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 APOB 338 broad.mit.edu 37 2 21231727 21231727 + Missense_Mutation SNP C C A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr2:21231727C>A ENST00000233242.1 - 26 8140 c.8013G>T c.(8011-8013)aaG>aaT p.K2671N NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2671 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) TTCTGATGATCTTTACTTTCA 0.418000 18 137 2.35188e-11 2.77469e-11 1 1 0 SPTB 6710 broad.mit.edu 37 14 65264532 65264532 + Missense_Mutation SNP A A C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr14:65264532A>C ENST00000389722.3 - 9 1150 c.1097T>G c.(1096-1098)cTt>cGt p.L366R SPTB_ENST00000389720.3_Missense_Mutation_p.L366R|SPTB_ENST00000542895.1_Missense_Mutation_p.L366R|SPTB_ENST00000389721.5_Missense_Mutation_p.L366R|SPTB_ENST00000556626.1_Missense_Mutation_p.L366R NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 366 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 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) GATGGTAAAAAGTAGAACTTC 0.423000 8 94 0 0 1 0 0 STK38L 23012 broad.mit.edu 37 12 27468247 27468247 + Silent SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr12:27468247G>A ENST00000389032.3 + 9 970 c.801G>A c.(799-801)agG>agA p.R267R STK38L_ENST00000539577.1_Silent_p.R174R NM_015000.3 NP_055815.1 Q9Y2H1 ST38L_HUMAN serine/threonine kinase 38 like 267 Protein kinase. intracellular protein kinase cascade|regulation of cellular component organization actin cytoskeleton|cytoplasm actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 Colorectal(261;0.0847) ACTCAAAGAGGAAAGCAGAAA 0.338000 11 35 0 0 1 0 0 IGLV3-27 28791 broad.mit.edu 37 22 23010828 23010828 + RNA SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr22:23010828C>T ENST00000390304.2 + 0 71 TCCCCCTCCTCATTCTCTGCA 0.612000 4 8 0 0 1 0 0 ZBTB14 7541 broad.mit.edu 37 18 5291781 5291781 + Silent SNP A A G TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr18:5291781A>G ENST00000357006.4 - 4 764 c.426T>C c.(424-426)agT>agC p.S142S ZBTB14_ENST00000400143.3_Silent_p.S142S NM_001143823.2|NM_001243704.1 NP_001137295.1|NP_001230633.1 zinc finger and BTB domain containing 14 GGCAATACTTACTTTTGGACT 0.448000 22 95 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10438615 10438615 + Missense_Mutation SNP G G C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr17:10438615G>C ENST00000245503.5 - 18 2426 c.2042C>G c.(2041-2043)cCc>cGc p.P681R MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.P681R|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 681 Actin-binding (By similarity).|Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TGTCTCATTGGGGATGATACA 0.413000 9 31 0 0 1 0 0 B3GNT5 84002 broad.mit.edu 37 3 182987743 182987743 + Missense_Mutation SNP A A C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr3:182987743A>C ENST00000326505.3 + 2 687 c.157A>C c.(157-159)Aat>Cat p.N53H MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.N53H|MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.N53H|MCF2L2_ENST00000328913.3_Intron NM_032047.4 NP_114436.1 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 53 central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) ATACCTCATAAATAGCTATGA 0.398000 19 101 0 0 1 0 0 APOBEC3G 60489 broad.mit.edu 37 22 39482340 39482340 + Silent SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr22:39482340C>T ENST00000407997.3 + 6 1149 c.792C>T c.(790-792)gaC>gaT p.D264D APOBEC3G_ENST00000452957.2_Silent_p.D264D NM_021822.3 NP_068594.1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1) 12 Melanoma(58;0.04) GCTTCCTGGACGTGATTCCCT 0.498000 8 86 0 0 1 0 0 ECEL1 9427 broad.mit.edu 37 2 233348831 233348831 + Missense_Mutation SNP C C G TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr2:233348831C>G ENST00000304546.1 - 7 1497 c.1287G>C c.(1285-1287)gaG>gaC p.E429D ECEL1_ENST00000409941.1_Missense_Mutation_p.E429D NM_004826.2 NP_004817.2 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 429 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) TGTCGCTGCCCTCCATCTCCT 0.627000 4 94 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946434 16946434 + RNA SNP C C T rs367060 TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr1:16946434C>T ENST00000412962.1 - 0 1085 CTCAGCCTTCCGCCGGGCCAG 0.672000 8 25 0 0 1 0 0 UBA3 9039 broad.mit.edu 37 3 69105055 69105055 + Splice_Site SNP G G T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr3:69105055G>T ENST00000361055.4 - 17 1304 c.1248_splice c.e17-1 p.S417_splice UBA3_ENST00000415609.2_Splice_Site_p.S376_splice|CTD-2013N24.2_ENST00000595925.1_RNA|UBA3_ENST00000349511.4_Splice_Site_p.S403_splice|UBA3_ENST00000540295.1_Splice_Site_p.S240_splice NM_003968.3 NP_003959.3 Q8TBC4 UBA3_HUMAN ubiquitin-like modifier activating enzyme 3 417 Interaction with UBE2M core domain. protein neddylation|proteolysis nucleus acid-amino acid ligase activity|ATP binding|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241) AGAGGTTACCGACTAGAAAAC 0.264000 15 43 6.31663e-08 7.20919e-08 1 1 0 ATP13A5 344905 broad.mit.edu 37 3 193007714 193007714 + Missense_Mutation SNP C C A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr3:193007714C>A ENST00000342358.4 - 26 3100 c.2983G>T c.(2983-2985)Gtg>Ttg p.V995L ATP13A5_ENST00000495496.1_5'UTR NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 995 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TGCTGCTTCACATAGAGAAAT 0.388000 12 37 9.31168e-06 1.02919e-05 1 1 0 DSCAML1 57453 broad.mit.edu 37 11 117376424 117376424 + Missense_Mutation SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr11:117376424C>T ENST00000321322.6 - 9 1988 c.1987G>A c.(1987-1989)Gaa>Aaa p.E663K DSCAML1_ENST00000527706.1_Missense_Mutation_p.E393K NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 603 Ig-like C2-type 7. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GGTGGGAATTCGAAGGGCTGG 0.637000 7 39 0 0 1 0 0 SLC6A6 6533 broad.mit.edu 37 3 14508054 14508054 + Missense_Mutation SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr3:14508054G>A ENST00000454876.2 + 7 1092 c.763G>A c.(763-765)Gcc>Acc p.A255T SLC6A6_ENST00000360861.3_Missense_Mutation_p.A255T P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter transporter), member 6 255 cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2) 28 TTTTCCATTCGCCATGCTCCT 0.597000 33 78 0 0 1 0 0 CUL4A 8451 broad.mit.edu 37 13 113888215 113888215 + Missense_Mutation SNP A A G TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr13:113888215A>G ENST00000451881.1 + 7 629 c.380A>G c.(379-381)tAt>tGt p.Y127C CUL4A_ENST00000375441.3_Missense_Mutation_p.Y127C|CUL4A_ENST00000326335.4_Missense_Mutation_p.Y127C|CUL4A_ENST00000375440.4_Missense_Mutation_p.Y227C NM_001278513.1|NM_003589.2 NP_001265442.1|NP_003580.1 Q13619 CUL4A_HUMAN cullin 4A 227 cell cycle arrest|DNA repair|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 Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1) 17 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) TCTTAGGTGTATAAAGATTCA 0.413000 11 33 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42046795 42046795 + Missense_Mutation SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr1:42046795G>A ENST00000372584.1 - 3 4688 c.3674C>T c.(3673-3675)cCc>cTc p.P1225L HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1225L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1225L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1225L NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1225 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) GTATGGCATGGGGAGGAAGGA 0.587000 13 105 0 0 1 0 0 GPAT2 150763 broad.mit.edu 37 2 96690048 96690048 + Silent SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr2:96690048C>T ENST00000434632.1 - 17 2166 c.1707G>A c.(1705-1707)ccG>ccA p.P569P GPAT2_ENST00000359548.4_Silent_p.P569P|GPAT2_ENST00000377137.3_Silent_p.P569P|GPAT2_ENST00000453542.1_Silent_p.P498P Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, mitochondrial 569 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3) 16 GCCCCTGGGGCGGCACTCTGC 0.642000 5 24 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160067536 160067536 + Missense_Mutation SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr5:160067536C>T ENST00000327245.5 - 10 1778 c.932G>A c.(931-933)cGg>cAg p.R311Q NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 311 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATTCATGCGCCGCTCAATCTT 0.478000 44 127 0 0 1 0 0 FOSL2 2355 broad.mit.edu 37 2 28631664 28631664 + Silent SNP G G C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr2:28631664G>C ENST00000264716.4 + 3 1256 c.393G>C c.(391-393)cgG>cgC p.R131R FOSL2_ENST00000379619.1_Silent_p.R106R|FOSL2_ENST00000545753.1_Silent_p.R92R|FOSL2_ENST00000460736.1_3'UTR NM_005253.3 NP_005244.1 P15408 FOSL2_HUMAN FOS-like antigen 2 131 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155) GCATCCGGCGGGAGAGGAACA 0.562000 3 32 0 0 1 0 0 CYTIP 9595 broad.mit.edu 37 2 158300475 158300475 + Missense_Mutation SNP C C A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr2:158300475C>A ENST00000264192.3 - 1 179 c.58G>T c.(58-60)Gct>Tct p.A20S CYTIP_ENST00000497432.1_Intron|CYTIP_ENST00000540637.1_Intron NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 20 regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 GCTGGCCCAGCGCAGAAGTCC 0.507000 21 68 2.89027e-11 3.39082e-11 1 1 0 FAM173B 134145 broad.mit.edu 37 5 10239183 10239183 + Missense_Mutation SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr5:10239183C>T ENST00000511437.1 - 2 314 c.302G>A c.(301-303)cGc>cAc p.R101H FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Missense_Mutation_p.R101H NM_199133.3 NP_954584.2 Q6P4H8 F173B_HUMAN family with sequence similarity 173, member B 101 integral to membrane p.R101L(1)|p.R101H(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 16 ACTCACAATGCGTCCGTCCCC 0.398000 13 78 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 4 53 0 0 1 0 0 CTBS 1486 broad.mit.edu 37 1 85029038 85029038 + Missense_Mutation SNP G G A rs77922958 by1000genomes TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr1:85029038G>A ENST00000370630.4 - 6 907 c.859C>T c.(859-861)Cgt>Tgt p.R287C CTBS_ENST00000477677.1_5'UTR NM_004388.2 NP_004379.1 Q01459 DIAC_HUMAN chitobiase, di-N-acetyl- 287 lysosome cation binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 9 all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166) GGCACCTGACGTCCTGCAGCG 0.403000 4 51 0 0 1 0 0 EBF3 253738 broad.mit.edu 37 10 131755566 131755566 + Silent SNP A A G TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr10:131755566A>G ENST00000368648.3 - 6 582 c.510T>C c.(508-510)tgT>tgC p.C170C EBF3_ENST00000355311.5_Silent_p.C170C NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 170 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) TTCTATTGCCACAACTTTTCT 0.388000 8 78 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35957444 35957444 + Silent SNP A A G TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr5:35957444A>G ENST00000274278.3 - 5 1278 c.921T>C c.(919-921)caT>caC p.H307H UGT3A1_ENST00000507113.1_Silent_p.H273H|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Silent_p.H307H NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 307 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCTGGGACTGATGGGTGTTCA 0.488000 7 63 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44063001 44063001 + Missense_Mutation SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr22:44063001C>T ENST00000262726.7 - 17 2219 c.1966G>A c.