211069 188211069 + Missense_Mutation SNP A A G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:188211069A>G ENST00000409998.1 - 16 2009 c.1228T>C c.(1228-1230)Ttt>Ctt p.F410L CALCRL_ENST00000410068.1_Missense_Mutation_p.F410L|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.F410L Q16602 CALRL_HUMAN calcitonin receptor-like 410 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) GAGTTGGAAAAGCTGTTTCCA 0.383000 18 50 0 0 1 0 0 RCN2 5955 broad.mit.edu 37 15 77228016 77228016 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:77228016G>C ENST00000394885.3 + 3 623 c.400G>C c.(400-402)Gat>Cat p.D134H RCN2_ENST00000394883.3_Intron|RCN2_ENST00000320963.5_Missense_Mutation_p.D134H NM_002902.2 NP_002893.1 Q14257 RCN2_HUMAN reticulocalbin 2, EF-hand calcium binding domain 134 endoplasmic reticulum lumen calcium ion binding endometrium(2)|kidney(2)|large_intestine(2)|lung(1) 7 GATTGACTTTGATGAGAACAC 0.378000 25 53 0 0 1 0 0 PCMT1 5110 broad.mit.edu 37 6 150094297 150094297 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:150094297C>G ENST00000464889.1 + 3 642 c.358C>G c.(358-360)Cca>Gca p.P120A PCMT1_ENST00000367384.2_Missense_Mutation_p.P120A|PCMT1_ENST00000544496.1_Missense_Mutation_p.P27A|PCMT1_ENST00000367380.5_Missense_Mutation_p.P62A|PCMT1_ENST00000367378.1_Missense_Mutation_p.P120A protein-L-isoaspartate (D-aspartate) O-methyltransferase p.P62T(1) kidney(1)|large_intestine(2)|lung(4)|ovary(1) 8 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.221) OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207) AATCAGTGCTCCACACATGGT 0.303000 11 39 0 0 1 0 0 VCPIP1 80124 broad.mit.edu 37 8 67577747 67577747 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:67577747C>G ENST00000310421.4 - 1 1705 c.1447G>C c.(1447-1449)Gag>Cag p.E483Q NM_025054.4 NP_079330.2 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex interacting protein 1 483 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) GCCAACCACTCTGGAGGAACA 0.448000 48 102 0 0 1 0 0 R3HDM1 23518 broad.mit.edu 37 2 136362421 136362421 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:136362421G>A ENST00000264160.4 + 3 376 c.6G>A c.(4-6)agG>agA p.R2R R3HDM1_ENST00000409606.1_Silent_p.R2R|R3HDM1_ENST00000409478.1_Silent_p.R2R|R3HDM1_ENST00000410054.1_Intron|R3HDM1_ENST00000329971.3_Silent_p.R2R NM_001282798.1|NM_015361.2 NP_001269727.1|NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 2 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) TTCTAATGAGGATGTCTGATA 0.323000 17 41 0 0 1 0 0 GCM2 9247 broad.mit.edu 37 6 10874786 10874786 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:10874786C>G ENST00000379491.4 - 5 1110 c.963G>C c.(961-963)gaG>gaC p.E321D SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron NM_004752.3 NP_004743.1 O75603 GCM2_HUMAN glial cells missing homolog 2 (Drosophila) 321 cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 30 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) CAAAGCTTCTCTCATAGCTGC 0.453000 19 113 0 0 1 0 0 ANKS1A 23294 broad.mit.edu 37 6 34957043 34957043 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:34957043G>A ENST00000360359.3 + 9 1390 c.1252G>A c.(1252-1254)Gag>Aag p.E418K ANKS1A_ENST00000535627.1_Intron NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 418 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 GCCCGATGAAGAGGAAGAAGA 0.398000 35 90 0 0 1 0 0 PRKAR2A 5576 broad.mit.edu 37 3 48820492 48820492 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:48820492C>G ENST00000265563.8 - 5 718 c.469G>C c.(469-471)Gaa>Caa p.E157Q PRKAR2A_ENST00000296446.8_Missense_Mutation_p.E157Q|PRKAR2A_ENST00000454963.1_Missense_Mutation_p.E157Q NM_004157.2 NP_004148.1 P13861 KAP2_HUMAN protein kinase, cAMP-dependent, regulatory, type II, alpha 157 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|membrane fraction cAMP binding|cAMP-dependent protein kinase regulator activity SLC26A6/PRKAR2A(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261) ACTATCCTTTCAAACATGGCA 0.393000 9 61 0 0 1 0 0 RNASE8 122665 broad.mit.edu 37 14 21526415 21526415 + Missense_Mutation SNP G G C rs140610133 by1000genomes TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr14:21526415G>C ENST00000308227.2 + 1 435 c.364G>C c.(364-366)Gag>Cag p.E122Q NDRG2_ENST00000403829.3_Intron NM_138331.1 NP_612204.1 Q8TDE3 RNAS8_HUMAN ribonuclease, RNase A family, 8 122 extracellular region nucleic acid binding|pancreatic ribonuclease activity endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08) GBM - Glioblastoma multiforme(265;0.0188) CAGGTACAAAGAGAAGCACCT 0.527000 30 77 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 5 13 0 0 1 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41751506 41751506 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr22:41751506G>C ENST00000352645.4 + 18 2325 c.2068G>C c.(2068-2070)Gac>Cac p.D690H ZC3H7B_ENST00000351589.4_Missense_Mutation_p.D690H NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 706 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CAGCACCTTTGACCTGCAGAT 0.622000 8 35 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153250865 153250865 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr4:153250865C>G ENST00000281708.4 - 8 2424 c.1195G>C c.(1195-1197)Gat>Cat p.D399H FBXW7_ENST00000393956.3_Missense_Mutation_p.D223H|FBXW7_ENST00000603841.1_Missense_Mutation_p.D399H|FBXW7_ENST00000263981.5_Missense_Mutation_p.D319H|FBXW7_ENST00000603548.1_Missense_Mutation_p.D399H|FBXW7_ENST00000296555.5_Missense_Mutation_p.D281H NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 399 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) GTGTTGTCATCAGAACCACTA 0.358000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 27 37 0 0 1 0 0 KAL1 3730 broad.mit.edu 37 X 8553350 8553350 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:8553350G>A ENST00000262648.3 - 6 963 c.814C>T c.(814-816)Cga>Tga p.R272* NM_000216.2 NP_000207.2 P23352 KALM_HUMAN Kallmann syndrome 1 sequence 272 Fibronectin type-III 1. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1) 32 GTGAAGCCTCGAGTTCCATGC 0.517000 18 33 0 0 1 0 0 KIRREL 55243 broad.mit.edu 37 1 158061331 158061331 + Nonsense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:158061331C>T ENST00000368172.1 + 7 910 c.898C>T c.(898-900)Cag>Tag p.Q300* KIRREL_ENST00000416935.2_Nonsense_Mutation_p.Q386*|KIRREL_ENST00000359209.6_Nonsense_Mutation_p.Q486*|KIRREL_ENST00000392272.2_Nonsense_Mutation_p.Q383*|KIRREL_ENST00000368173.3_Nonsense_Mutation_p.Q502*|KIRREL_ENST00000360089.4_Nonsense_Mutation_p.Q322* Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 486 integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) AGCCATCATCCAGCTGGAAGA 0.587000 21 50 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95523740 95523740 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:95523740C>G ENST00000297591.5 - 13 3138 c.3063G>C c.(3061-3063)ctG>ctC p.L1021L KIAA1429_ENST00000421249.2_Silent_p.L1021L|KIAA1429_ENST00000523405.1_5'UTR|KIAA1429_ENST00000437199.1_Silent_p.L1021L NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1021 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) ATCCACCTCTCAGGAGTTCCG 0.463000 23 40 0 0 1 0 0 TAS2R39 259285 broad.mit.edu 37 7 142880982 142880982 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:142880982G>C ENST00000446620.1 + 1 471 c.471G>C c.(469-471)ttG>ttC p.L157F NM_176881.2 NP_795362.2 P59534 T2R39_HUMAN taste receptor, type 2, member 39 157 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 Melanoma(164;0.059) TTACTGGATTGATACCCTGGC 0.453000 27 61 0 0 1 0 0 MTA2 9219 broad.mit.edu 37 11 62363235 62363235 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:62363235G>A ENST00000278823.2 - 13 1632 c.1243C>T c.(1243-1245)Cgg>Tgg p.R415W MTA2_ENST00000524902.1_Missense_Mutation_p.R242W|MTA2_ENST00000527204.1_Missense_Mutation_p.R242W NM_004739.3 NP_004730.2 O94776 MTA2_HUMAN metastasis associated 1 family, member 2 415 chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 26 GTGGTGCCCCGAGTGGCCCCC 0.527000 11 82 0 0 1 0 0 KIAA1324 57535 broad.mit.edu 37 1 109735274 109735274 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:109735274C>G ENST00000369939.3 + 14 1908 c.1725C>G c.(1723-1725)atC>atG p.I575M KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.I488M NM_020775.4 NP_065826 Q6UXG2 K1324_HUMAN KIAA1324 575 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) TCTACTCCATCAATGTCACCA 0.532000 58 118 0 0 1 0 0 BROX 148362 broad.mit.edu 37 1 222892290 222892290 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:222892290G>A ENST00000340934.5 + 3 531 c.125G>A c.(124-126)cGa>cAa p.R42Q BROX_ENST00000537020.1_Missense_Mutation_p.R42Q|BROX_ENST00000539697.1_Missense_Mutation_p.R42Q NM_144695.2 NP_653296.2 Q5VW32 BROX_HUMAN BRO1 domain and CAAX motif containing 42 membrane breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1) 14 TCCAGGGCACGACTCCTTGAA 0.363000 62 107 0 0 1 0 0 CDKN1A 1026 broad.mit.edu 37 6 36651968 36651968 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:36651968G>A ENST00000405375.1 + 2 325 c.90G>A c.(88-90)ctG>ctA p.L30L CDKN1A_ENST00000448526.2_Silent_p.L64L|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Silent_p.L30L|CDKN1A_ENST00000244741.5_Silent_p.L30L NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 30 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 GCGAGCAGCTGAGCCGCGACT 0.647000 11 24 0 0 1 0 0 NR1D2 9975 broad.mit.edu 37 3 24018854 24018854 + Nonsense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:24018854C>T ENST00000312521.4 + 8 2003 c.1684C>T c.(1684-1686)Cga>Tga p.R562* NR1D2_ENST00000492552.1_3'UTR NM_001145425.1|NM_005126.4 NP_001138897.1|NP_005117 Q14995 NR1D2_HUMAN nuclear receptor subfamily 1, group D, member 2 562 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 22 GCCAGATCTTCGATCTTTAAA 0.378000 29 77 0 0 1 0 0 DDX43 55510 broad.mit.edu 37 6 74124403 74124403 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:74124403G>C ENST00000370336.4 + 14 1897 c.1739G>C c.(1738-1740)aGa>aCa p.R580T MB21D1_ENST00000370318.1_Intron NM_018665.2 NP_061135.2 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 580 Helicase C-terminal. intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 CGCACGGGAAGAGCAGGGTAA 0.418000 20 44 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51315045 51315045 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:51315045G>A ENST00000266037.9 + 26 2706 c.2683G>A c.(2683-2685)Gat>Aat p.D895N NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 895 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CCAGGAGGCAGATGTCATGGA 0.557000 12 11 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7792599 7792599 + Silent SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:7792599G>C ENST00000303635.7 + 12 3213 c.3006G>C c.(3004-3006)gcG>gcC p.A1002A CAMTA1_ENST00000439411.2_Silent_p.A1002A NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1002 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) ACAAACAGGCGAGCGGAGGCG 0.627000 T WWTR1 epitheliod hemangioendothelioma 16 26 0 0 1 0 0 PMS2P3 5387 broad.mit.edu 37 7 75145511 75145511 + RNA SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:75145511G>A ENST00000418756.1 - 0 653 NR_028059.1 lung(1) 1 CCTCCTGGGTGAAATCCACAG 0.473000 11 63 0 0 1 0 0 CYYR1 116159 broad.mit.edu 37 21 27945196 27945196 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr21:27945196C>T ENST00000299340.4 - 1 407 c.64G>A c.(64-66)Gtc>Atc p.V22I CYYR1_ENST00000435845.2_Missense_Mutation_p.V130I|CYYR1_ENST00000400043.3_Missense_Mutation_p.V22I NM_052954.2 NP_443186.1 Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 22 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 CCTGCGTAGACAAAGAGCAGG 0.662000 13 40 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111382137 111382137 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:111382137C>G ENST00000428084.1 - 45 5001 c.4729G>C c.(4729-4731)Gat>Cat p.D1577H DOCK4_ENST00000494651.2_Missense_Mutation_p.D451H|DOCK4_ENST00000437633.1_Missense_Mutation_p.D1568H Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1568 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) GGTCTCATATCTTGAGGTACA 0.433000 24 50 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162306914 162306914 + Missense_Mutation SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr4:162306914C>A ENST00000306100.5 - 16 2965 c.2529G>T c.(2527-2529)tgG>tgT p.W843C FSTL5_ENST00000427802.2_Missense_Mutation_p.W833C|FSTL5_ENST00000379164.4_Missense_Mutation_p.W842C|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Missense_Mutation_p.W842C NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 843 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CATCTCCAACCCAAATGACTG 0.348000 18 50 9.16793e-09 9.44944e-09 1 1 0 HIVEP3 59269 broad.mit.edu 37 1 41976601 41976601 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:41976601C>T ENST00000372584.1 - 8 7753 c.6739G>A c.(6739-6741)Gag>Aag p.E2247K HIVEP3_ENST00000429157.2_Missense_Mutation_p.E2247K|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E2248K|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E2248K NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 2248 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GACGAGCTCTCAGTGGGACTC 0.682000 26 34 0 0 1 0 0 PAX2 5076 broad.mit.edu 37 10 102568920 102568920 + Silent SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:102568920G>C ENST00000370296.2 + 8 1465 c.915G>C c.(913-915)tcG>tcC p.S305S PAX2_ENST00000428433.1_Silent_p.S305S|PAX2_ENST00000355243.3_Silent_p.S282S|PAX2_ENST00000361791.3_Silent_p.S282S|PAX2_ENST00000556085.1_Silent_p.S281S Q02962 PAX2_HUMAN paired box 2 305 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 18 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) AAGTCAAGTCGAGTCTATCTG 0.577000 26 40 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189871699 189871699 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:189871699G>A ENST00000304636.3 + 44 3408 c.3238G>A c.(3238-3240)Ggt>Agt p.G1080S COL3A1_ENST00000317840.5_Intron NM_000090.3 NP_000081 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1080 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CGGTCCTGCTGGTTCCCGAGG 0.388000 6 35 0 0 1 0 0 UBQLN4 56893 broad.mit.edu 37 1 156020243 156020243 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:156020243C>G ENST00000368309.3 - 4 672 c.580G>C c.(580-582)Gag>Cag p.E194Q UBQLN4_ENST00000472638.1_Intron NM_020131.3 NP_064516.2 Q9NRR5 UBQL4_HUMAN ubiquilin 4 194 cytosol|endoplasmic reticulum membrane|nucleus identical protein binding NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2) 16 Hepatocellular(266;0.133)|all_neural(408;0.195) GACAGCATCTCAGGATTGGAC 0.572000 51 103 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152426865 152426865 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:152426865G>A ENST00000427231.2 - 109 17362 c.17160C>T c.(17158-17160)taC>taT p.Y5720Y NEB_ENST00000172853.10_Silent_p.Y4019Y|NEB_ENST00000603639.1_Silent_p.Y5720Y|NEB_ENST00000397345.3_Silent_p.Y5720Y|NEB_ENST00000604864.1_Silent_p.Y5720Y|NEB_ENST00000409198.1_Silent_p.Y4019Y NM_001164507.1|NM_001271208.1 NP_001157979|NP_001258137.1 P20929 NEBU_HUMAN nebulin 5736 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GGGTGCCCACGTAGTGTCCCT 0.512000 7 25 0 0 1 0 0 CALR 811 broad.mit.edu 37 19 13051415 13051415 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:13051415G>A ENST00000316448.5 + 6 836 c.763G>A c.(763-765)Gaa>Aaa p.E255K NM_004343.3 NP_004334.1 P27797 CALR_HUMAN calreticulin 255 4 X approximate repeats.|P-domain. cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding kidney(1)|large_intestine(3)|lung(5)|ovary(1) 10 Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) GGACTGGGATGAAGAGATGGA 0.582000 36 13 0 0 1 0 0 AKT2 208 broad.mit.edu 37 19 40741238 40741238 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:40741238C>T ENST00000392038.2 - 12 1493 c.1195G>A c.(1195-1197)Gat>Aat p.D399N AKT2_ENST00000424901.1_Missense_Mutation_p.D399N|AKT2_ENST00000311278.6_Missense_Mutation_p.D356N|AKT2_ENST00000579047.1_Missense_Mutation_p.D337N NM_001243027.1|NM_001243028.1|NM_001626.4 NP_001229956.1|NP_001229957.1|NP_001617.1 P31751 AKT2_HUMAN v-akt murine thymoma viral oncogene homolog 2 399 Protein kinase. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1) 27 Lung(22;0.000499) TCCTTGGCATCGCTGGGCCCC 0.657000 A """ovarian, pancreatic """ 16 78 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123333068 123333068 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:123333068C>T ENST00000360772.3 - 34 5854 c.5476G>A c.(5476-5478)Gat>Aat p.D1826N MYLK_ENST00000346322.5_Missense_Mutation_p.D1808N|MYLK_ENST00000354792.5_Missense_Mutation_p.D677N|MYLK_ENST00000583087.1_Missense_Mutation_p.D117N|MYLK_ENST00000418370.2_Missense_Mutation_p.D117N|MYLK_ENST00000360304.3_Missense_Mutation_p.D1877N|MYLK_ENST00000359169.1_Missense_Mutation_p.D1826N|MYLK_ENST00000475616.1_Missense_Mutation_p.D1877N|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000578202.1_Missense_Mutation_p.D116N|MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000470449.1_RNA Q15746 MYLK_HUMAN myosin light chain kinase 1877 Ig-like C2-type 9. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TACTTGGCATCGTCATCCCCG 0.512000 33 150 0 0 1 0 0 AGR3 155465 broad.mit.edu 37 7 16899228 16899228 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:16899228C>T ENST00000310398.2 - 8 549 c.479G>A c.(478-480)aGa>aAa p.R160K NM_176813.3 NP_789783.1 Q8TD06 AGR3_HUMAN anterior gradient 3 160 extracellular region central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1) 13 Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202) UCEC - Uterine corpus endometrioid carcinoma (126;0.184) CTGAATAAGTCTTAATGCTTT 0.289000 4 20 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7173213 7173213 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:7173213C>T ENST00000406697.1 + 10 1438 c.810C>T c.(808-810)atC>atT p.I270I C1S_ENST00000328916.3_Silent_p.I270I|C1S_ENST00000360817.5_Silent_p.I270I|C1S_ENST00000402681.3_Silent_p.I103I P09871 C1S_HUMAN complement component 1, s subcomponent 270 CUB 2. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) CTCTTGATATCATCTTCCAAA 0.428000 41 57 0 0 1 0 0 YAE1D1 57002 broad.mit.edu 37 7 39612071 39612071 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:39612071G>A ENST00000223273.2 + 3 490 c.447G>A c.(445-447)gaG>gaA p.E149E YAE1D1_ENST00000432096.2_Intron|YAE1D1_ENST00000448268.1_3'UTR NM_020192.3 NP_064577.1 Q9NRH1 CG036_HUMAN Yae1 domain containing 1 149 TTCCAGCTGAGAAAAAGATTG 0.378000 37 61 0 0 1 0 0 FBXL18 80028 broad.mit.edu 37 7 5540319 5540319 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:5540319G>A ENST00000382368.3 - 3 1704 c.1581C>T c.(1579-1581)atC>atT p.I527I FBXL18_ENST00000453700.3_Silent_p.I527I NM_024963.4 NP_079239.3 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 527 FBXL18/RNF216(2) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3) 21 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) CCAGCTGGCCGATGGCGGCCA 0.692000 4 4 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167134678 167134678 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:167134678C>G ENST00000375387.4 - 15 2832 c.2492G>C c.(2491-2493)gGa>gCa p.G831A AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.G819A|SCN9A_ENST00000303354.6_Missense_Mutation_p.G831A|SCN9A_ENST00000409435.1_Missense_Mutation_p.G830A Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 830 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) AACTGACAATCCTTCCACATC 0.353000 21 46 0 0 1 0 0 DHX29 54505 broad.mit.edu 37 5 54593189 54593189 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr5:54593189C>G ENST00000251636.5 - 3 447 c.299G>C c.(298-300)gGa>gCa p.G100A NM_019030.2 NP_061903.2 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 100 ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) ATTGATCACTCCAATAATTCT 0.294000 11 14 0 0 1 0 0 GP6 51206 broad.mit.edu 37 19 55527085 55527085 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:55527085G>C ENST00000310373.3 - 7 768 c.741C>G c.(739-741)atC>atG p.I247M GP6_ENST00000333884.2_Missense_Mutation_p.I229M|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000417454.1_Missense_Mutation_p.I247M NM_001083899.1 NP_001077368 Q9HCN6 GPVI_HUMAN glycoprotein VI (platelet) 247 enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation integral to plasma membrane collagen binding|transmembrane receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 BRCA - Breast invasive adenocarcinoma(297;0.156) GBM - Glioblastoma multiforme(193;0.0515) GACTGGCGGTGATACTCCTAG 0.517000 3 12 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37649014 37649014 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:37649014C>T ENST00000447079.4 + 4 2152 c.2119C>T c.(2119-2121)Cct>Tct p.P707S CDK12_ENST00000430627.2_Missense_Mutation_p.P707S NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 707 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 AATTTGTTGTCCTCGTTATGG 0.438000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 8 37 0 0 1 0 0 VAT1 10493 broad.mit.edu 37 17 41168485 41168485 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:41168485C>T ENST00000355653.3 - 5 1032 c.937G>A c.(937-939)Gct>Act p.A313T VAT1_ENST00000420567.3_Missense_Mutation_p.A179T|VAT1_ENST00000587173.1_Missense_Mutation_p.A245T NM_006373.3 NP_006364.2 Q99536 VAT1_HUMAN vesicle amine transport 1 313 cytoplasm|integral to membrane oxidoreductase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 9 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.156) AGCTGCAGAGCTGTCACGCTG 0.622000 13 23 0 0 1 0 0 NUP43 348995 broad.mit.edu 37 6 150057633 150057633 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:150057633G>C ENST00000340413.2 - 6 840 c.764C>G c.(763-765)tCt>tGt p.S255C NUP43_ENST00000460354.2_Missense_Mutation_p.S255C|NUP43_ENST00000367403.3_3'UTR|NUP43_ENST00000367404.4_Intron NM_198887.1 NP_942590.1 Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 255 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101) CTTCAGCAGAGATACAGGCAT 0.388000 12 21 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35454833 35454833 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:35454833G>A ENST00000353139.5 - 53 7133 c.6652C>T c.(6652-6654)Cag>Tag p.Q2218* ACACA_ENST00000335166.5_Nonsense_Mutation_p.Q2103*|ACACA_ENST00000394406.2_Nonsense_Mutation_p.Q2181*|ACACA_ENST00000360679.3_Nonsense_Mutation_p.Q2123*|ACACA_ENST00000361253.5_Nonsense_Mutation_p.Q307* NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 2181 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) ACGGCTACCTGATGGTAAATG 0.502000 49 78 0 0 1 0 0 FAM161B 145483 broad.mit.edu 37 14 74416800 74416800 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr14:74416800G>A ENST00000286544.3 - 1 317 c.119C>T c.(118-120)cCg>cTg p.P40L COQ6_ENST00000394026.4_Missense_Mutation_p.R2Q|FAM161B_ENST00000534936.1_5'UTR|COQ6_ENST00000238709.4_5'UTR NM_152445.2 NP_689658.2 family with sequence similarity 161, member B breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2) 21 AGAGCTATGCGGGGCCAGGGT 0.642000 15 14 0 0 1 0 0 SLC2A11 66035 broad.mit.edu 37 22 24226015 24226015 + Silent SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr22:24226015G>C ENST00000345044.6 + 9 1309 c.1041G>C c.(1039-1041)ctG>ctC p.L347L SLC2A11_ENST00000398356.2_Silent_p.L354L|SLC2A11_ENST00000316185.8_Silent_p.L350L|AP000350.10_ENST00000433835.3_Intron Q9BYW1 GTR11_HUMAN solute carrier family 2 (facilitated glucose transporter), member 11 347 integral to membrane|plasma membrane sugar transmembrane transporter activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 12 GGTACAGCCTGATGACCTGCT 0.637000 9 47 0 0 1 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117417611 117417611 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:117417611C>G ENST00000160373.3 - 8 2823 c.2732G>C c.(2731-2733)aGa>aCa p.R911T NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 911 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) CCAGCCTTCTCTGTTGGCGTG 0.502000 19 48 0 0 1 0 0 CDYL2 124359 broad.mit.edu 37 16 80718550 80718550 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:80718550C>T ENST00000570137.2 - 2 656 c.501G>A c.(499-501)gaG>gaA p.E167E CDYL2_ENST00000566173.1_Silent_p.E167E|CDYL2_ENST00000563890.1_Silent_p.E167E|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000562812.1_Silent_p.E167E NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 CAAAGTGCCTCTCATCCTTCT 0.502000 11 129 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88965090 88965090 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:88965090G>A ENST00000333190.4 + 4 3403 c.2794G>A c.(2794-2796)Gta>Ata p.V932I NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 932 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TTTAGAAAGAGTACAAGCCAA 0.413000 HNSCC(36;0.09) 33 93 0 0 1 0 0 LRP8 7804 broad.mit.edu 37 1 53724124 53724124 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:53724124C>G ENST00000306052.6 - 14 2177 c.2076G>C c.(2074-2076)ctG>ctC p.L692L LRP8_ENST00000347547.2_Silent_p.L522L|LRP8_ENST00000354412.3_Silent_p.L563L|LRP8_ENST00000465675.1_Silent_p.L245L|LRP8_ENST00000371454.2_Silent_p.L692L|LRP8_ENST00000460214.1_5'UTR NM_004631.4 NP_004622.2 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 692 cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 GCTGGACACTCAGCTCACAGG 0.562000 17 37 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128522769 128522769 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:128522769G>A ENST00000322313.4 - 5 611 c.453C>T c.(451-453)ttC>ttT p.F151F WDR33_ENST00000409658.3_Silent_p.F151F|WDR33_ENST00000393006.1_Silent_p.F151F NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 151 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) TTTCAAAATTGAAAGTGAGTC 0.398000 17 38 0 0 1 0 0 CALR 811 broad.mit.edu 37 19 13051418 13051418 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:13051418G>A ENST00000316448.5 + 6 839 c.766G>A c.(766-768)Gag>Aag p.E256K NM_004343.3 NP_004334.1 P27797 CALR_HUMAN calreticulin 256 P-domain. cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding kidney(1)|large_intestine(3)|lung(5)|ovary(1) 10 Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGGGATGAAGAGATGGACGG 0.582000 36 13 0 0 1 0 0 DHX37 57647 broad.mit.edu 37 12 125437065 125437065 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:125437065G>A ENST00000308736.2 - 21 2845 c.2747C>T c.(2746-2748)cCg>cTg p.P916L DHX37_ENST00000544745.1_Missense_Mutation_p.P703L NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 916 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) CTCGGTGGGCGGCTGCATCTT 0.657000 18 46 0 0 1 0 0 CXCR4 7852 broad.mit.edu 37 2 136872570 136872570 + Missense_Mutation SNP T T C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:136872570T>C ENST00000409817.1 - 1 1243 c.940A>G c.(940-942)Aaa>Gaa p.K314E CXCR4_ENST00000241393.3_Missense_Mutation_p.K310E|CXCR4_ENST00000466288.1_5'UTR NM_001008540.1 NP_001008540.1 P61073 CXCR4_HUMAN chemokine (C-X-C motif) receptor 4 310 activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.155) Framycetin(DB00452) GCAGAGGTTTTAAATTTGGCT 0.507000 16 85 0 0 1 0 0 GPRASP2 114928 broad.mit.edu 37 X 101970855 101970855 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:101970855G>A ENST00000543253.1 + 5 1977 c.1058G>A c.(1057-1059)aGa>aAa p.R353K GPRASP2_ENST00000332262.5_Missense_Mutation_p.R353K|GPRASP2_ENST00000535209.1_Missense_Mutation_p.R353K NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 TTCAGGCACAGAGACAAAGAA 0.428000 13 55 0 0 1 0 0 MED13 9969 broad.mit.edu 37 17 60033200 60033200 + Splice_Site SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:60033200C>T ENST00000397786.2 - 25 5700 c.e25-1 NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CAGCTCCAATCTGTGGGTATC 0.328000 13 33 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34148133 34148133 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:34148133G>A ENST00000346193.3 - 1 2314 c.2263C>T c.(2263-2265)Caa>Taa p.Q755* NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 755 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 AACAGCCTTTGAATGATGCCA 0.408000 28 90 0 0 1 0 0 FAM217A 222826 broad.mit.edu 37 6 4069972 4069972 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:4069972C>G ENST00000274673.3 - 7 888 c.485G>C c.(484-486)aGa>aCa p.R162T FAM217A_ENST00000380188.2_5'UTR NM_173563.2 NP_775834.2 Q8IXS0 CF146_HUMAN family with sequence similarity 217, member A 162 AATCTCATTTCTGTTCTTAAA 0.398000 20 39 0 0 1 0 0 TRIL 9865 broad.mit.edu 37 7 28996295 28996295 + RNA SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:28996295G>C ENST00000322982.3 - 0 1639 Q7L0X0 TRIL_HUMAN TLR4 interactor with leucine-rich repeats inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway lipopolysaccharide receptor complex lipopolysaccharide binding CCTGCTGCTGGAGCTGCGGCT 0.731000 14 31 0 0 1 0 0 WWP2 11060 broad.mit.edu 37 16 69833131 69833131 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:69833131G>C ENST00000359154.2 + 4 374 c.273G>C c.(271-273)ttG>ttC p.L91F WWP2_ENST00000448661.1_Missense_Mutation_p.L91F|WWP2_ENST00000356003.2_Missense_Mutation_p.L91F|WWP2_ENST00000569174.1_Missense_Mutation_p.L91F|WWP2_ENST00000544162.1_3'UTR NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 91 C2. entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GCCATACCTTGAGAAATGAAC 0.453000 OREG0023909 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 113 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4512190 4512190 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:4512190C>T ENST00000301286.3 - 3 1739 c.1740G>A c.(1738-1740)ctG>ctA p.L580L NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 580 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 TGGTGCCGGTCAGCACGGTCT 0.582000 164 118 0 0 1 0 0 CNGA1 1259 broad.mit.edu 37 4 47939152 47939152 + Silent SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr4:47939152G>C ENST00000402813.3 - 10 1708 c.1566C>G c.(1564-1566)gtC>gtG p.V522V CNGA1_ENST00000544810.1_Silent_p.V453V|CNGA1_ENST00000358519.4_Silent_p.V453V|CNGA1_ENST00000514170.1_Silent_p.V453V|CNGA1_ENST00000420489.2_Silent_p.V453V P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 453 response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 GATACTTTAAGACTTCTTTCT 0.348000 19 79 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 430940 430940 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:430940G>C ENST00000256509.2 + 20 2895 c.2253G>C c.(2251-2253)ttG>ttC p.L751F CHL1_ENST00000397491.2_Missense_Mutation_p.L735F NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 735 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) tttagcctttgaaatccatgg 0.468000 3 13 0 0 1 0 0 SERPINC1 462 broad.mit.edu 37 1 173878966 173878966 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:173878966G>A ENST00000367698.3 - 5 995 c.877C>T c.(877-879)Cgg>Tgg p.R293W NM_000488.3 NP_000479.1 P01008 ANT3_HUMAN serpin peptidase inhibitor, clade C (antithrombin), member 1 293 Missing (in AT3D; type-I). blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1) 25 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) GCCACGCGCCGATAACGGAAC 0.522000 42 62 0 0 1 0 0 CALB2 794 broad.mit.edu 37 16 71411635 71411635 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:71411635C>T ENST00000302628.4 + 4 404 c.327C>T c.(325-327)agC>agT p.S109S CALB2_ENST00000349553.5_Silent_p.S109S NM_001740.4 NP_001731.2 P22676 CALB2_HUMAN calbindin 2 109 EF-hand 3. calcium ion binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(137;0.125) TGGGCTCCAGCGCCGAGTTTA 0.577000 11 68 0 0 1 0 0 OR2T6 254879 broad.mit.edu 37 1 248551800 248551800 + Silent SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:248551800G>C ENST00000355728.2 + 1 891 c.891G>C c.(889-891)gtG>gtC p.V297V NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACAGGGATGTGATGGGTGCCT 0.458000 27 31 0 0 1 0 0 CDCA2 157313 broad.mit.edu 37 8 25361009 25361009 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:25361009G>C ENST00000330560.3 + 14 2269 c.1792G>C c.(1792-1794)Gaa>Caa p.E598Q CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.E583Q NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 598 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) CGAGCTGCCTGAAGTCCCTGA 0.443000 10 75 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79385976 79385976 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:79385976G>A ENST00000370742.3 - 10 1416 c.1353C>T c.(1351-1353)ttC>ttT p.F451F NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 451 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TTTCACTGAAGAACCAGAAGG 0.323000 27 65 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31295173 31295173 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:31295173C>G ENST00000542188.1 - 27 4094 c.3781G>C c.