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 CHM 1121 broad.mit.edu 37 X 85218989 85218989 + Missense_Mutation SNP G G T TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chrX:85218989G>T ENST00000357749.2 - 5 412 c.383C>A c.(382-384)gCa>gAa p.A128E CHM_ENST00000467744.1_Intron|CHM_ENST00000537751.1_5'UTR NM_000390.2 NP_000381.1 P24386 RAE1_HUMAN choroideremia (Rab escort protein 1) 128 intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1) 20 all_lung(315;5.41e-06) TGTGGAGTTTGCAGATGTCAC 0.433000 20 65 2.4624e-09 2.83762e-09 1 1 0 SORCS3 22986 broad.mit.edu 37 10 106737173 106737173 + Silent SNP G G T TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr10:106737173G>T ENST00000369701.3 + 4 1103 c.876G>T c.(874-876)cgG>cgT p.R292R NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 292 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AGAAGTATCGGCTCACCTTCT 0.448000 24 37 1.10923e-09 1.29055e-09 1 1 0 KCNQ2 3785 broad.mit.edu 37 20 62071033 62071033 + Missense_Mutation SNP T T C TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr20:62071033T>C ENST00000354587.3 - 6 1021 c.845A>G c.(844-846)gAc>gGc p.D282G KCNQ2_ENST00000344425.5_Missense_Mutation_p.D282G|KCNQ2_ENST00000370221.1_Missense_Mutation_p.D282G|KCNQ2_ENST00000370222.3_Missense_Mutation_p.D282G|KCNQ2_ENST00000357249.2_Missense_Mutation_p.D282G|KCNQ2_ENST00000359125.2_Missense_Mutation_p.D282G|KCNQ2_ENST00000370224.1_Missense_Mutation_p.D282G|KCNQ2_ENST00000344462.3_Missense_Mutation_p.D282G|KCNQ2_ENST00000370226.1_Missense_Mutation_p.D282G|KCNQ2_ENST00000359689.1_Missense_Mutation_p.D282G|KCNQ2_ENST00000360480.3_Missense_Mutation_p.D282G|KCNQ2_ENST00000430658.1_Missense_Mutation_p.D282G O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 282 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) GGGGTACTTGTCCCCGTAGCC 0.642000 42 51 0 0 1 0 0 CDYL2 124359 broad.mit.edu 37 16 80667073 80667073 + Missense_Mutation SNP G G A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr16:80667073G>A ENST00000299564.8 - 3 832 c.677C>T c.(676-678)gCg>gTg p.A226V CDYL2_ENST00000563890.1_Missense_Mutation_p.A227V|CDYL2_ENST00000566173.1_Missense_Mutation_p.A227V|CDYL2_ENST00000562812.1_Missense_Mutation_p.A227V NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 226 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 GTCCTTCTCCGCTTCCAGCTT 0.488000 39 62 0 0 1 0 0 LRTM2 654429 broad.mit.edu 37 12 1943730 1943730 + Missense_Mutation SNP G G T TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr12:1943730G>T ENST00000543818.1 + 5 1798 c.956G>T c.(955-957)gGc>gTc p.G319V CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.G319V|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.G319V|CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000543730.1_3'UTR NM_001039029.2|NM_001163925.1|NM_001163926.1 NP_001034118.1|NP_001157397.1|NP_001157398.1 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 319 integral to membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 20 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) GTCGTGTGCGGCGTCGTCTGC 0.662000 24 43 7.33628e-21 9.15144e-21 1 1 0 CAP1 10487 broad.mit.edu 37 1 40535481 40535481 + Missense_Mutation SNP T T C TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr1:40535481T>C ENST00000372797.3 + 9 1489 c.928T>C c.(928-930)Tcc>Ccc p.S310P CAP1_ENST00000372792.2_Missense_Mutation_p.S310P|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000372798.1_Missense_Mutation_p.S309P|CAP1_ENST00000372802.1_Missense_Mutation_p.S309P|CAP1_ENST00000372805.3_Missense_Mutation_p.S310P|CAP1_ENST00000340450.3_Missense_Mutation_p.S309P NM_001105530.1|NM_006367.3 NP_001099000.1|NP_006358.1 Q01518 CAP1_HUMAN CAP, adenylate cyclase-associated protein 1 (yeast) 310 activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction plasma membrane actin binding endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AACCAGCCCATCCCCCAAACG 0.522000 9 46 0 0 1 0 0 APLP1 333 broad.mit.edu 37 19 36363454 36363454 + Missense_Mutation SNP A A C TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr19:36363454A>C ENST00000221891.4 + 7 1112 c.920A>C c.(919-921)cAc>cCc p.H307P APLP1_ENST00000537454.2_Missense_Mutation_p.H268P|APLP1_ENST00000586861.1_Missense_Mutation_p.H301P NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 307 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ATCAGTGAGCACGAGGGGTTC 0.577000 59 122 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561627 11561627 + Missense_Mutation SNP A A C TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr1:11561627A>C ENST00000294484.6 + 2 716 c.578A>C c.