(1966-1968)Gtg>Atg p.V656M EFCAB6_ENST00000396231.2_Missense_Mutation_p.V504M NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 656 EF-hand 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) AAGTCATGCACGTTAATTTTT 0.373000 14 65 0 0 1 0 0 MFSD8 256471 broad.mit.edu 37 4 128878731 128878731 + Missense_Mutation SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr4:128878731C>T ENST00000296468.3 - 3 206 c.79G>A c.(79-81)Gag>Aag p.E27K MFSD8_ENST00000541133.1_5'UTR|MFSD8_ENST00000513559.1_5'UTR|MFSD8_ENST00000515130.1_5'UTR NM_152778.2 NP_689991.1 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 8 27 cell death|transmembrane transport integral to membrane|lysosomal membrane cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1) 23 TCTTCAGTCTCTAAAATGTCC 0.299000 20 38 0 0 1 0 0 STX17 55014 broad.mit.edu 37 9 102722405 102722405 + Nonsense_Mutation SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr9:102722405C>T ENST00000259400.6 + 6 686 c.550C>T c.(550-552)Caa>Taa p.Q184* STX17_ENST00000534052.1_Nonsense_Mutation_p.Q184*|STX17_ENST00000525847.1_3'UTR|STX17_ENST00000525640.1_Nonsense_Mutation_p.Q184* NM_017919.2 NP_060389.2 P56962 STX17_HUMAN syntaxin 17 184 t-SNARE coiled-coil homology. intracellular protein transport|vesicle-mediated transport endoplasmic reticulum|integral to membrane|nucleolus SNAP receptor activity endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) TGAACTTAGCCAACTGGTCAC 0.333000 12 60 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29107975 29107975 + Silent SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr22:29107975G>A ENST00000544772.1 - 7 1487 c.51C>T c.(49-51)ttC>ttT p.F17F CHEK2_ENST00000328354.6_Silent_p.F238F|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000382580.2_Silent_p.F281F|CHEK2_ENST00000382578.1_Silent_p.F147F|CHEK2_ENST00000382566.1_Silent_p.F238F|CHEK2_ENST00000405598.1_Silent_p.F238F|CHEK2_ENST00000403642.1_Silent_p.F147F|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Silent_p.F238F|CHEK2_ENST00000348295.3_Silent_p.F238F|CHEK2_ENST00000402731.1_Silent_p.F238F NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 238 A -> S (in an osteogenic sarcoma sample; somatic mutation; might influence susceptibility to breast cancer; does not cause protein abrogation in familial colorectal cancer). cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 TTTTCCTCTCGAAAGCCAGCT 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 5 49 0 0 1 0 0 GMNN 51053 broad.mit.edu 37 6 24781711 24781711 + Missense_Mutation SNP G G T rs150391376 TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr6:24781711G>T ENST00000230056.3 + 4 468 c.136G>T c.(136-138)Gca>Tca p.A46S GMNN_ENST00000356509.3_Missense_Mutation_p.A46S NM_015895.4 NP_056979.1 O75496 GEMI_HUMAN geminin, DNA replication inhibitor 46 M/G1 transition of mitotic cell cycle|negative regulation of cell cycle|negative regulation of DNA replication|negative regulation of transcription, DNA-dependent cytosol|nucleoplasm histone deacetylase binding endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 10 ATAGCTGTCCGCAGGCTTGTC 0.343000 7 29 0.000157383 0.000168625 1 1 0 OC90 729330 broad.mit.edu 37 8 133044222 133044222 + Missense_Mutation SNP A A T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr8:133044222A>T ENST00000262283.5 - 16 1672 c.1573T>A c.(1573-1575)Ttt>Att p.F525I OC90_ENST00000603859.1_Missense_Mutation_p.F313I|OC90_ENST00000254627.3_Missense_Mutation_p.F313I|OC90_ENST00000443356.2_Missense_Mutation_p.F329I Q02509 OC90_HUMAN otoconin 90 329 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) GTCAGACAAAAGAGCATCTCT 0.522000 11 147 0 0 1 0 0 POSTN 10631 broad.mit.edu 37 13 38164660 38164660 + Missense_Mutation SNP G G T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr13:38164660G>T ENST00000379747.4 - 4 407 c.290C>A c.(289-291)cCc>cAc p.P97H POSTN_ENST00000541481.1_Missense_Mutation_p.P97H|POSTN_ENST00000379743.4_Missense_Mutation_p.P97H|POSTN_ENST00000379749.4_Missense_Mutation_p.P97H|POSTN_ENST00000541179.1_Missense_Mutation_p.P97H|POSTN_ENST00000379742.4_Missense_Mutation_p.P97H NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 97 FAS1 1. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) ATGGTCAATGGGCAAAACTGA 0.428000 8 19 3.86212e-05 4.20231e-05 1 1 0 ALDH1A2 8854 broad.mit.edu 37 15 58254324 58254324 + Silent SNP C C G rs141958697 TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr15:58254324C>G ENST00000249750.4 - 10 1904 c.1137G>C c.(1135-1137)gtG>gtC p.V379V ALDH1A2_ENST00000537372.1_Silent_p.V358V|ALDH1A2_ENST00000559517.1_Silent_p.V283V|ALDH1A2_ENST00000558231.1_Silent_p.V350V|ALDH1A2_ENST00000347587.3_Silent_p.V341V NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 379 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CGCCCTCAGCCACACCACTCT 0.458000 19 49 0 0 1 0 0 CCDC50 152137 broad.mit.edu 37 3 191098047 191098047 + Missense_Mutation SNP A A T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr3:191098047A>T ENST00000392455.3 + 6 1146 c.548A>T c.(547-549)cAa>cTa p.Q183L CCDC50_ENST00000392456.3_Missense_Mutation_p.Q359L NM_174908.3 NP_777568.1 Q8IVM0 CCD50_HUMAN coiled-coil domain containing 50 183 cytoplasm protein binding endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1) 23 all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000136) AGAAAACTGCAAGAAGAAGAA 0.358000 8 27 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131190864 131190864 + Nonsense_Mutation SNP C C A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr6:131190864C>A ENST00000337057.3 - 15 2627 c.2446G>T c.(2446-2448)Gaa>Taa p.E816* EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000524581.1_Nonsense_Mutation_p.E194*|EPB41L2_ENST00000529208.1_Nonsense_Mutation_p.E746*|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000527411.1_Nonsense_Mutation_p.E746*|EPB41L2_ENST00000368128.2_Nonsense_Mutation_p.E816*|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000525193.1_Intron NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 816 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) CCTACATTTTCCTGGATCACT 0.527000 55 242 2.12129e-23 2.66748e-23 1 1 0 HNF4G 3174 broad.mit.edu 37 8 76472624 76472624 + Missense_Mutation SNP A A G TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr8:76472624A>G ENST00000396423.2 + 9 1263 c.1139A>G c.(1138-1140)cAt>cGt p.H380R HNF4G_ENST00000354370.1_Missense_Mutation_p.H343R NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 343 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) ATGCATCCACATTTGTCTCAA 0.388000 5 39 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35835331 35835331 + Missense_Mutation SNP C C G TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr3:35835331C>G ENST00000187397.4 + 20 2776 c.2320C>G c.(2320-2322)Cag>Gag p.Q774E ARPP21_ENST00000444190.1_Missense_Mutation_p.Q755E|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000337271.5_Missense_Mutation_p.Q755E|ARPP21_ENST00000458225.1_Missense_Mutation_p.Q775E|ARPP21_ENST00000417925.1_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 16 67 0 0 1 0 0 TJP2 9414 broad.mit.edu 37 9 71835869 71835869 + Missense_Mutation SNP G G T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr9:71835869G>T ENST00000377245.4 + 5 617 c.409G>T c.(409-411)Gac>Tac p.D137Y TJP2_ENST00000539225.1_Missense_Mutation_p.D168Y|TJP2_ENST00000453658.2_Missense_Mutation_p.D114Y|TJP2_ENST00000348208.4_Missense_Mutation_p.D137Y|TJP2_ENST00000535702.1_Missense_Mutation_p.D141Y|TJP2_ENST00000265384.7_Missense_Mutation_p.D137Y NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 137 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 GGATCAGGATGACCGGGCTTT 0.612000 4 18 0.00024832 0.000264707 1 1 0 ICOSLG 23308 broad.mit.edu 37 21 45656849 45656849 + Missense_Mutation SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr21:45656849C>T ENST00000407780.3 - 3 434 c.307G>A c.(307-309)Gtc>Atc p.V103I ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000400379.3_Missense_Mutation_p.V103I|ICOSLG_ENST00000344330.4_Missense_Mutation_p.V103I O75144 ICOSL_HUMAN inducible T-cell co-stimulator ligand 103 Ig-like V-type. B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation receptor binding endometrium(2)|lung(1)|stomach(1)|urinary_tract(1) 5 Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772) TGGGGGGTGACGTTGAACAAG 0.597000 43 92 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13814732 13814732 + Silent SNP A A G TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr5:13814732A>G ENST00000265104.4 - 43 7316 c.7212T>C c.(7210-7212)gaT>gaC p.D2404D NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2404 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TAGGACTCCAATCAAGGATAG 0.363000 Kartagener syndrome 5 32 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971208 21971208 + Splice_Site SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr9:21971208C>T ENST00000579755.1 - 2 486 c.e2-1 CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000578845.2_5'UTR|CDKN2A_ENST00000446177.1_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(38)|p.0(1)|p.V28_V51del(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCATCATGACCTGCCAGAGAG 0.667000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 4 13 0 0 1 0 0 AKR1B10 57016 broad.mit.edu 37 7 134221420 134221420 + Missense_Mutation SNP G G C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr7:134221420G>C ENST00000359579.4 + 5 768 c.448G>C c.(448-450)Gat>Cat p.D150H AKR1B10_ENST00000475559.1_Intron NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) 150 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 GGAGCTGGTGGATGAGGGGCT 0.517000 7 79 0 0 1 0 0 CNNM2 54805 broad.mit.edu 37 10 104679569 104679569 + Missense_Mutation SNP G G T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr10:104679569G>T ENST00000369878.3 + 1 1456 c.1332G>T c.(1330-1332)aaG>aaT p.K444N CNNM2_ENST00000457502.2_Missense_Mutation_p.K202N|CNNM2_ENST00000369875.3_Missense_Mutation_p.K444N|CNNM2_ENST00000433628.2_Missense_Mutation_p.K444N NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 444 ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) TCCGCACCAAGACGGTGGAGG 0.582000 6 63 0.0215528 0.0220784 1 1 0 OLFML2B 25903 broad.mit.edu 37 1 161954032 161954032 + Silent SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr1:161954032G>A ENST00000294794.3 - 8 2109 c.1686C>T c.(1684-1686)agC>agT p.S562S OLFML2B_ENST00000367940.2_Silent_p.S563S|OLFML2B_ENST00000367938.1_Silent_p.S45S NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 562 Olfactomedin-like. breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) TGCCGATCCAGCTGTACGGGA 0.577000 11 111 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97833482 97833482 + Silent SNP G G T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr7:97833482G>T ENST00000297293.5 + 13 4760 c.4467G>T c.(4465-4467)tcG>tcT p.S1489S NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 1489 Missing (in Ref. 2; BAA83031). early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) TGACCGACTCGGACATCGAGC 0.657000 10 79 0.00010058 0.000108317 1 1 0 ACTL6A 86 broad.mit.edu 37 3 179294649 179294649 + Missense_Mutation SNP G G T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr3:179294649G>T ENST00000429709.2 + 8 929 c.716G>T c.