(3781-3783)Gaa>Caa p.E1261Q TRPM1_ENST00000397795.2_Missense_Mutation_p.E1222Q|TRPM1_ENST00000256552.6_Missense_Mutation_p.E1244Q|RP11-348B17.1_ENST00000561299.1_RNA NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 1222 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity p.E1222K(1) NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TTAGATAATTCTTCTAGCTGA 0.433000 33 42 0 0 1 0 0 FSTL1 11167 broad.mit.edu 37 3 120121766 120121766 + Splice_Site SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:120121766C>G ENST00000295633.3 - 9 1051 c.e9-1 FSTL1_ENST00000424703.2_Splice_Site NM_007085.4 NP_009016.1 Q12841 FSTL1_HUMAN follistatin-like 1 BMP signaling pathway extracellular space calcium ion binding|heparin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1) 20 GBM - Glioblastoma multiforme(114;0.189) AGGGCACACTCTGTTGGGCCA 0.527000 21 42 0 0 1 0 0 TMTC3 160418 broad.mit.edu 37 12 88560325 88560325 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:88560325G>C ENST00000266712.6 + 7 1236 c.1016G>C c.(1015-1017)aGa>aCa p.R339T NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 339 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 TTCAGTATCAGATACTCTGGT 0.338000 5 60 0 0 1 0 0 KIAA1324 57535 broad.mit.edu 37 1 109727676 109727676 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:109727676C>G ENST00000369939.3 + 8 1145 c.962C>G c.(961-963)tCt>tGt p.S321C KIAA1324_ENST00000529753.1_Intron NM_020775.4 NP_065826 Q6UXG2 K1324_HUMAN KIAA1324 321 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) GAGAAAGGATCTTCTTCCTGT 0.488000 39 69 0 0 1 0 0 POLR2B 5431 broad.mit.edu 37 4 57852590 57852590 + Nonsense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr4:57852590C>T ENST00000431623.2 + 2 212 c.16C>T c.(16-18)Cag>Tag p.Q6* POLR2B_ENST00000441246.2_Silent_p.I23I|POLR2B_ENST00000314595.5_Silent_p.I30I|POLR2B_ENST00000381227.1_Silent_p.I30I P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 0 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) GGATTGTAATCAGGTAACTTT 0.343000 26 57 0 0 1 0 0 CBFA2T2 9139 broad.mit.edu 37 20 32216236 32216236 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr20:32216236G>C ENST00000492345.1 + 9 1652 c.967G>C c.(967-969)Gac>Cac p.D323H CBFA2T2_ENST00000342704.6_Missense_Mutation_p.D343H|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.D352H|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.D323H|CBFA2T2_ENST00000346541.3_Missense_Mutation_p.D352H|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.D362H O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 2 352 nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2) 20 GAAACATCTTGACCATGTAAG 0.393000 22 59 0 0 1 0 0 LGR5 8549 broad.mit.edu 37 12 71960644 71960644 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:71960644C>T ENST00000266674.5 + 11 1333 c.1022C>T c.(1021-1023)tCa>tTa p.S341L LGR5_ENST00000540815.2_Missense_Mutation_p.S317L|LGR5_ENST00000536515.1_Missense_Mutation_p.S269L O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 341 integral to plasma membrane protein-hormone receptor activity p.S341*(1) NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 GCACAGATCTCATCTCTTCCT 0.398000 20 31 0 0 1 0 0 CAMK2D 817 broad.mit.edu 37 4 114473230 114473230 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr4:114473230C>T ENST00000454265.2 - 5 1156 c.298G>A c.(298-300)Gaa>Aaa p.E100K CAMK2D_ENST00000296402.5_Missense_Mutation_p.E100K|CAMK2D_ENST00000342666.5_Missense_Mutation_p.E100K|CAMK2D_ENST00000418639.2_Missense_Mutation_p.E100K|CAMK2D_ENST00000515496.1_Missense_Mutation_p.E100K|CAMK2D_ENST00000505990.1_Missense_Mutation_p.E100K|CAMK2D_ENST00000508738.1_Missense_Mutation_p.E100K|CAMK2D_ENST00000429180.1_Missense_Mutation_p.E100K|CAMK2D_ENST00000394524.3_Missense_Mutation_p.E100K|CAMK2D_ENST00000514328.1_Missense_Mutation_p.E100K|CAMK2D_ENST00000511664.1_Missense_Mutation_p.E100K|CAMK2D_ENST00000379773.2_Missense_Mutation_p.E100K|CAMK2D_ENST00000394526.2_Missense_Mutation_p.E100K|CAMK2D_ENST00000394522.3_Missense_Mutation_p.E100K Q13557 KCC2D_HUMAN calcium/calmodulin-dependent protein kinase II delta 100 Protein kinase. interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 13 Ovarian(17;0.00369)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000271) ACTATGTCTTCAAACAGTTCA 0.348000 20 33 0 0 1 0 0 PLA2G15 23659 broad.mit.edu 37 16 68293372 68293372 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:68293372G>A ENST00000219345.5 + 6 1134 c.1051G>A c.(1051-1053)Gac>Aac p.D351N PLA2G15_ENST00000566188.1_3'UTR|PLA2G15_ENST00000413021.2_Missense_Mutation_p.D257N|PLA2G15_ENST00000444212.2_Missense_Mutation_p.D151N|RP11-96D1.7_ENST00000563175.1_RNA NM_012320.3 NP_036452.1 Q8NCC3 PAG15_HUMAN phospholipase A2, group XV 351 fatty acid catabolic process extracellular region|lysosome lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 12 CCCTGACCGTGACCCTAAAAT 0.587000 62 50 0 0 1 0 0 GARS 2617 broad.mit.edu 37 7 30643165 30643165 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:30643165G>A ENST00000389266.3 + 6 953 c.712G>A c.(712-714)Gaa>Aaa p.E238K NM_002047.2 NP_002038.2 P41250 SYG_HUMAN glycyl-tRNA synthetase 238 cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation cytosol|mitochondrial matrix|soluble fraction ATP binding|glycine-tRNA ligase activity|protein dimerization activity breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 24 Glycine(DB00145) AAAGAAATCAGAAATGGAAAG 0.378000 17 35 0 0 1 0 0 SDHD 6392 broad.mit.edu 37 11 111965609 111965609 + Nonsense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:111965609C>T ENST00000528048.1 + 3 285 c.250C>T c.(250-252)Cag>Tag p.Q84* SDHD_ENST00000532699.1_Intron|SDHD_ENST00000528182.1_Nonsense_Mutation_p.Q130*|SDHD_ENST00000525291.1_Missense_Mutation_p.S93L|SDHD_ENST00000526592.1_3'UTR|SDHD_ENST00000375549.3_Missense_Mutation_p.S132L|SDHD_ENST00000528021.1_Intron O14521 DHSD_HUMAN succinate dehydrogenase complex, subunit D, integral membrane protein 0 respiratory electron transport chain|transport|tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain complex II electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1) 9 all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515) Succinic acid(DB00139) TTGGCACTTTCAGCTTTAACC 0.453000 """Mis, N, F, S""" """paraganglioma, pheochromocytoma""" Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome 25 33 0 0 1 0 0 ROGDI 79641 broad.mit.edu 37 16 4847736 4847736 + Silent SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:4847736G>C ENST00000322048.7 - 10 1179 c.801C>G c.(799-801)ctC>ctG p.L267L NM_024589.2 NP_078865.1 Q9GZN7 ROGDI_HUMAN rogdi homolog (Drosophila) 267 intracellular endometrium(2)|lung(1)|ovary(1)|skin(1) 5 GCTGCTGGCAGAGCTGCAGGG 0.637000 24 69 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77691982 77691982 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr4:77691982C>G ENST00000296043.6 + 10 6506 c.5553C>G c.(5551-5553)ctC>ctG p.L1851L RP11-359D14.3_ENST00000449007.1_RNA NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1851 ASD2. apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) TGCTCTCCCTCTCGGGGCGTC 0.517000 13 70 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49414918 49414918 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:49414918C>T ENST00000374201.3 - 14 1972 c.1670G>A c.(1669-1671)aGg>aAg p.R557K FRMPD2_ENST00000407470.4_Missense_Mutation_p.R525K|FRMPD2_ENST00000305531.3_Missense_Mutation_p.R532K NM_001018071.3|NM_001042512.2 NP_001018081|NP_001035977.2 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 557 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) TTCTGGCCTCCTCTTCTCTGA 0.493000 24 58 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 177030376 177030376 + Silent SNP G G A rs143377268 TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:177030376G>A ENST00000367654.3 - 2 520 c.309C>T c.(307-309)atC>atT p.I103I ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.I103I|ASTN1_ENST00000367657.3_Silent_p.I103I|ASTN1_ENST00000361833.2_Silent_p.I103I NM_004319.1 NP_004310.1 O14525 ASTN1_HUMAN astrotactin 1 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GCACCAAAGGGATATCCTCTG 0.502000 17 179 0 0 1 0 0 HEATR5B 54497 broad.mit.edu 37 2 37227882 37227882 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:37227882C>G ENST00000233099.5 - 33 5487 c.5392G>C c.(5392-5394)Gat>Cat p.D1798H HEATR5B_ENST00000354531.2_Missense_Mutation_p.D1709H NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1798 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) ACCTGATTATCTGCAGACTTT 0.403000 17 38 0 0 1 0 0 YY2 404281 broad.mit.edu 37 X 21875005 21875005 + Nonsense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:21875005C>T ENST00000429584.2 + 1 901 c.403C>T c.(403-405)Cag>Tag p.Q135* MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR NM_206923.3 NP_996806.2 O15391 TYY2_HUMAN YY2 transcription factor 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 19 AACATCAACCCAGagccgcag 0.617000 15 29 0 0 1 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41752065 41752065 + Splice_Site SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr22:41752065G>C ENST00000352645.4 + 20 2639 c.2382G>C c.(2380-2382)aaG>aaC p.K794N ZC3H7B_ENST00000351589.4_Splice_Site_p.K794N NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 810 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 AGGAGAACAAGAGTGAGTGGG 0.612000 6 14 0 0 1 0 0 ZNF407 55628 broad.mit.edu 37 18 72344991 72344991 + Silent SNP A A G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr18:72344991A>G ENST00000299687.5 + 1 2016 c.2016A>G c.(2014-2016)aaA>aaG p.K672K ZNF407_ENST00000309902.6_Silent_p.K672K|ZNF407_ENST00000577538.1_Silent_p.K672K|ZNF407_ENST00000582337.1_Silent_p.K672K NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 672 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) AAAACGCAAAAGAGTCTATGG 0.388000 14 9 0 0 1 0 0 CCL3 6348 broad.mit.edu 37 17 34416544 34416544 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:34416544G>A ENST00000225245.5 - 2 255 c.173C>T c.(172-174)tCc>tTc p.S58F AC069363.1_ENST00000592728.1_RNA|AC069363.1_ENST00000441575.1_RNA|AC069363.1_ENST00000590992.1_RNA NM_002983.2 NP_002974.1 P10147 CCL3_HUMAN chemokine (C-C motif) ligand 3 58 cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication extracellular space|soluble fraction chemoattractant activity|chemokine activity|signal transducer activity breast(2)|lung(3)|urinary_tract(1) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ACCGGGCTTGGAGCACTGGCT 0.577000 19 81 0 0 1 0 0 ARF1 375 broad.mit.edu 37 1 228285296 228285296 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:228285296G>A ENST00000541182.1 + 4 526 c.264G>A c.(262-264)ctG>ctA p.L88L ARF1_ENST00000272102.5_Silent_p.L88L|ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000540651.1_Silent_p.L88L NM_001024227.1|NM_001024228.1 NP_001019398.1|NP_001019399.1 P84077 ARF1_HUMAN ADP-ribosylation factor 1 88 cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane GTP binding|GTPase activity|protein binding|receptor signaling protein activity breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4) 10 Prostate(94;0.0405) CGGCAGGCCTGATCTTCGTGG 0.632000 29 93 0 0 1 0 0 MRC2 9902 broad.mit.edu 37 17 60749412 60749412 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:60749412G>C ENST00000303375.5 + 8 1762 c.1360G>C c.(1360-1362)Gag>Cag p.E454Q NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 454 C-type lectin 2. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 GATGAATTTTGAGTGGTCTGA 0.567000 27 78 0 0 1 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17958826 17958826 + Nonsense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:17958826C>G ENST00000361221.3 + 16 1754 c.1595C>G c.(1594-1596)tCa>tGa p.S532* ARHGEF10L_ENST00000375408.3_Nonsense_Mutation_p.S310*|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Nonsense_Mutation_p.S493*|ARHGEF10L_ENST00000452522.1_Nonsense_Mutation_p.S493*|ARHGEF10L_ENST00000375420.3_Nonsense_Mutation_p.S290*|ARHGEF10L_ENST00000167825.4_Nonsense_Mutation_p.S240*|ARHGEF10L_ENST00000434513.1_Nonsense_Mutation_p.S532* NM_018125.3 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 532 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) CTGTTGACCTCAGGCCAGCGG 0.632000 28 68 0 0 1 0 0 SRP72 6731 broad.mit.edu 37 4 57340298 57340298 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr4:57340298G>A ENST00000342756.5 + 4 1154 c.433G>A c.(433-435)Gag>Aag p.E145K SRP72_ENST00000504757.1_Missense_Mutation_p.E145K|SRP72_ENST00000510663.1_Missense_Mutation_p.E145K NM_006947.3 NP_008878.3 O76094 SRP72_HUMAN signal recognition particle 72kDa 145 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2) 22 Glioma(25;0.08)|all_neural(26;0.101) TGATTATGATGAGGAGAGGAA 0.403000 25 37 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53670401 53670401 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:53670401C>T ENST00000262135.4 - 21 3235 c.3142G>A c.(3142-3144)Gac>Aac p.D1048N RPGRIP1L_ENST00000568009.1_5'UTR|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.D1082N|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.D1082N|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.D1048N NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 1082 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) TCATCACTGTCAGAAGCTGAC 0.348000 21 39 0 0 1 0 0 TNRC6C 57690 broad.mit.edu 37 17 76045867 76045867 + Nonsense_Mutation SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:76045867G>T ENST00000335749.4 + 3 1293 c.724G>T c.(724-726)Gaa>Taa p.E242* TNRC6C_ENST00000588847.1_Nonsense_Mutation_p.E242*|TNRC6C_ENST00000541771.1_Nonsense_Mutation_p.E242*|TNRC6C_ENST00000544502.1_Nonsense_Mutation_p.E242*|TNRC6C_ENST00000588061.1_Nonsense_Mutation_p.E242*|TNRC6C_ENST00000301624.4_Nonsense_Mutation_p.E242* NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 242 Gly-rich.|Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) GGGCAGTGCTGAAGGAATAAG 0.547000 23 43 1.55469e-16 1.64624e-16 1 1 0 WHSC1L1 54904 broad.mit.edu 37 8 38133176 38133176 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:38133176C>T ENST00000317025.8 - 24 4814 c.4297G>A c.(4297-4299)Gaa>Aaa p.E1433K WHSC1L1_ENST00000527502.1_Missense_Mutation_p.E1422K|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.E1384K NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 1433 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) TTTACTTCTTCTCCATGATCT 0.418000 T NUP98 AML 3 25 0 0 1 0 0 PLK3 1263 broad.mit.edu 37 1 45267308 45267308 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:45267308C>T ENST00000372201.4 + 4 689 c.450C>T c.(448-450)atC>atT p.I150I PLK3_ENST00000465443.1_3'UTR NM_004073.2 NP_004064.2 Q9H4B4 PLK3_HUMAN polo-like kinase 3 150 Protein kinase. membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) TGGCCCACATCTGGAAGGCCC 0.642000 11 31 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79362367 79362367 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr4:79362367G>C ENST00000264895.6 + 41 6021 c.5581G>C c.(5581-5583)Gat>Cat p.D1861H FRAS1_ENST00000325942.6_Missense_Mutation_p.D1861H NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1860 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 TTTTGCTACTGATGATGATGA 0.423000 7 11 0 0 1 0 0 TBX2 6909 broad.mit.edu 37 17 59485544 59485544 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:59485544C>G ENST00000240328.3 + 7 2097 c.1816C>G c.(1816-1818)Ctc>Gtc p.L606V RP11-332H18.4_ENST00000592009.1_RNA NM_005994.3 NP_005985.3 Q13207 TBX2_HUMAN T-box 2 606 cell aging|positive regulation of cell proliferation sequence-specific DNA binding endometrium(1)|lung(7)|ovary(1) 9 cgccgGCTCCCTCTCCCGGAG 0.697000 8 19 0 0 1 0 0 DDX5 1655 broad.mit.edu 37 17 62499397 62499397 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:62499397C>G ENST00000225792.5 - 7 1120 c.719G>C c.(718-720)aGa>aCa p.R240T DDX5_ENST00000450599.2_Missense_Mutation_p.R161T|DDX5_ENST00000578804.1_Missense_Mutation_p.R240T NM_004396.3 NP_004387.1 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 5 240 Helicase ATP-binding. cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 19 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) GGTTGTTCTTCTCAGATTGGT 0.368000 T ETV4 prostate 30 60 0 0 1 0 0 SHROOM2 357 broad.mit.edu 37 X 9914842 9914842 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:9914842C>T ENST00000380913.3 + 10 4806 c.4716C>T c.(4714-4716)ctC>ctT p.L1572L SHROOM2_ENST00000418909.2_Silent_p.L407L NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 1572 ASD2. apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) AGGAGAGCCTCGCGGACTATG 0.562000 3 10 0 0 1 0 0 MMD2 221938 broad.mit.edu 37 7 4947196 4947196 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:4947196C>G ENST00000404774.3 - 7 838 c.644G>C c.(643-645)gGa>gCa p.G215A MMD2_ENST00000406755.1_3'UTR|MMD2_ENST00000401401.3_Missense_Mutation_p.G191A NM_001100600.1 NP_001094070.1 Q8IY49 PAQRA_HUMAN monocyte to macrophage differentiation-associated 2 215 integral to membrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) GAAGACCCCTCCGGTCACCAG 0.602000 6 43 0 0 1 0 0 CCDC30 728621 broad.mit.edu 37 1 43103014 43103014 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:43103014G>C ENST00000428554.2 + 18 2746 c.1603G>C c.(1603-1605)Gat>Cat p.D535H CCDC30_ENST00000342022.4_Missense_Mutation_p.D535H|CCDC30_ENST00000390640.4_Missense_Mutation_p.D324H|CCDC30_ENST00000507855.1_Missense_Mutation_p.D324H|CCDC30_ENST00000340612.4_Missense_Mutation_p.D535H Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 535 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 CCAATTTGAAGATGAAATTGG 0.348000 20 29 0 0 1 0 0 PRDX1 5052 broad.mit.edu 37 1 45977049 45977049 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:45977049G>C ENST00000262746.1 - 6 891 c.552C>G c.(550-552)atC>atG p.I184M PRDX1_ENST00000319248.8_Missense_Mutation_p.I184M|PRDX1_ENST00000372079.1_Missense_Mutation_p.I82M NM_002574.3|NM_181696.2 NP_002565.1|NP_859047.1 Q06830 PRDX1_HUMAN peroxiredoxin 1 184 cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development melanosome|mitochondrion|nucleus protein binding|thioredoxin peroxidase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 12 Acute lymphoblastic leukemia(166;0.155) CATCAGGCTTGATGGTATCAC 0.488000 69 149 0 0 1 0 0 NXF4 55999 broad.mit.edu 37 X 101818336 101818336 + RNA SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:101818336G>A ENST00000360035.2 + 0 926 NR_002216.1 endometrium(2)|lung(8) 10 ACAGCCTTCTGATGCCCTTCT 0.493000 14 37 0 0 1 0 0 MISP 126353 broad.mit.edu 37 19 757788 757788 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:757788C>T ENST00000215582.6 + 2 945 c.842C>T c.(841-843)tCa>tTa p.S281L NM_173481.2 NP_775752.1 mitotic spindle positioning TCCTTGGCCTCAGTGGAGTCC 0.657000 28 18 0 0 1 0 0 NRCAM 4897 broad.mit.edu 37 7 107790501 107790501 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:107790501C>G ENST00000379028.3 - 33 4239 c.3769G>C c.(3769-3771)Gac>Cac p.D1257H NRCAM_ENST00000413765.2_Missense_Mutation_p.D1133H|NRCAM_ENST00000379024.4_Missense_Mutation_p.D1145H|NRCAM_ENST00000351718.4_Missense_Mutation_p.D1136H|NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000425651.2_Missense_Mutation_p.D1257H Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 1257 angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 TCTCCATAGTCAACTAGGCTG 0.443000 47 93 0 0 1 0 0 COLQ 8292 broad.mit.edu 37 3 15495391 15495391 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:15495391C>G ENST00000383788.5 - 16 1368 c.1243G>C c.(1243-1245)Gag>Cag p.E415Q COLQ_ENST00000383781.4_Missense_Mutation_p.E405Q|COLQ_ENST00000603808.1_Missense_Mutation_p.E416Q|COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000383787.2_Missense_Mutation_p.E406Q|COLQ_ENST00000383786.5_Missense_Mutation_p.E381Q|COLQ_ENST00000435459.2_Missense_Mutation_p.E405Q NM_005677.3 NP_005668.2 Q9Y215 COLQ_HUMAN collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase 415 acetylcholine catabolic process in synaptic cleft|asymmetric protein localization basal lamina|cell junction|collagen|extracellular space|synaptic cleft p.E405K(2)|p.E415K(2) endometrium(2)|large_intestine(4)|lung(10)|skin(3) 19 TCACAGTCCTCCACACCCTCA 0.587000 6 9 0 0 1 0 0 NUP133 55746 broad.mit.edu 37 1 229635538 229635538 + Nonsense_Mutation SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:229635538C>A ENST00000261396.3 - 5 632 c.541G>T c.(541-543)Gaa>Taa p.E181* NUP133_ENST00000366678.3_Nonsense_Mutation_p.E181*|NUP133_ENST00000537506.1_Nonsense_Mutation_p.E165* NM_018230.2 NP_060700.2 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 181 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) ATAGATCCTTCTCTGGTGGCA 0.453000 28 40 8.16721e-17 8.66636e-17 1 1 0 DST 667 broad.mit.edu 37 6 56342260 56342260 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:56342260C>G ENST00000370754.5 - 91 21464 c.21465G>C c.(21463-21465)aaG>aaC p.K7155N DST_ENST00000361203.3_Missense_Mutation_p.K6866N|DST_ENST00000244364.6_Missense_Mutation_p.K4563N|DST_ENST00000370788.2_Missense_Mutation_p.K4780N|DST_ENST00000446842.2_Missense_Mutation_p.K6651N|DST_ENST00000421834.2_Missense_Mutation_p.K4889N|DST_ENST00000370769.4_Missense_Mutation_p.K6977N|DST_ENST00000312431.6_3'UTR Q03001 DYST_HUMAN dystonin 6975 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GTTCAGCTCTCTTTTCTTCCA 0.428000 30 79 0 0 1 0 0 MYH10 4628 broad.mit.edu 37 17 8526411 8526411 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:8526411C>G ENST00000360416.3 - 2 292 c.154G>C c.(154-156)Gaa>Caa p.E52Q MYH10_ENST00000269243.4_Missense_Mutation_p.E52Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E52Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E52Q NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 52 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 CCCCGTTCTTCTTTGATACTA 0.443000 60 82 0 0 1 0 0 MAPK3 5595 broad.mit.edu 37 16 30128091 30128091 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:30128091G>A ENST00000484663.1 - 7 1829 c.696C>T c.(694-696)ttC>ttT p.F232F MAPK3_ENST00000403394.1_3'UTR|MAPK3_ENST00000263025.4_Silent_p.F346F|MAPK3_ENST00000322266.5_Silent_p.F302F|MAPK3_ENST00000395202.1_Silent_p.F302F|MAPK3_ENST00000395200.1_Silent_p.F278F P27361 MK03_HUMAN mitogen-activated protein kinase 3 346 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter cytosol|nucleoplasm ATP binding|MAP kinase activity|phosphatase binding Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605) TGGCGAAGGTGAAGGGCTCCT 0.667000 11 41 0 0 1 0 0 SLC2A11 66035 broad.mit.edu 37 22 24226515 24226515 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr22:24226515G>A ENST00000345044.6 + 11 1457 c.1189G>A c.(1189-1191)Gag>Aag p.E397K SLC2A11_ENST00000398356.2_Missense_Mutation_p.E404K|SLC2A11_ENST00000316185.8_Missense_Mutation_p.E400K|AP000350.10_ENST00000433835.3_Intron Q9BYW1 GTR11_HUMAN solute carrier family 2 (facilitated glucose transporter), member 11 397 integral to membrane|plasma membrane sugar transmembrane transporter activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 12 CCTGGCCACAGAGCTGTTTGA 0.647000 5 19 0 0 1 0 0 ZC3H4 23211 broad.mit.edu 37 19 47585484 47585484 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:47585484G>A ENST00000253048.5 - 10 1324 c.1287C>T c.(1285-1287)atC>atT p.I429I ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 429 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) AAAATCCAGTGATGTAAAACT 0.458000 10 75 0 0 1 0 0 ADAT1 23536 broad.mit.edu 37 16 75642880 75642880 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:75642880C>G ENST00000307921.3 - 8 1195 c.1050G>C c.(1048-1050)caG>caC p.Q350H NM_012091.3 NP_036223.2 Q9BUB4 ADAT1_HUMAN adenosine deaminase, tRNA-specific 1 350 A to I editase. tRNA processing metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity p.Q350H(1) breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1) 19 CAGACACATTCTGACACCTAA 0.428000 18 67 0 0 1 0 0 PDCD6 10016 broad.mit.edu 37 5 311422 311422 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr5:311422G>C ENST00000264933.4 + 5 482 c.382G>C c.(382-384)Gac>Cac p.D128H PDCD6_ENST00000505221.1_Intron|PDCD6_ENST00000507528.1_Missense_Mutation_p.D126H|AHRR_ENST00000505113.1_Intron|AHRR_ENST00000316418.5_Intron|PDCD6_ENST00000511482.1_3'UTR|AHRR_ENST00000512529.1_Intron NM_001267556.1|NM_001267558.1|NM_013232.3 NP_001254485.1|NP_001254487.1|NP_037364.1 O75340 PDCD6_HUMAN programmed cell death 6 128 EF-hand 4. induction of apoptosis by extracellular signals|response to calcium ion endoplasmic reticulum membrane|nuclear membrane binding, bridging|calcium ion binding|calcium-dependent protein binding breast(2)|endometrium(1)|large_intestine(4)|lung(1) 8 Epithelial(17;0.00193)|OV - Ovarian serous cystadenocarcinoma(19;0.00489)|all cancers(22;0.00511)|Lung(60;0.113) CCGGCTCTCTGACCAGTTCCA 0.582000 10 24 0 0 1 0 0 NBPF3 84224 broad.mit.edu 37 1 21771614 21771614 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:21771614G>A ENST00000318249.5 + 2 385 c.35G>A c.(34-36)tGg>tAg p.W12* NBPF3_ENST00000478653.2_3'UTR|NBPF3_ENST00000342104.5_Nonsense_Mutation_p.W12*|NBPF3_ENST00000454000.2_Nonsense_Mutation_p.W12*|NBPF3_ENST00000318220.6_5'UTR NM_032264.3 NP_115640.1 Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 12 cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GGCTTCCAGTGGACTCTCCGA 0.592000 4 25 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66467434 66467434 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr4:66467434C>T ENST00000273854.3 - 3 1435 c.835G>A c.(835-837)Gaa>Aaa p.E279K EPHA5_ENST00000432638.2_Missense_Mutation_p.E279K|EPHA5_ENST00000354839.4_Missense_Mutation_p.E279K|EPHA5_ENST00000511294.1_Missense_Mutation_p.E279K NM_001281765.1|NM_004439.5 NP_001268694.1|NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 279 Cys-rich. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity p.E279K(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 CACTCCCCTTCGGCGCTGCAG 0.522000 TSP Lung(17;0.13) 5 46 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146818149 146818149 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:146818149C>T ENST00000361727.3 + 6 1349 c.833C>T c.(832-834)tCt>tTt p.S278F NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 278 Laminin G-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CACTGGCACTCTGTGGTCATT 0.527000 HNSCC(39;0.1) 10 63 0 0 1 0 0 MTIF2 4528 broad.mit.edu 37 2 55463873 55463873 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:55463873C>G ENST00000394600.3 - 17 2831 c.2095G>C c.(2095-2097)Gac>Cac p.D699H MTIF2_ENST00000403721.1_Missense_Mutation_p.D699H|MTIF2_ENST00000263629.4_Missense_Mutation_p.D699H NM_001005369.1 NP_001005369.1 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 699 regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 24 TCCATATTGTCTTCATCTAAA 0.323000 13 39 0 0 1 0 0 HSD17B1 3292 broad.mit.edu 37 17 40705874 40705874 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:40705874C>T ENST00000585807.1 + 4 4228 c.508C>T c.(508-510)Ctg>Ttg p.L170L HSD17B1_ENST00000225929.5_Silent_p.L170L|RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA NM_000413.2 NP_000404.2 P14061 DHB1_HUMAN hydroxysteroid (17-beta) dehydrogenase 1 170 estrogen biosynthetic process cytosol binding|estradiol 17-beta-dehydrogenase activity NS(1)|endometrium(1)|kidney(1)|lung(2) 5 all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261) BRCA - Breast invasive adenocarcinoma(366;0.129) NADH(DB00157) ATGCGAGAGTCTGGCGGTTCT 0.607000 5 18 0 0 1 0 0 DAW1 164781 broad.mit.edu 37 2 228771019 228771019 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:228771019C>G ENST00000373666.2 + 9 1459 c.823C>G c.(823-825)Cta>Gta p.L275V DAW1_ENST00000309931.2_Missense_Mutation_p.L275V|DAW1_ENST00000545118.1_Missense_Mutation_p.L260V dynein assembly factor with WDR repeat domains 1 GGATTGCTCTCTAATATTAAC 0.328000 18 42 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112630890 112630890 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:112630890C>G ENST00000550722.1 - 58 9018 c.8623G>C c.(8623-8625)Gaa>Caa p.E2875Q HECTD4_ENST00000377560.5_Missense_Mutation_p.E2849Q|HECTD4_ENST00000430131.2_Missense_Mutation_p.E2599Q NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GATTGACTTTCTTTACAAGAC 0.463000 18 24 0 0 1 0 0 XYLB 9942 broad.mit.edu 37 3 38408354 38408354 + Nonsense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:38408354C>G ENST00000207870.3 + 7 653 c.563C>G c.(562-564)tCa>tGa p.S188* XYLB_ENST00000542835.1_Nonsense_Mutation_p.S51* NM_005108.3 NP_005099.2 O75191 XYLB_HUMAN xylulokinase homolog (H. influenzae) 188 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) GAGGCCTACTCACATACGGAG 0.378000 14 36 0 0 1 0 0 FOXG1 2290 broad.mit.edu 37 14 29237831 29237831 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr14:29237831C>T ENST00000382535.3 + 2 1715 c.1346C>T c.(1345-1347)tCg>tTg p.S449L FOXG1_ENST00000313071.4_Missense_Mutation_p.S449L P55316 FOXG1_HUMAN forkhead box G1 449 QAPST -> AGPPRP (in Ref. 1; CAA52240 and 2; CAA55038).|ST -> RP (in Ref. 1; CAA52239). axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) CAGGCCCCCTCGACCCTGCCC 0.582000 33 60 0 0 1 0 0 UBXN2B 137886 broad.mit.edu 37 8 59352268 59352268 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:59352268G>A ENST00000399598.2 + 6 732 c.610G>A c.(610-612)Gaa>Aaa p.E204K NM_001077619.1 NP_001071087.1 Q14CS0 UBX2B_HUMAN UBX domain protein 2B 204 SEP. cytosol|endoplasmic reticulum|Golgi apparatus|nucleus endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 TCAGGATCAAGAATACATAAA 0.393000 6 76 0 0 1 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95662061 95662061 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:95662061C>T ENST00000324972.6 + 12 1443 c.1250C>T c.(1249-1251)tCc>tTc p.S417F DYNC1I1_ENST00000359388.4_Missense_Mutation_p.S380F|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.S400F|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.S380F|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.S397F|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.S400F NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 417 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) AAAATGTGTTCCTGGAGCCTG 0.433000 30 50 0 0 1 0 0 ASCC3 10973 broad.mit.edu 37 6 101098466 101098466 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:101098466C>T ENST00000369162.2 - 20 3544 c.3200G>A c.(3199-3201)cGa>cAa p.R1067Q NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 1067 SEC63 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) CATTTCTCCTCGGCTGATATA 0.353000 18 44 0 0 1 0 0 TLN1 7094 broad.mit.edu 37 9 35714018 35714018 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr9:35714018C>G ENST00000314888.9 - 25 3534 c.3181G>C c.(3181-3183)Gag>Cag p.E1061Q TLN1_ENST00000540444.1_Missense_Mutation_p.E1061Q NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 1061 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) AGATCTTTCTCTAGATTCTGT 0.458000 49 24 0 0 1 0 0 CCAR1 55749 broad.mit.edu 37 10 70517109 70517109 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:70517109C>G ENST00000265872.6 + 15 2014 c.1895C>G c.(1894-1896)tCt>tGt p.S632C CCAR1_ENST00000543719.1_Missense_Mutation_p.S617C|CCAR1_ENST00000535016.1_Missense_Mutation_p.S617C NM_001282959.1|NM_001282960.1|NM_018237.2 NP_001269888.1|NP_001269889.1|NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 632 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 ACCCATTGGTCTAAACTTGAT 0.323000 22 70 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179485146 179485146 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:179485146C>T ENST00000589042.1 - 248 46326 c.46102G>A c.(46102-46104)Gaa>Aaa p.E15368K TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E6428K|TTN_ENST00000460472.2_Missense_Mutation_p.E6303K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12800K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E13727K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E6495K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13727 Ig-like 97. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TATTCACCTTCATCTGGGAAG 0.423000 36 80 0 0 1 0 0 RBBP4 5928 broad.mit.edu 37 1 33138292 33138292 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:33138292G>A ENST00000373493.5 + 10 1252 c.1093G>A c.(1093-1095)Gag>Aag p.E365K RBBP4_ENST00000544435.1_Missense_Mutation_p.E113K|RBBP4_ENST00000373485.1_Missense_Mutation_p.E365K|RBBP4_ENST00000414241.3_Missense_Mutation_p.E364K|RBBP4_ENST00000458695.2_Missense_Mutation_p.E330K NM_001135255.1|NM_005610.2 NP_001128727.1|NP_005601.1 Q09028 RBBP4_HUMAN retinoblastoma binding protein 4 365 cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex histone binding|histone deacetylase binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) CGGGCCACCAGAGTTGTTGGT 0.363000 12 25 0 0 1 0 0 PPHLN1 51535 broad.mit.edu 37 12 42835177 42835177 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:42835177C>G ENST00000432191.2 + 9 877 c.805C>G c.(805-807)Cct>Gct p.P269A PPHLN1_ENST00000549190.1_Missense_Mutation_p.P342A|PPHLN1_ENST00000358314.7_Missense_Mutation_p.P324A|PPHLN1_ENST00000337898.6_Missense_Mutation_p.P269A|PPHLN1_ENST00000395568.2_Missense_Mutation_p.P324A|PPHLN1_ENST00000449194.2_Missense_Mutation_p.P305A|PPHLN1_ENST00000256678.8_Missense_Mutation_p.P204A|PPHLN1_ENST00000395580.3_Missense_Mutation_p.P331A|PPHLN1_ENST00000317560.9_Missense_Mutation_p.P257A|PPHLN1_ENST00000552761.1_Missense_Mutation_p.P276A NM_001143787.1 NP_001137259.1 Q8NEY8 PPHLN_HUMAN periphilin 1 324 keratinization cytoplasm|nucleus breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 16 all_cancers(12;0.00049)|Breast(8;0.165) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0875) TGAAAAAGATCCTTCATTAGA 0.373000 27 59 0 0 1 0 0 CD101 9398 broad.mit.edu 37 1 117576549 117576549 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:117576549C>T ENST00000256652.4 + 9 2950 c.2892C>T c.(2890-2892)ttC>ttT p.F964F CD101_ENST00000369470.1_Silent_p.F964F|RP11-27K13.3_ENST00000445523.1_RNA|CD101_ENST00000467588.1_3'UTR NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4 NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2 Q93033 IGSF2_HUMAN CD101 molecule 964 cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TCTGTCCCTTCGTCCTGCTCC 0.507000 20 70 0 0 1 0 0 FKBP6 8468 broad.mit.edu 37 7 72744195 72744195 + Missense_Mutation SNP G G A rs3950376 TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:72744195G>A ENST00000252037.4 + 4 377 c.308G>A c.(307-309)cGg>cAg p.R103Q FKBP6_ENST00000431982.2_Missense_Mutation_p.R98Q|FKBP6_ENST00000413573.2_Missense_Mutation_p.R73Q NM_003602.3 NP_003593.3 O75344 FKBP6_HUMAN FK506 binding protein 6, 36kDa 103 PPIase FKBP-type. protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity p.R103Q(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 16 Lung NSC(55;0.0908)|all_lung(88;0.198) CTGAGCATGCGGAGAGGAGAG 0.537000 3 65 0 0 1 0 0 ACO1 48 broad.mit.edu 37 9 32407326 32407326 + Silent SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr9:32407326G>C ENST00000309951.6 + 3 303 c.165G>C c.(163-165)gtG>gtC p.V55V ACO1_ENST00000541043.1_5'UTR|ACO1_ENST00000379923.1_Silent_p.V55V NM_002197.2 NP_002188.1 P21399 ACOC_HUMAN aconitase 1, soluble citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 30 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) AGTTTTTGGTGAAGAAACAGG 0.403000 35 29 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152084601 152084601 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:152084601C>G ENST00000368804.1 - 2 1091 c.1092G>C c.(1090-1092)ctG>ctC p.L364L NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 364 5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) gctcgcgcctcagctgctgct 0.721000 17 36 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27802816 27802816 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:27802816G>A ENST00000408964.2 + 1 3428 c.3377G>A c.(3376-3378)cGa>cAa p.R1126Q NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1126 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CAGTGTGGCCGATGTTCAGGA 0.473000 35 70 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 180063707 180063707 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:180063707G>A ENST00000367607.3 + 34 8885 c.8467G>A c.(8467-8469)Gat>Aat p.D2823N CEP350_ENST00000490141.1_3'UTR NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 2823 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 TGAATTGGAAGATGAAAAAGA 0.398000 12 16 0 0 1 0 0 IFNAR1 3454 broad.mit.edu 37 21 34725108 34725108 + Missense_Mutation SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr21:34725108G>T ENST00000270139.3 + 9 1340 c.1188G>T c.(1186-1188)ttG>ttT p.L396F IFNAR1_ENST00000416947.2_Missense_Mutation_p.L327F|IFNAR1_ENST00000442357.2_Missense_Mutation_p.L396F NM_000629.2 NP_000620.2 P17181 INAR1_HUMAN interferon (alpha, beta and omega) receptor 1 396 Fibronectin type-III 3. JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway integral to plasma membrane type I interferon receptor activity breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2) 14 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) TTCCTAATTTGAAACCACTGA 0.328000 20 38 1.50039e-11 1.57385e-11 1 1 0 PNPLA5 150379 broad.mit.edu 37 22 44285326 44285326 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr22:44285326G>A ENST00000216177.4 - 4 717 c.585C>T c.(583-585)atC>atT p.I195I PNPLA5_ENST00000597664.1_Silent_p.I195I|PNPLA5_ENST00000593866.1_Silent_p.I81I|PNPLA5_ENST00000381198.2_Silent_p.I81I NM_138814.3 NP_620169.1 Q7Z6Z6 PLPL5_HUMAN patatin-like phospholipase domain containing 5 195 lipid catabolic process hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 16 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) TCTGGGGGCAGATGTCCACTG 0.552000 28 86 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12947860 12947860 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:12947860G>A ENST00000276297.4 - 15 4384 c.3975C>T c.(3973-3975)ctC>ctT p.L1325L DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Silent_p.L814L|DLC1_ENST00000358919.2_Silent_p.L888L|DLC1_ENST00000512044.2_Silent_p.L922L NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 1325 START. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 CACAGTCCTGGAGGAAGTGTT 0.502000 14 88 0 0 1 0 0 PNCK 139728 broad.mit.edu 37 X 152938058 152938058 + Nonsense_Mutation SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:152938058C>A ENST00000393831.2 - 3 597 c.163G>T c.(163-165)Gag>Tag p.E55* PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000447676.2_Nonsense_Mutation_p.E138*|PNCK_ENST00000370142.1_Nonsense_Mutation_p.E55*|PNCK_ENST00000340888.3_Nonsense_Mutation_p.E55*|PNCK_ENST00000370150.1_Nonsense_Mutation_p.E55*|PNCK_ENST00000370145.4_Nonsense_Mutation_p.E72* NM_001039582.3 NP_001034671.3 Q6P2M8 KCC1B_HUMAN pregnancy up-regulated nonubiquitous CaM kinase 55 Protein kinase. 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) ACCAGGGCCTCCTTGCCCCGG 0.697000 28 70 4.87955e-14 5.14525e-14 1 1 0 NPIPB15 440348 broad.mit.edu 37 16 74425496 74425496 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:74425496G>C ENST00000429990.1 + 7 946 c.850G>C c.(850-852)Gag>Cag p.E284Q nuclear pore complex interacting protein family, member B15 TAATATCAAGGAGTGTCCTCT 0.493000 56 213 0 0 1 0 0 TNFAIP3 7128 broad.mit.edu 37 6 138198296 138198296 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:138198296G>A ENST00000237289.4 + 6 955 c.889G>A c.(889-891)Gag>Aag p.E297K TNFAIP3_ENST00000485192.1_3'UTR NM_001270507.1|NM_001270508.1|NM_006290.3 NP_001257436.1|NP_001257437.1|NP_006281.1 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 297 2 X approximate repeats.|TRAF-binding. anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(25) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 225 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) TCCTGAAAATGAGATGAAGGA 0.403000 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" 26 43 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113377872 113377872 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:113377872G>A ENST00000316407.4 - 7 3067 c.2657C>T c.(2656-2658)gCa>gTa p.A886V KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.A886V NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 886 Ser-rich. regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 GGACTTTTCTGCTGACTTAGA 0.423000 34 84 0 0 1 0 0 CXorf23 256643 broad.mit.edu 37 X 19984478 19984478 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:19984478G>A ENST00000379687.3 - 2 364 c.331C>T c.(331-333)Cag>Tag p.Q111* CXorf23_ENST00000379682.4_Nonsense_Mutation_p.Q111*|CXorf23_ENST00000356980.3_Nonsense_Mutation_p.Q111* NM_198279.3 NP_938020.2 A2AJT9 CX023_HUMAN chromosome X open reading frame 23 111 mitochondrion endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1) 11 GGCATATACTGAGCTCTCCTG 0.433000 58 95 0 0 1 0 0 C1orf216 127703 broad.mit.edu 37 1 36181726 36181726 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:36181726G>A ENST00000270815.4 - 2 967 c.197C>T c.(196-198)tCt>tTt p.S66F NM_152374.1 NP_689587.1 Q8TAB5 CA216_HUMAN chromosome 1 open reading frame 216 66 kidney(2)|lung(3)|skin(2)|urinary_tract(1) 8 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) TTGGTTGTCAGAGGGTGACTC 0.602000 OREG0013357 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 39 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152348672 152348672 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:152348672G>A ENST00000427231.2 - 178 25199 c.24997C>T c.(24997-24999)Cag>Tag p.Q8333* NEB_ENST00000172853.10_Nonsense_Mutation_p.Q6477*|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000603639.1_Nonsense_Mutation_p.Q8333*|NEB_ENST00000397345.3_Nonsense_Mutation_p.Q8333*|RIF1_ENST00000457745.1_Intron|NEB_ENST00000397336.2_Nonsense_Mutation_p.Q308*|NEB_ENST00000509223.2_Nonsense_Mutation_p.Q246*|NEB_ENST00000604864.1_Nonsense_Mutation_p.Q8333*|NEB_ENST00000409198.1_Nonsense_Mutation_p.Q6477* NM_001164507.1|NM_001271208.1 NP_001157979|NP_001258137.1 P20929 NEBU_HUMAN nebulin 6477 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ACTTTCCTCTGAATACCTCGG 0.443000 48 110 0 0 1 0 0 MASTL 84930 broad.mit.edu 37 10 27475452 27475452 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:27475452G>A ENST00000375946.4 + 12 3227 c.2624G>A c.(2623-2625)gGa>gAa p.G875E MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Missense_Mutation_p.G837E|MASTL_ENST00000375940.4_Missense_Mutation_p.G876E NM_001172303.1|NM_032844.3 NP_001165774.1|NP_116233.2 Q96GX5 GWL_HUMAN microtubule associated serine/threonine kinase-like 876 AGC-kinase C-terminal. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ACTGTATCTGGATTTAGTCTG 0.393000 49 87 0 0 1 0 0 MCM9 254394 broad.mit.edu 37 6 119252668 119252668 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:119252668C>T ENST00000316316.6 - 2 507 c.221G>A c.(220-222)cGa>cAa p.R74Q MCM9_ENST00000316068.3_Missense_Mutation_p.R74Q NM_017696.2 NP_060166.2 Q9NXL9 MCM9_HUMAN minichromosome maintenance complex component 9 74 DNA replication ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194) GGCTGACCTTCGCAGTGCACT 0.433000 21 39 0 0 1 0 0 HADHA 3030 broad.mit.edu 37 2 26427023 26427023 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:26427023G>A ENST00000380649.3 - 12 1257 c.1128C>T c.(1126-1128)atC>atT p.I376I NM_000182.4 NP_000173.2 P40939 ECHA_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 376 fatty acid beta-oxidation fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding p.I376I(1) autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1) 30 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) NADH(DB00157) AGACTTGGGCGATGCCTGCTC 0.488000 88 218 0 0 1 0 0 DOK7 285489 broad.mit.edu 37 4 3487290 3487290 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr4:3487290C>T ENST00000340083.5 + 5 622 c.557C>T c.(556-558)tCg>tTg p.S186L DOK7_ENST00000507039.1_Silent_p.L182L|DOK7_ENST00000389653.2_Missense_Mutation_p.S186L NM_173660.4 NP_775931.3 Q18PE1 DOK7_HUMAN docking protein 7 186 IRS-type PTB. positive regulation of protein tyrosine kinase activity cell junction|synapse insulin receptor binding|protein kinase binding kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 5 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) TTCCTGTCCTCGGCCGAGGGG 0.652000 4 25 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207172435 207172435 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:207172435G>A ENST00000374423.3 + 5 3569 c.3183G>A c.(3181-3183)ttG>ttA p.L1061L NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1061 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TAGCTTTTTTGAAGGAAAAAC 0.318000 8 32 0 0 1 0 0 ECE2 9718 broad.mit.edu 37 3 183995832 183995832 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:183995832G>A ENST00000402825.3 + 5 952 c.952G>A c.(952-954)Gag>Aag p.E318K ECE2_ENST00000357474.5_Missense_Mutation_p.E246K|ECE2_ENST00000359140.4_Missense_Mutation_p.E171K|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.E200K NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 318 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGACCTCATTGAGAAGGTAGG 0.582000 16 35 0 0 1 0 0 FOXP4 116113 broad.mit.edu 37 6 41555233 41555233 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:41555233C>G ENST00000373060.1 + 7 1313 c.855C>G c.(853-855)ctC>ctG p.L285L FOXP4_ENST00000307972.4_Silent_p.L285L|FOXP4_ENST00000409208.1_Silent_p.L285L|FOXP4_ENST00000373063.3_Silent_p.L284L|FOXP4_ENST00000373057.3_Silent_p.L283L NM_001012426.1|NM_001012427.1 NP_001012426.1|NP_001012427.1 Q8IVH2 FOXP4_HUMAN forkhead box P4 285 embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) CTACTGTGCTCACATCTCGGA 0.662000 OREG0004065 type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 20 51 0 0 1 0 0 ADC 113451 broad.mit.edu 37 1 33585748 33585748 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:33585748G>A ENST00000294517.6 + 12 1935 c.1348G>A c.(1348-1350)Gtg>Atg p.V450M ADC_ENST00000398167.1_Missense_Mutation_p.V470M|ADC_ENST00000373441.1_Missense_Mutation_p.V470M|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_Missense_Mutation_p.V450M NM_052998.2 NP_443724.1 Q96A70 ADC_HUMAN arginine decarboxylase 450 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) CACCCTGTGCGTGGGCCCTGT 0.637000 14 45 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1025268 1025268 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:1025268C>G ENST00000421673.2 - 23 2949 c.2899G>C c.(2899-2901)Gac>Cac p.D967H NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 967 VWFD 3. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ATGCTGATGTCCACGACAAGG 0.657000 25 35 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25264757 25264757 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr13:25264757C>G ENST00000218548.6 + 7 1030 c.697C>G c.(697-699)Ctc>Gtc p.L233V ATP12A_ENST00000381946.3_Missense_Mutation_p.L233V NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 233 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) TAACTCATCTCTCACGGGGGA 0.517000 20 134 0 0 1 0 0 LRRC45 201255 broad.mit.edu 37 17 79988571 79988571 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:79988571G>A ENST00000306688.3 + 17 2245 c.1903G>A c.(1903-1905)Gag>Aag p.E635K NM_144999.2 NP_659436.1 Q96CN5 LRC45_HUMAN leucine rich repeat containing 45 635 centrosome lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 5 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CCGGGAGGCGGAGATCGCCCG 0.697000 4 7 0 0 1 0 0 LRRC71 149499 broad.mit.edu 37 1 156901818 156901818 + Splice_Site SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:156901818C>T ENST00000337428.7 + 13 1594 c.1440C>T c.(1438-1440)atC>atT p.I480I LRRC71_ENST00000490146.1_3'UTR NM_144702.2 NP_653303.2 Q8N4P6 LRC71_HUMAN leucine rich repeat containing 71 480 endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1) 12 TCAACCTCATCCGTATGTCTG 0.582000 7 12 0 0 1 0 0 ERCC6-PGBD3 101243544 broad.mit.edu 37 10 50723918 50723918 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:50723918C>T ENST00000515869.1 - 6 2767 c.2647G>A c.(2647-2649)Gat>Aat p.D883N PGBD3_ENST00000374127.3_Missense_Mutation_p.D415N|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.D883N|PGBD3_ENST00000603152.1_Missense_Mutation_p.D883N|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000508005.2_Missense_Mutation_p.D415N NM_001277059.1 NP_001263988.1 ACACTGTTATCATTCCATCTG 0.408000 16 85 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78540152 78540152 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:78540152G>A ENST00000397909.2 + 21 4860 c.4687G>A c.(4687-4689)Gaa>Aaa p.E1563K NAV3_ENST00000228327.6_Intron|NAV3_ENST00000536525.2_Missense_Mutation_p.E1563K|NAV3_ENST00000266692.7_Intron Q8IVL0 NAV3_HUMAN neuron navigator 3 1563 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TTTACAGGCTGAAGAAAAGGC 0.239000 HNSCC(70;0.22) 6 21 0 0 1 0 0 PRRT2 112476 broad.mit.edu 37 16 29825761 29825761 + Silent SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:29825761C>A ENST00000358758.7 + 3 1270 c.987C>A c.(985-987)atC>atA p.I329I PRRT2_ENST00000567659.1_Silent_p.I329I|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000300797.6_3'UTR NM_001256442.1|NM_001256443.1|NM_145239.2 NP_001243371.1|NP_001243372.1|NP_660282.2 Q7Z6L0 PRRT2_HUMAN proline-rich transmembrane protein 2 329 response to biotic stimulus integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 8 TCATCATCATCGCCTCCTGCG 0.642000 19 45 1.33834e-09 1.38653e-09 1 1 0 GALE 2582 broad.mit.edu 37 1 24125177 24125177 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:24125177C>T ENST00000374497.3 - 4 256 c.165G>A c.(163-165)ctG>ctA p.L55L GALE_ENST00000470383.1_5'UTR NM_000403.3|NM_001008216.1|NM_001127621.1 NP_000394.2|NP_001008217.1|NP_001121093.1 Q14376 GALE_HUMAN UDP-galactose-4-epimerase 55 galactose catabolic process cytosol coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2) 8 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) AGCGGCCTGTCAGCTCCTGGA 0.612000 6 10 0 0 1 0 0 NRBP1 29959 broad.mit.edu 37 2 27663526 27663526 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:27663526C>G ENST00000233557.3 + 14 1982 c.1150C>G c.(1150-1152)Cag>Gag p.Q384E NRBP1_ENST00000379863.3_Missense_Mutation_p.Q392E|NRBP1_ENST00000379852.3_Missense_Mutation_p.Q384E Q9UHY1 NRBP_HUMAN nuclear receptor binding protein 1 384 ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm ATP binding|protein homodimerization activity|protein kinase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) CAGGTACTCTCAGTCACCAGC 0.458000 7 38 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7793898 7793898 + Nonsense_Mutation SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:7793898G>T ENST00000380358.4 + 3 401 c.400G>T c.(400-402)Gag>Tag p.E134* CHD3_ENST00000330494.7_Nonsense_Mutation_p.E75*|CHD3_ENST00000358181.4_Nonsense_Mutation_p.E75*|CHD3_ENST00000570758.1_3'UTR NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 75 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) GGACAGTGAGGAGGAATTTGG 0.448000 2 1 0.0784 0.078556 1 1 0 GPR112 139378 broad.mit.edu 37 X 135427390 135427390 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:135427390C>T ENST00000394143.1 + 6 1816 c.1525C>T c.(1525-1527)Ctc>Ttc p.L509F GPR112_ENST00000287534.4_Missense_Mutation_p.L446F|GPR112_ENST00000394141.1_Missense_Mutation_p.L304F|GPR112_ENST00000412101.1_Missense_Mutation_p.L304F|GPR112_ENST00000370652.1_Missense_Mutation_p.L509F NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 509 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TTCATTGACTCTCCCAACTAG 0.423000 19 68 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1394021 1394021 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:1394021G>C ENST00000446702.2 + 12 2005 c.1378G>C c.(1378-1380)Gag>Cag p.E460Q CNTN6_ENST00000350110.2_Missense_Mutation_p.E460Q|CNTN6_ENST00000539053.1_Missense_Mutation_p.E388Q Q9UQ52 CNTN6_HUMAN contactin 6 460 Ig-like C2-type 5. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) ATTTCTCTTGGAGGATGGCAG 0.338000 19 43 0 0 1 0 0 PRKCQ 5588 broad.mit.edu 37 10 6484035 6484035 + Silent SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:6484035C>A ENST00000263125.5 - 16 1755 c.1656G>T c.(1654-1656)ctG>ctT p.L552L PRKCQ_ENST00000539722.1_Silent_p.L427L|PRKCQ_ENST00000397176.2_Intron NM_001282644.1|NM_006257.3 NP_001269573.1|NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 552 Protein kinase. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 ATTTCTGACCCAGCAAGATCT 0.507000 13 25 4.36969e-10 4.53637e-10 1 1 0 CASC1 55259 broad.mit.edu 37 12 25267707 25267707 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:25267707C>G ENST00000354189.5 - 13 1703 c.1668G>C c.(1666-1668)ttG>ttC p.L556F CASC1_ENST00000545133.1_Missense_Mutation_p.L433F|CASC1_ENST00000395987.3_Missense_Mutation_p.L498F|CASC1_ENST00000537577.1_Missense_Mutation_p.L380F|CASC1_ENST00000320267.9_Missense_Mutation_p.L492F|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395990.2_Missense_Mutation_p.L452F NM_001082972.1 NP_001076441.1 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 492 breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) CATCTTGAATCAAGGTAACAG 0.388000 17 41 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86266526 86266526 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:86266526G>A ENST00000394518.2 + 26 6815 c.6720G>A c.(6718-6720)ctG>ctA p.L2240L AKAP13_ENST00000361243.2_Silent_p.L2244L|AKAP13_ENST00000394510.2_Silent_p.L485L|AKAP13_ENST00000560579.1_3'UTR NM_001270546.1|NM_007200.4 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 2240 Interaction with ESR1.|PH. 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 GTGTGTTTCTGAAGAATGCAG 0.423000 10 34 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47841934 47841934 + Nonsense_Mutation SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr21:47841934G>T ENST00000359568.5 + 32 7182 c.7075G>T c.(7075-7077)Gag>Tag p.E2359* PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2359 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) AGGAGGCCCTGAGGCTCAAAC 0.607000 16 52 6.31663e-08 6.49066e-08 1 1 0 AQR 9716 broad.mit.edu 37 15 35178756 35178756 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:35178756C>T ENST00000156471.5 - 25 3013 c.2788G>A c.(2788-2790)Gaa>Aaa p.E930K NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 930 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) CCTGCAGTTTCACAGGTATAT 0.378000 26 83 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5905654 5905654 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr20:5905654G>C ENST00000378961.4 + 5 2197 c.1993G>C c.(1993-1995)Gaa>Caa p.E665Q NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 665 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 AATGGATTTGGAACTACAGAA 0.438000 11 29 0 0 1 0 0 CLNS1A 1207 broad.mit.edu 37 11 77330732 77330732 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:77330732C>G ENST00000525428.1 - 6 745 c.655G>C c.(655-657)Gag>Cag p.E219Q CLNS1A_ENST00000263309.3_Missense_Mutation_p.E185Q|CLNS1A_ENST00000525064.1_Missense_Mutation_p.E161Q|CLNS1A_ENST00000528364.1_Missense_Mutation_p.E219Q|CLNS1A_ENST00000532069.1_Missense_Mutation_p.E149Q NM_001293.2 NP_001284.1 P54105 ICLN_HUMAN chloride channel, nucleotide-sensitive, 1A 219 blood circulation|cell volume homeostasis|chloride transport|ncRNA metabolic process|spliceosomal snRNP assembly cytoskeleton|cytosol|nucleus|plasma membrane protein binding breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 5 all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19) Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30) GTATCCACCTCCATCCCATCT 0.388000 14 126 0 0 1 0 0 GRP 2922 broad.mit.edu 37 18 56897662 56897662 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr18:56897662C>G ENST00000256857.2 + 3 507 c.409C>G c.(409-411)Caa>Gaa p.Q137E GRP_ENST00000420468.2_Missense_Mutation_p.Q130E|GRP_ENST00000529320.2_Silent_p.L130L NM_001012512.1|NM_002091.3 NP_001012530.1|NP_002082.2 P07492 GRP_HUMAN gastrin-releasing peptide 137 neuropeptide signaling pathway extracellular space neuropeptide hormone activity large_intestine(1)|lung(3) 4 Colorectal(73;0.0946) TCCAGGTTCTCAACGTGAAGG 0.428000 24 22 0 0 1 0 0 C3orf70 285382 broad.mit.edu 37 3 184870595 184870595 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:184870595G>A ENST00000335012.2 - 1 207 c.17C>T c.(16-18)tCg>tTg p.S6L NM_001025266.1 NP_001020437.1 A6NLC5 CC070_HUMAN chromosome 3 open reading frame 70 6 p.S6L(2) breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1) 13 CGACGCCGGCGAGGCCGCCGC 0.716000 11 16 0 0 1 0 0 MALT1 10892 broad.mit.edu 37 18 56376610 56376610 + Splice_Site SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr18:56376610G>A ENST00000348428.3 + 5 908 c.650G>A c.(649-651)aGa>aAa p.R217K MALT1_ENST00000345724.3_Splice_Site_p.R217K|RP11-126O1.4_ENST00000588835.1_RNA NM_006785.2|NM_173844.1 NP_006776.1|NP_776216.1 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma translocation gene 1 217 Ig-like C2-type 2. Breakpoint for translocation to form BIRC2-MALT1. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1) 12 TTAATTTAAGGAAGTGTTGAT 0.343000 T BIRC3 MALT 13 36 0 0 1 0 0 PIK3CB 5291 broad.mit.edu 37 3 138374305 138374305 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:138374305C>T ENST00000477593.1 - 23 3212 c.3139G>A c.(3139-3141)Gag>Aag p.E1047K PIK3CB_ENST00000544716.1_Missense_Mutation_p.E498K|PIK3CB_ENST00000289153.2_Missense_Mutation_p.E1047K P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 1047 PI3K/PI4K. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E1047K(1) NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 CTGAGCGCCTCATCAAATTTT 0.408000 25 60 0 0 1 0 0 KIF7 374654 broad.mit.edu 37 15 90190165 90190165 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:90190165G>A ENST00000394412.3 - 7 1760 c.1684C>T c.(1684-1686)Cga>Tga p.R562* NM_198525.2 NP_940927.2 Q2M1P5 KIF7_HUMAN kinesin family member 7 562 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 25 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) GTATGAGGTCGAGGCACAAAG 0.692000 OREG0023460 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 19 0 0 1 0 0 KIAA1841 84542 broad.mit.edu 37 2 61310373 61310373 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:61310373C>G ENST00000402291.1 + 8 1055 c.814C>G c.(814-816)Ctt>Gtt p.L272V KIAA1841_ENST00000356719.2_Missense_Mutation_p.L272V|KIAA1841_ENST00000295031.5_Missense_Mutation_p.L272V|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Missense_Mutation_p.L272V NM_001129993.1 NP_001123465.1 Q6NSI8 K1841_HUMAN KIAA1841 272 breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) TAATGCAAATCTTCTCACACG 0.299000 26 62 0 0 1 0 0 B3GAT1 27087 broad.mit.edu 37 11 134254017 134254017 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:134254017C>T ENST00000524765.1 - 3 4722 c.178G>A c.(178-180)Gac>Aac p.D60N B3GAT1_ENST00000312527.4_Missense_Mutation_p.D60N|B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000537389.1_Missense_Mutation_p.D73N|B3GAT1_ENST00000392580.1_Missense_Mutation_p.D60N Q9P2W7 B3GA1_HUMAN beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) 60 carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) ATGTCGCGGTCAGACGTGCAG 0.692000 5 11 0 0 1 0 0 TICRR 90381 broad.mit.edu 37 15 90167053 90167053 + Nonsense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:90167053C>G ENST00000268138.7 + 20 3617 c.3512C>G c.(3511-3513)tCa>tGa p.S1171* TICRR_ENST00000560985.1_Nonsense_Mutation_p.S1170*|KIF7_ENST00000558928.1_Intron TOPBP1-interacting checkpoint and replication regulator CCATTGGATTCAAAAATCACT 0.493000 4 98 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13768147 13768147 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:13768147G>A ENST00000609686.1 - 7 1764 c.1555C>T c.(1555-1557)Cga>Tga p.R519* NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ACCTCCGATCGTTCCTCATTG 0.517000 21 38 0 0 1 0 0 SCML2 10389 broad.mit.edu 37 X 18275147 18275147 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:18275147G>C ENST00000251900.4 - 11 1436 c.1277C>G c.(1276-1278)tCc>tGc p.S426C SCML2_ENST00000398048.3_Missense_Mutation_p.S162C NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) 426 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) CCCATCAAAGGAGGCTATTGG 0.403000 23 44 0 0 1 0 0 MITF 4286 broad.mit.edu 37 3 69915496 69915496 + Splice_Site SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:69915496C>T ENST00000314589.5 + 1 67 c.55C>T c.(55-57)Ctc>Ttc p.L19F MITF_ENST00000352241.4_Intron|MITF_ENST00000448226.2_Intron|MITF_ENST00000328528.6_Intron|MITF_ENST00000472437.1_Intron O75030 MITF_HUMAN microphthalmia-associated transcription factor 499 melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2) 30 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) AAGCTTGTATCTGTAAGTGAA 0.413000 A melanoma """Waardenburg syndrome type 2, Tietz syndrome""" 11 80 0 0 1 0 0 PPP2R3B 28227 broad.mit.edu 37 X 306333 306333 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:306333G>A ENST00000390665.3 - 7 972 c.954C>T c.(952-954)gtC>gtT p.V318V NM_013239.4 NP_037371.2 Q9Y5P8 P2R3B_HUMAN protein phosphatase 2, regulatory subunit B'', beta 318 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity endometrium(5)|lung(5)|skin(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGCAGTAGATGACGTAGAAAT 0.617000 23 49 0 0 1 0 0 OR5H6 79295 broad.mit.edu 37 3 97983323 97983323 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:97983323C>G ENST00000383696.2 + 1 236 c.195C>G c.(193-195)atC>atG p.I65M RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TTGTTCTCATCTGGAAAGACC 0.418000 82 228 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140870916 140870916 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr5:140870916C>G ENST00000252087.1 + 1 2109 c.2109C>G c.(2107-2109)ctC>ctG p.L703L PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 703 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGTCAGTCTCTTATCCCTAG 0.567000 22 98 0 0 1 0 0 DDX18 8886 broad.mit.edu 37 2 118578755 118578755 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:118578755C>T ENST00000263239.2 + 4 661 c.533C>T c.(532-534)tCg>tTg p.S178L DDX18_ENST00000474694.1_3'UTR NM_006773.3 NP_006764.3 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 178 ATP binding|ATP-dependent RNA helicase activity|RNA binding p.S178L(1) breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GAGGATACTTCGTTTGCTTCT 0.299000 14 36 0 0 1 0 0 LINC01317 104355287 broad.mit.edu 37 2 33952636 33952636 + RNA SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:33952636G>A ENST00000366209.2 + 0 68 MYADML_ENST00000474610.1_RNA CCACACAGGCGATGCCAGAGA 0.657000 5 10 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89391234 89391234 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:89391234C>G ENST00000336596.2 + 5 1525 c.1300C>G c.(1300-1302)Cag>Gag p.Q434E EPHA3_ENST00000494014.1_Missense_Mutation_p.Q434E|EPHA3_ENST00000452448.2_Missense_Mutation_p.Q434E NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 434 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) CACAACTAATCAGGCTGGTGA 0.458000 TSP Lung(6;0.00050) 14 38 0 0 1 0 0 GPR157 80045 broad.mit.edu 37 1 9188805 9188805 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:9188805G>A ENST00000377411.4 - 1 424 c.282C>T c.(280-282)ttC>ttT p.F94F GPR157_ENST00000414642.2_Silent_p.F94F NM_024980.4 NP_079256.4 Q5UAW9 GP157_HUMAN G protein-coupled receptor 157 94 integral to membrane|plasma membrane G-protein coupled receptor activity lung(4)|prostate(1) 5 all_lung(157;0.185) all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642) CGGTCCAGAAGAAGGAGCTGG 0.652000 5 18 0 0 1 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73197089 73197089 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr5:73197089G>A ENST00000545377.1 + 31 4230 c.4054G>A c.(4054-4056)Gtc>Atc p.V1352I ARHGEF28_ENST00000437974.1_Missense_Mutation_p.V1352I|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.V1352I|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.V1308I|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.V1352I|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.V1039I|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.V272I|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.V1352I NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 CGACTTGGCCGTCTCTGATGC 0.517000 11 10 0 0 1 0 0 TONSL 4796 broad.mit.edu 37 8 145667439 145667439 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:145667439G>C ENST00000409379.3 - 7 875 c.846C>G c.(844-846)atC>atG p.I282M NM_013432.4 NP_038460.4 Q96HA7 TONSL_HUMAN tonsoku-like, DNA repair protein 282 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1) 26 GGTTCTGACAGATGGCTGCCC 0.652000 10 28 0 0 1 0 0 TBX2 6909 broad.mit.edu 37 17 59479191 59479191 + Missense_Mutation SNP A A G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:59479191A>G ENST00000240328.3 + 2 823 c.542A>G c.(541-543)gAg>gGg p.E181G RP11-332H18.4_ENST00000592009.1_RNA NM_005994.3 NP_005985.3 Q13207 TBX2_HUMAN T-box 2 181 cell aging|positive regulation of cell proliferation sequence-specific DNA binding endometrium(1)|lung(7)|ovary(1) 9 GCCGACCCTGAGATGCCCAAA 0.577000 3 53 0 0 1 0 0 KIF18A 81930 broad.mit.edu 37 11 28113034 28113034 + Silent SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:28113034G>C ENST00000263181.6 - 4 800 c.510C>G c.(508-510)ctC>ctG p.L170L NM_031217.3 NP_112494.3 Q8NI77 KI18A_HUMAN kinesin family member 18A 170 Kinesin-motor. blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 AATTTACTAAGAGATCACGAA 0.348000 34 101 0 0 1 0 0 CCDC113 29070 broad.mit.edu 37 16 58286671 58286671 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:58286671G>C ENST00000219299.4 + 2 221 c.142G>C c.(142-144)Gag>Cag p.E48Q CCDC113_ENST00000443128.2_Missense_Mutation_p.E48Q|CCDC113_ENST00000566498.1_3'UTR NM_014157.3 NP_054876.2 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 48 protein complex large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1) 12 TGAGATGTTTGAGAAATATTA 0.398000 12 80 0 0 1 0 0 TRAF3IP1 26146 broad.mit.edu 37 2 239242647 239242647 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:239242647C>T ENST00000373327.4 + 7 1256 c.1034C>T c.(1033-1035)tCa>tTa p.S345L TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.S345L|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.S345L NM_015650.3 NP_056465.2 Q8TDR0 MIPT3_HUMAN TNF receptor-associated factor 3 interacting protein 1 345 DISC1-interaction domain. cytoplasm|cytoskeleton protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2) 23 all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182) Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184) ACAAAAACATCAAAACGGCGA 0.294000 21 51 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40400429 40400429 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:40400429C>T ENST00000338305.6 - 2 966 c.424G>A c.