(715-717)aGa>aTa p.R239I ACTL6A_ENST00000392662.1_Missense_Mutation_p.R197I|ACTL6A_ENST00000450518.2_Missense_Mutation_p.R197I|ACTL6A_ENST00000467615.1_3'UTR NM_004301.3 NP_004292.1 O96019 ACL6A_HUMAN actin-like 6A 239 chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex ATP binding|chromatin binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 21 all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169) AACTGGAAAAGAAAAGAGAAG 0.423000 13 87 1.05317e-09 1.22191e-09 1 1 0 CYP17A1 1586 broad.mit.edu 37 10 104591347 104591347 + Silent SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr10:104591347G>A ENST00000369887.3 - 7 1332 c.1161C>T c.(1159-1161)gaC>gaT p.D387D NM_000102.3 NP_000093.1 P05093 CP17A_HUMAN cytochrome P450, family 17, subfamily A, polypeptide 1 387 androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) NADH(DB00157)|Progesterone(DB00396) CTGTGCCCTTGTCCACAGCAA 0.542000 14 35 0 0 1 0 0 LINS 55180 broad.mit.edu 37 15 101114293 101114293 + Missense_Mutation SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr15:101114293G>A ENST00000314742.8 - 5 1007 c.785C>T c.(784-786)tCc>tTc p.S262F LINS_ENST00000560133.1_Missense_Mutation_p.S143F|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Missense_Mutation_p.S262F NM_001040616.2 NP_001035706.1 Q8NG48 LINES_HUMAN lines homolog (Drosophila) 262 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 GTGGATTCTGGAGGCGATGAG 0.388000 5 54 0 0 1 0 0 NPW 283869 broad.mit.edu 37 16 2070260 2070260 + Missense_Mutation SNP G G T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr16:2070260G>T ENST00000329610.4 + 1 740 c.358G>T c.(358-360)Gcc>Tcc p.A120S NPW_ENST00000566435.1_Missense_Mutation_p.A68S NM_001099456.2 NP_001092926.2 Q8N729 NPW_HUMAN neuropeptide W 120 feeding behavior|neuropeptide signaling pathway extracellular region kidney(1) 1 GAGCCCGCGCGCCCCAGAGCC 0.726000 3 3 0.115264 0.116372 1 1 0 TP53 7157 broad.mit.edu 37 17 7577114 7577114 + Missense_Mutation SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr17:7577114C>T ENST00000420246.2 - 8 956 c.824G>A c.(823-825)tGt>tAt p.C275Y TP53_ENST00000359597.4_Missense_Mutation_p.C275Y|TP53_ENST00000455263.2_Missense_Mutation_p.C275Y|TP53_ENST00000269305.4_Missense_Mutation_p.C275Y|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.C275Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 275 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGGACAGGCACAAACACGCAC 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 15 20 0 0 1 0 0 TRAV8-2 28684 broad.mit.edu 37 14 22314901 22314901 + RNA SNP G G C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr14:22314901G>C ENST00000390434.3 + 0 183 CCTGGCTTCTGTCCTCCCTGC 0.552000 OREG0022570 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 53 0 0 1 0 0 EXOC5 10640 broad.mit.edu 37 14 57675357 57675357 + Silent SNP T T C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr14:57675357T>C ENST00000413566.2 - 18 2456 c.2097A>G c.(2095-2097)agA>agG p.R699R EXOC5_ENST00000340918.7_Silent_p.R634R NM_006544.3 NP_006535.1 O00471 EXOC5_HUMAN exocyst complex component 5 699 exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking cytoplasm breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 22 GGCGGGCAGATCTATAATCAG 0.428000 42 169 0 0 1 0 0 TAF1B 9014 broad.mit.edu 37 2 9991714 9991714 + Missense_Mutation SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr2:9991714C>T ENST00000263663.5 + 4 438 c.250C>T c.(250-252)Ctt>Ttt p.L84F TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR NM_005680.2 NP_005671.2 Q53T94 TAF1B_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa 84 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CCAGTATATTCTTTATCAACA 0.328000 11 70 0 0 1 0 0 ZDHHC12 84885 broad.mit.edu 37 9 131484290 131484290 + Missense_Mutation SNP G G T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr9:131484290G>T ENST00000372667.5 - 3 384 c.355C>A c.(355-357)Ctg>Atg p.L119M ZDHHC12_ENST00000372672.2_Missense_Mutation_p.L105M|ZDHHC12_ENST00000467312.1_5'UTR|ZDHHC12_ENST00000372663.4_Missense_Mutation_p.L105M Q96GR4 ZDH12_HUMAN zinc finger, DHHC-type containing 12 105 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1) 4 TCACTCACCAGCACCAGGCAG 0.627000 9 66 9.70103e-10 1.13179e-09 1 1 0 CYP2D7 1564 broad.mit.edu 37 22 42538870 42538870 + RNA SNP A A C rs2982057 by1000genomes TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr22:42538870A>C ENST00000433992.1 - 0 475 CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA endometrium(1) 1 CCATAGCGCGACAGGAACACC 0.687000 3 38 0 0 1 0 0 BAI1 575 broad.mit.edu 37 8 143558824 143558824 + Missense_Mutation SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr8:143558824G>A ENST00000517894.1 + 6 2195 c.1301G>A c.(1300-1302)cGc>cAc p.R434H BAI1_ENST00000323289.5_Missense_Mutation_p.R434H O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 434 TSP type-1 3. axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GATCGCACGCGCACCTGCAGG 0.642000 16 129 0 0 1 0 0 PON1 5444 broad.mit.edu 37 7 95025660 95025660 + Translation_Start_Site SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr7:95025660C>T ENST00000542556.1 - 1 13 c.3G>A c.(1-3)atG>atA p.M1I PON3_ENST00000265627.5_Start_Codon_SNP_p.M1I|PON3_ENST00000427422.1_Start_Codon_SNP_p.M1I P27169 PON1_HUMAN paraoxonase 1 1 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 27 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) CGAGCTTCCCCATGGTCTCGG 0.706000 30 93 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32631588 32631588 + Silent SNP A A G TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr9:32631588A>G ENST00000242310.4 - 1 4079 c.3990T>C c.(3988-3990)gaT>gaC p.D1330D NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1330 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GTTCTTCATTATCATTATGAA 0.423000 19 260 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139393392 139393392 + Missense_Mutation SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr9:139393392G>A ENST00000277541.6 - 33 6214 c.6139C>T c.(6139-6141)Ctc>Ttc p.L2047F NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 2047 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TTCTTCAGGAGCACAACTGCG 0.592000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 20 175 0 0 1 0 0 OMP 4975 broad.mit.edu 37 11 76814046 76814046 + Missense_Mutation SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr11:76814046G>A ENST00000529803.1 + 1 161 c.161G>A c.(160-162)cGc>cAc p.R54H CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_Intron NM_006189.1 NP_006180.1 P47874 OMP_HUMAN olfactory marker protein 54 sensory perception of smell|synaptic transmission endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 TCTGTGTACCGCCTCAACTTC 0.637000 19 42 0 0 1 0 0 JUP 3728 broad.mit.edu 37 17 39914005 39914005 + Missense_Mutation SNP C C A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr17:39914005C>A ENST00000393931.3 - 11 1923 c.1805G>T c.(1804-1806)cGc>cTc p.R602L JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.R602L|JUP_ENST00000393930.1_Missense_Mutation_p.R602L NM_002230.2 NP_002221.1 P14923 PLAK_HUMAN junction plakoglobin 602 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) GGCAGCCACGCGCTGGATGTT 0.672000 8 24 0.000274275 0.000290898 1 1 0 ELTD1 64123 broad.mit.edu 37 1 79383705 79383705 + Missense_Mutation SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr1:79383705G>A ENST00000370742.3 - 11 1555 c.1492C>T c.(1492-1494)Cac>Tac p.H498Y NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 498 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) AAGAAGTAGTGTAGCAGTCCG 0.343000 5 86 0 0 1 0 0 DGAT2L6 347516 broad.mit.edu 37 X 69424196 69424196 + Missense_Mutation SNP T T C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chrX:69424196T>C ENST00000333026.3 + 6 789 c.689T>C c.(688-690)gTt>gCt p.V230A NM_198512.1 NP_940914.1 Q6ZPD8 DG2L6_HUMAN diacylglycerol O-acyltransferase 2-like 6 230 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1) 12 GAGAACGAAGTTTTCAATCAG 0.468000 6 11 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34400150 34400150 + Missense_Mutation SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr10:34400150C>T ENST00000374789.3 - 25 4343 c.4018G>A c.(4018-4020)Gcg>Acg p.A1340T PARD3_ENST00000374794.3_Missense_Mutation_p.A1228T|PARD3_ENST00000374788.3_Missense_Mutation_p.A1337T|PARD3_ENST00000545693.1_Missense_Mutation_p.A1324T|PARD3_ENST00000346874.4_Missense_Mutation_p.A1303T|PARD3_ENST00000350537.4_Missense_Mutation_p.A1294T|PARD3_ENST00000374790.3_Missense_Mutation_p.A1280T|PARD3_ENST00000545260.1_Missense_Mutation_p.A1250T NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 1340 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) TTCAGCCTCGCAACCTGAGAA 0.542000 16 40 0 0 1 0 0 TRIP6 7205 broad.mit.edu 37 7 100466242 100466242 + Silent SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr7:100466242G>A ENST00000200457.4 + 4 849 c.489G>A c.(487-489)ccG>ccA p.P163P NM_003302.2 NP_003293.2 Q15654 TRIP6_HUMAN thyroid hormone receptor interactor 6 163 focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent cytoplasm|cytoskeleton|focal adhesion|nucleus identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5) 14 Lung NSC(181;0.041)|all_lung(186;0.0581) CCAGCACCCCGGCTGGCCCAG 0.711000 14 52 0 0 1 0 0 KCNK18 338567 broad.mit.edu 37 10 118969271 118969271 + Missense_Mutation SNP G G C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr10:118969271G>C ENST00000334549.1 + 3 616 c.616G>C c.(616-618)Gct>Cct p.A206P NM_181840.1 NP_862823.1 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 206 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) CATCATCAGTGCTGAAGAGCT 0.542000 14 97 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58615370 58615370 + Missense_Mutation SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr16:58615370C>T ENST00000317147.5 - 11 1426 c.1094G>A c.(1093-1095)gGa>gAa p.G365E CNOT1_ENST00000441024.2_Missense_Mutation_p.G365E|CNOT1_ENST00000569240.1_Missense_Mutation_p.G365E NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 365 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) AATTTGAAATCCAGGATGGTC 0.358000 9 36 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40433526 40433526 + Nonsense_Mutation SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr19:40433526C>T ENST00000221347.6 - 2 750 c.743G>A c.(742-744)tGg>tAg p.W248* NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 248 IgGFc-binding. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GTGGGTGCCCCAGGCAGACGT 0.587000 28 59 0 0 1 0 0 TBL3 10607 broad.mit.edu 37 16 2025058 2025058 + Silent SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr16:2025058C>T ENST00000568546.1 + 7 722 c.594C>T c.(592-594)gtC>gtT p.V198V NM_006453.2 NP_006444.2 Q12788 TBL3_HUMAN transducin (beta)-like 3 198 G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing nucleolus|small-subunit processome receptor signaling protein activity breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 18 ACAGCGCCGTCACCTCACTGG 0.662000 6 61 0 0 1 0 0 PCSK6 5046 broad.mit.edu 37 15 101922383 101922383 + Silent SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr15:101922383G>A ENST00000348070.1 - 12 1442 c.1443C>T c.