(424-426)Gag>Aag p.E142K NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 142 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) TCAAAAGCCTCATCTGCGATG 0.597000 13 29 0 0 1 0 0 RAI2 10742 broad.mit.edu 37 X 17819644 17819644 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:17819644C>T ENST00000545871.1 - 3 947 c.487G>A c.(487-489)Gag>Aag p.E163K RAI2_ENST00000331511.1_Missense_Mutation_p.E163K|RAI2_ENST00000451717.1_Missense_Mutation_p.E163K|RAI2_ENST00000360011.1_Missense_Mutation_p.E163K|RAI2_ENST00000415486.3_Missense_Mutation_p.E113K NM_001172739.1|NM_001172743.1 NP_001166210|NP_001166214 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 163 embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) GGCTGGGCCTCGGGGTCCTCC 0.627000 20 55 0 0 1 0 0 CFHR4 10877 broad.mit.edu 37 1 196887385 196887385 + Missense_Mutation SNP A A T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:196887385A>T ENST00000367416.2 + 10 1720 c.1583A>T c.(1582-1584)cAg>cTg p.Q528L CFHR4_ENST00000608469.1_Missense_Mutation_p.Q152L|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.Q282L|CFHR4_ENST00000367418.2_Missense_Mutation_p.Q282L NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 p.Q528R(1)|p.Q282R(1) NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 AATAACATACAGTTAAAAGGA 0.279000 8 72 0 0 1 0 0 SEPT4 5414 broad.mit.edu 37 17 56604309 56604309 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:56604309C>T ENST00000426861.1 - 2 120 c.34G>A c.(34-36)Gat>Aat p.D12N SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000317268.3_Missense_Mutation_p.D31N|SEPT4_ENST00000580844.1_Intron|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000580791.1_5'UTR|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000580809.1_Intron|SEPT4_ENST00000583114.1_5'UTR|SEPT4_ENST00000317256.6_Missense_Mutation_p.D12N|SEPT4_ENST00000412945.3_Missense_Mutation_p.D23N|SEPT4_ENST00000457347.2_Missense_Mutation_p.D46N|SEPT4_ENST00000393086.1_Missense_Mutation_p.D12N NM_080415.2 NP_536340.1 O43236 SEPT4_HUMAN septin 4 31 apoptosis|cell cycle|cytokinesis|regulation of apoptosis cytoskeleton|mitochondrion|nucleus GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGTTCTCCATCATCCGTGGTG 0.587000 34 67 0 0 1 0 0 SEMA4B 10509 broad.mit.edu 37 15 90771203 90771203 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:90771203C>G ENST00000411539.2 + 14 2102 c.1842C>G c.(1840-1842)ctC>ctG p.L614L SEMA4B_ENST00000379122.3_Silent_p.L609L|SEMA4B_ENST00000332496.6_Silent_p.L614L NM_198925.2 NP_945119.1 sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1) 12 Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) GCCCGCTCCTCTCCAACCTGG 0.642000 11 26 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97869931 97869931 + Missense_Mutation SNP A A T rs76309140 TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:97869931A>T ENST00000420699.2 + 50 3236 c.2992A>T c.(2992-2994)Aca>Tca p.T998S ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 998 p.T998S(13) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 CATTCAGGCTACAAGTGATGA 0.289000 3 18 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181705515 181705515 + Missense_Mutation SNP A A G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:181705515A>G ENST00000526775.1 + 21 3475 c.3310A>G c.(3310-3312)Aca>Gca p.T1104A CACNA1E_ENST00000367570.1_Missense_Mutation_p.T1123A|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T1104A|CACNA1E_ENST00000367567.4_Missense_Mutation_p.T730A|CACNA1E_ENST00000367573.2_Missense_Mutation_p.T1123A|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T1055A|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T1074A NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1123 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 gaagCGTGAGACAGGCAAAGC 0.547000 11 16 0 0 1 0 0 GATA3 2625 broad.mit.edu 37 10 8100430 8100430 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:8100430C>T ENST00000379328.3 + 3 972 c.404C>T c.(403-405)cCg>cTg p.P135L GATA3_ENST00000346208.3_Missense_Mutation_p.P135L|GATA3_ENST00000461472.1_3'UTR NM_001002295.1|NM_002051.2 NP_001002295.1|NP_002042.1 P23771 GATA3_HUMAN GATA binding protein 3 135 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 GTCTACCCCCCGGCCTCGTCC 0.721000 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" 17 30 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152188170 152188170 + Missense_Mutation SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:152188170G>T ENST00000368801.2 - 3 6010 c.5935C>A c.(5935-5937)Cca>Aca p.P1979T FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1979 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACTCATATGGGCCACGGCTG 0.597000 69 550 6.01439e-56 6.4637e-56 1 1 0 ZFAND6 54469 broad.mit.edu 37 15 80414150 80414150 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:80414150C>T ENST00000261749.6 + 4 673 c.251C>T c.(250-252)tCt>tTt p.S84F ZFAND6_ENST00000561060.1_Missense_Mutation_p.S84F|ZFAND6_ENST00000558688.1_Missense_Mutation_p.S84F|ZFAND6_ENST00000559835.1_Missense_Mutation_p.S84F|ZFAND6_ENST00000558087.1_Missense_Mutation_p.S84F|ZFAND6_ENST00000558494.1_Missense_Mutation_p.S84F|ZFAND6_ENST00000559775.1_Missense_Mutation_p.S84F|ZFAND6_ENST00000559157.1_Missense_Mutation_p.S72F NM_001242913.1|NM_001242914.1|NM_019006.3 NP_001229842.1|NP_001229843.1|NP_061879.2 Q6FIF0 ZFAN6_HUMAN zinc finger, AN1-type domain 6 84 Ser-rich. DNA binding|zinc ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 11 ACATCTTCATCTATGCAGCCC 0.388000 7 21 0 0 1 0 0 PCDH12 51294 broad.mit.edu 37 5 141335988 141335988 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr5:141335988G>C ENST00000231484.3 - 1 2639 c.1429C>G c.(1429-1431)Ctt>Gtt p.L477V NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 477 Cadherin 5. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGAGGTGAAGAGAGGGTAAG 0.463000 34 18 0 0 1 0 0 DNAJC10 54431 broad.mit.edu 37 2 183621176 183621176 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:183621176G>C ENST00000264065.7 + 18 2204 c.1789G>C c.(1789-1791)Gaa>Caa p.E597Q NM_018981.1 NP_061854.1 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 Thioredoxin 3. apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) CTTAATGCCAGAATGGAAAAG 0.348000 31 53 0 0 1 0 0 MPP7 143098 broad.mit.edu 37 10 28527520 28527520 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:28527520G>A ENST00000337532.5 - 3 290 c.14C>T c.(13-15)tCa>tTa p.S5L MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000540098.1_Missense_Mutation_p.S5L|MPP7_ENST00000445954.2_5'UTR|MPP7_ENST00000375732.1_Missense_Mutation_p.S5L|MPP7_ENST00000375719.3_Missense_Mutation_p.S5L NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 5 establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 AGATCCCGTTGACAAAGCTGG 0.512000 14 40 0 0 1 0 0 KIF18A 81930 broad.mit.edu 37 11 28119266 28119266 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:28119266C>G ENST00000263181.6 - 2 519 c.229G>C c.(229-231)Gat>Cat p.D77H NM_031217.3 NP_112494.3 Q8NI77 KI18A_HUMAN kinesin family member 18A 77 Kinesin-motor. blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 AAAACAGCATCAAATACAAAT 0.299000 10 43 0 0 1 0 0 C9orf69 90120 broad.mit.edu 37 9 139008402 139008402 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr9:139008402G>A ENST00000418388.1 - 2 847 c.345C>T c.(343-345)ctC>ctT p.L115L C9orf69_ENST00000561457.1_3'UTR chromosome 9 open reading frame 69 endometrium(1) 1 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06) TGCCATAGACGAGCAGCTCGT 0.657000 12 9 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63947995 63947995 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:63947995C>G ENST00000443617.2 - 50 10117 c.10030G>C c.(10030-10032)Gac>Cac p.D3344H NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 3344 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 GCCCCTTTGTCTGCTAGCAAT 0.413000 5 4 0 0 1 0 0 NR1H4 9971 broad.mit.edu 37 12 100904639 100904639 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:100904639C>T ENST00000548884.1 + 4 704 c.163C>T c.(163-165)Ccc>Tcc p.P55S NR1H4_ENST00000188403.7_Missense_Mutation_p.P65S|NR1H4_ENST00000549996.1_Missense_Mutation_p.P55S|NR1H4_ENST00000551379.1_Missense_Mutation_p.P65S|NR1H4_ENST00000392986.3_Missense_Mutation_p.P55S NM_001206977.1|NM_001206979.1|NM_005123.3 NP_001193906.1|NP_001193908.1|NP_005114.1 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 65 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44 TGTTCAGTTTCCCCAAGTTCA 0.458000 7 55 0 0 1 0 0 VWCE 220001 broad.mit.edu 37 11 61034981 61034981 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:61034981C>T ENST00000335613.5 - 16 2304 c.1918G>A c.(1918-1920)Gag>Aag p.E640K VWCE_ENST00000535710.1_Missense_Mutation_p.E105K NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 640 VWFC 5. extracellular region calcium ion binding p.E640K(1) biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 GGGAAGGTCTCGTTGTTATAG 0.607000 14 41 0 0 1 0 0 BBS2 583 broad.mit.edu 37 16 56531756 56531756 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:56531756C>T ENST00000245157.5 - 14 2116 c.1696G>A c.(1696-1698)Gat>Aat p.D566N BBS2_ENST00000568104.1_Intron NM_031885.3 NP_114091 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 566 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3) 26 TGGATGATATCACCAGCCAAA 0.348000 Bardet-Biedl syndrome 35 49 0 0 1 0 0 RSRC1 51319 broad.mit.edu 37 3 157839929 157839929 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:157839929C>T ENST00000464171.1 + 2 161 c.36C>T c.(34-36)agC>agT p.S12S RSRC1_ENST00000312179.6_Silent_p.S12S|RSRC1_ENST00000475278.2_Silent_p.S12S|RSRC1_ENST00000480820.1_Silent_p.S12S|RSRC1_ENST00000295930.3_Silent_p.S12S NM_001271834.1 NP_001258763.1 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 12 Arg/Ser-rich. nucleocytoplasmic transport cytoplasm|nuclear speck protein binding cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 18 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) AAGAAGAAAGCAGAAGCAAGA 0.388000 5 32 0 0 1 0 0 IGSF22 283284 broad.mit.edu 37 11 18737214 18737214 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:18737214C>G ENST00000513874.1 - 11 1435 c.1296G>C c.(1294-1296)gaG>gaC p.E432D RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 432 Ig-like 3. p.E432D(2) NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 CGCGACTCCTCTCTTTCACAC 0.517000 31 58 0 0 1 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138793963 138793963 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:138793963C>T ENST00000242351.5 - 1 431 c.115G>A c.(115-117)Gag>Aag p.E39K ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.E39K|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.E39K NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 39 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 TGCAGCACCTCACAGAGCTGC 0.692000 6 7 0 0 1 0 0 IGF2BP3 10643 broad.mit.edu 37 7 23509577 23509577 + Silent SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:23509577G>C ENST00000258729.3 - 1 509 c.153C>G c.(151-153)ctC>ctG p.L51L NM_006547.2 NP_006538.2 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding protein 3 51 RRM 1. anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1) 34 CGATGGCCTTGAGGGCCCAGC 0.697000 7 37 0 0 1 0 0 AAMP 14 broad.mit.edu 37 2 219131678 219131678 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:219131678G>A ENST00000248450.4 - 4 596 c.426C>T c.(424-426)ttC>ttT p.F142F AAMP_ENST00000420660.1_Silent_p.F123F|AAMP_ENST00000444053.1_Silent_p.F143F Q13685 AAMP_HUMAN angio-associated, migratory cell protein 142 angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration cell surface|cytoplasm|plasma membrane heparin binding haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1) 11 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGTCATGGCTGAAACCAGCAC 0.512000 11 57 0 0 1 0 0 MCPH1 79648 broad.mit.edu 37 8 6500547 6500547 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:6500547G>C ENST00000344683.5 + 14 2561 c.2485G>C c.(2485-2487)Gaa>Caa p.E829Q CTD-2541M15.1_ENST00000527490.1_RNA|CTD-2541M15.1_ENST00000515608.1_RNA|MCPH1_ENST00000521175.1_3'UTR|CTD-2541M15.1_ENST00000522897.1_RNA|CTD-2541M15.1_ENST00000525186.1_RNA NM_024596.3 NP_078872 Q8NEM0 MCPH1_HUMAN microcephalin 1 829 BRCT 3. microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) CTGTGCCCCTGAAAACTACCT 0.448000 3 28 0 0 1 0 0 GSAP 54103 broad.mit.edu 37 7 76982337 76982337 + Nonsense_Mutation SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:76982337G>T ENST00000257626.7 - 18 1493 c.1415C>A c.(1414-1416)tCa>tAa p.S472* NM_017439.3 NP_059135.2 gamma-secretase activating protein ACTCCAGTATGAAGAAGCTGA 0.373000 38 82 2.54651e-27 2.72511e-27 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR 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 5 83 0 0 1 0 0 IMP4 92856 broad.mit.edu 37 2 131102277 131102277 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:131102277G>C ENST00000259239.3 + 3 896 c.188G>C c.(187-189)gGa>gCa p.G63A IMP4_ENST00000409935.1_Missense_Mutation_p.G63A NM_033416.1 NP_219484.1 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) 63 rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding p.G63V(1) central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 18 Colorectal(110;0.1) GATGATGCTGGAGGTGAAGGT 0.567000 10 37 0 0 1 0 0 ARPC4 10093 broad.mit.edu 37 3 9845538 9845538 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:9845538C>G ENST00000397261.3 + 5 906 c.342C>G c.(340-342)atC>atG p.I114M ARPC4_ENST00000433034.1_Missense_Mutation_p.I133M|ARPC4_ENST00000498623.2_Missense_Mutation_p.I24M|ARPC4_ENST00000287613.7_Missense_Mutation_p.I24M|ARPC4-TTLL3_ENST00000397256.1_Intron NM_005718.4 NP_005709.1 actin related protein 2/3 complex, subunit 4, 20kDa breast(1)|lung(1) 2 Medulloblastoma(99;0.227) GGTATGATATCAGCTTTCTGA 0.488000 51 101 0 0 1 0 0 MAPKAPK3 7867 broad.mit.edu 37 3 50685414 50685414 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:50685414C>G ENST00000446044.1 + 13 1682 c.1086C>G c.(1084-1086)ctC>ctG p.L362L MAPKAPK3_ENST00000357955.2_Silent_p.L362L NM_001243926.1 NP_001230855.1 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated protein kinase 3 362 activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity central_nervous_system(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) ACCGGCTCCTCAACAAGAGGA 0.577000 17 41 0 0 1 0 0 CERS5 91012 broad.mit.edu 37 12 50524372 50524372 + Missense_Mutation SNP G G A rs147527651 TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:50524372G>A ENST00000317551.6 - 10 1259 c.1135C>T c.(1135-1137)Cgg>Tgg p.R379W CERS5_ENST00000422340.2_Missense_Mutation_p.R321W NM_147190.2 NP_671723.1 Q8N5B7 CERS5_HUMAN ceramide synthase 5 379 ceramide biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity CCATTCACCCGATTGGCACCA 0.522000 34 64 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121435584 121435584 + Splice_Site SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:121435584C>A ENST00000393667.3 - 9 1398 c.1288G>T c.(1288-1290)Gat>Tat p.D430Y GOLGB1_ENST00000340645.5_Splice_Site_p.D425Y NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 425 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) AGCTACTGACCTTCCAGTTGC 0.418000 29 71 2.81731e-10 2.93993e-10 1 1 0 PPFIBP2 8495 broad.mit.edu 37 11 7661079 7661079 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:7661079G>A ENST00000299492.4 + 15 1741 c.1353G>A c.(1351-1353)acG>acA p.T451T PPFIBP2_ENST00000528883.1_Silent_p.T339T|PPFIBP2_ENST00000533792.1_Silent_p.T293T|PPFIBP2_ENST00000530181.1_Silent_p.T308T|PPFIBP2_ENST00000530582.1_3'UTR NM_003621.3 NP_003612 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 (liprin beta 2) 451 cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) CTGACGCCACGGGGAGCAGCC 0.577000 28 36 0 0 1 0 0 NOC2L 26155 broad.mit.edu 37 1 881822 881822 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:881822C>T ENST00000327044.6 - 15 1812 c.1763G>A c.(1762-1764)cGc>cAc p.R588H NM_015658.3 NP_056473 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog (S. cerevisiae) 588 nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) AACCCTCTGGCGGCGGCTGCA 0.627000 12 56 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51900569 51900569 + Nonsense_Mutation SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:51900569G>T ENST00000268919.4 + 1 331 c.175G>T c.(175-177)Gag>Tag p.E59* NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 59 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GGTCACGGTAGAGTGGGTGGA 0.542000 28 65 1.06801e-11 1.12147e-11 1 1 0 NKX2-3 159296 broad.mit.edu 37 10 101294995 101294995 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:101294995G>C ENST00000344586.7 + 2 811 c.612G>C c.(610-612)aaG>aaC p.K204N NM_145285.2 NP_660328.2 Q8TAU0 NKX23_HUMAN NK2 homeobox 3 204 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 5 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.45e-08) ACAAGTGCAAGAGACAGCGGC 0.667000 5 7 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55968538 55968538 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr4:55968538C>G ENST00000263923.4 - 14 2420 c.2125G>C c.(2125-2127)Gaa>Caa p.E709Q NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 709 Ig-like C2-type 7. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CCTGAGTCTTCTACAAGGGTC 0.413000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 42 49 0 0 1 0 0 OXCT1 5019 broad.mit.edu 37 5 41794150 41794150 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr5:41794150C>G ENST00000196371.5 - 13 1363 c.1203G>C c.(1201-1203)gcG>gcC p.A401A OXCT1_ENST00000513081.1_5'UTR|OXCT1_ENST00000512084.1_Silent_p.A4A|OXCT1_ENST00000509987.1_Silent_p.A215A|OXCT1_ENST00000510634.1_Silent_p.A4A NM_000436.3 NP_000427.1 P55809 SCOT1_HUMAN 3-oxoacid CoA transferase 1 401 cellular lipid metabolic process|ketone body catabolic process mitochondrial matrix 3-oxoacid CoA-transferase activity|protein homodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2) 28 Succinic acid(DB00139) AAACCTGCATCGCTCCTAGCA 0.383000 51 168 0 0 1 0 0 USP45 85015 broad.mit.edu 37 6 99894213 99894213 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:99894213C>T ENST00000327681.6 - 14 1967 c.1435G>A c.(1435-1437)Gag>Aag p.E479K USP45_ENST00000369233.2_Missense_Mutation_p.E431K|USP45_ENST00000392738.2_Missense_Mutation_p.E159K|USP45_ENST00000539675.1_Intron|USP45_ENST00000500704.2_Missense_Mutation_p.E479K NM_001080481.1 NP_001073950.1 Q70EL2 UBP45_HUMAN ubiquitin specific peptidase 45 479 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 22 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) AGACGTGACTCAGAATTCATG 0.393000 31 43 0 0 1 0 0 ATL3 25923 broad.mit.edu 37 11 63400560 63400560 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:63400560C>T ENST00000398868.3 - 11 1321 c.1045G>A c.(1045-1047)Gaa>Aaa p.E349K ATL3_ENST00000332645.4_Missense_Mutation_p.E376K|ATL3_ENST00000538786.1_Missense_Mutation_p.E331K NM_015459.3 NP_056274.3 Q6DD88 ATLA3_HUMAN atlastin GTPase 3 349 endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 11 TTGTTGGCTTCAGCAGTGGCC 0.388000 22 44 0 0 1 0 0 ELMSAN1 91748 broad.mit.edu 37 14 74186066 74186066 + Missense_Mutation SNP C C G rs144598731 TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr14:74186066C>G ENST00000286523.5 - 12 3858 c.3076G>C c.(3076-3078)Gag>Cag p.E1026Q ELMSAN1_ENST00000394071.2_Missense_Mutation_p.E1026Q NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 CTGAATGTCTCTGTTTTTTTC 0.572000 13 26 0 0 1 0 0 STRIP1 85369 broad.mit.edu 37 1 110593664 110593664 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:110593664G>A ENST00000369795.3 + 19 2065 c.2043G>A c.(2041-2043)tgG>tgA p.W681* STRIP1_ENST00000369796.1_Nonsense_Mutation_p.W586* NM_033088.3 NP_149079.2 striatin interacting protein 1 TGACAAAGTGGAAGCATTCAA 0.498000 10 30 0 0 1 0 0 DLG3 1741 broad.mit.edu 37 X 69673486 69673486 + Splice_Site SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:69673486G>A ENST00000194900.4 + 9 1540 c.e9-1 DLG3-AS1_ENST00000424211.1_RNA|DLG3_ENST00000374360.3_Splice_Site|DLG3-AS1_ENST00000431103.1_RNA|DLG3_ENST00000374355.3_Splice_Site Q92796 DLG3_HUMAN discs, large homolog 3 (Drosophila) axon guidance|negative regulation of cell proliferation|synaptic transmission plasma membrane guanylate kinase activity endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1) 22 Renal(35;0.156) TTTCCCACCAGAGAGCCTCGC 0.527000 9 14 0 0 1 0 0 DNAJC11 55735 broad.mit.edu 37 1 6741080 6741080 + Silent SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:6741080C>A ENST00000377577.5 - 2 213 c.90G>T c.(88-90)ctG>ctT p.L30L DNAJC11_ENST00000542246.1_5'UTR|DNAJC11_ENST00000349363.6_5'UTR|DNAJC11_ENST00000294401.7_Silent_p.L30L|DNAJC11_ENST00000377573.5_5'UTR NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 30 J. protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) AGGCAGCTTTCAGCTCTTCAG 0.443000 28 51 1.68575e-08 1.73574e-08 1 1 0 ACTR1A 10121 broad.mit.edu 37 10 104241919 104241919 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:104241919C>T ENST00000369905.4 - 8 827 c.764G>A c.(763-765)cGa>cAa p.R255Q ACTR1A_ENST00000487599.1_Missense_Mutation_p.R255Q|ACTR1A_ENST00000470322.1_5'UTR|ACTR1A_ENST00000446605.2_Missense_Mutation_p.R208Q|ACTR1A_ENST00000545684.1_Missense_Mutation_p.R181Q NM_005736.3 NP_005727.1 P61163 ACTZ_HUMAN ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) 255 G2/M transition of mitotic cell cycle|vesicle-mediated transport centrosome|cytosol|dynactin complex ATP binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 13 Colorectal(252;0.122) Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222) GGCCCGGAATCGGGAAGGACC 0.582000 15 65 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33604915 33604915 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:33604915G>A ENST00000321505.4 + 10 3723 c.3543G>A c.(3541-3543)tgG>tgA p.W1181* KIAA1549L_ENST00000265654.5_Nonsense_Mutation_p.W1187*|KIAA1549L_ENST00000389726.3_Nonsense_Mutation_p.W1187* KIAA1549-like ATAACCTGTGGATCATCGCTG 0.547000 3 7 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153056624 153056624 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr5:153056624G>A ENST00000285900.5 + 7 1275 c.932G>A c.(931-933)aGa>aAa p.R311K GRIA1_ENST00000521843.2_Missense_Mutation_p.R242K|GRIA1_ENST00000518783.1_Missense_Mutation_p.R321K|GRIA1_ENST00000448073.4_Missense_Mutation_p.R321K|GRIA1_ENST00000518142.1_Missense_Mutation_p.R231K|GRIA1_ENST00000340592.5_Missense_Mutation_p.R311K NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 311 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CGGAGGCAGAGAATTGATATA 0.562000 18 11 0 0 1 0 0 CSPP1 79848 broad.mit.edu 37 8 68007756 68007756 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:68007756G>A ENST00000262210.5 + 6 770 c.739G>A c.(739-741)Gaa>Aaa p.E247K CSPP1_ENST00000412460.1_5'UTR NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 282 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) AGCAAATGAAGAAGTGGGCAT 0.368000 16 45 0 0 1 0 0 CDKN1A 1026 broad.mit.edu 37 6 36652021 36652021 + Missense_Mutation SNP G G C rs12721594 TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:36652021G>C ENST00000405375.1 + 2 378 c.143G>C c.(142-144)cGa>cCa p.R48P CDKN1A_ENST00000448526.2_Missense_Mutation_p.R82P|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Missense_Mutation_p.R48P|CDKN1A_ENST00000244741.5_Missense_Mutation_p.R48P NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 48 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 GCCCGTGAGCGATGGAACTTC 0.662000 9 20 0 0 1 0 0 KIAA0100 9703 broad.mit.edu 37 17 26969903 26969903 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:26969903C>G ENST00000528896.2 - 5 573 c.499G>C c.(499-501)Gat>Cat p.D167H KIAA0100_ENST00000544884.1_Missense_Mutation_p.D24H|KIAA0100_ENST00000389003.3_Missense_Mutation_p.D24H NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 167 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) CCATCACTATCCAAAAGAAAT 0.438000 20 45 0 0 1 0 0 SIN3B 23309 broad.mit.edu 37 19 16989123 16989123 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:16989123C>G ENST00000379803.1 + 19 3194 c.3180C>G c.(3178-3180)ctC>ctG p.L1060L SIN3B_ENST00000595541.1_Silent_p.L618L|SIN3B_ENST00000248054.5_Silent_p.L1028L|SIN3B_ENST00000594235.1_3'UTR NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 1060 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 GCTTCAAGCTCAGCACTCACA 0.677000 4 13 0 0 1 0 0 SLC47A1 55244 broad.mit.edu 37 17 19458572 19458572 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:19458572C>T ENST00000270570.4 + 7 677 c.591C>T c.(589-591)gtC>gtT p.V197V SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000436810.2_Silent_p.V174V|SLC47A1_ENST00000395585.1_Silent_p.V197V|SLC47A1_ENST00000457293.1_Silent_p.V197V|SLC47A1_ENST00000571335.1_Intron|SLC47A1_ENST00000542886.1_Intron|SLC47A1_ENST00000575023.1_Intron NM_018242.2 NP_060712.2 Q96FL8 S47A1_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 1 197 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) CCAACCTTGTCAATGCCCTCG 0.507000 64 84 0 0 1 0 0 C9orf66 157983 broad.mit.edu 37 9 215012 215012 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr9:215012C>T ENST00000382387.2 - 1 881 c.385G>A c.(385-387)Gaa>Aaa p.E129K DOCK8_ENST00000453981.1_Silent_p.F12F|DOCK8_ENST00000432829.2_5'UTR NM_152569.2 NP_689782.2 Q5T8R8 CI066_HUMAN chromosome 9 open reading frame 66 129 central_nervous_system(1)|cervix(1)|kidney(1)|skin(1) 4 all_lung(41;0.218) all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GCCGCGCGTTCGCGCTCAAGA 0.741000 4 10 0 0 1 0 0 ATF6B 1388 broad.mit.edu 37 6 32089082 32089082 + Silent SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:32089082G>C ENST00000375201.4 - 6 558 c.513C>G c.(511-513)gtC>gtG p.V171V ATF6B_ENST00000375203.3_Silent_p.V174V Q99941 ATF6B_HUMAN activating transcription factor 6 beta 174 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 CCTCAGAGTTGACGGAAGAAC 0.527000 5 12 0 0 1 0 0 NUGGC 389643 broad.mit.edu 37 8 27918005 27918005 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:27918005G>C ENST00000413272.2 - 8 1177 c.1035C>G c.(1033-1035)ttC>ttG p.F345L NUGGC_ENST00000341513.6_Missense_Mutation_p.F345L NM_001010906.1 NP_001010906.1 nuclear GTPase, germinal center associated CGTCCCTACAGAAGCCCCGCT 0.557000 OREG0018675 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 15 0 0 1 0 0 TNFAIP8L2 79626 broad.mit.edu 37 1 151131665 151131665 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:151131665C>T ENST00000368910.3 + 2 618 c.492C>T c.(490-492)ttC>ttT p.F164F NM_024575.4 NP_078851.2 Q6P589 TP8L2_HUMAN tumor necrosis factor, alpha-induced protein 8-like 2 164 innate immune response lung(1)|skin(2) 3 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GGCCTGACTTCACTCAGCACC 0.562000 10 51 0 0 1 0 0 XRCC4 7518 broad.mit.edu 37 5 82500738 82500738 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr5:82500738C>T ENST00000282268.3 + 6 918 c.743C>T c.(742-744)tCa>tTa p.S248L XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000511817.1_Missense_Mutation_p.S248L|XRCC4_ENST00000396027.4_Missense_Mutation_p.S248L|XRCC4_ENST00000338635.6_Missense_Mutation_p.S248L NM_003401.3|NM_022406.2|NM_022550.2 NP_003392.1|NP_071801.1|NP_072044.1 Q13426 XRCC4_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 4 248 DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm DNA binding|protein C-terminus binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3) 17 Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034) OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28) GGGTTGGCTTCAGGTAAGAGA 0.383000 Non-homologous end-joining 11 11 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6697466 6697466 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:6697466G>C ENST00000309577.6 - 23 3626 c.3463C>G c.(3463-3465)Cag>Gag p.Q1155E CHD4_ENST00000544040.1_Missense_Mutation_p.Q1148E|CHD4_ENST00000357008.2_Missense_Mutation_p.Q1155E|CHD4_ENST00000544484.1_Missense_Mutation_p.Q1152E Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1155 Helicase C-terminal. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CTGCTCACCTGAATGTCATTA 0.473000 25 67 0 0 1 0 0 CCDC40 55036 broad.mit.edu 37 17 78073383 78073383 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:78073383G>C ENST00000397545.4 + 20 3265 c.3238G>C c.(3238-3240)Gag>Cag p.E1080Q NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 1080 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) GGCTGTGAAGGAGGGGCGCTA 0.587000 17 46 0 0 1 0 0 C11orf57 55216 broad.mit.edu 37 11 111946328 111946328 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:111946328C>G ENST00000280352.9 + 2 666 c.30C>G c.(28-30)ctC>ctG p.L10L C11orf57_ENST00000530104.1_Silent_p.L10L|C11orf57_ENST00000532163.1_5'UTR|C11orf57_ENST00000420986.2_Silent_p.L10L|C11orf57_ENST00000393047.3_Silent_p.L10L NM_001082970.1|NM_018195.3 NP_001076439.1|NP_060665.3 Q6ZUT1 CK057_HUMAN chromosome 11 open reading frame 57 10 autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 12 all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521) GGAAGGTCCTCCTGAGGAATG 0.418000 7 11 0 0 1 0 0 ALYREF 10189 broad.mit.edu 37 17 79847195 79847195 + Missense_Mutation SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:79847195G>T ENST00000331204.4 - 3 406 c.380C>A c.(379-381)gCt>gAt p.A127D ALYREF_ENST00000512673.1_5'UTR|ALYREF_ENST00000505490.2_Missense_Mutation_p.A134D NM_005782.3 NP_005773.3 Q86V81 THOC4_HUMAN Aly/REF export factor 127 Ala/Arg/Gly-rich.|RRM. intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex nucleotide binding|protein binding|RNA binding TCCAAATTCAGCAAAGAGTTC 0.547000 9 76 3.09899e-07 3.17142e-07 1 1 0 SON 6651 broad.mit.edu 37 21 34932413 34932413 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr21:34932413C>G ENST00000300278.4 + 7 6917 c.6888C>G c.(6886-6888)ctC>ctG p.L2296L SON_ENST00000356577.4_Intron|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Intron NM_032195.1 NP_115571 P18583 SON_HUMAN SON DNA binding protein 0 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 CTTCAAGGCTCTATAGCTCTA 0.473000 18 91 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156641378 156641378 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:156641378G>C ENST00000368223.3 - 4 2734 c.2602C>G c.(2602-2604)Caa>Gaa p.Q868E NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 868 Tail. QGAMNPLEKEIQEPLESVEVNQETFRLLEEENQESLRSLGA WNLENLRSPEE -> KSGGNESSRKGNSRTTGVCGSEPRDI QTPGRGESGIIEISGSMEPGEFEISRG (in Ref. 1; CAA46780). brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGTGGTTCTTGAATTTCCTTT 0.453000 32 179 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5154277 5154277 + Missense_Mutation SNP G G A rs139614200 by1000genomes TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:5154277G>A ENST00000252321.3 + 1 1193 c.964G>A c.(964-966)Gac>Aac p.D322N NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 322 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 GACCCTGGCCGACCCCTTCTT 0.701000 16 36 0 0 1 0 0 CDA 978 broad.mit.edu 37 1 20945011 20945011 + Nonsense_Mutation SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:20945011G>T ENST00000375071.3 + 4 573 c.391G>T c.(391-393)Gag>Tag p.E131* CDA_ENST00000461985.1_3'UTR NM_001785.2 NP_001776.1 P32320 CDD_HUMAN cytidine deaminase 131 cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage cytosol|extracellular region cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 7 Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199) Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441) GACGGTCCAGGAGCTGCTGCC 0.552000 6 20 2.0095e-06 2.05022e-06 1 1 0 ITSN2 50618 broad.mit.edu 37 2 24521593 24521593 + Nonsense_Mutation SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:24521593C>A ENST00000355123.4 - 13 1878 c.1435G>T c.(1435-1437)Gaa>Taa p.E479* ITSN2_ENST00000406921.3_Nonsense_Mutation_p.E479*|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.E479* NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 479 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACAATTTCTTCTTGTTCTCTA 0.378000 41 77 5.20837e-25 5.56185e-25 1 1 0 OR4X2 119764 broad.mit.edu 37 11 48267115 48267115 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:48267115C>T ENST00000302329.3 + 1 508 c.460C>T c.(460-462)Ctc>Ttc p.L154F NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 ACAAATCCTTCTCATCTTCCA 0.498000 54 117 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168108151 168108151 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:168108151G>A ENST00000409195.1 + 9 10338 c.10249G>A c.(10249-10251)Gaa>Aaa p.E3417K XIRP2_ENST00000409273.1_Missense_Mutation_p.E3195K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E3417K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3242 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GTCTCTAAGTGAACATTTCTC 0.433000 32 60 0 0 1 0 0 DOCK7 85440 broad.mit.edu 37 1 62940941 62940941 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:62940941G>C ENST00000251157.5 - 46 6043 c.6010C>G c.(6010-6012)Ccc>Gcc p.P2004A DOCK7_ENST00000340370.5_Missense_Mutation_p.P1984A|DOCK7_ENST00000489185.1_5'UTR NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 2015 DHR-2. 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 GGGTCTGCGGGATCCTGATGT 0.443000 19 32 0 0 1 0 0 CALR 811 broad.mit.edu 37 19 13051099 13051099 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:13051099G>C ENST00000316448.5 + 5 608 c.535G>C c.(535-537)Gac>Cac p.D179H NM_004343.3 NP_004334.1 P27797 CALR_HUMAN calreticulin 179 N-domain. cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding kidney(1)|large_intestine(3)|lung(5)|ovary(1) 10 Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) TGTGCGGCCAGACAACACCTA 0.527000 49 24 0 0 1 0 0 CYLC2 1539 broad.mit.edu 37 9 105767646 105767646 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr9:105767646G>A ENST00000374798.3 + 5 803 c.733G>A c.(733-735)Gag>Aag p.E245K CYLC2_ENST00000487798.1_Missense_Mutation_p.E245K NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 245 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton p.E245*(2) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) AAAGAAGGATGAGGATGGAAA 0.368000 13 52 0 0 1 0 0 ID1 3397 broad.mit.edu 37 20 30193552 30193552 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr20:30193552G>C ENST00000376105.3 + 1 461 c.362G>C c.(361-363)cGa>cCa p.R121P ID1_ENST00000376112.3_Missense_Mutation_p.R121P NM_181353.2 NP_851998.1 P41134 ID1_HUMAN inhibitor of DNA binding 1, dominant negative helix-loop-helix protein 121 angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway cytoplasm protein binding endometrium(2)|ovary(1)|pancreas(1) 4 all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264) CCCGGGGGCCGAGGGCTGCCG 0.602000 8 6 0 0 1 0 0 CDH17 1015 broad.mit.edu 37 8 95189879 95189879 + Missense_Mutation SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:95189879C>A ENST00000027335.3 - 4 345 c.221G>T c.(220-222)cGg>cTg p.R74L CDH17_ENST00000441892.2_Missense_Mutation_p.R74L|CDH17_ENST00000450165.2_Missense_Mutation_p.R74L NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 74 Cadherin 1. integral to membrane calcium ion binding p.R74L(1) NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) AAGTCCCTCCCGTTCTATCAC 0.423000 14 38 4.36969e-10 4.53637e-10 1 1 0 KCNAB1 7881 broad.mit.edu 37 3 155838448 155838448 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:155838448G>A ENST00000490337.1 + 1 112 c.48G>A c.(46-48)gaG>gaA p.E16E KCNAB1_ENST00000389636.5_Silent_p.E16E NM_172160.2 NP_751892.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 16 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TCTCAGAGGAGAACACCAAGT 0.498000 47 105 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155219599 155219599 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr4:155219599G>A ENST00000357232.4 - 18 4501 c.4502C>T c.(4501-4503)tCa>tTa p.S1501L NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 Cadherin 13. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GTCCACAGCTGAAAGCACAAG 0.463000 15 70 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29102124 29102124 + RNA SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:29102124C>G ENST00000564580.1 + 0 715 GCATGAAATTCTGGAGCTTAT 0.259000 5 52 0 0 1 0 0 KIDINS220 57498 broad.mit.edu 37 2 8872079 8872079 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:8872079G>A ENST00000256707.3 - 30 4268 c.4087C>T c.(4087-4089)Ctc>Ttc p.L1363F KIDINS220_ENST00000418530.1_Missense_Mutation_p.L1264F|KIDINS220_ENST00000427284.1_Missense_Mutation_p.L1344F|KIDINS220_ENST00000473731.1_Missense_Mutation_p.L1344F NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 1363 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TGGGAATTGAGACTCGAAAGA 0.368000 37 64 0 0 1 0 0 SLC16A2 6567 broad.mit.edu 37 X 73641814 73641814 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:73641814C>G ENST00000276033.5 + 1 730 c.564C>G c.(562-564)atC>atG p.I188M SLC16A2_ENST00000587091.1_Missense_Mutation_p.I114M P36021 MOT8_HUMAN solute carrier family 16, member 2 (thyroid hormone transporter) 114 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 21 Pyruvic acid(DB00119) ACGGCTCCATCTTCGGCATCC 0.607000 6 16 0 0 1 0 0 AKNA 80709 broad.mit.edu 37 9 117119145 117119145 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr9:117119145G>C ENST00000307564.4 - 13 3005 c.2844C>G c.(2842-2844)atC>atG p.I948M AKNA_ENST00000374075.5_Missense_Mutation_p.I867M|AKNA_ENST00000223791.3_Missense_Mutation_p.I408M|AKNA_ENST00000374088.3_Missense_Mutation_p.I948M NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 948 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 CGGGATACCTGATGTGGGAGA 0.587000 44 50 0 0 1 0 0 PROSER2 254427 broad.mit.edu 37 10 11908560 11908560 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:11908560G>A ENST00000277570.5 + 3 323 c.169G>A c.(169-171)Gag>Aag p.E57K PROSER2_ENST00000474155.1_3'UTR|PROSER2-AS1_ENST00000453242.1_RNA|PROSER2-AS1_ENST00000445498.1_RNA NM_153256.3 NP_694988.3 proline and serine-rich protein 2 CCTCACCCATGAGGAAAAGGA 0.483000 61 114 0 0 1 0 0 ABLIM3 22885 broad.mit.edu 37 5 148632322 148632322 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr5:148632322C>G ENST00000506113.1 + 22 2342 c.1860C>G c.(1858-1860)atC>atG p.I620M ABLIM3_ENST00000508983.1_Missense_Mutation_p.I587M|ABLIM3_ENST00000504238.1_Missense_Mutation_p.I509M|ABLIM3_ENST00000517451.1_Missense_Mutation_p.I106M|ABLIM3_ENST00000356541.3_Missense_Mutation_p.I509M|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.I525M|ABLIM3_ENST00000309868.7_Missense_Mutation_p.I620M|RP11-331K21.1_ENST00000522685.1_RNA O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 620 HP. axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCTTAGATCTACCCTTATG 0.493000 27 36 0 0 1 0 0 RTP1 132112 broad.mit.edu 37 3 186915459 186915459 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:186915459G>C ENST00000312295.4 + 1 186 c.156G>C c.(154-156)gaG>gaC p.E52D RP11-208N14.4_ENST00000356133.3_RNA NM_153708.2 NP_714919.2 P59025 RTP1_HUMAN receptor (chemosensory) transporter protein 1 52 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2) 22 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) TCTTCTATGAGAAGATGGAGG 0.507000 22 53 0 0 1 0 0 HIRA 7290 broad.mit.edu 37 22 19347005 19347005 + Silent SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr22:19347005G>C ENST00000263208.5 - 18 2344 c.2088C>G c.(2086-2088)gtC>gtG p.V696V HIRA_ENST00000546308.1_Silent_p.V652V|HIRA_ENST00000340170.4_Intron|HIRA_ENST00000541063.1_Silent_p.V652V NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 696 Interaction with CCNA1.|Interaction with PAX3 (By similarity).|Interaction with histone H2B. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) GATCGGAGCTGACCTGGATGA 0.597000 5 10 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51776682 51776682 + Silent SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:51776682G>C ENST00000371117.3 - 39 6680 c.6405C>G c.(6403-6405)ctC>ctG p.L2135L PKHD1_ENST00000340994.4_Silent_p.L2135L NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2135 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TACTCCTGCTGAGCAGAGCCA 0.438000 19 64 0 0 1 0 0 OR5A1 219982 broad.mit.edu 37 11 59210975 59210975 + Missense_Mutation SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:59210975C>A ENST00000302030.2 + 1 359 c.334C>A c.(334-336)Ctg>Atg p.L112M NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 CGGCATGGGTCTGTCTGAGTG 0.527000 54 143 2.01807e-28 2.16191e-28 1 1 0 RORA 6095 broad.mit.edu 37 15 60970881 60970881 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:60970881G>C ENST00000335670.6 - 2 271 c.171C>G c.(169-171)atC>atG p.I57M RORA_ENST00000560004.1_5'UTR NM_134261.2 NP_599023.1 P35398 RORA_HUMAN RAR-related orphan receptor A 0 Modulating. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 21 TCGTTACTGAGATACCTGGAA 0.423000 8 35 0 0 1 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125686427 125686427 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:125686427C>G ENST00000371126.1 - 1 407 c.165G>C c.(163-165)ctG>ctC p.L55L NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 55 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 CCCGAACCTTCAGATAGTGCG 0.711000 25 55 0 0 1 0 0 CYSLTR2 57105 broad.mit.edu 37 13 49281647 49281647 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr13:49281647G>A ENST00000282018.3 + 1 697 c.694G>A c.(694-696)Gag>Aag p.E232K NM_020377.2 NP_065110.1 Q9NS75 CLTR2_HUMAN cysteinyl leukotriene receptor 2 232 immune response integral to membrane|plasma membrane endometrium(2)|large_intestine(4)|lung(12)|skin(2) 20 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) GTTAAAAGTGGAGGTCCCAGA 0.498000 16 63 0 0 1 0 0 A2M 2 broad.mit.edu 37 12 9266109 9266109 + Silent SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:9266109G>C ENST00000318602.7 - 2 424 c.117C>G c.(115-117)ctC>ctG p.L39L NM_000014.4 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin 39 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) TCTCAGTGTGGAGCAGGGAGG 0.507000 31 38 0 0 1 0 0 CRELD2 79174 broad.mit.edu 37 22 50319169 50319169 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr22:50319169G>A ENST00000404488.3 + 10 1255 c.1120G>A c.(1120-1122)Gaa>Aaa p.E374K CRELD2_ENST00000403427.3_Missense_Mutation_p.E297K|CRELD2_ENST00000328268.4_Missense_Mutation_p.E325K|CRELD2_ENST00000407217.3_Missense_Mutation_p.E293K NM_001135101.1 NP_001128573.1 Q6UXH1 CREL2_HUMAN cysteine-rich with EGF-like domains 2 325 endoplasmic reticulum|extracellular region calcium ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3) 9 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247) CGGCTTCGAAGAAACGGAAGA 0.587000 20 39 0 0 1 0 0 TBCD 6904 broad.mit.edu 37 17 80890567 80890567 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:80890567C>T ENST00000355528.4 + 34 3277 c.3147C>T c.(3145-3147)caC>caT p.H1049H TBCD_ENST00000539345.2_Silent_p.H1049H NM_005993.4 NP_005984.3 Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 1049 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) CGCTGGACCACGTGCTCACCC 0.567000 23 37 0 0 1 0 0 PUM2 23369 broad.mit.edu 37 2 20508191 20508191 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:20508191C>T ENST00000361078.2 - 5 695 c.673G>A c.(673-675)Gat>Aat p.D225N PUM2_ENST00000319801.5_Missense_Mutation_p.D225N|PUM2_ENST00000403432.1_Missense_Mutation_p.D225N|PUM2_ENST00000338086.5_Missense_Mutation_p.D225N|PUM2_ENST00000536417.1_Missense_Mutation_p.D169N|PUM2_ENST00000420234.1_5'UTR Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 225 Interaction with SNAPIN. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCATGGCATCCAGATTCTGA 0.433000 35 77 0 0 1 0 0 TATDN2 9797 broad.mit.edu 37 3 10312526 10312526 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:10312526G>C ENST00000287652.4 + 4 2711 c.1660G>C c.(1660-1662)Gag>Cag p.E554Q TATDN2_ENST00000448281.2_Missense_Mutation_p.E554Q|RP11-438J1.1_ENST00000450534.1_3'UTR NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 554 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 GCTGTTGAAAGAGGATCTGGT 0.493000 41 81 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81960775 81960775 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:81960775G>C ENST00000359376.3 + 23 2720 c.2506G>C c.(2506-2508)Gaa>Caa p.E836Q NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 836 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 CGAGGAGCTAGAAAAGCAGGT 0.502000 18 152 0 0 1 0 0 CEP85 64793 broad.mit.edu 37 1 26584196 26584196 + Nonsense_Mutation SNP A A T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:26584196A>T ENST00000252992.4 + 5 1143 c.1012A>T c.(1012-1014)Aag>Tag p.K338* CEP85_ENST00000451429.2_Nonsense_Mutation_p.K287* NM_001281517.1|NM_022778.2 NP_001268446.1|NP_073615.2 Q6P2H3 CEP85_HUMAN centrosomal protein 85kDa 338 centrosome|nucleolus|spindle pole breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2) 25 ACACCTTCTGAAGGAAAAAGA 0.507000 23 121 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119121138 119121138 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:119121138G>A ENST00000264245.4 + 10 2071 c.1539G>A c.(1537-1539)ccG>ccA p.P513P NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 513 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 GAACACCCCCGAAGGAGCTGC 0.582000 9 60 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75798870 75798870 + Nonsense_Mutation SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:75798870C>A ENST00000322507.8 - 64 9271 c.8962G>T c.(8962-8964)Gaa>Taa p.E2988* COL12A1_ENST00000483888.2_Nonsense_Mutation_p.E2984*|COL12A1_ENST00000345356.6_Nonsense_Mutation_p.E1824*|COL12A1_ENST00000416123.2_Nonsense_Mutation_p.E2912* NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2988 Triple-helical region (COL1) with 2 imperfections. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GTACCCCTTTCACCTTTCTCT 0.448000 5 15 0.0293803 0.0294975 1 1 0 PTPRB 5787 broad.mit.edu 37 12 70929906 70929906 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:70929906G>C ENST00000334414.6 - 29 6024 c.5980C>G c.(5980-5982)Cag>Gag p.Q1994E PTPRB_ENST00000550358.1_Missense_Mutation_p.Q1906E|PTPRB_ENST00000261266.5_Missense_Mutation_p.Q1776E|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000451516.2_Missense_Mutation_p.Q1686E|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000538708.1_Missense_Mutation_p.Q1686E|PTPRB_ENST00000550857.1_Missense_Mutation_p.Q1686E|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000551438.1_RNA NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1776 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGCGGTCCCTGAGTGACAATG 0.453000 8 26 0 0 1 0 0 HIST1H2BC 8347 broad.mit.edu 37 6 26123904 26123904 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:26123904C>T ENST00000314332.5 - 1 234 c.229G>A c.(229-231)Gag>Aag p.E77K HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.E77K P62807 H2B1C_HUMAN histone cluster 1, H2bc 77 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 16 CGGGAAGCCTCGCCCGCGATG 0.587000 42 102 0 0 1 0 0 CCDC27 148870 broad.mit.edu 37 1 3673349 3673349 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:3673349G>A ENST00000294600.2 + 4 690 c.606G>A c.(604-606)aaG>aaA p.K202K NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 202 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) ACTTGCGGAAGAGGAGAAAAT 0.557000 37 70 0 0 1 0 0 SEC62 7095 broad.mit.edu 37 3 169694737 169694737 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:169694737C>T ENST00000337002.4 + 3 207 c.149C>T c.(148-150)tCa>tTa p.S50L SEC62_ENST00000480708.1_Missense_Mutation_p.S50L NM_003262.3 NP_003253.1 Q99442 SEC62_HUMAN SEC62 homolog (S. cerevisiae) 50 cotranslational protein targeting to membrane|transmembrane transport aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum protein transporter activity|receptor activity NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 9 TCTTTAGCTTCAAAAGCAGTG 0.348000 11 19 0 0 1 0 0 C1QTNF5 114902 broad.mit.edu 37 11 119210397 119210397 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:119210397C>T ENST00000445041.2 - 15 3171 c.376G>A c.(376-378)Gac>Aac p.D126N C1QTNF5_ENST00000525657.1_5'UTR|MFRP_ENST00000555262.1_3'UTR|C1QTNF5_ENST00000528368.1_Missense_Mutation_p.D126N|MFRP_ENST00000530681.1_3'UTR NM_001278431.1|NM_015645.3|NM_031433.2 NP_001265360.1|NP_056460.1|NP_113621.1 Q9BY79 MFRP_HUMAN C1q and tumor necrosis factor related protein 5 0 embryo development integral to membrane endometrium(1)|lung(2) 3 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) AGCACGCGGTCGAAGGGCAAG 0.687000 11 5 0 0 1 0 0 SRPRB 58477 broad.mit.edu 37 3 133525492 133525492 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:133525492G>C ENST00000466490.2 + 3 479 c.194G>C c.(193-195)aGa>aCa p.R65T NM_021203.3 NP_067026.3 Q9Y5M8 SRPRB_HUMAN signal recognition particle receptor, B subunit 65 endoplasmic reticulum membrane|integral to membrane GTP binding|protein binding|receptor activity breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2) 12 AGCAGTCAGAGAGCTGTTCTT 0.408000 25 63 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134034817 134034817 + Silent SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr9:134034817G>C ENST00000359428.5 + 18 2628 c.2484G>C c.(2482-2484)gtG>gtC p.V828V RP11-544A12.4_ENST00000587408.1_RNA|NUP214_ENST00000411637.2_Silent_p.V818V|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000589128.1_RNA|RP11-544A12.4_ENST00000417798.2_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000451030.1_Silent_p.V829V|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA P35658 NU214_HUMAN nucleoporin 214kDa 828 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TCCAAGATGTGAATGATGTTC 0.368000 T """DEK, SET, ABL1""" """AML, T-ALL""" 12 33 0 0 1 0 0 HIST1H2AE 3012 broad.mit.edu 37 6 26217476 26217476 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:26217476G>A ENST00000303910.2 + 1 312 c.274G>A c.(274-276)Gag>Aag p.E92K NM_021052.2 NP_066390.1 P04908 H2A1B_HUMAN histone cluster 1, H2ae 92 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2) 10 all_hematologic(11;0.196) CCGCAACGACGAGGAGCTAAA 0.597000 22 70 0 0 1 0 0 IP6K2 51447 broad.mit.edu 37 3 48732441 48732441 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:48732441G>A ENST00000431721.2 - 3 686 c.449C>T c.(448-450)tCc>tTc p.S150F IP6K2_ENST00000450045.1_Intron|IP6K2_ENST00000453202.1_Missense_Mutation_p.S95F|IP6K2_ENST00000328631.5_Intron|IP6K2_ENST00000340879.4_Intron|IP6K2_ENST00000443964.1_Missense_Mutation_p.S154F|IP6K2_ENST00000449610.1_Missense_Mutation_p.S95F|IP6K2_ENST00000436134.1_Intron|IP6K2_ENST00000413298.1_Intron|IP6K2_ENST00000432678.2_Intron|IP6K2_ENST00000446860.1_Missense_Mutation_p.S153F|IP6K2_ENST00000417896.1_Missense_Mutation_p.S95F NM_001190316.1 NP_001177245.1 Q9UHH9 IP6K2_HUMAN inositol hexakisphosphate kinase 2 0 negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway intermediate filament cytoskeleton|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 15 GGGCTCCAGGGATGGCTGCCA 0.597000 10 24 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152369279 152369279 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:152369279G>C ENST00000427231.2 - 161 23516 c.23314C>G c.(23314-23316)Cat>Gat p.H7772D NEB_ENST00000172853.10_Missense_Mutation_p.H6071D|NEB_ENST00000603639.1_Missense_Mutation_p.H7772D|NEB_ENST00000397345.3_Missense_Mutation_p.H7772D|NEB_ENST00000604864.1_Missense_Mutation_p.H7772D|NEB_ENST00000409198.1_Missense_Mutation_p.H6071D NM_001164507.1|NM_001271208.1 NP_001157979|NP_001258137.1 P20929 NEBU_HUMAN nebulin 6071 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TGTTGGGCATGAATGATCTCT 0.393000 4 18 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 36242531 36242531 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr13:36242531G>A ENST00000540320.1 + 57 9159 c.8625G>A c.(8623-8625)caG>caA p.Q2875Q NBEA_ENST00000537702.1_Silent_p.Q668Q|NBEA_ENST00000379922.3_Silent_p.Q453Q|NBEA_ENST00000400445.3_Silent_p.Q2875Q|NBEA_ENST00000379939.2_Silent_p.Q2872Q|NBEA_ENST00000310336.4_Silent_p.Q2875Q Q8NFP9 NBEA_HUMAN neurobeachin 2875 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GTGACGGCCAGAACCTGGTCA 0.433000 8 9 0 0 1 0 0 ZNF77 58492 broad.mit.edu 37 19 2939325 2939325 + Silent SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:2939325G>C ENST00000314531.4 - 2 176 c.84C>G c.(82-84)ctC>ctG p.L28L NM_021217.2 NP_067040.1 Q15935 ZNF77_HUMAN zinc finger protein 77 28 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1) 17 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) CATCTCTGTAGAGGCTCCTCT 0.537000 27 27 0 0 1 0 0 DTX3L 151636 broad.mit.edu 37 3 122287833 122287833 + Missense_Mutation SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:122287833G>T ENST00000296161.4 + 3 1086 c.897G>T c.(895-897)caG>caT p.Q299H DTX3L_ENST00000383661.3_Intron NM_138287.3 NP_612144.1 Q8TDB6 DTX3L_HUMAN deltex 3-like (Drosophila) 299 histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0459) GTGAATTTCAGAAGAACACAG 0.413000 17 47 3.41278e-10 3.55395e-10 1 1 0 PPP2R5C 5527 broad.mit.edu 37 14 102349793 102349793 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr14:102349793G>C ENST00000422945.2 + 7 712 c.616G>C c.(616-618)Gat>Cat p.D206H PPP2R5C_ENST00000445439.3_Missense_Mutation_p.D175H|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.D175H|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.D230H|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.D175H|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.D175H NM_001161725.1 NP_001155197.1 Q13362 2A5G_HUMAN protein phosphatase 2, regulatory subunit B', gamma 175 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction chromosome, centromeric region|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity p.D175Y(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 TGACAGTGAAGATCCTCGGGA 0.388000 57 73 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11806137 11806137 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:11806137G>A ENST00000262442.4 + 60 11576 c.11508G>A c.(11506-11508)gaG>gaA p.E3836E DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Silent_p.E148E|DNAH9_ENST00000454412.2_Silent_p.E3836E NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTGAGAAAGAGAAGCTCCCAC 0.507000 26 32 0 0 1 0 0 ZBTB24 9841 broad.mit.edu 37 6 109802545 109802545 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:109802545C>T ENST00000230122.3 - 2 852 c.685G>A c.(685-687)Gag>Aag p.E229K NM_001164313.1|NM_014797.2 NP_001157785.1|NP_055612.2 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 229 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 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;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) GGCATTTCCTCCTCTCTACTT 0.463000 35 113 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71364669 71364669 + Nonsense_Mutation SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:71364669C>A ENST00000392650.3 - 37 5044 c.5044G>T c.(5044-5046)Gag>Tag p.E1682* SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Nonsense_Mutation_p.E1663* NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1682 Fibronectin type-III 11. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 ACGCTGTTCTCAGCCAGGAAA 0.597000 8 8 1.12685e-05 1.14274e-05 1 1 0 CUBN 8029 broad.mit.edu 37 10 17113560 17113560 + Silent SNP A A G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:17113560A>G ENST00000377833.4 - 19 2555 c.2490T>C c.(2488-2490)ccT>ccC p.P830P NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 830 CUB 4. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TAGGAAAAAAAGGCGAGCGAA 0.413000 3 61 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178540947 178540947 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr5:178540947G>A ENST00000251582.7 - 22 3658 c.3557C>T c.(3556-3558)cCc>cTc p.P1186L NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 1186 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CTTTTCATAGGGGCTCGGTCG 0.468000 40 33 0 0 1 0 0 CCR6 1235 broad.mit.edu 37 6 167550180 167550180 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:167550180C>G ENST00000341935.5 + 3 1014 c.462C>G c.(460-462)ttC>ttG p.F154L CCR6_ENST00000400926.2_Missense_Mutation_p.F154L|RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000349984.4_Missense_Mutation_p.F154L NM_031409.3 NP_113597.2 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 154 cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 14 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) CTAAGTCATTCCGGCTCCGAT 0.493000 16 36 0 0 1 0 0 EXOSC8 11340 broad.mit.edu 37 13 37582296 37582296 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr13:37582296C>T ENST00000389704.3 + 9 855 c.590C>T c.(589-591)tCc>tTc p.S197F NM_181503.2 NP_852480.1 Q96B26 EXOS8_HUMAN exosome component 8 197 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus AU-rich element binding|identical protein binding biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1) 7 Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411) GTTGCAACTTCCTTTGCTGTG 0.294000 32 81 0 0 1 0 0 C8orf31 286122 broad.mit.edu 37 8 144130655 144130655 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:144130655C>T ENST00000395172.1 + 5 737 c.385C>T c.(385-387)Ctc>Ttc p.L129F C8orf31_ENST00000517653.1_3'UTR NM_173687.2 NP_775958.1 Q8N9H6 CH031_HUMAN chromosome 8 open reading frame 31 129 breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1) 10 all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) gaaccaccttctctactctca 0.478000 25 39 0 0 1 0 0 BCAP29 55973 broad.mit.edu 37 7 107234409 107234409 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:107234409G>C ENST00000379119.2 + 3 217 c.203G>C c.(202-204)aGa>aCa p.R68T BCAP29_ENST00000379117.2_Missense_Mutation_p.R68T|BCAP29_ENST00000465919.1_5'UTR|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000445771.2_Missense_Mutation_p.R68T|BCAP29_ENST00000005259.4_Missense_Mutation_p.R68T NM_001008405.2 NP_001008405.1 Q9UHQ4 BAP29_HUMAN B-cell receptor-associated protein 29 68 apoptosis|intracellular protein transport|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 14 GATGCTGTGAGAGAAGTAAGG 0.363000 17 32 0 0 1 0 0 SLC25A14 9016 broad.mit.edu 37 X 129499587 129499587 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:129499587G>A ENST00000218197.5 + 8 1019 c.792G>A c.(790-792)atG>atA p.M264I SLC25A14_ENST00000361980.5_Missense_Mutation_p.M261I|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000543953.1_3'UTR|SLC25A14_ENST00000339231.3_Missense_Mutation_p.M292I NM_001282195.1|NM_001282196.1|NM_001282198.1 NP_001269124.1|NP_001269125.1|NP_001269127.1 O95258 UCP5_HUMAN solute carrier family 25 (mitochondrial carrier, brain), member 14 264 aerobic respiration|mitochondrial transport integral to plasma membrane|mitochondrial inner membrane binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1) 22 CTCGCATGATGAACCAGAGGG 0.453000 39 115 0 0 1 0 0 HIST1H3F 8968 broad.mit.edu 37 6 26250661 26250661 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:26250661G>C ENST00000446824.2 - 1 174 c.173C>G c.(172-174)tCg>tGg p.S58W NM_021018.2 NP_066298.1 P68431 H31_HUMAN histone cluster 1, H3f 58 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding lung(6)|urinary_tract(1) 7 TAGCTCAGTCGATTTCTGATA 0.607000 OREG0017241 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 48 97 0 0 1 0 0 PELI1 57162 broad.mit.edu 37 2 64321919 64321919 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:64321919G>A ENST00000358912.4 - 7 1616 c.1174C>T c.(1174-1176)Cat>Tat p.H392Y NM_020651.3 NP_065702.2 Q96FA3 PELI1_HUMAN pellino E3 ubiquitin protein ligase 1 392 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 19 CAGGCTGCATGAAAAGTATGA 0.478000 26 56 0 0 1 0 0 RTN1 6252 broad.mit.edu 37 14 60194249 60194249 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr14:60194249C>T ENST00000267484.5 - 3 1488 c.1153G>A c.(1153-1155)Gag>Aag p.E385K NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 385 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) GCCTTGACCTCGGGCCTGTCG 0.652000 4 12 0 0 1 0 0 RELB 5971 broad.mit.edu 37 19 45540670 45540670 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:45540670C>T ENST00000221452.8 + 12 1512 c.1362C>T c.(1360-1362)ttC>ttT p.F454F RELB_ENST00000540120.1_Silent_p.F454F|RELB_ENST00000505236.1_Silent_p.F451F NM_006509.3 NP_006500.2 Q01201 RELB_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog B 454 nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1) 12 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00986) TAGGCCCGTTCCTCCCGCCGT 0.592000 68 53 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17113832 17113832 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:17113832G>A ENST00000377833.4 - 18 2505 c.2440C>T c.(2440-2442)Caa>Taa p.Q814* NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 814 CUB 3. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTACCGACTTGATAAACAGCT 0.299000 38 96 0 0 1 0 0 LY9 4063 broad.mit.edu 37 1 160765992 160765992 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:160765992G>C ENST00000368037.5 + 1 129 c.15G>C c.(13-15)aaG>aaC p.K5N LY9_ENST00000341032.4_Missense_Mutation_p.K5N|LY9_ENST00000368039.2_Missense_Mutation_p.K5N|LY9_ENST00000392203.4_Missense_Mutation_p.K5N|LY9_ENST00000368041.2_5'UTR|LY9_ENST00000263285.6_Missense_Mutation_p.K5N|LY9_ENST00000368040.1_5'UTR NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TGGCACCAAAGAGTCACACAG 0.488000 18 109 0 0 1 0 0 MIOS 54468 broad.mit.edu 37 7 7625410 7625410 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:7625410G>A ENST00000340080.4 + 7 2213 c.1792G>A c.(1792-1794)Gaa>Aaa p.E598K MIOS_ENST00000405785.1_Missense_Mutation_p.E598K NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 598 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TCTGACAAGTGAAACAGGATC 0.343000 31 73 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42635352 42635352 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr20:42635352C>G ENST00000358131.5 + 3 566 c.358C>G c.(358-360)Cag>Gag p.Q120E TOX2_ENST00000372999.1_Missense_Mutation_p.Q69E|TOX2_ENST00000341197.4_Missense_Mutation_p.Q111E|TOX2_ENST00000423191.2_Missense_Mutation_p.Q69E NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 120 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.Q69*(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) CTACTCCTATCAGGCCATGGA 0.652000 12 38 0 0 1 0 0 POLR2M 81488 broad.mit.edu 37 15 58000997 58000997 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:58000997G>C ENST00000299638.3 + 2 413 c.199G>C c.(199-201)Gaa>Caa p.E67Q GCOM1_ENST00000380569.2_Intron|POLR2M_ENST00000380563.2_Missense_Mutation_p.E67Q|GCOM1_ENST00000587652.1_Missense_Mutation_p.E464Q|GCOM1_ENST00000380568.3_Intron|POLR2M_ENST00000464308.1_3'UTR|POLR2M_ENST00000380557.4_Intron|GCOM1_ENST00000484300.1_Intron NM_015532.3 NP_056347.1 polymerase (RNA) II (DNA directed) polypeptide M AGAATGTGAAGAAGTTAGAAG 0.373000 15 55 0 0 1 0 0 CUL5 8065 broad.mit.edu 37 11 107917093 107917093 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:107917093G>A ENST00000393094.2 + 3 847 c.231G>A c.(229-231)caG>caA p.Q77Q NM_003478.3 NP_003469.2 Q93034 CUL5_HUMAN cullin 5 77 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) AGCAAGCACAGGCAGTAAGTT 0.318000 13 35 0 0 1 0 0 DISP2 85455 broad.mit.edu 37 15 40655992 40655992 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:40655992C>T ENST00000267889.3 + 2 373 c.286C>T c.(286-288)Ccc>Tcc p.P96S NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 96 P -> T (in Ref. 1; BAB21833). smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) CTTCACCTATCCCCGGGCACT 0.657000 12 47 0 0 1 0 0 ITGA6 3655 broad.mit.edu 37 2 173337537 173337537 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:173337537C>T ENST00000375221.2 + 6 1014 c.811C>T c.(811-813)Cct>Tct p.P271S ITGA6_ENST00000264106.6_Missense_Mutation_p.P271S|ITGA6_ENST00000409532.1_Missense_Mutation_p.P113S|ITGA6_ENST00000343713.4_Missense_Mutation_p.P227S|ITGA6_ENST00000264107.7_Intron|ITGA6_ENST00000409080.1_Intron P23229 ITA6_HUMAN integrin, alpha 6 271 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) CTATACAGATCCTGATCAGTT 0.478000 27 49 0 0 1 0 0 GPC6 10082 broad.mit.edu 37 13 94482494 94482494 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr13:94482494C>T ENST00000377047.4 + 3 1022 c.407C>T c.(406-408)tCa>tTa p.S136L GPC6-AS2_ENST00000445540.1_RNA NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 136 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) ATGCAGAATTCAGAAGTCTTC 0.448000 13 65 0 0 1 0 0 KCNK16 83795 broad.mit.edu 37 6 39285594 39285594 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:39285594C>G ENST00000425054.2 - 3 462 c.463G>C c.(463-465)Gaa>Caa p.E155Q KCNK16_ENST00000507712.1_Missense_Mutation_p.E90Q|KCNK16_ENST00000373227.4_Missense_Mutation_p.E155Q|KCNK16_ENST00000373229.5_Missense_Mutation_p.E155Q|KCNK16_ENST00000437525.2_Missense_Mutation_p.E155Q NM_001135105.1 NP_001128577.1 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 155 integral to membrane potassium channel activity|voltage-gated ion channel activity large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2) 13 TCCCATCTTTCAATGGCGGCC 0.587000 5 7 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9540151 9540151 + Splice_Site SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:9540151G>C ENST00000281419.3 + 25 3024 c.e25-1 ASAP2_ENST00000491413.1_Splice_Site|ASAP2_ENST00000315273.4_Splice_Site NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 TGTCTTTGTAGGGCTGACAAG 0.493000 19 23 0 0 1 0 0 SYNGR1 9145 broad.mit.edu 37 22 39770461 39770461 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr22:39770461C>T ENST00000328933.5 + 2 255 c.240C>T c.(238-240)ctC>ctT p.L80L SYNGR1_ENST00000318801.4_Silent_p.L80L|SYNGR1_ENST00000381535.4_Silent_p.L81L|SYNGR1_ENST00000216155.7_Silent_p.L80L|SYNGR1_ENST00000406293.3_Silent_p.L80L NM_004711.4 NP_004702.2 synaptogyrin 1 endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 7 Melanoma(58;0.04) TCGCCTTCCTCACCTGCCTGC 0.637000 21 43 0 0 1 0 0 SPATA8 145946 broad.mit.edu 37 15 97327388 97327388 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:97327388C>T ENST00000328504.3 + 2 362 c.95C>T c.