(1441-1443)gaC>gaT p.D481D PCSK6_ENST00000358417.3_Silent_p.D481D|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Silent_p.D316D|PCSK6_ENST00000344273.2_Silent_p.D481D|PCSK6_ENST00000398181.2_Silent_p.D481D NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 482 glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GAGCTTCTGCGTCCACCAAAC 0.567000 5 18 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53092796 53092796 + Nonsense_Mutation SNP T T A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr8:53092796T>A ENST00000276480.7 - 9 846 c.163A>T c.(163-165)Aaa>Taa p.K55* NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 55 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) AGCAGGGATTTCCTTTTGTTG 0.493000 16 161 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72963052 72963052 + Silent SNP T T A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr8:72963052T>A ENST00000262209.4 - 15 2073 c.1866A>T c.(1864-1866)ccA>ccT p.P622P RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 622 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) TTTCTGTAATTGGACATTTAT 0.333000 7 61 0 0 1 0 0 TIMM13 26517 broad.mit.edu 37 19 2427444 2427444 + Missense_Mutation SNP T T C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr19:2427444T>C ENST00000215570.3 - 1 448 c.88A>G c.(88-90)Atc>Gtc p.I30V TIMM13_ENST00000591871.1_Intron NM_012458.2 NP_036590.1 Q9Y5L4 TIM13_HUMAN translocase of inner mitochondrial membrane 13 homolog (yeast) 30 protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex protein binding|zinc ion binding endometrium(1)|prostate(1) 2 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) GCCACGGCGATCTGCACTTTC 0.711000 9 33 0 0 1 0 0 SOBP 55084 broad.mit.edu 37 6 107955180 107955180 + Missense_Mutation SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr6:107955180G>A ENST00000317357.5 + 6 1791 c.1132G>A c.(1132-1134)Gtc>Atc p.V378I NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 378 Pro-rich. metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) TCCCCTTGGCGTCCCGCCTCG 0.647000 54 134 0 0 1 0 0 GALNT14 79623 broad.mit.edu 37 2 31360929 31360929 + Silent SNP C C A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr2:31360929C>A ENST00000349752.5 - 1 663 c.24G>T c.(22-24)ctG>ctT p.L8L GALNT14_ENST00000324589.5_Silent_p.L8L|GALNT14_ENST00000356174.3_Silent_p.L8L NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 8 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) CTGGCAGAACCAGCCGACGAG 0.672000 7 63 0.0381472 0.038888 1 1 0 FUT5 2527 broad.mit.edu 37 19 5867208 5867208 + Missense_Mutation SNP C C T rs140525878 byFrequency TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr19:5867208C>T ENST00000252675.5 - 5 1091 c.529G>A c.(529-531)Gac>Aac p.D177N FUT5_ENST00000588525.1_Missense_Mutation_p.D177N Q11128 FUT5_HUMAN fucosyltransferase 5 (alpha (1,3) fucosyltransferase) 177 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 GTGAAGATGTCGGAGTCGCTG 0.657000 16 55 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390356 45390356 + Missense_Mutation SNP C C A rs114654066 by1000genomes TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr6:45390356C>A ENST00000371438.1 + 2 443 c.85C>A c.(85-87)Ccc>Acc p.P29T RUNX2_ENST00000371432.3_Missense_Mutation_p.P15T|RUNX2_ENST00000465038.2_Missense_Mutation_p.P29T|RUNX2_ENST00000541979.1_Missense_Mutation_p.P97T|RUNX2_ENST00000576263.1_Missense_Mutation_p.P29T|RUNX2_ENST00000352853.5_Missense_Mutation_p.P97T|RUNX2_ENST00000359524.5_Missense_Mutation_p.P15T|RUNX2_ENST00000371436.6_Missense_Mutation_p.P29T NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 29 negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 GCGCTTCAGCCCCCCCTCCAG 0.642000 38 76 1.41504e-22 1.76879e-22 1 1 0 FMN2 56776 broad.mit.edu 37 1 240341300 240341300 + Missense_Mutation SNP G G T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr1:240341300G>T ENST00000319653.9 + 3 2092 c.1862G>T c.(1861-1863)cGa>cTa p.R621L RP11-567G24.3_ENST00000444308.1_RNA|RP11-567G24.3_ENST00000412311.1_RNA NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 621 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.R764L(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TTTCCTAGGCGAGTTCCATCC 0.448000 20 39 6.33239e-15 7.68671e-15 1 1 0 CNBD1 168975 broad.mit.edu 37 8 88297017 88297017 + Missense_Mutation SNP G G C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr8:88297017G>C ENST00000518476.1 + 7 934 c.883G>C c.(883-885)Gca>Cca p.A295P NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 295 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 TAAAATCCCAGCAAAGGGATA 0.363000 6 5 0 0 1 0 0 PAPD7 11044 broad.mit.edu 37 5 6746537 6746537 + Missense_Mutation SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr5:6746537C>T ENST00000230859.6 + 7 835 c.706C>T c.(706-708)Cca>Tca p.P236S NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 236 PAP-associated. cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 CCCCCTGCTGCCAGGTAAGGG 0.607000 4 109 0 0 1 0 0 GH1 2688 broad.mit.edu 37 17 61994708 61994708 + Missense_Mutation SNP G G C rs148474991 TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr17:61994708G>C ENST00000323322.5 - 5 657 c.615C>G c.(613-615)atC>atG p.I205M CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Missense_Mutation_p.I110M|GH1_ENST00000458650.2_Missense_Mutation_p.I190M|GH1_ENST00000351388.4_Missense_Mutation_p.I165M NM_000515.3 NP_000506.2 P01241 SOMA_HUMAN growth hormone 1 205 I -> M (in short stature; idiopathic autosomal). glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus extracellular space growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding p.I205M(1) breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 19 GGCACTGCACGATGCGCAGGA 0.592000 26 71 0 0 1 0 0 RGL2 5863 broad.mit.edu 37 6 33263887 33263887 + Missense_Mutation SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr6:33263887G>A ENST00000497454.1 - 6 1181 c.686C>T c.(685-687)cCc>cTc p.P229L PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Missense_Mutation_p.P147L|RGL2_ENST00000437840.2_5'UTR NM_001243738.1|NM_004761.4 NP_001230667.1|NP_004752.1 O15211 RGL2_HUMAN ral guanine nucleotide dissociation stimulator-like 2 229 Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 34 GGGATCGCCGGGGAGGGCCAG 0.682000 24 162 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525975 176525975 + Missense_Mutation SNP A A G TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr1:176525975A>G ENST00000367662.3 + 2 1681 c.517A>G c.(517-519)Acc>Gcc p.T173A PAPPA2_ENST00000367661.3_Missense_Mutation_p.T173A NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 173 Poly-Thr. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGCCACTACTACCACCGCCAT 0.577000 46 72 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71491562 71491562 + Missense_Mutation SNP G G T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr5:71491562G>T ENST00000296755.7 + 5 2678 c.2380G>T c.(2380-2382)Gct>Tct p.A794S NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 794 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GGCCGCAGAGGCTGTCGCTGC 0.537000 9 76 3.09899e-07 3.49885e-07 1 1 0 C6 729 broad.mit.edu 37 5 41199878 41199878 + Missense_Mutation SNP C C G TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr5:41199878C>G ENST00000263413.3 - 4 701 c.437G>C c.(436-438)tGt>tCt p.C146S C6_ENST00000337836.5_Missense_Mutation_p.C146S NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 146 LDL-receptor class A. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) ACCACTGTCACAGCGAAATTT 0.418000 15 88 0 0 1 0 0 INPP4B 8821 broad.mit.edu 37 4 143044493 143044493 + Missense_Mutation SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr4:143044493G>A ENST00000513000.1 - 21 2402 c.1969C>T c.(1969-1971)Cac>Tac p.H657Y INPP4B_ENST00000509777.1_Missense_Mutation_p.H657Y|INPP4B_ENST00000508116.1_Missense_Mutation_p.H657Y|INPP4B_ENST00000308502.4_Missense_Mutation_p.H657Y|INPP4B_ENST00000262992.4_Missense_Mutation_p.H657Y NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 657 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) CCCACTGTGTGAAGCTGCTGT 0.363000 5 46 0 0 1 0 0 EGR1 1958 broad.mit.edu 37 5 137803316 137803316 + Missense_Mutation SNP A A T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr5:137803316A>T ENST00000239938.4 + 2 1450 c.1178A>T c.(1177-1179)gAa>gTa p.E393V NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 393 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CACACAGGCGAAAAGCCCTTC 0.582000 18 120 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228169768 228169768 + Silent SNP A A G TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr2:228169768A>G ENST00000396578.3 + 47 4383 c.4221A>G c.(4219-4221)gaA>gaG p.E1407E AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 1407 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) CAGCTGGAGAAAAAGGCAACA 0.473000 5 30 0 0 1 0 0 ZNF354C 30832 broad.mit.edu 37 5 178507032 178507032 + Missense_Mutation SNP C C A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr5:178507032C>A ENST00000315475.6 + 5 1905 c.1599C>A c.(1597-1599)ttC>ttA p.F533L NM_014594.1 NP_055409.1 Q86Y25 Z354C_HUMAN zinc finger protein 354C 533 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3) 30 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) GGAAACCTTTCATCTGCAGCT 0.383000 32 56 3.57733e-08 4.10513e-08 1 1 0 NAV3 89795 broad.mit.edu 37 12 78392148 78392148 + Missense_Mutation SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr12:78392148G>A ENST00000397909.2 + 7 945 c.772G>A c.(772-774)Gga>Aga p.G258R NAV3_ENST00000228327.6_Missense_Mutation_p.G258R|NAV3_ENST00000266692.7_Missense_Mutation_p.G258R|NAV3_ENST00000536525.2_Missense_Mutation_p.G258R Q8IVL0 NAV3_HUMAN neuron navigator 3 258 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 GCCTGCTGCAGGAAGCAGCAG 0.418000 HNSCC(70;0.22) 12 35 0 0 1 0 0 BICD2 23299 broad.mit.edu 37 9 95482892 95482892 + Missense_Mutation SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr9:95482892C>T ENST00000356884.6 - 4 819 c.752G>A c.(751-753)cGc>cAc p.R251H BICD2_ENST00000375512.3_Missense_Mutation_p.R251H NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 251 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 CTTCTGTTCGCGCTCCGTCTT 0.587000 12 66 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100838939 100838939 + Silent SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr6:100838939C>T ENST00000369208.3 - 12 2381 c.1599G>A c.(1597-1599)gtG>gtA p.V533V SIM1_ENST00000262901.4_Silent_p.V533V P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 533 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GAGAACTGACCACACTATCTT 0.423000 12 35 0 0 1 0 0 TIGIT 201633 broad.mit.edu 37 3 114014592 114014592 + Missense_Mutation SNP G G T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr3:114014592G>T ENST00000481065.1 + 3 3078 c.463G>T c.(463-465)Ggt>Tgt p.G155C TIGIT_ENST00000486257.1_Missense_Mutation_p.G88C|TIGIT_ENST00000383671.3_Missense_Mutation_p.G88C Q495A1 TIGIT_HUMAN T cell immunoreceptor with Ig and ITIM domains 88 negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production cell surface|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1) 17 AGTGGCCCCAGGTCCCGGCCT 0.592000 13 76 0.00010058 0.000108317 1 1 0 PHRF1 57661 broad.mit.edu 37 11 592631 592631 + Missense_Mutation SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr11:592631G>A ENST00000264555.5 + 6 705 c.577G>A c.