(94-96)tCg>tTg p.S32L SPATA8_ENST00000558553.1_5'UTR NM_173499.3 NP_775770.1 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 32 large_intestine(4)|lung(8)|ovary(1)|skin(3) 16 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) TGCAGAACCTCGTCGCGACAT 0.567000 17 32 0 0 1 0 0 EPB41L4B 54566 broad.mit.edu 37 9 111979333 111979333 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr9:111979333G>A ENST00000374566.3 - 16 2019 c.1502C>T c.(1501-1503)tCa>tTa p.S501L NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 501 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 atgcCTTCCTGAAGCTGCGGT 0.592000 30 28 0 0 1 0 0 KCNA2 3737 broad.mit.edu 37 1 111147039 111147039 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:111147039C>G ENST00000485317.1 - 3 1039 c.366G>C c.(364-366)gcG>gcC p.A122A KCNA2_ENST00000440270.1_Silent_p.A122A|KCNA2_ENST00000369770.3_Silent_p.A122A|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Silent_p.A122A P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 2 122 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) ACATCTCCATCGCTTCTTCTC 0.468000 6 42 0 0 1 0 0 CLUL1 27098 broad.mit.edu 37 18 627096 627096 + Splice_Site SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr18:627096G>T ENST00000581619.1 + 5 1345 c.e5-1 CLUL1_ENST00000540035.1_Splice_Site|CLUL1_ENST00000580436.1_Splice_Site|CLUL1_ENST00000400606.2_Splice_Site|CLUL1_ENST00000338387.7_Splice_Site|CLUL1_ENST00000579494.1_Splice_Site Q15846 CLUL1_HUMAN clusterin-like 1 (retinal) cell death extracellular region NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1) 24 CTACTCCACAGATTGAACGGT 0.338000 14 41 7.93312e-07 8.10208e-07 1 1 0 RPA4 29935 broad.mit.edu 37 X 96139571 96139571 + Missense_Mutation SNP A A T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:96139571A>T ENST00000373040.3 + 1 665 c.262A>T c.(262-264)Aat>Tat p.N88Y DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000355827.4_Intron NM_013347.4 NP_037479.1 Q13156 RFA4_HUMAN replication protein A4, 30kDa 88 DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair DNA replication factor A complex|nucleoplasm single-stranded DNA binding endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1) 13 GAAGGCTTCAAATCACATTTG 0.468000 Other identified genes with known or suspected DNA repair function 13 29 0 0 1 0 0 EYA4 2070 broad.mit.edu 37 6 133802665 133802665 + Silent SNP G G A rs140170914 byFrequency TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:133802665G>A ENST00000367895.5 + 12 1499 c.1035G>A c.(1033-1035)agG>agA p.R345R EYA4_ENST00000431403.2_Silent_p.R345R|EYA4_ENST00000531901.1_Silent_p.R351R|EYA4_ENST00000430974.2_Silent_p.R297R|EYA4_ENST00000452339.2_Silent_p.R291R|EYA4_ENST00000525849.1_Silent_p.R322R|EYA4_ENST00000355167.3_Silent_p.R345R|EYA4_ENST00000355286.6_Silent_p.R322R NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 345 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) GAACCTGTAGGAGTTCTGGGT 0.458000 26 65 0 0 1 0 0 DAK 26007 broad.mit.edu 37 11 61110063 61110063 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:61110063G>A ENST00000394900.3 + 9 937 c.708G>A c.(706-708)gaG>gaA p.E236E NM_015533.3 NP_056348.2 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 homolog (S. cerevisiae) 236 DhaK. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 23 CCGCCGATGAGATTGTGAAAC 0.617000 30 50 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33954408 33954408 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:33954408C>T ENST00000389232.4 + 35 4747 c.4677C>T c.(4675-4677)taC>taT p.Y1559Y RYR3_ENST00000415757.3_Silent_p.Y1559Y NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1559 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGTTCCATTACCACACGCTGA 0.617000 6 8 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91131800 91131800 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:91131800C>T ENST00000373094.1 + 2 1406 c.561C>T c.(559-561)ctC>ctT p.L187L PCDH11X_ENST00000395337.2_Silent_p.L187L|PCDH11X_ENST00000406881.1_Silent_p.L187L|PCDH11X_ENST00000373088.1_Silent_p.L187L|PCDH11X_ENST00000504220.2_Silent_p.L187L|PCDH11X_ENST00000361655.2_Silent_p.L187L|PCDH11X_ENST00000298274.8_Silent_p.L187L|PCDH11X_ENST00000373097.1_Silent_p.L187L|PCDH11X_ENST00000361724.1_Silent_p.L187L NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 187 Cadherin 2. homophilic cell adhesion integral to plasma membrane calcium ion binding p.L187L(3) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 TTTTTGGCCTCGATGTCATTG 0.303000 12 51 0 0 1 0 0 ZNF317 57693 broad.mit.edu 37 19 9271555 9271555 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:9271555C>G ENST00000247956.6 + 7 1539 c.1234C>G c.(1234-1236)Cac>Gac p.H412D ZNF317_ENST00000360385.3_Missense_Mutation_p.H380D NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 412 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 CATGAGGATTCACATCGTCAA 0.493000 3 42 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126372607 126372607 + Nonsense_Mutation SNP C C A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr4:126372607C>A ENST00000394329.3 + 9 10449 c.10436C>A c.(10435-10437)tCa>tAa p.S3479* FAT4_ENST00000335110.5_Nonsense_Mutation_p.S1777* NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3479 Cadherin 33. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TATAATCTCTCAGTTTTGGCT 0.453000 36 57 5.44703e-19 5.79214e-19 1 1 0 REV3L 5980 broad.mit.edu 37 6 111694276 111694276 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:111694276G>C ENST00000435970.1 - 15 5864 c.5048C>G c.(5047-5049)tCt>tGt p.S1683C REV3L_ENST00000368805.1_Missense_Mutation_p.S1761C|REV3L_ENST00000358835.3_Missense_Mutation_p.S1761C|REV3L_ENST00000368802.3_Missense_Mutation_p.S1761C O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1761 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) AACACAGAAAGAATCCATTAT 0.403000 DNA polymerases (catalytic subunits) 37 105 0 0 1 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58190191 58190191 + Missense_Mutation SNP A A T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:58190191A>T ENST00000318203.5 + 5 1917 c.1220A>T c.(1219-1221)cAg>cTg p.Q407L NM_152677.2 NP_689890.1 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 407 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGCTACCGCCAGTCATCCACA 0.473000 97 44 0 0 1 0 0 PUSL1 126789 broad.mit.edu 37 1 1246357 1246357 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:1246357G>A ENST00000379031.5 + 7 845 c.768G>A c.(766-768)acG>acA p.T256T PUSL1_ENST00000470520.1_3'UTR NM_153339.1 NP_699170.1 Q8N0Z8 PUSL1_HUMAN pseudouridylate synthase-like 1 256 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding lung(3)|skin(1)|urinary_tract(1) 5 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AGGTGAAGACGATTCTGGAGA 0.622000 35 58 0 0 1 0 0 FOXO3 2309 broad.mit.edu 37 6 108985225 108985225 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:108985225C>T ENST00000406360.1 + 2 1532 c.1189C>T c.(1189-1191)Ccg>Tcg p.P397S FOXO3_ENST00000540898.1_Missense_Mutation_p.P177S|FOXO3_ENST00000343882.6_Missense_Mutation_p.P397S NM_001455.3 NP_001446.1 O43524 FOXO3_HUMAN forkhead box O3 397 antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) CATCACGCTCCCGCCATCCCA 0.597000 9 24 0 0 1 0 0 ACSM2A 123876 broad.mit.edu 37 16 20489937 20489937 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:20489937G>A ENST00000573854.1 + 10 1333 c.1219G>A c.(1219-1221)Gaa>Aaa p.E407K ACSM2A_ENST00000417235.2_Missense_Mutation_p.E328K|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Missense_Mutation_p.E407K|ACSM2A_ENST00000219054.6_Missense_Mutation_p.E407K|ACSM2A_ENST00000536134.1_Missense_Mutation_p.E179K|ACSM2A_ENST00000575690.1_Missense_Mutation_p.E407K NM_001010845.2 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 407 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 CCCCGGCACAGAAGGAGACAT 0.517000 21 46 0 0 1 0 0 MITF 4286 broad.mit.edu 37 3 69998236 69998236 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:69998236G>A ENST00000352241.4 + 6 960 c.797G>A c.(796-798)gGa>gAa p.G266E MITF_ENST00000394351.3_Missense_Mutation_p.G159E|MITF_ENST00000314589.5_Missense_Mutation_p.G250E|MITF_ENST00000531774.1_Missense_Mutation_p.G103E|MITF_ENST00000314557.6_Missense_Mutation_p.G159E|MITF_ENST00000448226.2_Missense_Mutation_p.G266E|MITF_ENST00000328528.6_Missense_Mutation_p.G265E|MITF_ENST00000472437.1_Missense_Mutation_p.G214E|MITF_ENST00000394355.2_Missense_Mutation_p.G241E NM_198159.2 NP_937802.1 O75030 MITF_HUMAN microphthalmia-associated transcription factor 266 Transactivation. melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2) 30 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) GATCTTTATGGAAACCAAGGT 0.433000 A melanoma """Waardenburg syndrome type 2, Tietz syndrome""" 22 72 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 441372 441372 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr9:441372C>G ENST00000432829.2 + 41 5422 c.5106C>G c.(5104-5106)ctC>ctG p.L1702L DOCK8_ENST00000453981.1_Silent_p.L1770L|DOCK8_ENST00000469391.1_Silent_p.L1670L|DOCK8_ENST00000382329.1_Silent_p.L1237L NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1770 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) AGCTGACACTCACTCACAGCA 0.547000 52 24 0 0 1 0 0 HNRNPA1 3178 broad.mit.edu 37 12 54676013 54676013 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:54676013G>A ENST00000546500.1 + 4 1034 c.419G>A c.(418-420)cGa>cAa p.R140Q RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.R140Q|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.R140Q|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.R140Q P09651 ROA1_HUMAN heterogeneous nuclear ribonucleoprotein A1 140 Globular B domain.|RRM 2. R -> P (in Ref. 8; CAA27874). interspecies interaction between organisms|mRNA transport|nuclear import catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|single-stranded DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 20 ATGACTGACCGAGGCAGTGGC 0.388000 12 31 0 0 1 0 0 ZNF572 137209 broad.mit.edu 37 8 125989952 125989952 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:125989952C>G ENST00000319286.5 + 3 1596 c.1442C>G c.(1441-1443)gCc>gGc p.A481G NM_152412.2 NP_689625.2 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 481 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A481G(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 31 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) AGCAGAAGTGCCTACCTCAGT 0.468000 HNSCC(60;0.17) 25 137 0 0 1 0 0 SLC2A10 81031 broad.mit.edu 37 20 45355600 45355600 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr20:45355600C>T ENST00000359271.2 + 3 1636 c.1386C>T c.(1384-1386)atC>atT p.I462I NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 462 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) ACCTCTTCATCAGCCTCTCCT 0.507000 63 60 0 0 1 0 0 PELI1 57162 broad.mit.edu 37 2 64321928 64321928 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:64321928G>A ENST00000358912.4 - 7 1607 c.1165C>T c.(1165-1167)Cat>Tat p.H389Y NM_020651.3 NP_065702.2 Q96FA3 PELI1_HUMAN pellino E3 ubiquitin protein ligase 1 389 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 19 TGAAAAGTATGAGTACCATGA 0.498000 29 50 0 0 1 0 0 SCARA3 51435 broad.mit.edu 37 8 27509101 27509101 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:27509101C>T ENST00000301904.3 + 3 203 c.183C>T c.(181-183)ttC>ttT p.F61F SCARA3_ENST00000337221.4_Silent_p.F61F NM_016240.2 NP_057324.2 Q6AZY7 SCAR3_HUMAN scavenger receptor class A, member 3 61 response to oxidative stress|UV protection collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane scavenger receptor activity breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 9 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148) TTTACCTCTTCCTGGCCCTGC 0.647000 32 55 0 0 1 0 0 EEF1A2 1917 broad.mit.edu 37 20 62129093 62129093 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr20:62129093G>C ENST00000217182.3 - 2 189 c.24C>G c.(22-24)atC>atG p.I8M EEF1A2_ENST00000298049.7_Missense_Mutation_p.I8M NM_001958.3 NP_001949.1 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 2 8 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) CCACGATGTTGATGTGGGTCT 0.592000 16 101 0 0 1 0 0 CNTN2 6900 broad.mit.edu 37 1 205028799 205028799 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:205028799C>T ENST00000331830.4 + 7 1070 c.786C>T c.(784-786)ttC>ttT p.F262F NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 262 Ig-like C2-type 3. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TGGAGTGCTTCGCCTTTGGGA 0.627000 38 58 0 0 1 0 0 OR14I1 401994 broad.mit.edu 37 1 248844843 248844843 + Missense_Mutation SNP A A G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:248844843A>G ENST00000342623.3 - 1 786 c.763T>C c.(763-765)Ttt>Ctt p.F255L NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 AAGGCAGCAAAGAGCCCTGTG 0.483000 34 63 0 0 1 0 0 B3GNT1 11041 broad.mit.edu 37 11 66114984 66114984 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:66114984G>C ENST00000311181.4 - 1 179 c.33C>G c.(31-33)ttC>ttG p.F11L NM_006876.2 NP_006867.1 O43505 B3GN1_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 11 poly-N-acetyllactosamine biosynthetic process integral to Golgi membrane N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1) 12 GCAGCTGGTAGAAGGCGCACC 0.677000 6 7 0 0 1 0 0 GLRB 2743 broad.mit.edu 37 4 158065100 158065100 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr4:158065100G>A ENST00000264428.4 + 8 1163 c.893G>A c.(892-894)aGa>aAa p.R298K GLRB_ENST00000509282.1_Missense_Mutation_p.R298K|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Missense_Mutation_p.R298K NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 298 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) AGTGCTGCCAGAGTGCCCCTG 0.463000 14 52 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152084813 152084813 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:152084813C>G ENST00000368804.1 - 2 879 c.880G>C c.(880-882)Gag>Cag p.E294Q NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 294 keratinization cytoskeleton calcium ion binding p.E293fs*6(1) NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) tgctgctgctCTTCCTCCTGG 0.647000 43 62 0 0 1 0 0 SIN3A 25942 broad.mit.edu 37 15 75664520 75664520 + Missense_Mutation SNP G G C rs146289897 TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:75664520G>C ENST00000394947.3 - 21 3936 c.3622C>G c.(3622-3624)Cag>Gag p.Q1208E SIN3A_ENST00000394949.4_Missense_Mutation_p.Q1208E|SIN3A_ENST00000360439.4_Missense_Mutation_p.Q1208E NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 1208 blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 TGGAATCTCTGATGTAGACGC 0.473000 24 62 0 0 1 0 0 ANO9 338440 broad.mit.edu 37 11 432049 432049 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:432049C>T ENST00000332826.6 - 5 440 c.356G>A c.(355-357)aGa>aAa p.R119K NM_001012302.2 NP_001012302 A1A5B4 ANO9_HUMAN anoctamin 9 119 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 GATTCGGATTCTGAGACTCAA 0.637000 5 13 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803091 185803091 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:185803091G>A ENST00000302277.6 + 4 3562 c.2968G>A c.(2968-2970)Gag>Aag p.E990K NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 990 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GACACCAACTGAGTGGCTGCG 0.413000 13 95 0 0 1 0 0 RAD51C 5889 broad.mit.edu 37 17 56787259 56787259 + Missense_Mutation SNP C C T rs28363311 TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:56787259C>T ENST00000337432.4 + 5 816 c.745C>T c.(745-747)Cgt>Tgt p.R249C RAD51C_ENST00000583539.1_Missense_Mutation_p.R249C NM_058216.1 NP_478123.1 O43502 RA51C_HUMAN RAD51 paralog C 249 R -> C (in dbSNP:rs28363311). blood coagulation|DNA repair mitochondrion|nucleoplasm|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity p.R249C(1) upper_aerodigestive_tract(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) TTTTCCATTTCGTCATGACCT 0.333000 Homologous recombination Hereditary Breast-Ovarian Cancer, non-BRCA1/2 36 87 0 0 1 0 0 CHKA 1119 broad.mit.edu 37 11 67864565 67864565 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:67864565G>A ENST00000265689.4 - 2 409 c.383C>T c.(382-384)tCc>tTc p.S128F CHKA_ENST00000356135.5_Missense_Mutation_p.S128F NM_001277.2 NP_001268.2 P35790 CHKA_HUMAN choline kinase alpha 128 lipid transport|phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 13 Choline(DB00122) GTCAGGTAGGGAGCACTGGAA 0.488000 13 23 0 0 1 0 0 NCAM2 4685 broad.mit.edu 37 21 22656681 22656681 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr21:22656681G>C ENST00000400546.1 + 3 547 c.298G>C c.(298-300)Gga>Cga p.G100R NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000535285.1_Missense_Mutation_p.G125R NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 100 Ig-like C2-type 1. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) AGATGCCAAAGGACAAACACA 0.343000 4 30 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222420 140222420 + Missense_Mutation SNP C C G rs146745311 TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr5:140222420C>G ENST00000531613.1 + 1 1514 c.1514C>G c.(1513-1515)tCg>tGg p.S505W PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.S505W|PCDHA5_ENST00000529619.1_Intron NM_018911.2 NP_061734.1 p.S505L(1) NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCTCGCTGTCGAGCTACATT 0.667000 58 41 0 0 1 0 0 ZDHHC9 51114 broad.mit.edu 37 X 128957704 128957704 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:128957704G>A ENST00000357166.6 - 5 829 c.438C>T c.(436-438)atC>atT p.I146I ZDHHC9_ENST00000491039.1_5'UTR|ZDHHC9_ENST00000371064.3_Silent_p.I146I NM_016032.3 NP_057116.2 Q9Y397 ZDHC9_HUMAN zinc finger, DHHC-type containing 9 146 endoplasmic reticulum membrane|Golgi membrane|integral to membrane acyltransferase activity|zinc ion binding p.I146I(1) breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 19 GAGGCCGGAAGATCTTGCATG 0.512000 23 87 0 0 1 0 0 ADPGK 83440 broad.mit.edu 37 15 73067284 73067284 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:73067284C>G ENST00000311669.8 - 2 481 c.388G>C c.(388-390)Gag>Cag p.E130Q ADPGK_ENST00000567733.1_5'UTR NM_031284.4 NP_112574.3 Q9BRR6 ADPGK_HUMAN ADP-dependent glucokinase 130 ADPK. glycolysis extracellular region ADP-specific glucokinase activity|metal ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1) 7 AAGAAGCGCTCAGCAGCTGCT 0.473000 16 43 0 0 1 0 0 VPS28 51160 broad.mit.edu 37 8 145649189 145649189 + Nonstop_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:145649189C>G ENST00000292510.4 - 10 754 c.665G>C c.(664-666)tGa>tCa p.*222S VPS28_ENST00000377348.2_3'UTR|VPS28_ENST00000526054.1_Nonstop_Mutation_p.*222S|VPS28_ENST00000529182.1_3'UTR NM_016208.2 NP_057292.1 Q9UK41 VPS28_HUMAN vacuolar protein sorting 28 homolog (S. cerevisiae) 0 cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport cytosol|late endosome membrane|plasma membrane protein binding kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) GCCCCGGGCTCAGGCATGCAG 0.617000 9 32 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152082303 152082303 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:152082303C>G ENST00000368804.1 - 2 3389 c.3390G>C c.(3388-3390)aaG>aaC p.K1130N NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1130 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ggcgccttctcttctcccgtt 0.612000 61 101 0 0 1 0 0 ELAVL1 1994 broad.mit.edu 37 19 8038740 8038740 + Nonsense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:8038740G>C ENST00000407627.2 - 4 428 c.299C>G c.(298-300)tCa>tGa p.S100* ELAVL1_ENST00000593807.1_Nonsense_Mutation_p.S100*|ELAVL1_ENST00000351593.5_Nonsense_Mutation_p.S127*|ELAVL1_ENST00000596459.1_Nonsense_Mutation_p.S100* NM_001419.2 NP_001410.2 Q15717 ELAV1_HUMAN ELAV like RNA binding protein 1 100 3'-UTR-mediated mRNA stabilization|multicellular organismal development cytoplasm|nucleoplasm identical protein binding|mRNA binding|nucleotide binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 GATCACCTCTGAGCTCGGGCG 0.542000 26 25 0 0 1 0 0 RNF40 9810 broad.mit.edu 37 16 30774487 30774487 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:30774487G>A ENST00000324685.6 + 3 616 c.181G>A c.(181-183)Gag>Aag p.E61K RNF40_ENST00000563683.1_Missense_Mutation_p.E61K|RNF40_ENST00000402121.3_Missense_Mutation_p.E61K|RNF40_ENST00000357890.5_Missense_Mutation_p.E61K NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 61 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) GAAACTGGCAGAGCGGCTGGA 0.532000 16 31 0 0 1 0 0 NLE1 54475 broad.mit.edu 37 17 33469022 33469022 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:33469022G>A ENST00000442241.4 - 2 177 c.138C>T c.(136-138)ctC>ctT p.L46L NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000360831.5_Silent_p.L46L NM_001014445.1|NM_018096.3 NP_001014445.1|NP_060566.2 Q9NVX2 NLE1_HUMAN notchless homolog 1 (Drosophila) 46 nucleolus NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 22 Ovarian(249;0.17) CGTTGCACACGAGCTGCAGCC 0.662000 3 5 0 0 1 0 0 YARS 8565 broad.mit.edu 37 1 33276535 33276535 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:33276535C>G ENST00000373477.4 - 2 1089 c.181G>C c.(181-183)Gac>Cac p.D61H NM_003680.3 NP_003671.1 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase 61 apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) TTTAAGAAGTCTGCAATCTTT 0.493000 75 141 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103322387 103322387 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:103322387C>G ENST00000233969.2 + 11 2202 c.2060C>G c.(2059-2061)tCt>tGt p.S687C NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 687 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 AGGACTATTTCTATTGCAGGT 0.299000 17 36 0 0 1 0 0 CBLB 868 broad.mit.edu 37 3 105464816 105464816 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:105464816G>A ENST00000264122.4 - 6 1111 c.790C>T c.(790-792)Ctc>Ttc p.L264F CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000403724.1_Missense_Mutation_p.L264F|CBLB_ENST00000405772.1_Missense_Mutation_p.L264F|CBLB_ENST00000394027.3_Missense_Mutation_p.L286F NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 264 Cbl-PTB.|SH2-like. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 TCATATGTGAGAAATGCCATG 0.343000 Mis S AML 33 82 0 0 1 0 0 FDX1 2230 broad.mit.edu 37 11 110306560 110306560 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:110306560C>T ENST00000260270.2 + 2 426 c.188C>T c.(187-189)tCa>tTa p.S63L NM_004109.4 NP_004100.1 P10109 ADX_HUMAN ferredoxin 1 63 electron transport chain|transport mitochondrial matrix 2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding lung(2) 2 all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228) Mitotane(DB00648) TTTTCCAGCTCAGAAGATAAA 0.318000 8 10 0 0 1 0 0 MAN1A1 4121 broad.mit.edu 37 6 119510944 119510944 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:119510944G>A ENST00000368468.3 - 10 1872 c.1431C>T c.(1429-1431)ttC>ttT p.F477F NM_005907.3 NP_005898.2 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 477 post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) TGCCCCCCGCGAAGCAGGTCA 0.567000 17 41 0 0 1 0 0 ZNF648 127665 broad.mit.edu 37 1 182025802 182025802 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:182025802G>C ENST00000339948.3 - 2 1551 c.1344C>G c.(1342-1344)ttC>ttG p.F448L NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 448 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 CAGCGCACTTGAAAGGCCTCT 0.682000 3 16 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26423234 26423234 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr22:26423234G>C ENST00000335473.7 + 43 7544 c.7294G>C c.(7294-7296)Gac>Cac p.D2432H MYO18B_ENST00000536101.1_Missense_Mutation_p.D2432H|MYO18B_ENST00000407587.2_Missense_Mutation_p.D2433H NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2432 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity p.D2433N(1) 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 CCCAAGCCTCGACTACGAACG 0.562000 16 69 0 0 1 0 0 PARVB 29780 broad.mit.edu 37 22 44395509 44395509 + Nonsense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr22:44395509C>G ENST00000406477.3 + 2 297 c.167C>G c.(166-168)tCa>tGa p.S56* NM_001003828.2 NP_001003828.1 Q9HBI1 PARVB_HUMAN parvin, beta 0 cell adhesion|cell junction assembly cytoskeleton|cytosol|focal adhesion actin binding NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 25 Ovarian(80;0.0246)|all_neural(38;0.0423) ctccctggctcagacaGATCA 0.562000 14 94 0 0 1 0 0 ESRRB 2103 broad.mit.edu 37 14 76964702 76964702 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr14:76964702G>A ENST00000380887.2 + 7 1275 c.1203G>A c.(1201-1203)caG>caA p.Q401Q ESRRB_ENST00000261532.7_Silent_p.Q401Q|ESRRB_ENST00000509242.1_Silent_p.Q401Q|RP11-187O7.3_ENST00000554926.1_lincRNA|ESRRB_ENST00000556177.1_Silent_p.Q401Q A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 401 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) TGCTGCGGCAGACGGCCGCCA 0.622000 7 11 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157502141 157502141 + Silent SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:157502141G>C ENST00000346085.5 + 12 3175 c.3174G>C c.(3172-3174)acG>acC p.T1058T ARID1B_ENST00000275248.4_Silent_p.T1040T|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000367148.1_Silent_p.T1098T|ARID1B_ENST00000350026.5_Silent_p.T1045T NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1045 ARID. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) AGAAGATCACGAAGGTGTACG 0.572000 8 19 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75898184 75898184 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:75898184G>A ENST00000322507.8 - 8 1200 c.891C>T c.(889-891)ttC>ttT p.F297F COL12A1_ENST00000483888.2_Silent_p.F297F|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.F297F NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 297 VWFA 1. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 TGGCCACATTGAAAACATGGT 0.398000 31 38 0 0 1 0 0 MARS2 92935 broad.mit.edu 37 2 198570649 198570649 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:198570649G>A ENST00000282276.6 + 1 563 c.520G>A c.(520-522)Gag>Aag p.E174K AC011997.1_ENST00000409845.1_Intron NM_138395.3 NP_612404.1 Q96GW9 SYMM_HUMAN methionyl-tRNA synthetase 2, mitochondrial 174 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 22 L-Methionine(DB00134) CGCTTCCGACGAGTGCTTCCT 0.627000 23 45 0 0 1 0 0 USP39 10713 broad.mit.edu 37 2 85843553 85843553 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:85843553G>A ENST00000323701.6 + 1 245 c.235G>A c.(235-237)Gat>Aat p.D79N USP39_ENST00000459775.1_Intron|USP39_ENST00000409470.1_Missense_Mutation_p.D79N|USP39_ENST00000409766.3_Missense_Mutation_p.D79N|USP39_ENST00000409025.1_Missense_Mutation_p.D79N|USP39_ENST00000450066.2_Intron NM_006590.3 NP_006581.2 Q53GS9 SNUT2_HUMAN ubiquitin specific peptidase 39 79 Arg-rich. spliceosome assembly|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 19 GCGCGAGGTCGATGAGGACTC 0.677000 5 5 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120599780 120599780 + Missense_Mutation SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:120599780G>T ENST00000300648.6 - 21 2258 c.2246C>A c.(2245-2247)tCc>tAc p.S749Y NM_006836.1 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 749 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTTCTGCACGGAGGCAGTGAT 0.592000 27 37 2.27525e-19 2.42197e-19 1 1 0 ITGA7 3679 broad.mit.edu 37 12 56088298 56088298 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:56088298G>C ENST00000257880.7 - 18 2637 c.2418C>G c.(2416-2418)ttC>ttG p.F806L ITGA7_ENST00000553804.1_Missense_Mutation_p.F766L|ITGA7_ENST00000452168.2_Missense_Mutation_p.F669L|ITGA7_ENST00000555728.1_Missense_Mutation_p.F806L|ITGA7_ENST00000347027.6_Missense_Mutation_p.F756L|ITGA7_ENST00000394229.2_Missense_Mutation_p.F762L|ITGA7_ENST00000257879.6_Missense_Mutation_p.F762L|ITGA7_ENST00000394230.2_Missense_Mutation_p.F766L Q13683 ITA7_HUMAN integrin, alpha 7 806 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 GGATGAGGTAGAAGGTGACCT 0.577000 7 23 0 0 1 0 0 LCLAT1 253558 broad.mit.edu 37 2 30790973 30790973 + Nonsense_Mutation SNP C C T rs141543989 TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:30790973C>T ENST00000309052.4 + 6 882 c.673C>T c.(673-675)Cag>Tag p.Q225* LCLAT1_ENST00000319406.4_Nonsense_Mutation_p.Q225*|LCLAT1_ENST00000359433.1_Nonsense_Mutation_p.Q225*|LCLAT1_ENST00000379509.3_Nonsense_Mutation_p.Q187*|LCLAT1_ENST00000540623.1_Nonsense_Mutation_p.Q187*|LCLAT1_ENST00000491680.2_3'UTR NM_182551.3 NP_872357.2 Q6UWP7 LCLT1_HUMAN lysocardiolipin acyltransferase 1 225 multicellular organismal development|phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2) 19 AAATGGACTTCAGAAATATGA 0.318000 13 58 0 0 1 0 0 IMPG2 50939 broad.mit.edu 37 3 100964768 100964768 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:100964768G>C ENST00000193391.7 - 12 1608 c.1421C>G c.(1420-1422)tCt>tGt p.S474C NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 474 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CTCTGGGGAAGAGCTGAGGCC 0.522000 10 57 0 0 1 0 0 BRAP 8315 broad.mit.edu 37 12 112082359 112082359 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:112082359G>A ENST00000419234.4 - 12 1616 c.1423C>T c.(1423-1425)Cag>Tag p.Q475* BRAP_ENST00000539060.1_Nonsense_Mutation_p.Q296*|BRAP_ENST00000327551.6_Nonsense_Mutation_p.Q445* NM_006768.3 NP_006759.3 Q7Z569 BRAP_HUMAN BRCA1 associated protein 475 MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 20 GTGTTTAGCTGAGTGCACCTT 0.453000 40 86 0 0 1 0 0 SPOPL 339745 broad.mit.edu 37 2 139318471 139318471 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:139318471G>C ENST00000280098.4 + 8 1190 c.811G>C c.(811-813)Gac>Cac p.D271H NM_001001664.2 NP_001001664.1 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 271 nucleus breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2) 21 BRCA - Breast invasive adenocarcinoma(221;0.0296) CAAAATGGCTGACAACTTGTT 0.358000 17 45 0 0 1 0 0 LHB 3972 broad.mit.edu 37 19 49519531 49519531 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:49519531G>A ENST00000221421.2 - 3 219 c.220C>T c.(220-222)Cag>Tag p.Q74* NM_000894.2 NP_000885.1 P01229 LSHB_HUMAN luteinizing hormone beta polypeptide 74 Q -> R (in HGON-LHB; lack of receptor- binding; dbSNP:rs5030773). cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction extracellular region|soluble fraction hormone activity cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 8 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) Lutropin alfa(DB00044)|Menotropins(DB00032) CACACCACCTGAGGCAGGGGC 0.677000 55 34 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 179966204 179966204 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:179966204G>A ENST00000367607.3 + 6 1330 c.912G>A c.(910-912)caG>caA p.Q304Q NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 304 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 GCCGGGGCCAGAAGCTGGGTC 0.433000 35 84 0 0 1 0 0 FOXO3 2309 broad.mit.edu 37 6 108985271 108985271 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:108985271C>G ENST00000406360.1 + 2 1578 c.1235C>G c.(1234-1236)tCt>tGt p.S412C FOXO3_ENST00000540898.1_Missense_Mutation_p.S192C|FOXO3_ENST00000343882.6_Missense_Mutation_p.S412C NM_001455.3 NP_001446.1 O43524 FOXO3_HUMAN forkhead box O3 412 antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) CAGCGGAGCTCTAGCTTCCCG 0.592000 23 51 0 0 1 0 0 C15orf48 84419 broad.mit.edu 37 15 45723015 45723015 + Silent SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:45723015G>C ENST00000344300.3 + 1 211 c.21G>C c.(19-21)ctG>ctC p.L7L RP11-519G16.5_ENST00000559553.1_RNA|C15orf48_ENST00000396650.2_Silent_p.L7L NM_032413.3 NP_115789.1 Q9C002 NMES1_HUMAN chromosome 15 open reading frame 48 7 nucleus large_intestine(1)|lung(2)|ovary(1) 4 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06) TCCAACTCCTGATGAAAAGGA 0.343000 OREG0023107 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 36 0 0 1 0 0 CYP4F8 11283 broad.mit.edu 37 19 15729029 15729029 + RNA SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:15729029C>T ENST00000441682.2 + 0 407 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 CCCAAAGCTTCTGTGCAGCTC 0.522000 18 18 0 0 1 0 0 MLF2 8079 broad.mit.edu 37 12 6858131 6858131 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:6858131C>G ENST00000203630.5 - 8 1221 c.577G>C c.(577-579)Gat>Cat p.D193H MLF2_ENST00000542154.1_Missense_Mutation_p.D193H|MLF2_ENST00000435120.1_Missense_Mutation_p.D193H|MLF2_ENST00000539187.1_Missense_Mutation_p.D193H Q15773 MLF2_HUMAN myeloid leukemia factor 2 193 defense response cytoplasm|nucleus protein binding kidney(2)|large_intestine(3)|lung(4) 9 CACTCGTCATCAAACGCTGCG 0.677000 5 12 0 0 1 0 0 CPSF2 53981 broad.mit.edu 37 14 92601740 92601740 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr14:92601740C>T ENST00000298875.4 + 6 730 c.445C>T c.(445-447)Ctg>Ttg p.L149L NM_017437.2 NP_059133.1 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2, 100kDa 149 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 24 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) TATCACACCTCTGCCAGCTGG 0.368000 19 50 0 0 1 0 0 IRS4 8471 broad.mit.edu 37 X 107979390 107979390 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:107979390G>A ENST00000372129.2 - 1 261 c.185C>T c.(184-186)tCc>tTc p.S62F RP6-24A23.3_ENST00000608811.1_RNA NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 62 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 GTCTGACCGGGAGCCAGTGGC 0.652000 24 34 0 0 1 0 0 DTX3L 151636 broad.mit.edu 37 3 122287474 122287474 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:122287474G>A ENST00000296161.4 + 3 727 c.538G>A c.(538-540)Gac>Aac p.D180N DTX3L_ENST00000383661.3_Intron NM_138287.3 NP_612144.1 Q8TDB6 DTX3L_HUMAN deltex 3-like (Drosophila) 180 histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0459) TGACTTCCAAGACATTGAAAG 0.433000 16 42 0 0 1 0 0 TAAR1 134864 broad.mit.edu 37 6 132967038 132967038 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:132967038C>T ENST00000275216.1 - 1 104 c.105G>A c.(103-105)ctG>ctA p.L35L NM_138327.1 NP_612200.1 Q96RJ0 TAAR1_HUMAN trace amine associated receptor 1 35 plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11) 18 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154) Amphetamine(DB00182) CGAGTGTGGTCAGAATTATGA 0.393000 45 76 0 0 1 0 0 ALX1 8092 broad.mit.edu 37 12 85674217 85674217 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:85674217G>C ENST00000316824.3 + 1 333 c.178G>C c.(178-180)Gag>Cag p.E60Q NM_006982.2 NP_008913.2 Q15699 ALX1_HUMAN ALX homeobox 1 60 brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1) 26 GBM - Glioblastoma multiforme(134;0.134) GCCCCGCGCCGAGCATCACGT 0.637000 17 29 0 0 1 0 0 SLC13A2 9058 broad.mit.edu 37 17 26816303 26816303 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:26816303C>T ENST00000444914.3 + 2 594 c.174C>T c.(172-174)gtC>gtT p.V58V SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000314669.5_Silent_p.V58V|SLC13A2_ENST00000537681.1_5'UTR NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 58 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) CCCTGGCCGTCACTGCCCTCT 0.612000 11 22 0 0 1 0 0 GNL3L 54552 broad.mit.edu 37 X 54581048 54581048 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:54581048G>A ENST00000336470.4 + 14 1508 c.1369G>A c.(1369-1371)Gaa>Aaa p.E457K GNL3L_ENST00000360845.2_Missense_Mutation_p.E457K NM_019067.5 NP_061940.1 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 (nucleolar)-like 457 ribosome biogenesis nucleolus GTP binding NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 30 GGACCCACTTGAAATGGAGAT 0.493000 13 43 0 0 1 0 0 DNAI1 27019 broad.mit.edu 37 9 34517360 34517360 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr9:34517360C>G ENST00000242317.4 + 19 2067 c.1896C>G c.(1894-1896)ctC>ctG p.L632L NM_001281428.1|NM_012144.2 NP_001268357.1|NP_036276.1 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 632 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) AGAACAGGCTCACCCACGTGC 0.537000 Kartagener syndrome 20 23 0 0 1 0 0 LZTS1 11178 broad.mit.edu 37 8 20107259 20107259 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:20107259C>G ENST00000381569.1 - 4 2122 c.1765G>C c.(1765-1767)Gag>Cag p.E589Q LZTS1_ENST00000265801.6_Missense_Mutation_p.E589Q|LZTS1_ENST00000522290.1_Missense_Mutation_p.E530Q Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 589 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1) 29 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) ATGATGTCCTCGTAGGGGATG 0.672000 18 39 0 0 1 0 0 ECE1 1889 broad.mit.edu 37 1 21551823 21551823 + Missense_Mutation SNP C C T rs140832903 TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:21551823C>T ENST00000415912.2 - 17 2037 c.1912G>A c.(1912-1914)Gtg>Atg p.V638M ECE1_ENST00000357071.4_Missense_Mutation_p.V642M|ECE1_ENST00000436918.2_Missense_Mutation_p.V654M|ECE1_ENST00000374893.6_Missense_Mutation_p.V654M|ECE1_ENST00000264205.6_Missense_Mutation_p.V651M NM_001113348.1 NP_001106819.1 P42892 ECE1_HUMAN endothelin converting enzyme 1 654 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) TCCCCGTTCACGCTGTAGTTG 0.637000 16 35 0 0 1 0 0 PMPCB 9512 broad.mit.edu 37 7 102937979 102937979 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:102937979C>G ENST00000249269.4 + 1 111 c.73C>G c.(73-75)Ctt>Gtt p.L25V PMPCB_ENST00000428154.1_Missense_Mutation_p.L25V|PMPCB_ENST00000420236.2_5'UTR NM_004279.2 NP_004270.2 O75439 MPPB_HUMAN peptidase (mitochondrial processing) beta 25 proteolysis mitochondrial matrix metalloendopeptidase activity|zinc ion binding p.L25V(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CAGCGAGAGTCTTCTAATCCG 0.662000 OREG0018240 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 18 0 0 1 0 0 ZNF75D 7626 broad.mit.edu 37 X 134427803 134427803 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:134427803G>A ENST00000370766.3 - 3 2973 c.264C>T c.(262-264)atC>atT p.I88I ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Silent_p.I88I NM_007131.3 NP_009062.2 P51815 ZN75D_HUMAN zinc finger protein 75D 88 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 GCATTTCCAAGATCTGCTCTT 0.502000 22 49 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60885766 60885766 + Silent SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr20:60885766G>C ENST00000252999.3 - 75 10467 c.10401C>G c.(10399-10401)ctC>ctG p.L3467L NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 3467 Laminin G-like 4. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGCCCACAAAGAGGGTGTGGG 0.697000 7 11 0 0 1 0 0 DDB2 1643 broad.mit.edu 37 11 47256432 47256432 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:47256432G>C ENST00000256996.4 + 6 1022 c.827G>C c.(826-828)aGa>aCa p.R276T DDB2_ENST00000378601.3_Intron|DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378603.3_Missense_Mutation_p.R212T NM_000107.2 NP_000098.1 Q92466 DDB2_HUMAN damage-specific DNA binding protein 2, 48kDa 276 nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV nucleoplasm|protein complex damaged DNA binding|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1) 17 CGCCAGGTTAGAGGGAAAGCC 0.552000 """Mis, N""" """skin basal cell, skin squamous cell, melanoma""" Direct reversal of damage;Nucleotide excision repair (NER) Xeroderma Pigmentosum 13 28 0 0 1 0 0 PHF8 23133 broad.mit.edu 37 X 54014218 54014218 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:54014218C>T ENST00000338154.6 - 15 2394 c.1890G>A c.(1888-1890)gcG>gcA p.A630A PHF8_ENST00000357988.5_Silent_p.A666A|PHF8_ENST00000338946.6_Silent_p.A529A|PHF8_ENST00000322659.8_Silent_p.A630A NM_015107.2 NP_055922.1 Q9UPP1 PHF8_HUMAN PHD finger protein 8 666 brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 TTATCAGGGTCGCCTTCTCCT 0.453000 4 3 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55568475 55568475 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:55568475C>T ENST00000395445.1 - 36 5729 c.5335G>A c.(5335-5337)Gaa>Aaa p.E1779K PCDH15_ENST00000395440.1_Missense_Mutation_p.E713K|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.E644K|PCDH15_ENST00000395446.1_Missense_Mutation_p.E975K|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395438.1_3'UTR NM_001142769.1 NP_001136241.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TTGTAACCTTCAGAGTTTGCT 0.478000 HNSCC(58;0.16) 5 25 0 0 1 0 0 MFSD2B 388931 broad.mit.edu 37 2 24236213 24236213 + Missense_Mutation SNP T T G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:24236213T>G ENST00000338315.4 + 2 155 c.155T>G c.(154-156)gTc>gGc p.V52G MFSD2B_ENST00000406420.3_Missense_Mutation_p.V52G A6NFX1 MFS2B_HUMAN major facilitator superfamily domain containing 2B 52 transport integral to membrane cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 10 ATTGGTGGGGTCCCCAACCAG 0.557000 10 24 0 0 1 0 0 ZNF654 55279 broad.mit.edu 37 3 88188699 88188699 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:88188699C>T ENST00000309495.5 + 1 446 c.239C>T c.(238-240)tCa>tTa p.S80L CGGBP1_ENST00000462901.1_Intron NM_018293.2 NP_060763.2 Q8IZM8 ZN654_HUMAN zinc finger protein 654 80 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3) 12 Lung NSC(201;0.0283) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) TCTTCCATTTCATTTGAAAAT 0.398000 12 27 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39229889 39229889 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:39229889C>G ENST00000340369.3 - 2 1276 c.1048G>C c.(1048-1050)Gag>Cag p.E350Q XIRP1_ENST00000396251.1_Missense_Mutation_p.E350Q|XIRP1_ENST00000421646.1_Intron NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 350 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GCTCGGGTCTCAAACAGATGC 0.597000 48 100 0 0 1 0 0 VWCE 220001 broad.mit.edu 37 11 61034934 61034934 + Splice_Site SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:61034934C>T ENST00000335613.5 - 16 2351 c.1965G>A c.(1963-1965)ctG>ctA p.L655L VWCE_ENST00000535710.1_Splice_Site_p.L120L NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 655 VWFC 5. extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 TGGTCCATACCAGGCAGATGC 0.557000 11 32 0 0 1 0 0 TRBV6-8 28599 broad.mit.edu 37 7 142124551 142124551 + RNA SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:142124551G>A ENST00000390376.2 - 0 14 CACAGCACAGGAGCCCGAGGC 0.607000 30 92 0 0 1 0 0 PLD3 23646 broad.mit.edu 37 19 40883925 40883925 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:40883925G>A ENST00000409587.1 + 13 1715 c.1318G>A c.(1318-1320)Gag>Aag p.E440K PLD3_ENST00000409281.1_Missense_Mutation_p.E440K|PLD3_ENST00000356508.5_Missense_Mutation_p.E440K|PLD3_ENST00000409419.1_Missense_Mutation_p.E440K|PLD3_ENST00000409735.4_Missense_Mutation_p.E440K Q8IV08 PLD3_HUMAN phospholipase D family, member 3 440 lipid catabolic process endoplasmic reticulum membrane|integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 20 Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248) CTACTTCACGGAGACGGCGGG 0.642000 14 63 0 0 1 0 0 TCOF1 6949 broad.mit.edu 37 5 149751792 149751792 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr5:149751792G>A ENST00000451292.1 + 7 971 c.863G>A c.(862-864)cGa>cAa p.R288Q TCOF1_ENST00000513346.1_Missense_Mutation_p.R288Q|TCOF1_ENST00000323668.7_Intron|TCOF1_ENST00000394269.3_Missense_Mutation_p.R288Q|TCOF1_ENST00000504761.2_Missense_Mutation_p.R288Q|TCOF1_ENST00000377797.3_Missense_Mutation_p.R288Q|TCOF1_ENST00000439160.2_Missense_Mutation_p.R288Q|TCOF1_ENST00000445265.2_Intron Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 288 skeletal system development nucleolus protein binding|transporter activity NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCAGGGACACGAAGCCAGGTG 0.652000 7 4 0 0 1 0 0 COG2 22796 broad.mit.edu 37 1 230778413 230778413 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:230778413G>A ENST00000366669.4 + 1 176 c.61G>A c.(61-63)Gag>Aag p.E21K COG2_ENST00000366668.3_Missense_Mutation_p.E21K|COG2_ENST00000535166.1_5'UTR NM_001145036.1|NM_007357.2 NP_001138508.1|NP_031383.1 Q14746 COG2_HUMAN component of oligomeric golgi complex 2 21 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3) 27 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) CGACAAGGACGAGTTCATGAA 0.662000 3 9 0 0 1 0 0 SPATA32 124783 broad.mit.edu 37 17 43333102 43333102 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:43333102G>A ENST00000543122.1 - 6 1165 c.384C>T c.(382-384)atC>atT p.I128I MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|SPATA32_ENST00000331780.4_Silent_p.I149I|MAP3K14-AS1_ENST00000588504.1_RNA spermatogenesis associated 32 TCTGCGCACTGATGGAGTGAT 0.582000 24 53 0 0 1 0 0 MROH7 374977 broad.mit.edu 37 1 55175632 55175632 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:55175632G>C ENST00000421030.2 + 24 4029 c.3744G>C c.(3742-3744)ttG>ttC p.L1248F MROH7_ENST00000454855.2_Missense_Mutation_p.L766F|MROH7_ENST00000409996.1_Missense_Mutation_p.L816F|MROH7-TTC4_ENST00000414150.2_Intron NM_001039464.2 NP_001034553 maestro heat-like repeat family member 7 p.L1245F(1)|p.L1248F(1) TGGATAACTTGAGACATGACC 0.567000 15 38 0 0 1 0 0 KLF5 688 broad.mit.edu 37 13 73636358 73636358 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr13:73636358C>T ENST00000377687.4 + 2 1157 c.621C>T c.(619-621)ttC>ttT p.F207F KLF5_ENST00000539231.1_Silent_p.F116F|KLF5_ENST00000477333.1_3'UTR NM_001730.3 NP_001721.2 Q13887 KLF5_HUMAN Kruppel-like factor 5 (intestinal) 207 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) ACAATATTTTCATCAAACAAG 0.527000 15 32 0 0 1 0 0 EML4 27436 broad.mit.edu 37 2 42543170 42543170 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:42543170C>T ENST00000318522.5 + 18 2298 c.2036C>T c.(2035-2037)tCt>tTt p.S679F EML4_ENST00000401738.3_Missense_Mutation_p.S690F|EML4_ENST00000453191.2_Intron|EML4_ENST00000402711.2_Missense_Mutation_p.S621F NM_019063.3 NP_061936 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 679 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(543) NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 12 GAACAGCTCTCTGTGATGCGC 0.408000 T ALK NSCLC 20 56 0 0 1 0 0 TRIM50 135892 broad.mit.edu 37 7 72738498 72738498 + Silent SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:72738498G>C ENST00000333149.2 - 2 488 c.288C>G c.(286-288)ctC>ctG p.L96L TRIM50_ENST00000453152.1_Silent_p.L96L|TRIM50_ENST00000493498.1_5'UTR NM_178125.2 NP_835226.2 Q86XT4 TRI50_HUMAN tripartite motif containing 50 96 cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2) 20 AGAAAAGGCTGAGCGGGTTCC 0.667000 OREG0018105 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 93 0 0 1 0 0 OSBPL9 114883 broad.mit.edu 37 1 52246873 52246873 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:52246873C>G ENST00000371710.3 + 16 1530 c.1348C>G c.(1348-1350)Cag>Gag p.Q450E OSBPL9_ENST00000371714.1_Missense_Mutation_p.Q419E|OSBPL9_ENST00000530544.1_Missense_Mutation_p.Q351E|OSBPL9_ENST00000435686.2_Missense_Mutation_p.Q267E|OSBPL9_ENST00000453295.1_Missense_Mutation_p.Q415E|OSBPL9_ENST00000337809.4_Missense_Mutation_p.Q437E|OSBPL9_ENST00000428468.1_Missense_Mutation_p.Q432E|OSBPL9_ENST00000361556.5_Missense_Mutation_p.Q322E|OSBPL9_ENST00000531828.1_Missense_Mutation_p.Q267E|OSBPL9_ENST00000462759.1_Missense_Mutation_p.Q254E|OSBPL9_ENST00000447887.1_Missense_Mutation_p.Q442E|OSBPL9_ENST00000486942.1_Missense_Mutation_p.Q254E NM_024586.5|NM_148906.2 NP_078862.4|NP_683704.2 Q96SU4 OSBL9_HUMAN oxysterol binding protein-like 9 432 lipid transport lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1) 18 TCGAATGGTTCAGGTTGTGAA 0.438000 8 35 0 0 1 0 0 PUM2 23369 broad.mit.edu 37 2 20507824 20507824 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:20507824C>T ENST00000361078.2 - 6 820 c.798G>A c.(796-798)caG>caA p.Q266Q PUM2_ENST00000319801.5_Silent_p.Q266Q|PUM2_ENST00000403432.1_Silent_p.Q266Q|PUM2_ENST00000338086.5_Silent_p.Q266Q|PUM2_ENST00000536417.1_Silent_p.Q210Q Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 266 regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CATTAGTCCTCTGAAAGAGCT 0.338000 15 49 0 0 1 0 0 DISC1 27185 broad.mit.edu 37 1 231830283 231830283 + Missense_Mutation SNP G G C rs149702548 TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:231830283G>C ENST00000439617.2 + 2 832 c.779G>C c.(778-780)cGa>cCa p.R260P DISC1_ENST00000537876.1_Missense_Mutation_p.R260P|DISC1_ENST00000539444.1_Missense_Mutation_p.R260P|DISC1_ENST00000366633.3_Missense_Mutation_p.R260P|DISC1_ENST00000366636.4_Missense_Mutation_p.R260P|DISC1_ENST00000535983.1_Missense_Mutation_p.R260P|DISC1_ENST00000602281.1_Missense_Mutation_p.R260P|DISC1_ENST00000317586.4_Missense_Mutation_p.R260P|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602873.1_Intron|TSNAX-DISC1_ENST00000602962.1_3'UTR NM_001164537.1|NM_001164540.1|NM_018662.2 NP_001158009.1|NP_001158012.1|NP_061132.2 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 260 Interaction with MAP1A. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) GAGGACCCGCGATGTCTCTCT 0.627000 23 39 0 0 1 0 0 NCOA7 135112 broad.mit.edu 37 6 126210086 126210086 + Splice_Site SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:126210086G>A ENST00000368357.3 + 10 1238 c.886G>A c.(886-888)Gac>Aac p.D296N NCOA7_ENST00000229634.9_Intron|NCOA7_ENST00000392477.2_Splice_Site_p.D296N NM_001199619.1|NM_001199620.1 NP_001186548.1|NP_001186549.1 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 296 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2) 39 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) CCCCAACAGTGACCTACCTCA 0.403000 37 90 0 0 1 0 0 FAM3D 131177 broad.mit.edu 37 3 58629415 58629415 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:58629415C>T ENST00000358781.2 - 6 606 c.296G>A c.(295-297)aGa>aAa p.R99K NM_138805.2 NP_620160.1 Q96BQ1 FAM3D_HUMAN family with sequence similarity 3, member D 99 negative regulation of insulin secretion extracellular region cytokine activity large_intestine(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169) GTTTAGGCCTCTGCCCACATT 0.512000 12 76 0 0 1 0 0 PPARD 5467 broad.mit.edu 37 6 35391834 35391834 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:35391834C>G ENST00000311565.4 + 7 885 c.536C>G c.(535-537)tCc>tGc p.S179C PPARD_ENST00000360694.3_Missense_Mutation_p.S179C|PPARD_ENST00000448077.2_Missense_Mutation_p.S140C|PPARD_ENST00000444397.1_Missense_Mutation_p.S179C|PPARD_ENST00000337400.2_Missense_Mutation_p.S179C|PPARD_ENST00000540939.1_Missense_Mutation_p.S76C|PPARD_ENST00000418635.2_Missense_Mutation_p.S81C NM_001171818.1 NP_001165289.1 Q03181 PPARD_HUMAN peroxisome proliferator-activated receptor delta 179 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) AAGGCCTTCTCCAAGCACATC 0.577000 21 42 0 0 1 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57868242 57868242 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:57868242C>T ENST00000393797.2 - 18 2209 c.2017G>A c.(2017-2019)Gat>Aat p.D673N ARHGAP9_ENST00000393791.3_Missense_Mutation_p.D583N|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.D583N|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.D602N|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.D662N|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.D399N Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 602 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) TACCTCCCATCGGAGGTGACC 0.512000 12 29 0 0 1 0 0 PATZ1 23598 broad.mit.edu 37 22 31737399 31737399 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr22:31737399C>T ENST00000215919.3 - 3 1779 c.1606G>A c.(1606-1608)Gtt>Att p.V536I PATZ1_ENST00000266269.5_Intron|PATZ1_ENST00000351933.4_Intron|PATZ1_ENST00000405309.3_Intron NM_032051.1 NP_114440.1 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 0 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 12 GGCTAGCCAACAGGCCACTGG 0.637000 28 51 0 0 1 0 0 CASP1 834 broad.mit.edu 37 11 104905127 104905127 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:104905127C>T ENST00000533400.1 - 2 117 c.82G>A c.(82-84)Gaa>Aaa p.E28K CASP1_ENST00000531166.1_Intron|CASP1_ENST00000598974.1_Missense_Mutation_p.E28K|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Missense_Mutation_p.E28K|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000527979.1_Missense_Mutation_p.E12K|CASP1_ENST00000436863.3_Missense_Mutation_p.E28K|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000528974.1_Intron|CASP1_ENST00000525825.1_Missense_Mutation_p.E28K|CASP1_ENST00000393136.4_Missense_Mutation_p.E28K|CASP1_ENST00000353247.5_Intron NM_001257118.1 NP_001244047.1 P29466 CASP1_HUMAN caspase 1, apoptosis-related cysteine peptidase 28 CARD. cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) TGTAATAATTCATCCAGTAAG 0.418000 65 147 0 0 1 0 0 STRA8 346673 broad.mit.edu 37 7 134939929 134939929 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:134939929C>T ENST00000275764.3 + 8 870 c.870C>T c.(868-870)atC>atT p.I290I NM_182489.1 NP_872295.1 Q7Z7C7 STRA8_HUMAN stimulated by retinoic acid 8 290 DNA replication|regulation of transcription, DNA-dependent cytoplasm|nucleus breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1) 16 ATATGCAGATCATCAACTTTT 0.453000 35 84 0 0 1 0 0 FOXO3 2309 broad.mit.edu 37 6 108985623 108985623 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:108985623C>T ENST00000406360.1 + 2 1930 c.1587C>T c.(1585-1587)gtC>gtT p.V529V FOXO3_ENST00000540898.1_Silent_p.V309V|FOXO3_ENST00000343882.6_Silent_p.V529V NM_001455.3 NP_001446.1 O43524 FOXO3_HUMAN forkhead box O3 529 antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) GAAGTTTGGTCAATCAGAACT 0.567000 26 45 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189855742 189855742 + Nonsense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:189855742C>T ENST00000304636.3 + 11 981 c.811C>T c.(811-813)Cga>Tga p.R271* COL3A1_ENST00000317840.5_Nonsense_Mutation_p.R271* NM_000090.3 NP_000081 P02461 CO3A1_HUMAN collagen, type III, alpha 1 271 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CTTCGATGGACGAAATGGAGA 0.284000 23 82 0 0 1 0 0 ZNF75D 7626 broad.mit.edu 37 X 134424953 134424953 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:134424953C>G ENST00000370766.3 - 6 3514 c.805G>C c.(805-807)Gag>Cag p.E269Q ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.E174Q NM_007131.3 NP_009062.2 P51815 ZN75D_HUMAN zinc finger protein 75D 269 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 ATGACAGTCTCATAGATATCC 0.378000 42 86 0 0 1 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38133224 38133224 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:38133224C>G ENST00000317025.8 - 24 4766 c.4249G>C c.(4249-4251)Gaa>Caa p.E1417Q WHSC1L1_ENST00000527502.1_Missense_Mutation_p.E1406Q|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.E1368Q NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 1417 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) CTCCAGTATTCTGGTGACACA 0.448000 T NUP98 AML 11 27 0 0 1 0 0 SSH3 54961 broad.mit.edu 37 11 67071613 67071613 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:67071613C>G ENST00000308127.4 + 2 269 c.91C>G c.(91-93)Cga>Gga p.R31G SSH3_ENST00000308298.7_Missense_Mutation_p.R31G|SSH3_ENST00000376757.5_Missense_Mutation_p.R31G|SSH3_ENST00000532181.1_3'UTR NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 31 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GCGAAGGAGTCGACTCCAGCG 0.687000 3 6 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111696185 111696185 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:111696185G>C ENST00000435970.1 - 15 3955 c.3139C>G c.(3139-3141)Cca>Gca p.P1047A REV3L_ENST00000368805.1_Missense_Mutation_p.P1125A|REV3L_ENST00000358835.3_Missense_Mutation_p.P1125A|REV3L_ENST00000368802.3_Missense_Mutation_p.P1125A O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1125 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CAGCGAGGTGGAGAAGAATTT 0.403000 DNA polymerases (catalytic subunits) 31 110 0 0 1 0 0 USP6NL 9712 broad.mit.edu 37 10 11504817 11504817 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:11504817C>T ENST00000609104.1 - 15 2504 c.2110G>A c.(2110-2112)Gac>Aac p.D704N USP6NL_ENST00000379237.2_Missense_Mutation_p.D727N|USP6NL_ENST00000277575.5_Missense_Mutation_p.D721N NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 GCACCAGTGTCAACAGGGAGG 0.493000 3 32 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57599381 57599381 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:57599381C>G ENST00000243077.3 + 75 11977 c.11511C>G c.(11509-11511)ctC>ctG p.L3837L NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3837 EGF-like 15. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GCTCCCAGCTCTGCAACAACA 0.622000 20 36 0 0 1 0 0 HIST1H1E 3008 broad.mit.edu 37 6 26157185 26157185 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:26157185G>A ENST00000304218.3 + 1 627 c.567G>A c.(565-567)gcG>gcA p.A189A NM_005321.2 NP_005312.1 P10412 H14_HUMAN histone cluster 1, H1e 189 nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 AGAGCCCAGCGAAGGCCAAAG 0.547000 10 15 0 0 1 0 0 CC2D2B 387707 broad.mit.edu 37 10 97778996 97778996 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr10:97778996G>A ENST00000344386.3 + 7 723 c.559G>A c.(559-561)Gaa>Aaa p.E187K ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.E187K|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000371198.2_Intron NM_001001732.3 NP_001001732.2 Q6DHV5 C2D2B_HUMAN coiled-coil and C2 domain containing 2B 187 large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1) 10 Colorectal(252;0.158) Epithelial(162;7.08e-08)|all cancers(201;2.71e-06) AGAAACTAATGAATATTTGCT 0.308000 9 69 0 0 1 0 0 EPB41L1 2036 broad.mit.edu 37 20 34778681 34778681 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr20:34778681C>G ENST00000338074.2 + 11 1423 c.1262C>G c.(1261-1263)tCc>tGc p.S421C EPB41L1_ENST00000441639.1_Missense_Mutation_p.S359C|EPB41L1_ENST00000373941.1_Missense_Mutation_p.S421C|EPB41L1_ENST00000202028.5_Missense_Mutation_p.S359C|EPB41L1_ENST00000373950.2_Missense_Mutation_p.S324C|EPB41L1_ENST00000373946.3_Missense_Mutation_p.S390C NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 421 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) GAGCGTTCTTCCAGCAAACGG 0.617000 9 28 0 0 1 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38194862 38194862 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr8:38194862C>G ENST00000317025.8 - 4 1388 c.871G>C c.(871-873)Gat>Cat p.D291H WHSC1L1_ENST00000316985.3_Missense_Mutation_p.D291H|RP11-513D5.2_ENST00000527912.1_RNA|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.D291H|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.D291H NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 291 PWWP 1. cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) AGCTGGGGATCACTTGAAACC 0.408000 T NUP98 AML 22 50 0 0 1 0 0 ELAVL4 1996 broad.mit.edu 37 1 50661265 50661265 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:50661265G>C ENST00000371824.1 + 5 798 c.541G>C c.(541-543)Gat>Cat p.D181H ELAVL4_ENST00000371821.1_Missense_Mutation_p.D186H|ELAVL4_ENST00000371823.4_Missense_Mutation_p.D181H|ELAVL4_ENST00000357083.4_Missense_Mutation_p.D198H|ELAVL4_ENST00000371819.1_Missense_Mutation_p.D186H|ELAVL4_ENST00000371827.1_Missense_Mutation_p.D181H|ELAVL4_ENST00000448907.2_Missense_Mutation_p.D184H P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 181 RRM 2. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding p.D198N(1)|p.D181N(1) NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 CATCCGCTTTGATAAGAGGAT 0.498000 25 52 0 0 1 0 0 NUP93 9688 broad.mit.edu 37 16 56852645 56852645 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:56852645C>T ENST00000564887.1 + 4 819 c.190C>T c.(190-192)Cgg>Tgg p.R64W NUP93_ENST00000542526.1_Missense_Mutation_p.R64W|NUP93_ENST00000308159.5_Missense_Mutation_p.R187W|NUP93_ENST00000569842.1_Missense_Mutation_p.R187W NM_001242795.1 NP_001229724.1 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 187 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 GGCCTATGCGCGGCAAGTGAG 0.443000 7 46 0 0 1 0 0 KNTC1 9735 broad.mit.edu 37 12 123087421 123087421 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:123087421C>G ENST00000333479.7 + 47 5048 c.4871C>G c.(4870-4872)tCg>tGg p.S1624W KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000537348.1_Missense_Mutation_p.S49W NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 1624 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) CTCTTAATTTCGAAATTAATG 0.333000 26 47 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119952798 119952798 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr4:119952798G>C ENST00000307142.4 + 4 3064 c.2868G>C c.(2866-2868)aaG>aaC p.K956N SYNPO2_ENST00000434046.2_Missense_Mutation_p.K956N|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.K956N NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 956 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 AAAAGGGAAAGAAACCCCTCA 0.502000 12 28 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 3 75 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207162057 207162057 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:207162057G>C ENST00000374423.3 + 4 534 c.148G>C c.(148-150)Gat>Cat p.D50H NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 50 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TTTCTTACAGGATGTACTGCA 0.378000 24 58 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33172768 33172768 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:33172768C>T ENST00000404816.2 + 1 730 c.377C>T c.(376-378)cCg>cTg p.P126L LTBP1_ENST00000354476.3_Missense_Mutation_p.P126L Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 126 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GGCGGCCACCCGGCAGCCGCC 0.751000 5 11 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156640349 156640349 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:156640349C>T ENST00000368223.3 - 4 3763 c.3631G>A c.(3631-3633)Gag>Aag p.E1211K NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1211 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ACATCCTCCTCAGCTTCCTCT 0.642000 39 60 0 0 1 0 0 USP40 55230 broad.mit.edu 37 2 234402138 234402138 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:234402138C>G ENST00000251722.6 - 25 2964 c.2847G>C c.(2845-2847)gaG>gaC p.E949D USP40_ENST00000450966.1_Missense_Mutation_p.E961D|USP40_ENST00000427112.2_Missense_Mutation_p.E949D|USP40_ENST00000409945.1_Missense_Mutation_p.E125D Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 949 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) CCTGATGACTCTCCCAGTGTC 0.517000 11 21 0 0 1 0 0 FER1L5 90342 broad.mit.edu 37 2 97368024 97368024 + RNA SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:97368024C>G ENST00000457909.1 + 0 4662 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 AGCAAAGCCTCAGAGCACAGT 0.557000 9 7 0 0 1 0 0 KCNH1 3756 broad.mit.edu 37 1 211192488 211192488 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:211192488G>A ENST00000367007.4 - 6 838 c.669C>T c.(667-669)atC>atT p.I223I KCNH1_ENST00000271751.4_Silent_p.I223I NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 223 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) AGATCAAGATGATCCAATCCC 0.458000 48 58 0 0 1 0 0 ASCC2 84164 broad.mit.edu 37 22 30186466 30186466 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr22:30186466G>A ENST00000397771.2 - 20 2271 c.2094C>T c.(2092-2094)gcC>gcT p.A698A ASCC2_ENST00000542393.1_Silent_p.A622A|ASCC2_ENST00000307790.3_Silent_p.A698A Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 2 698 regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) ACCCTTTCTTGGCGAGAAAGG 0.597000 4 29 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81746939 81746939 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:81746939C>T ENST00000550584.2 - 16 2248 c.1953G>A c.(1951-1953)atG>atA p.M651I PPFIA2_ENST00000549396.1_Missense_Mutation_p.M651I|PPFIA2_ENST00000443686.3_Missense_Mutation_p.M552I|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000541570.2_Missense_Mutation_p.M218I|PPFIA2_ENST00000333447.7_Missense_Mutation_p.M633I|PPFIA2_ENST00000552948.1_Missense_Mutation_p.M651I|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Missense_Mutation_p.M633I|PPFIA2_ENST00000548586.1_Missense_Mutation_p.M651I|PPFIA2_ENST00000550359.2_Missense_Mutation_p.M498I|PPFIA2_ENST00000407050.4_Missense_Mutation_p.M577I NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 577 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 CCTGAAGCATCATGGCTAGCG 0.378000 5 58 0 0 1 0 0 BSDC1 55108 broad.mit.edu 37 1 32841956 32841956 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:32841956C>G ENST00000341071.7 - 9 1125 c.1114G>C c.(1114-1116)Gag>Cag p.E372Q BSDC1_ENST00000446293.2_Missense_Mutation_p.E372Q|BSDC1_ENST00000419121.2_Missense_Mutation_p.E299Q|BSDC1_ENST00000526031.1_Missense_Mutation_p.E260Q|BSDC1_ENST00000455895.2_Missense_Mutation_p.E355Q|BSDC1_ENST00000413080.1_Missense_Mutation_p.E294Q|BSDC1_ENST00000449308.1_Missense_Mutation_p.E355Q Q9NW68 BSDC1_HUMAN BSD domain containing 1 355 protein binding breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CTCAGAGTCTCTACTCTGGCT 0.597000 40 82 0 0 1 0 0 PYROXD1 79912 broad.mit.edu 37 12 21621599 21621599 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:21621599G>C ENST00000538582.1 + 12 1954 c.1201G>C c.(1201-1203)Gaa>Caa p.E401Q PYROXD1_ENST00000240651.9_Missense_Mutation_p.E472Q Q8WU10 PYRD1_HUMAN pyridine nucleotide-disulphide oxidoreductase domain 1 472 oxidoreductase activity endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1) 18 AGAAACATTTGAAAACCTAAT 0.328000 13 26 0 0 1 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24931552 24931552 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:24931552G>A ENST00000289968.6 - 20 2614 c.2545C>T c.(2545-2547)Cgc>Tgc p.R849C ARHGAP17_ENST00000303665.5_Missense_Mutation_p.R771C|ARHGAP17_ENST00000441763.2_3'UTR NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 849 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) AAGATGCTGCGATGCGGTTCT 0.542000 36 57 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127645795 127645795 + Missense_Mutation SNP C C G rs148303505 TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr5:127645795C>G ENST00000508053.1 - 46 6054 c.5080G>C c.(5080-5082)Gat>Cat p.D1694H FBN2_ENST00000262464.4_Missense_Mutation_p.D1694H P35556 FBN2_HUMAN fibrillin 2 1694 EGF-like 28; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) AAACACTCATCAATATCTAGA 0.378000 10 44 0 0 1 0 0 SLC25A24 29957 broad.mit.edu 37 1 108724616 108724616 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:108724616G>A ENST00000565488.1 - 3 564 c.345C>T c.