(577-579)Gac>Aac p.D193N PHRF1_ENST00000533464.1_Missense_Mutation_p.D189N|PHRF1_ENST00000416188.2_Missense_Mutation_p.D193N|PHRF1_ENST00000413872.2_Missense_Mutation_p.D192N NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 193 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 CGGCAGGAGCGACCGTGAGGA 0.647000 33 82 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218700800 218700800 + Nonsense_Mutation SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr2:218700800G>A ENST00000171887.4 - 18 3219 c.2767C>T c.(2767-2769)Cag>Tag p.Q923* TNS1_ENST00000419504.1_Nonsense_Mutation_p.Q923*|TNS1_ENST00000430930.1_Nonsense_Mutation_p.Q923* NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 923 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) GAGACACACTGGACAGGGGAG 0.617000 16 75 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11584076 11584076 + Missense_Mutation SNP G G C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr1:11584076G>C ENST00000294484.6 + 11 2578 c.2440G>C c.(2440-2442)Gtc>Ctc p.V814L PTCHD2_ENST00000389575.3_Missense_Mutation_p.V814L NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 814 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) AGGCTCAGGGGTCCCCTGGGC 0.652000 9 57 0 0 1 0 0 ZNF470 388566 broad.mit.edu 37 19 57088800 57088800 + Missense_Mutation SNP A A C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr19:57088800A>C ENST00000330619.8 + 6 1689 c.1003A>C c.(1003-1005)Act>Cct p.T335P ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.T335P NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) GAGGGTCCACACTGGAGAGAA 0.443000 20 62 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143771499 143771499 + Missense_Mutation SNP T T C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr7:143771499T>C ENST00000408898.2 + 1 225 c.187T>C c.(187-189)Tca>Cca p.S63P NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) CTTCTTCCTCTCACACCTGGC 0.577000 7 112 0 0 1 0 0 CAPZA1 829 broad.mit.edu 37 1 113197106 113197106 + Missense_Mutation SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr1:113197106G>A ENST00000263168.3 + 5 911 c.239G>A c.(238-240)gGt>gAt p.G80D CAPZA1_ENST00000476936.1_Intron NM_006135.2 NP_006126.1 P52907 CAZA1_HUMAN capping protein (actin filament) muscle Z-line, alpha 1 80 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly cytosol|extracellular region|F-actin capping protein complex|WASH complex actin binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1) 9 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGAGCACGGTGACCTGGGT 0.348000 7 34 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196712698 196712698 + Missense_Mutation SNP T T C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr1:196712698T>C ENST00000367429.4 + 20 3490 c.3250T>C c.(3250-3252)Ttt>Ctt p.F1084L NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 1084 Sushi 18. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TTATGAAATGTTTGGGGATGA 0.388000 29 137 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38943512 38943512 + Missense_Mutation SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr19:38943512C>T ENST00000355481.4 + 13 1429 c.1298C>T c.(1297-1299)aCg>aTg p.T433M RYR1_ENST00000360985.3_Missense_Mutation_p.T433M|RYR1_ENST00000359596.3_Missense_Mutation_p.T433M NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 433 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCCGCTGGCACGGCGCTGCCC 0.657000 11 16 0 0 1 0 0 ITPRIPL1 150771 broad.mit.edu 37 2 96992391 96992391 + Missense_Mutation SNP T T C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr2:96992391T>C ENST00000361124.4 + 1 457 c.46T>C c.(46-48)Tcc>Ccc p.S16P ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.S8P|ITPRIPL1_ENST00000536814.1_5'UTR|ITPRIPL1_ENST00000542887.1_5'UTR NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 8 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TGCAGAGGCCTCCATGGCTGT 0.522000 25 73 0 0 1 0 0 TLE4 7091 broad.mit.edu 37 9 82321747 82321747 + Missense_Mutation SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr9:82321747C>T ENST00000376520.4 + 11 1697 c.869C>T c.(868-870)cCg>cTg p.P290L TLE4_ENST00000376552.2_Missense_Mutation_p.P290L|TLE4_ENST00000265284.6_Missense_Mutation_p.P265L|TLE4_ENST00000376537.4_Missense_Mutation_p.P290L|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376544.3_Intron O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 AAAGATGCCCCGATTAGTCCA 0.517000 16 183 0 0 1 0 0 IFT80 57560 broad.mit.edu 37 3 159976338 159976338 + Missense_Mutation SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr3:159976338C>T ENST00000326448.7 - 20 2741 c.2309G>A c.(2308-2310)aGc>aAc p.S770N RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.S941N|IFT80_ENST00000496589.1_Missense_Mutation_p.S633N|IFT80_ENST00000483465.1_Missense_Mutation_p.S633N NM_020800.2 NP_065851.1 Q9P2H3 IFT80_HUMAN intraflagellar transport 80 homolog (Chlamydomonas) 770 cilium axoneme|microtubule basal body NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TATACTCTTGCTGGATTGGCT 0.348000 4 58 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115750948 115750948 + Missense_Mutation SNP C C G TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr4:115750948C>G ENST00000264363.2 - 13 3175 c.2497G>C c.(2497-2499)Gag>Cag p.E833Q NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 833 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) ATTATTACCTCTGGATCCATA 0.343000 5 26 0 0 1 0 0 QKI 9444 broad.mit.edu 37 6 163991740 163991740 + Nonstop_Mutation SNP T T C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr6:163991740T>C ENST00000361752.3 + 8 1575 c.1024T>C c.(1024-1026)Taa>Caa p.*342Q QKI_ENST00000361195.2_Nonstop_Mutation_p.*334Q NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2 NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1 Q96PU8 QKI_HUMAN QKI, KH domain containing, RNA binding 0 mRNA processing|mRNA transport|regulation of translation|RNA splicing cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2) 27 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) CACCGGCAACTAACCTATGAC 0.438000 82 266 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81064919 81064919 + Splice_Site SNP A A G TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr10:81064919A>G ENST00000334512.5 + 20 2858 c.e20-1 NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) GTCTGTCTGCAGTGCTTTGAT 0.552000 14 50 0 0 1 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68150614 68150614 + Missense_Mutation SNP C C G TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr8:68150614C>G ENST00000262215.3 - 22 3642 c.3253G>C c.(3253-3255)Gat>Cat p.D1085H ARFGEF1_ENST00000518230.1_5'UTR|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.D539H NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 1085 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding p.D1085Y(1) breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GGAGCCTGATCTTTTGTTCCA 0.398000 4 77 0 0 1 0 0 MCM4 4173 broad.mit.edu 37 8 48874624 48874624 + Missense_Mutation SNP G G T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr8:48874624G>T ENST00000262105.2 + 3 456 c.247G>T c.(247-249)Gac>Tac p.D83Y MCM4_ENST00000523944.1_Missense_Mutation_p.D83Y NM_005914.3 NP_005905.2 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 83 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) TATCCCTCTTGACTTTGATGT 0.453000 7 93 0.27861 0.27861 1 1 0 MAPK7 5598 broad.mit.edu 37 17 19285691 19285691 + Missense_Mutation SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr17:19285691C>T ENST00000308406.5 + 5 2461 c.2075C>T c.(2074-2076)cCg>cTg p.P692L MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_Missense_Mutation_p.P553L|MAPK7_ENST00000395604.3_Missense_Mutation_p.P692L|MAPK7_ENST00000395602.4_Missense_Mutation_p.P692L NM_139033.2 NP_620602.2 Q13164 MK07_HUMAN mitogen-activated protein kinase 7 692 May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich. cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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 activity|protein binding autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 30 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) CCTGGCCTGCCGCCCCCAGAC 0.632000 5 107 0 0 1 0 0 DDHD1 80821 broad.mit.edu 37 14 53540558 53540558 + Missense_Mutation SNP C C G TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr14:53540558C>G ENST00000357758.3 - 5 1480 c.1297G>C c.(1297-1299)Gaa>Caa p.E433Q DDHD1_ENST00000323669.5_Missense_Mutation_p.E433Q|DDHD1_ENST00000395606.1_Missense_Mutation_p.E440Q NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 433 lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) CTTGCAGCTTCTCTCATCCTA 0.323000 13 35 0 0 1 0 0 LOXL1 4016 broad.mit.edu 37 15 74240200 74240200 + Missense_Mutation SNP G G T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr15:74240200G>T ENST00000261921.7 + 5 1885 c.1559G>T c.(1558-1560)tGg>tTg p.W520L LOXL1_ENST00000567675.1_3'UTR NM_005576.2 NP_005567.2 Q08397 LOXL1_HUMAN lysyl oxidase-like 1 520 Lysyl-oxidase like. protein deamination extracellular space copper ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 GACTGCCAGTGGATCGACATA 0.577000 22 108 5.45024e-15 6.65436e-15 1 1 0 GH1 2688 broad.mit.edu 37 17 61994788 61994788 + Missense_Mutation SNP C C G rs151243538 TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr17:61994788C>G ENST00000323322.5 - 5 577 c.535G>C c.(535-537)Gat>Cat p.D179H CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Missense_Mutation_p.D84H|GH1_ENST00000458650.2_Missense_Mutation_p.D164H|GH1_ENST00000351388.4_Missense_Mutation_p.D139H NM_000515.3 NP_000506.2 P01241 SOMA_HUMAN growth hormone 1 179 glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus extracellular space growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 19 AGTGCGTCATCGTTGTGTGAG 0.542000 27 104 0 0 1 0 0 MMAA 166785 broad.mit.edu 37 4 146567274 146567274 + Silent SNP A A T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr4:146567274A>T ENST00000281317.5 + 4 1909 c.699A>T c.(697-699)ggA>ggT p.G233G RP11-557J10.4_ENST00000504555.1_RNA|MMAA_ENST00000541599.1_5'UTR NM_172250.2 NP_758454.1 Q8IVH4 MMAA_HUMAN methylmalonic aciduria (cobalamin deficiency) cblA type 233 mitochondrion GTP binding|nucleoside-triphosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1) 17 all_hematologic(180;0.151) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGTGTGAAGGAGCGGGATATG 0.368000 13 53 0 0 1 0 0 RASSF2 9770 broad.mit.edu 37 20 4766896 4766896 + Missense_Mutation SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr20:4766896C>T ENST00000379400.3 - 11 1087 c.892G>A c.(892-894)Gta>Ata p.V298I RASSF2_ENST00000379376.2_Missense_Mutation_p.V298I|RASSF2_ENST00000478553.1_5'UTR NM_014737.2 NP_055552.1 P50749 RASF2_HUMAN Ras association (RalGDS/AF-6) domain family member 2 298 SARAH. cell cycle|signal transduction nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 AGCTTCTTTACTTCCCGATCT 0.527000 57 143 0 0 1 0 0 TTPA 7274 broad.mit.edu 37 8 63973974 63973974 + Missense_Mutation SNP T T A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr8:63973974T>A ENST00000260116.4 - 5 705 c.674A>T c.