(343-345)ctC>ctT p.L115L SLC25A24_ENST00000370041.4_Silent_p.L96L NM_013386.4 NP_037518.3 Q6NUK1 SCMC1_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 115 EF-hand 3. transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211) Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134) CCAGTGTCTGGAGAGACTGGA 0.338000 15 27 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72829014 72829014 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:72829014G>A ENST00000268489.5 - 9 8239 c.7567C>T c.(7567-7569)Cta>Tta p.L2523L ZFHX3_ENST00000397992.5_Silent_p.L1609L NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2523 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TGAGGAGGTAGGTTTGCGAGC 0.582000 13 83 0 0 1 0 0 ABL2 27 broad.mit.edu 37 1 179089340 179089340 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:179089340G>A ENST00000502732.1 - 6 1233 c.1030C>T c.(1030-1032)Ctg>Ttg p.L344L ABL2_ENST00000507173.1_Silent_p.L323L|ABL2_ENST00000504405.1_Silent_p.L308L|ABL2_ENST00000367623.4_Silent_p.L323L|ABL2_ENST00000392043.3_Silent_p.L323L|ABL2_ENST00000408940.3_Silent_p.L308L|ABL2_ENST00000344730.3_Silent_p.L329L|ABL2_ENST00000512653.1_Silent_p.L329L|ABL2_ENST00000511413.1_Silent_p.L344L NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 344 Protein kinase. NL -> TI (in Ref. 8; no nucleotide entry). axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) AGTTGTACCAGATTAGGATGC 0.378000 T ETV6 AML 39 104 0 0 1 0 0 ZCCHC9 84240 broad.mit.edu 37 5 80608381 80608381 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr5:80608381G>A ENST00000254037.2 + 5 3871 c.716G>A c.(715-717)gGt>gAt p.G239D ZCCHC9_ENST00000380199.5_Missense_Mutation_p.G239D|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.G239D|ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000438268.2_Missense_Mutation_p.G239D Q8N567 ZCHC9_HUMAN zinc finger, CCHC domain containing 9 239 nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1) 13 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34) GTCACAGTTGGTCGCTGGGCA 0.363000 30 19 0 0 1 0 0 KIAA1614 57710 broad.mit.edu 37 1 180885771 180885771 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:180885771G>A ENST00000367588.4 + 2 587 c.532G>A c.(532-534)Gag>Aag p.E178K NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 178 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 CCCTGGACGTGAGTACTGCAA 0.642000 10 79 0 0 1 0 0 SLC38A11 151258 broad.mit.edu 37 2 165809275 165809275 + Translation_Start_Site SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:165809275C>G ENST00000303735.4 - 2 333 c.3G>C c.(1-3)atG>atC p.M1I SLC38A11_ENST00000409149.3_Start_Codon_SNP_p.M1I|SLC38A11_ENST00000409662.1_Start_Codon_SNP_p.M1I|SLC38A11_ENST00000409058.1_Intron NM_173512.2 NP_775783.1 Q08AI6 S38AB_HUMAN solute carrier family 38, member 11 1 amino acid transport|sodium ion transport integral to membrane endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 CAGCTTGCTTCATTGAATAAG 0.343000 31 46 0 0 1 0 0 RBM26 64062 broad.mit.edu 37 13 79911419 79911419 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr13:79911419G>A ENST00000438737.2 - 19 2991 c.2551C>T c.(2551-2553)Ctt>Ttt p.L851F RBM26_ENST00000267229.7_Missense_Mutation_p.L824F|RBM26_ENST00000438724.1_Missense_Mutation_p.L827F Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 851 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) CCAGATGAAAGAATCCCTCGT 0.517000 27 35 0 0 1 0 0 AGO4 192670 broad.mit.edu 37 1 36306946 36306946 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:36306946C>G ENST00000373210.3 + 14 2150 c.1905C>G c.(1903-1905)ctC>ctG p.L635L NM_017629.3 NP_060099.2 argonaute RISC catalytic component 4 AAGAGCTCCTCTACAGTCAAG 0.542000 20 28 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18305794 18305794 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr22:18305794C>T ENST00000441493.2 - 23 3578 c.3226G>A c.(3226-3228)Gtg>Atg p.V1076M NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1076 Glu-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) TCTGAGTCCACATCTTCCTCT 0.567000 12 20 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51613044 51613044 + Missense_Mutation SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:51613044G>T ENST00000371117.3 - 58 9645 c.9370C>A c.(9370-9372)Cat>Aat p.H3124N PKHD1_ENST00000340994.4_Missense_Mutation_p.H3124N NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3124 H -> Y (in ARPKD). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) AGACTTGAATGCGCCACATTG 0.483000 11 253 5.50884e-06 5.6091e-06 1 1 0 CHD3 1107 broad.mit.edu 37 17 7793025 7793025 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr17:7793025G>C ENST00000380358.4 + 2 322 c.321G>C c.(319-321)aaG>aaC p.K107N CHD3_ENST00000330494.7_Missense_Mutation_p.K48N|CHD3_ENST00000358181.4_Missense_Mutation_p.K48N NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 48 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) TGGGTGTGAAGAAGAGAAAAC 0.483000 7 13 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142640112 142640112 + Silent SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:142640112G>C ENST00000355265.2 - 17 2265 c.1791C>G c.(1789-1791)ctC>ctG p.L597L NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 597 L -> P (in KEL6/Js(a) antigen; dbSNP:rs8176038). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) TGTCACAGGCGAGGCAGCCCC 0.537000 19 45 0 0 1 0 0 COX7A2 1347 broad.mit.edu 37 6 75953512 75953512 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:75953512G>A ENST00000370081.2 - 2 345 c.35C>T c.(34-36)cCg>cTg p.P12L COX7A2_ENST00000230459.4_5'UTR|COX7A2_ENST00000370089.2_Missense_Mutation_p.P12L P14406 CX7A2_HUMAN cytochrome c oxidase subunit VIIa polypeptide 2 (liver) 0 mitochondrial respiratory chain cytochrome-c oxidase activity|electron carrier activity kidney(2)|lung(1) 3 TGGCCACGCCGGAACCGGAAC 0.522000 14 58 0 0 1 0 0 QDPR 5860 broad.mit.edu 37 4 17513587 17513587 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr4:17513587G>A ENST00000281243.5 - 1 270 c.91C>T c.(91-93)Cgg>Tgg p.R31W QDPR_ENST00000508623.1_Missense_Mutation_p.R31W|QDPR_ENST00000513615.1_Missense_Mutation_p.R31W|QDPR_ENST00000428702.2_Missense_Mutation_p.R31W NM_000320.2 NP_000311.2 P09417 DHPR_HUMAN quinoid dihydropteridine reductase 31 dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process cytosol 6,7-dihydropteridine reductase activity|binding|electron carrier activity p.R31R(1) autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 13 NADH(DB00157) TTGCGGGCCCGAAAAGCCTGC 0.731000 3 11 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27089533 27089533 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:27089533G>C ENST00000324856.7 + 8 2860 c.2489G>C c.(2488-2490)gGa>gCa p.G830A ARID1A_ENST00000457599.2_Missense_Mutation_p.G830A|ARID1A_ENST00000374152.2_Missense_Mutation_p.G447A NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 830 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GGCATGGCTGGAGGCATAAAC 0.582000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 11 33 0 0 1 0 0 UBQLN4 56893 broad.mit.edu 37 1 156020285 156020285 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:156020285C>G ENST00000368309.3 - 4 630 c.538G>C c.(538-540)Gag>Cag p.E180Q UBQLN4_ENST00000472638.1_Intron NM_020131.3 NP_064516.2 Q9NRR5 UBQL4_HUMAN ubiquilin 4 180 cytosol|endoplasmic reticulum membrane|nucleus identical protein binding NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2) 16 Hepatocellular(266;0.133)|all_neural(408;0.195) TGCTGCAGCTCCATGAAGTTG 0.592000 31 58 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61633172 61633172 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:61633172G>C ENST00000398571.2 - 3 299 c.223C>G c.(223-225)Caa>Gaa p.Q75E NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 75 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) CGGAGCACTTGAACTTGGGCA 0.383000 25 77 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27101300 27101300 + Nonsense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:27101300C>T ENST00000324856.7 + 18 4953 c.4582C>T c.(4582-4584)Cga>Tga p.R1528* ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R1145* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1528 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.R1528*(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TGGCGTGAACCGAACAGATGA 0.602000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 20 60 0 0 1 0 0 PNPT1 87178 broad.mit.edu 37 2 55863489 55863489 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:55863489C>G ENST00000447944.2 - 28 2321 c.2235G>C c.(2233-2235)atG>atC p.M745I NM_033109.3 NP_149100.2 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 745 S1 motif. mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GAGAAAGCCTCATTCTTCCAT 0.408000 12 29 0 0 1 0 0 RRM1 6240 broad.mit.edu 37 11 4123242 4123242 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:4123242C>T ENST00000300738.5 + 2 243 c.39C>T c.(37-39)gtC>gtT p.V13V RRM1_ENST00000423050.2_5'UTR NM_001033.3 NP_001024.1 P23921 RIR1_HUMAN ribonucleotide reductase M1 13 ATP-cone.|Allosteric activator binding (By similarity). deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex ATP binding|ribonucleoside-diphosphate reductase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2) 14 Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205) Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005) AAGAACGAGTCATGTTTGACA 0.318000 11 48 0 0 1 0 0 POLR2B 5431 broad.mit.edu 37 4 57889539 57889539 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr4:57889539G>C ENST00000381227.1 + 20 2972 c.2559G>C c.(2557-2559)ttG>ttC p.L853F POLR2B_ENST00000441246.2_Missense_Mutation_p.L846F|POLR2B_ENST00000314595.5_Missense_Mutation_p.L853F|POLR2B_ENST00000431623.2_Missense_Mutation_p.L778F P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 853 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) ATGATGGTTTGATAGCTCCAG 0.428000 10 39 0 0 1 0 0 TTLL7 79739 broad.mit.edu 37 1 84417601 84417601 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:84417601C>T ENST00000260505.8 - 3 461 c.84G>A c.(82-84)atG>atA p.M28I TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 28 cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) CTTTCCTTTTCATTGTGCTTT 0.353000 25 50 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37602916 37602916 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr21:37602916G>C ENST00000399151.3 + 14 1919 c.1834G>C c.(1834-1836)Gaa>Caa p.E612Q NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 612 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 AGTTTCTCTGGAAAGGGACGA 0.537000 14 69 0 0 1 0 0 CIB1 10519 broad.mit.edu 37 15 90774423 90774423 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:90774423C>G ENST00000328649.6 - 5 530 c.369G>C c.(367-369)ttG>ttC p.L123F NM_006384.3 NP_006375.2 Q99828 CIB1_HUMAN calcium and integrin binding 1 (calmyrin) 123 EF-hand 1. apoptosis|cell adhesion|double-strand break repair apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm calcium ion binding|protein binding lung(1)|prostate(1) 2 Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303) BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) CTTCTCTGTTCAAGGTTCCGT 0.562000 30 65 0 0 1 0 0 KIAA1199 57214 broad.mit.edu 37 15 81187357 81187357 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:81187357C>G ENST00000394685.3 + 11 1532 c.1113C>G c.(1111-1113)ctC>ctG p.L371L KIAA1199_ENST00000220244.3_Silent_p.L371L|KIAA1199_ENST00000356249.5_Silent_p.L371L Q8WUJ3 K1199_HUMAN KIAA1199 371 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 GAGTTAACCTCAGCACCGAGG 0.473000 21 57 0 0 1 0 0 LILRA6 79168 broad.mit.edu 37 19 54744749 54744749 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:54744749C>G ENST00000440558.2 - 5 961 c.913G>C c.(913-915)Gag>Cag p.E305Q LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.E305Q|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000396365.2_Missense_Mutation_p.E305Q|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.E305Q leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GCCGACCACTCGGAGGAGAGG 0.692000 13 106 0 0 1 0 0 SNRPB 6628 broad.mit.edu 37 20 2444494 2444494 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr20:2444494C>G ENST00000339610.6 - 5 537 c.82G>C c.(82-84)Ggc>Cgc p.G28R SNRPB_ENST00000381342.2_Missense_Mutation_p.G107R|SNRPB_ENST00000438552.2_Missense_Mutation_p.G107R P14678 RSMB_HUMAN small nuclear ribonucleoprotein polypeptides B and B1 107 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 10 GCAGCCCTGCCGATCCCTGGG 0.592000 19 69 0 0 1 0 0 FOXO3 2309 broad.mit.edu 37 6 108984779 108984779 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:108984779G>A ENST00000406360.1 + 2 1086 c.743G>A c.(742-744)cGg>cAg p.R248Q FOXO3_ENST00000540898.1_Missense_Mutation_p.R28Q|FOXO3_ENST00000343882.6_Missense_Mutation_p.R248Q NM_001455.3 NP_001446.1 O43524 FOXO3_HUMAN forkhead box O3 248 antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) AAAGCCCCCCGGCGGCGGGCT 0.587000 4 22 0 0 1 0 0 IL12RB1 3594 broad.mit.edu 37 19 18180504 18180504 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:18180504G>A ENST00000600835.2 - 11 1339 c.1041C>T c.(1039-1041)atC>atT p.I347I IL12RB1_ENST00000593993.2_Silent_p.I347I P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 Fibronectin type-III 4. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 TTCCGACGCTGATATTCAGAG 0.597000 54 22 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14399102 14399102 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr5:14399102G>C ENST00000344204.4 + 30 4561 c.4537G>C c.(4537-4539)Gaa>Caa p.E1513Q TRIO_ENST00000509967.2_Missense_Mutation_p.E1464Q|TRIO_ENST00000537187.1_Missense_Mutation_p.E1513Q NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 1513 PH 1. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) CTTCCTTTTTGAAATGTCCTT 0.398000 53 81 0 0 1 0 0 CTU1 90353 broad.mit.edu 37 19 51607326 51607326 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:51607326G>A ENST00000421832.2 - 2 545 c.501C>T c.(499-501)atC>atT p.I167I NM_145232.3 NP_660275.2 Q7Z7A3 CTU1_HUMAN cytosolic thiouridylase subunit 1 167 tRNA thio-modification|tRNA wobble uridine modification cytosol ATP binding|protein binding|transferase activity|tRNA binding large_intestine(2)|lung(1)|urinary_tract(1) 4 CACCTGTCACGATGTGCGTGG 0.716000 10 2 0 0 1 0 0 CXorf23 256643 broad.mit.edu 37 X 19984595 19984595 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:19984595G>A ENST00000379687.3 - 2 247 c.214C>T c.(214-216)Cag>Tag p.Q72* CXorf23_ENST00000379682.4_Nonsense_Mutation_p.Q72*|CXorf23_ENST00000356980.3_Nonsense_Mutation_p.Q72* NM_198279.3 NP_938020.2 A2AJT9 CX023_HUMAN chromosome X open reading frame 23 72 mitochondrion endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1) 11 TCATAAGACTGGTAATATATA 0.408000 45 103 0 0 1 0 0 SLC41A1 254428 broad.mit.edu 37 1 205764534 205764534 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:205764534C>G ENST00000367137.3 - 9 2159 c.1145G>C c.(1144-1146)gGa>gCa p.G382A SLC41A1_ENST00000468057.1_5'UTR NM_173854.4 NP_776253.3 Q8IVJ1 S41A1_HUMAN solute carrier family 41 (magnesium transporter), member 1 382 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 17 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0252) AGAGTTCTCTCCGGGCATTCC 0.607000 11 32 0 0 1 0 0 DTX3L 151636 broad.mit.edu 37 3 122288058 122288058 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:122288058G>C ENST00000296161.4 + 3 1311 c.1122G>C c.(1120-1122)atG>atC p.M374I DTX3L_ENST00000383661.3_Intron NM_138287.3 NP_612144.1 Q8TDB6 DTX3L_HUMAN deltex 3-like (Drosophila) 374 histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0459) CCAATTACATGATGAATGTAA 0.368000 38 68 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207679266 207679266 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:207679266G>C ENST00000367049.4 + 2 139 c.139G>C c.(139-141)Gaa>Caa p.E47Q CR1_ENST00000367051.1_Missense_Mutation_p.E47Q|CR1_ENST00000400960.2_Missense_Mutation_p.E47Q|CR1_ENST00000367053.1_Missense_Mutation_p.E47Q|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367052.1_Missense_Mutation_p.E47Q NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 47 Sushi 1. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CAATGCCCCAGAATGGCTTCC 0.428000 12 112 0 0 1 0 0 ZNF653 115950 broad.mit.edu 37 19 11594542 11594542 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:11594542G>A ENST00000293771.5 - 9 1939 c.1803C>T c.(1801-1803)gtC>gtT p.V601V CTC-398G3.6_ENST00000585656.1_Intron NM_138783.3 NP_620138.2 Q96CK0 ZN653_HUMAN zinc finger protein 653 601 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 17 TGTGGAACTTGACGCTGTCCA 0.607000 11 11 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30954637 30954637 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:30954637G>A ENST00000376296.3 + 2 926 c.685G>A c.(685-687)Gag>Aag p.E229K MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 229 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 CACCAACTCTGAGTCCAGCAC 0.627000 67 181 0 0 1 0 0 C9orf72 203228 broad.mit.edu 37 9 27548392 27548392 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr9:27548392G>C ENST00000380003.3 - 11 1351 c.1288C>G c.(1288-1290)Ctt>Gtt p.L430V C9orf72_ENST00000488117.1_5'UTR NM_001256054.1|NM_018325.3 NP_001242983.1|NP_060795.1 Q96LT7 CI072_HUMAN chromosome 9 open reading frame 72 430 breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1) 23 all_neural(11;7.57e-10) LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016) AGGTTCCGAAGAGATTTAAAG 0.318000 63 22 0 0 1 0 0 RASSF3 283349 broad.mit.edu 37 12 65085318 65085318 + Missense_Mutation SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr12:65085318G>T ENST00000542104.1 + 4 646 c.526G>T c.(526-528)Gac>Tac p.D176Y RASSF3_ENST00000336061.2_Missense_Mutation_p.D176Y NM_178169.3 NP_835463.1 Q86WH2 RASF3_HUMAN Ras association (RalGDS/AF-6) domain family member 3 176 Ras-associating. signal transduction cytoplasm|microtubule identical protein binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132) GBM - Glioblastoma multiforme(28;0.0611) GCCCAGAACAGACACACTTAG 0.443000 14 51 1.5739e-10 1.6441e-10 1 1 0 MAPKAPK3 7867 broad.mit.edu 37 3 50685381 50685381 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:50685381C>G ENST00000446044.1 + 13 1649 c.1053C>G c.(1051-1053)atC>atG p.I351M MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.I351M NM_001243926.1 NP_001230855.1 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated protein kinase 3 351 activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity p.I351I(1) central_nervous_system(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) AGGTGAAGATCAAGGACCTGA 0.552000 19 45 0 0 1 0 0 UPF1 5976 broad.mit.edu 37 19 18963051 18963051 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:18963051C>T ENST00000262803.5 + 6 1190 c.918C>T c.(916-918)ttC>ttT p.F306F UPF1_ENST00000599848.1_Silent_p.F306F|UPF1_ENST00000600310.1_3'UTR NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 306 Sufficient for interaction with RENT2. cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 AGAACATATTCGGGCCCCTGG 0.632000 50 26 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76532578 76532578 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:76532578C>G ENST00000307431.8 + 16 2734 c.2349C>G c.(2347-2349)ctC>ctG p.L783L CNTNAP4_ENST00000476707.1_Silent_p.L787L|CNTNAP4_ENST00000377504.4_Silent_p.L735L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.L711L NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 784 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GGCCTCTGCTCTGCCAGGGAG 0.413000 9 46 0 0 1 0 0 CLEC16A 23274 broad.mit.edu 37 16 11272295 11272295 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:11272295G>C ENST00000409790.1 + 24 3140 c.2910G>C c.(2908-2910)agG>agC p.R970S CLEC16A_ENST00000381822.2_Missense_Mutation_p.R57S NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 970 p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 ACGTGGCCAGGAGCGCAGCCG 0.627000 29 86 0 0 1 0 0 AQR 9716 broad.mit.edu 37 15 35155072 35155072 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr15:35155072C>G ENST00000156471.5 - 33 4250 c.4025G>C c.(4024-4026)aGa>aCa p.R1342T NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 1342 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) TCCTACCTTTCTAGTAGTTGG 0.388000 26 31 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34087923 34087923 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr20:34087923G>C ENST00000397527.1 + 28 4543 c.3823G>C c.(3823-3825)Gat>Cat p.D1275H CEP250_ENST00000342580.4_Missense_Mutation_p.D1219H NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 1275 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GCGTCTAACTGATACTGAGGC 0.512000 36 97 0 0 1 0 0 GPR50-AS1 100128688 broad.mit.edu 37 X 150345081 150345081 + RNA SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:150345081G>C ENST00000454196.1 - 0 541 CTGACTCTCAGAGAGGGAGGC 0.582000 7 22 0 0 1 0 0 SMG5 23381 broad.mit.edu 37 1 156237957 156237957 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:156237957C>G ENST00000361813.5 - 9 1001 c.857G>C c.(856-858)aGg>aCg p.R286T SMG5_ENST00000368267.5_Missense_Mutation_p.R286T NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 286 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) CACTAGCAACCTTTTAATGTC 0.468000 80 116 0 0 1 0 0 MSH5-SAPCD1 100532732 broad.mit.edu 37 6 31711711 31711711 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:31711711C>T ENST00000493662.2 + 6 502 c.446C>T c.(445-447)tCt>tTt p.S149F MSH5_ENST00000375740.3_Missense_Mutation_p.S149F|MSH5_ENST00000375750.3_Missense_Mutation_p.S149F|MSH5_ENST00000375742.3_Missense_Mutation_p.S149F|MSH5_ENST00000375755.3_Missense_Mutation_p.S149F|MSH5_ENST00000375703.3_Missense_Mutation_p.S149F|MSH5_ENST00000534153.4_Missense_Mutation_p.S149F|MSH5_ENST00000482280.1_3'UTR CGCCTCCTTTCTGGAAACTAC 0.458000 94 193 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72827194 72827194 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr16:72827194G>A ENST00000268489.5 - 9 10059 c.9387C>T c.(9385-9387)ctC>ctT p.L3129L ZFHX3_ENST00000397992.5_Silent_p.L2215L NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3129 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) AGGGGCTGTTGAGGCCCGGGA 0.547000 96 52 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167250742 167250742 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:167250742G>A ENST00000308378.3 - 8 1227 c.922C>T c.(922-924)Cta>Tta p.L308L WDR49_ENST00000476376.1_Silent_p.L133L|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Silent_p.L372L NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 308 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 TTGTTCCATAGAACAATTTCT 0.373000 18 27 0 0 1 0 0 FASTKD5 60493 broad.mit.edu 37 20 3129477 3129477 + Silent SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr20:3129477G>A ENST00000380266.3 - 2 561 c.240C>T c.(238-240)ttC>ttT p.F80F UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron NM_021826.4 NP_068598.1 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 80 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 AAGTCTTGCTGAATTCCAAAC 0.478000 13 39 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71209105 71209105 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr14:71209105C>T ENST00000554752.2 - 6 1529 c.1530G>A c.(1528-1530)ctG>ctA p.L510L MAP3K9_ENST00000554146.1_Silent_p.L247L|MAP3K9_ENST00000555993.2_Silent_p.L510L|MAP3K9_ENST00000381250.4_Silent_p.L510L|MAP3K9_ENST00000553414.1_Silent_p.L204L NM_001284230.1 NP_001271159.1 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 510 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CCTTGAGCTTCAGCCGGCTCT 0.592000 21 52 0 0 1 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156638326 156638326 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr4:156638326G>A ENST00000296518.7 + 8 1797 c.1588G>A c.(1588-1590)Gat>Aat p.D530N GUCY1A3_ENST00000513574.1_Missense_Mutation_p.D530N|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.D272N|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.D530N|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.D530N|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.D530N|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.D530N Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 530 Guanylate cyclase. GDAYCVA -> AMPIVWL (in Ref. 1; CAA47145). blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) GACCATTGGCGATGCCTATTG 0.408000 15 55 0 0 1 0 0 CEP85 64793 broad.mit.edu 37 1 26570761 26570761 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:26570761G>A ENST00000252992.4 + 3 291 c.160G>A c.(160-162)Gac>Aac p.D54N CEP85_ENST00000451429.2_Intron NM_001281517.1|NM_022778.2 NP_001268446.1|NP_073615.2 Q6P2H3 CEP85_HUMAN centrosomal protein 85kDa 54 centrosome|nucleolus|spindle pole breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2) 25 AAGTGTAGCCGACAGTGGGGA 0.483000 8 32 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46263969 46263969 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr4:46263969C>T ENST00000510861.1 - 9 1206 c.1033G>A c.(1033-1035)Gat>Aat p.D345N GABRA2_ENST00000514090.1_Missense_Mutation_p.D345N|GABRA2_ENST00000356504.1_Missense_Mutation_p.D345N|GABRA2_ENST00000381620.4_Missense_Mutation_p.D345N|GABRA2_ENST00000507069.1_Missense_Mutation_p.D345N|GABRA2_ENST00000515082.1_Missense_Mutation_p.D345N|GABRA2_ENST00000540012.1_Missense_Mutation_p.D290N P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 345 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTCTTCCCATCCCAAGCCCAT 0.378000 10 36 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149489793 149489793 + RNA SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:149489793G>A ENST00000378016.2 + 0 5849 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CGCCAGTGCCGTGGCATCCAC 0.692000 8 17 0 0 1 0 0 ZNF81 347344 broad.mit.edu 37 X 47774577 47774577 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chrX:47774577C>T ENST00000376954.1 + 6 900 c.532C>T c.(532-534)Cca>Tca p.P178S ZNF81_ENST00000338637.7_Missense_Mutation_p.P178S P51508 ZNF81_HUMAN zinc finger protein 81 178 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(1)|lung(1)|skin(1) 4 all_lung(315;0.0973) ATTTGTTCATCCAAGCCCAAA 0.313000 15 35 0 0 1 0 0 GNB1 2782 broad.mit.edu 37 1 1737960 1737960 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:1737960G>A ENST00000378609.4 - 6 552 c.221C>T c.(220-222)tCg>tTg p.S74L NM_001282539.1|NM_002074.3 NP_001269468.1|NP_002065.1 P62873 GBB1_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 1 74 cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission heterotrimeric G-protein complex GTPase activity|GTPase binding|signal transducer activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 12 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236) ACCATCCTGCGAGGCACTGAC 0.483000 4 18 0 0 1 0 0 ZC3H13 23091 broad.mit.edu 37 13 46594629 46594629 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr13:46594629G>A ENST00000242848.4 - 5 751 c.403C>T c.(403-405)Cca>Tca p.P135S ZC3H13_ENST00000282007.3_Missense_Mutation_p.P135S Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 135 nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TCACTTTCTGGAGTTCTTTCC 0.313000 5 35 0 0 1 0 0 RALY 22913 broad.mit.edu 37 20 32664968 32664968 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr20:32664968G>A ENST00000375114.3 + 7 1323 c.745G>A c.(745-747)Gag>Aag p.E249K RALY_ENST00000246194.3_Missense_Mutation_p.E265K NM_007367.3 NP_031393.2 Q9UKM9 RALY_HUMAN RALY heterogeneous nuclear ribonucleoprotein 265 Epitope (recognized by BKRF1 antibodies).|Poly-Gly. catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex nucleotide binding|RNA binding kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 CACAACTTCTGAGGCAGGCCT 0.711000 8 48 0 0 1 0 0 AIP 9049 broad.mit.edu 37 11 67250653 67250653 + Silent SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr11:67250653C>G ENST00000279146.3 + 1 142 c.24C>G c.(22-24)ctC>ctG p.L8L NM_003977.2 NP_003968.2 O00170 AIP_HUMAN aryl hydrocarbon receptor interacting protein 8 protein maturation by protein folding|protein targeting to mitochondrion nucleus signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2) 7 TCGCAAGACTCCGGGAGGACG 0.582000 Familial Isolated Pituitary Adenoma 10 32 0 0 1 0 0 SLC32A1 140679 broad.mit.edu 37 20 37353605 37353605 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr20:37353605G>A ENST00000217420.1 + 1 501 c.238G>A c.(238-240)Gag>Aag p.E80K NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 80 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) AGCGCCCGTCGAGGGAGACAT 0.662000 8 25 0 0 1 0 0 SENP7 57337 broad.mit.edu 37 3 101212742 101212742 + Nonsense_Mutation SNP G G C rs138298776 TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr3:101212742G>C ENST00000394095.2 - 3 214 c.161C>G c.(160-162)tCa>tGa p.S54* SENP7_ENST00000394094.2_Nonsense_Mutation_p.S54*|SENP7_ENST00000358203.3_Nonsense_Mutation_p.S21*|SENP7_ENST00000348610.3_Nonsense_Mutation_p.S21*|SENP7_ENST00000314261.7_Nonsense_Mutation_p.S54*|SENP7_ENST00000394091.1_Nonsense_Mutation_p.S21* NM_001282802.1|NM_020654.3 NP_001269731.1|NP_065705.3 Q9BQF6 SENP7_HUMAN SUMO1/sentrin specific peptidase 7 54 proteolysis nucleus cysteine-type peptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CCAGCGTTCTGAGCTTCTGAA 0.299000 27 60 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215813322 215813322 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:215813322C>G ENST00000272895.7 - 47 7321 c.7102G>C c.(7102-7104)Gaa>Caa p.E2368Q ABCA12_ENST00000389661.4_Missense_Mutation_p.E2050Q|AC072062.1_ENST00000607412.1_RNA NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 2368 ABC transporter 2. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GTACTCACTTCTTTAATATCC 0.433000 8 24 0 0 1 0 0 BABAM1 29086 broad.mit.edu 37 19 17379718 17379718 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr19:17379718G>A ENST00000359435.4 + 2 296 c.103G>A c.(103-105)Gag>Aag p.E35K BABAM1_ENST00000601043.1_Missense_Mutation_p.E35K|BABAM1_ENST00000448635.2_3'UTR|BABAM1_ENST00000447614.2_Missense_Mutation_p.E35K|BABAM1_ENST00000598188.1_Missense_Mutation_p.E35K|CTD-2278I10.6_ENST00000596542.1_5'UTR|BABAM1_ENST00000595632.1_Missense_Mutation_p.E35K NM_001033549.1 NP_001028721.1 Q9NWV8 BABA1_HUMAN BRISC and BRCA1 A complex member 1 35 chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation BRCA1-A complex|BRISC complex|cytoplasm protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 TGAAGGGGCTGAGGACCGGGC 0.672000 6 1 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11562905 11562905 + Frame_Shift_Del DEL C C - TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr1:11562905delC ENST00000294484.6 + 3 1405 c.1267delC c.(1267-1269)cagfs p.Q423fs PTCHD2_ENST00000389575.3_Frame_Shift_Del_p.Q423fs NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 423 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GGCTAAGTTTCAGAGCTTCGT 0.542 10 49 --- --- --- --- PNKD 25953 broad.mit.edu 37 2 219209216 219209218 + In_Frame_Del DEL GTG GTG - TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr2:219209216_219209218delGTG ENST00000273077.4 + 9 958_960 c.907_909delGTG c.(907-909)gtgdel p.V304del AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000258362.3_In_Frame_Del_p.V280del|PNKD_ENST00000436005.2_In_Frame_Del_p.V244del NM_015488.4 NP_056303.3 Q8N490 PNKD_HUMAN paroxysmal nonkinesigenic dyskinesia 304 membrane|mitochondrion|nucleus hydroxyacylglutathione hydrolase activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 10 Renal(207;0.0474) Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTTTGCAGGTGTGGTGGAGCCCG 0.616 2 4 --- --- --- --- ZNRD1-AS1 80862 broad.mit.edu 37 6 29975230 29975243 + RNA DEL CGGATACCGCGGCT CGGATACCGCGGCT - TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr6:29975230_29975243delCGGATACCGCGGCT ENST00000376797.3 - 0 1172 ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA TGGACCGCCGCGGATACCGCGGCTCAGATTACCC 0.640 9 32 --- --- --- --- ATP6V0E2 155066 broad.mit.edu 37 7 149576569 149576570 + In_Frame_Ins INS - - AGTCTTCCC TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr7:149576569_149576570insAGTCTTCCC ENST00000421974.2 + 3 1396_1397 c.445_446insAGTCTTCCC c.(445-447)aag>aAGTCTTCCCag p.155_156insSSQ ATP6V0E2_ENST00000606024.1_In_Frame_Ins_p.106_107insSSQ|ATP6V0E2_ENST00000479613.1_In_Frame_Ins_p.129_130insSSQ|ATP6V0E2_ENST00000456496.2_3'UTR|ATP6V0E2_ENST00000425642.2_3'UTR|ATP6V0E2-AS1_ENST00000464939.1_RNA|ATP6V0E2_ENST00000495408.1_3'UTR NM_001100592.1 NP_001094062.1 Q8NHE4 VA0E2_HUMAN ATPase, H+ transporting V0 subunit e2 0 ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity lung(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.00256) TGGTTCCTGGAAGTCTTCCCAG 0.673 3 5 --- --- --- --- TPTE2P1 646405 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 3 3 --- --- --- --- SNHG24 101929369 broad.mit.edu 37 14 101438564 101438564 + RNA DEL A A - TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c28dc94-0858-4791-858d-ae3ee12b4969 f8237edf-efc1-4fe6-a91e-b0e1c78f2a5a g.chr14:101438564delA ENST00000554693.2 + 0 299 TATCTAGTTTAAAAAAAATCA 0.398 7 14 --- --- --- ---