(673-675)cAt>cTt p.H225L TTPA_ENST00000521138.1_Intron NM_000370.3 NP_000361.1 P49638 TTPA_HUMAN tocopherol (alpha) transfer protein 225 CRAL-TRIO. lipid metabolic process transporter activity|vitamin E binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8) 15 Breast(64;0.0716) all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123) Vitamin E(DB00163) GTTGTTCCCATGCATGTGAAT 0.388000 3 37 0 0 1 0 0 FOXA2 3170 broad.mit.edu 37 20 22563595 22563595 + Silent SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr20:22563595G>A ENST00000419308.2 - 2 469 c.267C>T c.(265-267)ggC>ggT p.G89G FOXA2_ENST00000377115.4_Silent_p.G89G|FOXA2_ENST00000319993.4_Silent_p.G95G NM_021784.4 NP_068556.2 Q9Y261 FOXA2_HUMAN forkhead box A2 89 Transactivation domain 1 (By similarity). cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6 cytoplasm|transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region 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(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1) 22 Lung NSC(19;0.188) AGCCGCCCATGCCCGCCATGG 0.771000 4 16 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36483394 36483394 + Missense_Mutation SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr17:36483394G>A ENST00000342292.4 - 11 6078 c.6058C>T c.(6058-6060)Ccc>Tcc p.P2020S GPR179_ENST00000584976.1_Intron NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 2020 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) ACTTCCCAGGGACAGGTCTCA 0.542000 9 91 0 0 1 0 0 TNK2 10188 broad.mit.edu 37 3 195595561 195595561 + Silent SNP C C A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr3:195595561C>A ENST00000333602.6 - 12 2180 c.1563G>T c.(1561-1563)gtG>gtT p.V521V TNK2_ENST00000392400.1_Silent_p.V521V|TNK2_ENST00000381916.2_Silent_p.V599V|TNK2_ENST00000428187.1_Silent_p.V553V NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 521 Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) GGTCCTCGCTCACAGGGTCAT 0.652000 4 39 1.23904e-05 1.3552e-05 1 1 0 RNF43 54894 broad.mit.edu 37 17 56492716 56492716 + Missense_Mutation SNP T T C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr17:56492716T>C ENST00000584437.1 - 1 2178 c.223A>G c.(223-225)Ata>Gta p.I75V BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000583753.1_Missense_Mutation_p.I75V|RNF43_ENST00000407977.2_Missense_Mutation_p.I75V|RNF43_ENST00000577716.1_Missense_Mutation_p.I75V|RNF43_ENST00000500597.2_Missense_Mutation_p.I75V Q68DV7 RNF43_HUMAN ring finger protein 43 75 endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCTGGAGTTATTTCAGCAACA 0.373000 6 52 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7230564 7230564 + Silent SNP G G T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr6:7230564G>T ENST00000379938.2 + 10 2769 c.2232G>T c.(2230-2232)ctG>ctT p.L744L RREB1_ENST00000379933.3_Silent_p.L744L|RREB1_ENST00000349384.6_Silent_p.L744L|RREB1_ENST00000334984.6_Silent_p.L744L NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 744 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CGGCCGAGCTGGTGGACGCCT 0.647000 30 73 2.42023e-17 2.9897e-17 1 1 0 NBPF1 55672 broad.mit.edu 37 1 16907242 16907242 + Missense_Mutation SNP G G T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr1:16907242G>T ENST00000430580.2 - 16 2476 c.1589C>A c.(1588-1590)cCa>cAa p.P530Q NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 530 NBPF 2. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GAGGCTACCTGGGAGAATGTT 0.418000 12 826 6.49762e-13 7.70904e-13 1 1 0 LARP4B 23185 broad.mit.edu 37 10 875361 875361 + Silent SNP C C A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr10:875361C>A ENST00000316157.3 - 10 1129 c.1089G>T c.(1087-1089)acG>acT p.T363T NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 363 nucleotide binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 TTGCTGACCACGTCTGGGGAG 0.507000 10 20 0.000442599 0.000467065 1 1 0 LPAL2 80350 broad.mit.edu 37 6 160921853 160921853 + RNA SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr6:160921853G>A ENST00000335388.5 - 0 285 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) TGCTGGTGTGGCGTCATAGAT 0.453000 62 183 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46826191 46826191 + Missense_Mutation SNP G G C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr6:46826191G>C ENST00000283296.7 - 17 3737 c.3449C>G c.(3448-3450)aCc>aGc p.T1150S GPR116_ENST00000362015.4_Missense_Mutation_p.T1150S|GPR116_ENST00000265417.7_Missense_Mutation_p.T1150S|GPR116_ENST00000545669.1_Missense_Mutation_p.T579S|GPR116_ENST00000456426.2_Missense_Mutation_p.T1008S NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 1150 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) CCGGGGCTGGGTGGCTCCCAG 0.552000 4 40 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138452086 138452086 + Missense_Mutation SNP T T C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr4:138452086T>C ENST00000344876.4 - 1 1543 c.1157A>G c.(1156-1158)gAc>gGc p.D386G PCDH18_ENST00000507846.1_Missense_Mutation_p.D166G|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.D386G NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 386 Cadherin 4. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) AGAATCCTTGTCCTGAACTCT 0.343000 15 41 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48610945 48610945 + Splice_Site SNP C C A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr3:48610945C>A ENST00000328333.8 - 82 6726 c.e82+1 COL7A1_ENST00000454817.1_Splice_Site NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 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) CCTAGACTCACCTTCAGGCCA 0.577000 29 83 5.60225e-13 6.6845e-13 1 1 0 SPHK2 56848 broad.mit.edu 37 19 49132281 49132281 + Missense_Mutation SNP G G T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr19:49132281G>T ENST00000443164.1 + 5 2107 c.1402G>T c.(1402-1404)Gac>Tac p.D468Y SPHK2_ENST00000600537.1_Missense_Mutation_p.D347Y|SPHK2_ENST00000245222.4_Missense_Mutation_p.D406Y|SPHK2_ENST00000340932.3_Missense_Mutation_p.D368Y|SPHK2_ENST00000599748.1_Missense_Mutation_p.D370Y|SPHK2_ENST00000598088.1_Missense_Mutation_p.D406Y|SPHK2_ENST00000599029.1_Missense_Mutation_p.D370Y Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 406 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) CCTAACCCCAGAcccagcccc 0.692000 7 56 0.27861 0.27861 1 1 0 COL5A2 1290 broad.mit.edu 37 2 189916191 189916191 + Missense_Mutation SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr2:189916191G>A ENST00000374866.3 - 42 3060 c.2786C>T c.(2785-2787)gCg>gTg p.A929V NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 929 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) TAGGGGTCCCGCAGGTCCTGG 0.577000 4 39 0 0 1 0 0 XPO5 57510 broad.mit.edu 37 6 43538706 43538706 + Missense_Mutation SNP T T C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr6:43538706T>C ENST00000265351.7 - 4 536 c.326A>G c.(325-327)gAg>gGg p.E109G NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 109 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) AATATGGTTCTCCTCTTCCAA 0.408000 33 143 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525684 176525684 + Missense_Mutation SNP G G T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr1:176525684G>T ENST00000367662.3 + 2 1390 c.226G>T c.(226-228)Ggg>Tgg p.G76W PAPPA2_ENST00000367661.3_Missense_Mutation_p.G76W NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 76 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CAGCAGGGCTGGGAACTACCT 0.567000 30 251 5.45727e-16 6.70191e-16 1 1 0 LRRN1 57633 broad.mit.edu 37 3 3886868 3886868 + Silent SNP T T A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr3:3886868T>A ENST00000319331.3 + 2 1304 c.543T>A c.(541-543)gtT>gtA p.V181V SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 181 integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) AATTGAAAGTTATTGATAGTC 0.398000 16 66 0 0 1 0 0 FMNL3 91010 broad.mit.edu 37 12 50040717 50040717 + Missense_Mutation SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr12:50040717G>A ENST00000335154.5 - 25 3180 c.2947C>T c.(2947-2949)Cgg>Tgg p.R983W FMNL3_ENST00000293590.5_Missense_Mutation_p.R983W|FMNL3_ENST00000550488.1_Missense_Mutation_p.R982W|FMNL3_ENST00000352151.5_Missense_Mutation_p.R932W NM_175736.4 NP_783863.4 Q8IVF7 FMNL3_HUMAN formin-like 3 983 actin cytoskeleton organization actin binding|Rho GTPase binding breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1) 39 TAAACAGGCCGGTGTTCCTTG 0.587000 16 52 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48275342 48275342 + Missense_Mutation SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr17:48275342G>A ENST00000225964.5 - 8 728 c.610C>T c.(610-612)Ccc>Tcc p.P204S NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 204 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) TCACCAGGGGGACCTTGGAAG 0.488000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta OREG0024560 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 47 0 0 1 0 0 CRYZL1 9946 broad.mit.edu 37 21 34968063 34968063 + Nonsense_Mutation SNP G G C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr21:34968063G>C ENST00000361534.2 - 12 1089 c.950C>G c.(949-951)tCa>tGa p.S317* CRYZL1_ENST00000480893.1_5'UTR|CRYZL1_ENST00000381540.3_Nonsense_Mutation_p.S293*|CRYZL1_ENST00000381554.3_Nonsense_Mutation_p.S293*|CRYZL1_ENST00000445393.1_Intron|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000290244.5_Nonsense_Mutation_p.S278* O95825 QORL1_HUMAN crystallin, zeta (quinone reductase)-like 1 293 quinone cofactor metabolic process cytosol NADP binding|NADPH:quinone reductase activity|zinc ion binding lung(1)|prostate(1)|urinary_tract(1) 3 TTGTACATTTGACAAATTCCA 0.363000 4 38 0 0 1 0 0 CCDC138 165055 broad.mit.edu 37 2 109463294 109463294 + Missense_Mutation SNP A A G TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr2:109463294A>G ENST00000295124.4 + 12 1484 c.1424A>G c.(1423-1425)gAg>gGg p.E475G CCDC138_ENST00000412964.2_Missense_Mutation_p.E475G NM_144978.1 NP_659415.1 Q96M89 CC138_HUMAN coiled-coil domain containing 138 475 endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 14 CATTCTGTGGAGAATAAACCA 0.373000 8 32 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10219337 10219337 + Silent SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr17:10219337G>A ENST00000418404.3 - 27 3907 c.3744C>T c.(3742-3744)aaC>aaT p.N1248N MYH13_ENST00000570743.1_Silent_p.N1248N|MYH13_ENST00000252172.4_Silent_p.N1248N Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1248 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TTCTTTCTATGTTACTCTTTA 0.408000 20 27 0 0 1 0 0 SNED1 25992 broad.mit.edu 37 2 242004861 242004861 + Missense_Mutation SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr2:242004861C>T ENST00000310397.8 + 21 2860 c.2860C>T c.(2860-2862)Cgc>Tgc p.R954C SNED1_ENST00000401884.1_Missense_Mutation_p.R954C|SNED1_ENST00000405547.3_Missense_Mutation_p.R954C|SNED1_ENST00000342631.6_Missense_Mutation_p.R954C NM_001080437.1 NP_001073906.1 Q8TER0 SNED1_HUMAN sushi, nidogen and EGF-like domains 1 954 Fibronectin type-III 1. cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) CTCCTACCGCCGCACAGACTT 0.637000 25 71 0 0 1 0 0 MAN2A1 4124 broad.mit.edu 37 5 109153073 109153073 + Missense_Mutation SNP A A T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr5:109153073A>T ENST00000261483.4 + 13 3095 c.2043A>T c.(2041-2043)aaA>aaT p.K681N NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 681 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) CTTCAGGAAAACCTGTGGAAG 0.443000 23 57 0 0 1 0 0 DDX24 57062 broad.mit.edu 37 14 94528707 94528707 + Missense_Mutation SNP C C A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr14:94528707C>A ENST00000330836.5 - 3 1110 c.979G>T c.(979-981)Gac>Tac p.D327Y DDX24_ENST00000555054.1_Missense_Mutation_p.D284Y|DDX24_ENST00000544005.1_Missense_Mutation_p.D77Y NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 327 Helicase ATP-binding. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) AACGCCTGGTCTGAGACAGTG 0.512000 46 124 2.0833e-19 2.58872e-19 1 1 0 LRGUK 136332 broad.mit.edu 37 7 133884068 133884068 + Missense_Mutation SNP G G C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr7:133884068G>C ENST00000285928.2 + 14 1711 c.1642G>C c.(1642-1644)Gga>Cga p.G548R NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 548 Guanylate kinase-like. ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 GCGGAGAAAAGGATTATTCAG 0.363000 13 124 0 0 1 0 0 IREB2 3658 broad.mit.edu 37 15 78782855 78782855 + Missense_Mutation SNP T T G TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr15:78782855T>G ENST00000258886.8 + 17 2317 c.2168T>G c.(2167-2169)tTt>tGt p.F723C NM_004136.2 NP_004127.1 P48200 IREB2_HUMAN iron-responsive element binding protein 2 723 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) TGCCCTTCATTTTTTGATAAA 0.323000 13 34 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34190302 34190302 + Missense_Mutation SNP A A G TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr1:34190302A>G ENST00000373381.4 - 18 2875 c.2699T>C c.(2698-2700)aTa>aCa p.I900T NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 860 Sushi 5. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CTGCAGTGTTATAGCTGAAAG 0.517000 7 41 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12884893 12884893 + Silent SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr1:12884893C>T ENST00000535591.1 - 4 1413 c.1218G>A c.(1216-1218)agG>agA p.R406R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 406 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 TCTTGGGGTGCCTTAAGTGCC 0.498000 29 238 0 0 1 0 0 ACAD10 80724 broad.mit.edu 37 12 112130610 112130610 + Silent SNP C C A rs148699934 by1000genomes TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr12:112130610C>A ENST00000455480.2 + 2 274 c.97C>A c.(97-99)Cga>Aga p.R33R ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000549590.1_Silent_p.R33R|ACAD10_ENST00000313698.4_Silent_p.R33R NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 33 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 GGGGTCCCACCGATGGACACA 0.587000 33 112 2.47316e-13 2.96779e-13 1 1 0 FGA 2243 broad.mit.edu 37 4 155507843 155507843 + Silent SNP T T A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr4:155507843T>A ENST00000302053.3 - 5 816 c.738A>T c.(736-738)ccA>ccT p.P246P FGA_ENST00000403106.3_Silent_p.P246P NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 246 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CCTTCCACTCTGGGGGTACCT 0.473000 13 74 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9057047 9057047 + Silent SNP C C A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr19:9057047C>A ENST00000397910.4 - 3 30602 c.30399G>T c.(30397-30399)gtG>gtT p.V10133V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10135 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGGAGTACCCACTGGGTATG 0.468000 11 25 0.000673444 0.000703598 1 1 0 GRAMD1B 57476 broad.mit.edu 37 11 123474230 123474230 + Missense_Mutation SNP G G T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr11:123474230G>T ENST00000529750.1 + 8 1045 c.718G>T c.(718-720)Gac>Tac p.D240Y GRAMD1B_ENST00000322282.7_Missense_Mutation_p.D240Y|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.D247Y NM_020716.1 NP_065767.1 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 240 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) GCCCCCTGACGACGACTTCAA 0.602000 11 26 1.08611e-07 1.23288e-07 1 1 0 HSD17B2 3294 broad.mit.edu 37 16 82131955 82131955 + Missense_Mutation SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr16:82131955G>A ENST00000199936.4 + 5 1271 c.1078G>A c.(1078-1080)Gat>Aat p.D360N RP11-510J16.5_ENST00000567021.1_RNA NM_002153.2 NP_002144.1 P37059 DHB2_HUMAN hydroxysteroid (17-beta) dehydrogenase 2 360 response to retinoic acid|steroid biosynthetic process endoplasmic reticulum membrane|integral to membrane 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 NADH(DB00157) TGGCATATATGATTACTTTGC 0.468000 36 90 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54914562 54914562 + Silent SNP G G T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr12:54914562G>T ENST00000293373.6 + 17 1789 c.1710G>T c.(1708-1710)ctG>ctT p.L570L NCKAP1L_ENST00000545638.2_Silent_p.L520L NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 570 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 CTTTCCCCCTGATTTGTGCTC 0.473000 39 194 9.62906e-15 1.16213e-14 1 1 0 CPA4 51200 broad.mit.edu 37 7 129950640 129950640 + Silent SNP C C T rs144517019 byFrequency TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr7:129950640C>T ENST00000222482.4 + 9 835 c.807C>T c.(805-807)agC>agT p.S269S CPA4_ENST00000493259.1_Silent_p.S165S|CPA4_ENST00000445470.2_Silent_p.S236S NM_016352.3 NP_057436.2 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 269 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Melanoma(18;0.0435) AGGGAGCCAGCGACAACCCTT 0.498000 7 78 0 0 1 0 0 DDX26B 203522 broad.mit.edu 37 X 134711240 134711240 + Silent SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chrX:134711240G>A ENST00000370752.4 + 14 2230 c.1896G>A c.(1894-1896)agG>agA p.R632R DDX26B_ENST00000493637.1_Intron NM_182540.4 NP_872346.3 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 632 large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) TGCTGTTGAGGAAACCACAAA 0.502000 4 136 0 0 1 0 0 ASTE1 28990 broad.mit.edu 37 3 130737356 130737356 + Missense_Mutation SNP T T A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr3:130737356T>A ENST00000264992.3 - 4 1948 c.1507A>T c.(1507-1509)Agc>Tgc p.S503C ASTE1_ENST00000514044.1_Missense_Mutation_p.S503C NM_014065.2 NP_054784.2 Q2TB18 ASTE1_HUMAN asteroid homolog 1 (Drosophila) 503 DNA repair nuclease activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1) 22 CTACCAGGGCTGTTGATTATG 0.418000 16 109 0 0 1 0 0 ARHGAP24 83478 broad.mit.edu 37 4 86916648 86916648 + Missense_Mutation SNP G G T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr4:86916648G>T ENST00000395184.1 + 9 2307 c.1841G>T c.(1840-1842)aGg>aTg p.R614M ARHGAP24_ENST00000395183.2_Missense_Mutation_p.R519M|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.R521M NM_001025616.2 NP_001020787.2 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 614 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1) 24 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) AGTGACCACAGGAGTGTGGGA 0.537000 4 107 1.23904e-05 1.3552e-05 1 1 0 ZNF174 7727 broad.mit.edu 37 16 3452344 3452344 + Missense_Mutation SNP A A T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr16:3452344A>T ENST00000268655.4 + 1 925 c.340A>T c.(340-342)Agc>Tgc p.S114C ZNF174_ENST00000575752.1_Missense_Mutation_p.S114C|LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000344823.5_Missense_Mutation_p.S114C|ZNF174_ENST00000571936.1_Missense_Mutation_p.S114C|ZNF174_ENST00000572544.1_Missense_Mutation_p.S114C NM_003450.2 NP_003441.1 Q15697 ZN174_HUMAN zinc finger protein 174 114 SCAN box. negative regulation of transcription from RNA polymerase II promoter|viral reproduction actin cytoskeleton|cytoplasm|nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2) 12 TCCAATGAGCAGCAAGGAGAT 0.537000 20 73 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127692978 127692978 + Missense_Mutation SNP C C G TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr5:127692978C>G ENST00000508053.1 - 26 3638 c.2664G>C c.(2662-2664)ttG>ttC p.L888F FBN2_ENST00000262464.4_Missense_Mutation_p.L888F|FBN2_ENST00000508989.1_Missense_Mutation_p.L855F P35556 FBN2_HUMAN fibrillin 2 888 EGF-like 13; 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) CAATACAGATCAATCCTGTGG 0.423000 5 20 0 0 1 0 0 UBA6 55236 broad.mit.edu 37 4 68500167 68500167 + Missense_Mutation SNP T T C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr4:68500167T>C ENST00000322244.4 - 21 1971 c.1912A>G c.(1912-1914)Ata>Gta p.I638V NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 638 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 GCCCACTGTATGGTATGTTCA 0.323000 7 34 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76633398 76633398 + Missense_Mutation SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr6:76633398C>T ENST00000369950.3 - 16 2458 c.2269G>A c.(2269-2271)Gca>Aca p.A757T IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 757 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) GTTTTGTATGCTTGATTTTCA 0.303000 3 9 0 0 1 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140308636 140308636 + Missense_Mutation SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr5:140308636G>A ENST00000253807.2 + 1 2159 c.2159G>A c.(2158-2160)cGc>cAc p.R720H PCDHA13_ENST00000289272.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R720H|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCTGCTGTCGCTCTACAGAG 0.468000 20 72 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142151312 142151312 + Missense_Mutation SNP G G T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr8:142151312G>T ENST00000519811.1 + 4 582 c.512G>T c.(511-513)tGt>tTt p.C171F DENND3_ENST00000518347.1_Missense_Mutation_p.C171F|DENND3_ENST00000424248.1_Missense_Mutation_p.C91F|DENND3_ENST00000262585.2_Missense_Mutation_p.C91F A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 91 DENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) GATGAGTACTGTTTCTACAAT 0.527000 9 130 0.00621372 0.00642798 1 1 0 DMD 1756 broad.mit.edu 37 X 31697647 31697647 + Missense_Mutation SNP G G T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chrX:31697647G>T ENST00000357033.4 - 53 7923 c.7717C>A c.(7717-7719)Caa>Aaa p.Q2573K DMD_ENST00000541735.1_Missense_Mutation_p.Q113K|DMD_ENST00000359836.1_Missense_Mutation_p.Q113K|DMD_ENST00000343523.2_Missense_Mutation_p.Q113K|DMD_ENST00000474231.1_Missense_Mutation_p.Q113K|DMD_ENST00000378677.2_Missense_Mutation_p.Q2569K|DMD_ENST00000378707.3_Missense_Mutation_p.Q113K NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2573 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTCAACTGTTGCCTCCGGTTC 0.398000 4 11 0.000602214 0.000632325 1 1 0 HEATR1 55127 broad.mit.edu 37 1 236746421 236746421 + Missense_Mutation SNP C C G TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr1:236746421C>G ENST00000366582.3 - 18 2431 c.2317G>C c.(2317-2319)Gaa>Caa p.E773Q HEATR1_ENST00000366581.2_Missense_Mutation_p.E773Q NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 773 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TTGAGCTCTTCTACATAATGT 0.418000 16 170 0 0 1 0 0 IP6K3 117283 broad.mit.edu 37 6 33690670 33690670 + Missense_Mutation SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr6:33690670C>T ENST00000451316.1 - 7 1595 c.1060G>A c.(1060-1062)Ggt>Agt p.G354S IP6K3_ENST00000293756.4_Missense_Mutation_p.G354S NM_001142883.1 NP_001136355.1 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 354 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 GGAGAGCTACCGTGGGCTGCC 0.562000 54 60 0 0 1 0 0 FGFRL1 53834 broad.mit.edu 37 4 1018192 1018192 + Missense_Mutation SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr4:1018192G>A ENST00000398484.2 + 7 1392 c.812G>A c.(811-813)cGc>cAc p.R271H FGFRL1_ENST00000510644.1_Missense_Mutation_p.R271H|FGFRL1_ENST00000264748.6_Missense_Mutation_p.R271H|FGFRL1_ENST00000504138.1_Missense_Mutation_p.R271H Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 271 Ig-like C2-type 3. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) TGCAAGGTGCGCAGCGACGTG 0.662000 4 113 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142151311 142151311 + Missense_Mutation SNP T T C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr8:142151311T>C ENST00000519811.1 + 4 581 c.511T>C c.(511-513)Tgt>Cgt p.C171R DENND3_ENST00000518347.1_Missense_Mutation_p.C171R|DENND3_ENST00000424248.1_Missense_Mutation_p.C91R|DENND3_ENST00000262585.2_Missense_Mutation_p.C91R A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 91 DENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) GGATGAGTACTGTTTCTACAA 0.522000 9 129 0 0 1 0 0 KLHL1 57626 broad.mit.edu 37 13 70275855 70275855 + Silent SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr13:70275855C>T ENST00000377844.4 - 11 2985 c.2226G>A c.(2224-2226)gtG>gtA p.V742V KLHL1_ENST00000545028.1_Silent_p.V549V NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 742 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TGATGACTACCACACAGGCAC 0.328000 4 13 0 0 1 0 0 DNALI1 7802 broad.mit.edu 37 1 38023218 38023218 + Silent SNP A A G TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr1:38023218A>G ENST00000296218.7 + 2 172 c.162A>G c.(160-162)aaA>aaG p.K54K DNALI1_ENST00000541606.1_5'UTR NM_003462.3 NP_003453.2 O14645 IDLC_HUMAN dynein, axonemal, light intermediate chain 1 32 S -> P (in Ref. 3; CAI46082). cellular component movement|single fertilization axonemal dynein complex microtubule motor activity breast(1)|kidney(1)|large_intestine(2)|ovary(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGCTACTGAAAGTCAGCCCCC 0.572000 22 215 0 0 1 0 0 CTSA 5476 broad.mit.edu 37 20 44520385 44520385 + Missense_Mutation SNP A A G TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr20:44520385A>G ENST00000372484.3 + 2 514 c.232A>G c.(232-234)Aag>Gag p.K78E CTSA_ENST00000372459.2_Missense_Mutation_p.K60E|CTSA_ENST00000354880.5_Missense_Mutation_p.K78E|CTSA_ENST00000191018.5_Missense_Mutation_p.K60E NM_000308.2|NM_001127695.1 NP_000299.2|NP_001121167.1 P10619 PPGB_HUMAN cathepsin A 60 intracellular protein transport|proteolysis endoplasmic reticulum|lysosome|nucleus enzyme activator activity|protein binding|serine-type carboxypeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) CTCCGGCTCCAAGCACCTCCA 0.652000 19 186 0 0 1 0 0 TDP1 55775 broad.mit.edu 37 14 90450869 90450869 + Silent SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr14:90450869G>A ENST00000335725.4 + 9 1144 c.894G>A c.(892-894)ttG>ttA p.L298L TDP1_ENST00000393452.3_Silent_p.L298L|TDP1_ENST00000357382.3_Silent_p.L59L|TDP1_ENST00000555880.1_Silent_p.L298L|TDP1_ENST00000393454.2_Silent_p.L298L NM_018319.3 NP_060789.2 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 298 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1) 25 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) GAATATGGTTGAGCCCCTTAT 0.388000 Repair of DNA-protein crosslinks 16 139 0 0 1 0 0 ADD3 120 broad.mit.edu 37 10 111893128 111893128 + Missense_Mutation SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr10:111893128C>T ENST00000277900.8 + 14 2142 c.1777C>T c.(1777-1779)Cct>Tct p.P593S ADD3_ENST00000356080.4_Missense_Mutation_p.P625S|ADD3_ENST00000360162.3_Missense_Mutation_p.P593S NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 625 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) CATGGAAGTGCCTGTCATGGT 0.403000 12 133 0 0 1 0 0 ZNF619 285267 broad.mit.edu 37 3 40529725 40529725 + Missense_Mutation SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr3:40529725C>T ENST00000447116.2 + 6 2151 c.1844C>T c.(1843-1845)tCc>tTc p.S615F ZNF619_ENST00000314686.5_Missense_Mutation_p.S559F|ZNF619_ENST00000521353.1_Missense_Mutation_p.S615F|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000432264.2_Missense_Mutation_p.S575F|ZNF619_ENST00000456778.1_Missense_Mutation_p.S531F|ZNF619_ENST00000522736.1_Missense_Mutation_p.S566F|ZNF619_ENST00000429348.2_Missense_Mutation_p.S575F NM_001145082.2 NP_001138554.1 E9PCD9 E9PCD9_HUMAN zinc finger protein 619 615 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) TTGTCTCACTCCCTGTAAGCC 0.468000 19 51 0 0 1 0 0 TSHR 7253 broad.mit.edu 37 14 81610369 81610369 + Missense_Mutation SNP T T C TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr14:81610369T>C ENST00000541158.2 + 11 2289 c.1967T>C c.(1966-1968)gTt>gCt p.V656A TSHR_ENST00000298171.2_Missense_Mutation_p.V656A|RP11-114N19.3_ENST00000557775.1_RNA P16473 TSHR_HUMAN thyroid stimulating hormone receptor 656 V -> F (in TTNs). cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) CTCATCACTGTTAGCAACTCC 0.463000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 50 134 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 40 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46657035 46657035 + Silent SNP G G A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr6:46657035G>A ENST00000544460.1 + 1 1424 c.1170G>A c.(1168-1170)cgG>cgA p.R390R TDRD6_ENST00000316081.6_Silent_p.R390R NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 390 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GCTGGTCTCGGTCACAGGTCG 0.498000 40 78 0 0 1 0 0 GRAMD2 196996 broad.mit.edu 37 15 72455669 72455669 + Missense_Mutation SNP C C A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr15:72455669C>A ENST00000309731.7 - 10 907 c.894G>T c.(892-894)gaG>gaT p.E298D GRAMD2_ENST00000564184.1_5'UTR NM_001012642.2 NP_001012660.1 Q8IUY3 GRAM2_HUMAN GRAM domain containing 2 298 integral to membrane cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 13 TGCTCCTGGGCTCCTCCTCCA 0.592000 6 71 2.0095e-06 2.24465e-06 1 1 0 LOC101928650 101928650 broad.mit.edu 37 1 170501106 170501107 + RNA DEL GA GA - TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr1:170501106_170501107delGA ENST00000421020.1 - 0 34_35 RP11-576I22.2_ENST00000456083.1_RNA GAGAAACAATGAGAGAGAGAGA 0.505 2 4 --- --- --- --- DNAJB2 3300 broad.mit.edu 37 2 220146750 220146750 + Frame_Shift_Del DEL T T - TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr2:220146750delT ENST00000336576.5 + 5 607 c.319delT c.(319-321)ttfs p.F107fs DNAJB2_ENST00000392086.4_Frame_Shift_Del_p.F107fs|DNAJB2_ENST00000463463.1_3'UTR NM_006736.5 NP_006727.2 P25686 DNJB2_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 2 107 ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein inclusion body heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 Renal(207;0.0474) Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCGGGAATTCTTTGGGAGTGG 0.592 15 64 --- --- --- --- MTERFD2 130916 broad.mit.edu 37 2 242035790 242035790 + Frame_Shift_Del DEL A A - TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr2:242035790delA ENST00000391980.2 - 4 827 c.769delT c.(769-771)cafs p.S257fs MTERFD2_ENST00000406593.1_Frame_Shift_Del_p.S69fs|MTERFD2_ENST00000495694.1_Intron NM_182501.3 NP_872307.2 Q7Z6M4 MTER2_HUMAN MTERF domain containing 2 257 endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3) 20 all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886) TTGGTTAGTGAATACTGCAAG 0.458 19 103 --- --- --- --- NKIRAS1 28512 broad.mit.edu 37 3 23934814 23934815 + Frame_Shift_Ins INS - - A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr3:23934814_23934815insA ENST00000443659.2 - 4 1127_1128 c.350_351insT c.(349-351)gttfs p.V117fs NKIRAS1_ENST00000416026.2_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000425478.2_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000415901.2_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000388759.3_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000421515.2_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000412028.1_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000437230.1_Frame_Shift_Ins_p.V117fs Q9NYS0 KBRS1_HUMAN NFKB inhibitor interacting Ras-like 1 117 I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 7 TGTTTCCTAATACCACAATTGC 0.431 24 61 --- --- --- --- HGD 3081 broad.mit.edu 37 3 120365841 120365841 + Frame_Shift_Del DEL G G - TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr3:120365841delG ENST00000283871.5 - 8 987 c.528delC c.(526-528)ccfs p.P176fs NM_000187.3 NP_000178.2 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 176 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) AGATCTCATTGGGCTGTACAA 0.473 10 131 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187557272 187557273 + Frame_Shift_Ins INS - - A TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr4:187557272_187557273insA ENST00000441802.2 - 6 4298_4299 c.4089_4090insT c.(4087-4092)ttccttfs p.L1364fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1364 Cadherin 12. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ACAGTAAAGGTAAAAAATGATT 0.460 HNSCC(5;0.00058) 10 35 --- --- --- --- HLA-DRB6 3128 broad.mit.edu 37 6 32521065 32521065 + RNA DEL C C - rs147140742 by1000genomes TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr6:32521065delC ENST00000411500.1 - 0 875 NR_001298.1 CAAAGTCTTTCCTATTATTTC 0.428 3 4 --- --- --- --- SNTG1 54212 broad.mit.edu 37 8 51571223 51571224 + Splice_Site INS - - GTAT TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr8:51571223_51571224insGTAT ENST00000522124.1 + 15 1699 c.1038_splice c.e15+1 p.K346_splice SNTG1_ENST00000276467.5_Splice_Site_p.K346_splice|SNTG1_ENST00000518864.1_Splice_Site_p.K346_splice|SNTG1_ENST00000517473.1_Splice_Site_p.K346_splice NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 346 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) AGATCCTCAAGGTATGATCAAT 0.371 7 60 --- --- --- --- SLF2 55719 broad.mit.edu 37 10 102697158 102697159 + Splice_Site INS - - AT TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr10:102697158_102697159insAT ENST00000238961.3 + 10 2584_2585 c.e10-1 FAM178A_ENST00000370269.3_Splice_Site NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A GCTTTTGACAGATGATGTCAGT 0.322 9 75 --- --- --- --- PICALM 8301 broad.mit.edu 37 11 85692227 85692227 + Frame_Shift_Del DEL C C - TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4de11b7-68fb-48b4-85eb-f136fa23f1a0 cad477ab-52f1-4ef5-aa19-90980f9b7e45 g.chr11:85692227delC ENST00000526033.1 - 17 2019 c.1703delG c.(1702-1704)gafs p.G568fs PICALM_ENST00000393346.3_Frame_Shift_Del_p.G575fs|PICALM_ENST00000356360.5_Frame_Shift_Del_p.G575fs|PICALM_ENST00000532317.1_Frame_Shift_Del_p.G525fs|PICALM_ENST00000528398.1_Frame_Shift_Del_p.G474fs NM_001206946.1|NM_007166.3 NP_001193875.1|NP_009097.2 Q13492 PICAL_HUMAN phosphatidylinositol binding clathrin assembly protein 575 clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) CCAGTTAGATCCCCCAGTTAA 0.358 T """MLLT10, MLL""" """TALL, AML, """ 9 44 --- --- --- ---