(577-579)cAa>cCa p.Q193P PTCHD2_ENST00000389575.3_Missense_Mutation_p.Q193P NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 193 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) TCCGCGGCTCAAAAGCCCACA 0.697000 10 11 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr3:178936091G>A ENST00000263967.3 + 10 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(881)|p.E545Q(18) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 59 33 0 0 1 0 0 BACH1 571 broad.mit.edu 37 21 30699670 30699670 + Missense_Mutation SNP G G A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr21:30699670G>A ENST00000399921.1 + 3 1768 c.1525G>A c.(1525-1527)Gaa>Aaa p.E509K BACH1_ENST00000286800.3_Missense_Mutation_p.E509K NM_206866.1 NP_996749.1 O14867 BACH1_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 1 509 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2) 27 GACGGACACCGAAGGAGACAG 0.413000 50 90 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124157746 124157746 + Silent SNP C C G TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr3:124157746C>G ENST00000360013.3 + 18 3181 c.3054C>G c.(3052-3054)gtC>gtG p.V1018V KALRN_ENST00000240874.3_Silent_p.V1018V|KALRN_ENST00000460856.1_Silent_p.V1009V NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1018 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TGTGTAGTGTCCTGGAGAGCT 0.458000 10 28 0 0 1 0 0 CYP2A6 1548 broad.mit.edu 37 19 41354625 41354625 + Silent SNP G G A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr19:41354625G>A ENST00000301141.5 - 3 407 c.387C>T c.(385-387)cgC>cgT p.R129R CTC-490E21.12_ENST00000601627.1_Intron NM_000762.5 NP_000753.3 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 6 129 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2) 37 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) CGATGGAGAAGCGCCGGAGCT 0.706000 23 52 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141459290 141459290 + Splice_Site SNP C C A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr2:141459290C>A ENST00000389484.3 - 40 7398 c.6427_splice c.e40+1 p.G2143_splice NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2143 EGF-like 5. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GAGTGCTGACCTTTCTCTCTT 0.348000 TSP Lung(27;0.18) 42 21 7.63091e-17 9.32667e-17 1 1 0 GATS 352954 broad.mit.edu 37 7 99821545 99821545 + Missense_Mutation SNP G G A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr7:99821545G>A ENST00000436886.2 - 3 619 c.371C>T c.(370-372)tCc>tTc p.S124F GATS_ENST00000543273.1_RNA NM_178831.6 NP_849153.3 Q8NAP1 GATS_HUMAN 124 endometrium(2)|large_intestine(2)|lung(4) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CATGAACACGGATATGTTCTG 0.572000 38 81 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153247366 153247366 + Missense_Mutation SNP C C T TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr4:153247366C>T ENST00000281708.4 - 10 2665 c.1436G>A c.(1435-1437)cGa>cAa p.R479Q FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 479 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) AGTGGCATCTCGAGAACCGCT 0.403000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 28 50 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200954026 200954026 + Missense_Mutation SNP C C T TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr1:200954026C>T ENST00000332129.2 - 27 4080 c.3764G>A c.(3763-3765)cGt>cAt p.R1255H KIF21B_ENST00000461742.2_Missense_Mutation_p.R1255H|KIF21B_ENST00000422435.2_Missense_Mutation_p.R1255H|KIF21B_ENST00000360529.5_Missense_Mutation_p.R1255H NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1255 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 ACTGGTGAGACGAGAGAAGAC 0.622000 22 24 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48234310 48234310 + Missense_Mutation SNP C C A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr16:48234310C>A ENST00000394747.1 - 14 2308 c.1959G>T c.(1957-1959)caG>caT p.Q653H ABCC11_ENST00000353782.5_Missense_Mutation_p.Q653H|ABCC11_ENST00000356608.2_Missense_Mutation_p.Q653H|ABCC11_ENST00000394748.1_Missense_Mutation_p.Q653H|ABCC11_ENST00000537808.1_Missense_Mutation_p.Q653H NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 653 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GCAGGTAGATCTGACGGTCGG 0.592000 22 31 2.54575e-18 3.14322e-18 1 1 0 KIRREL2 84063 broad.mit.edu 37 19 36350480 36350480 + Missense_Mutation SNP G G A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr19:36350480G>A ENST00000360202.5 + 5 818 c.620G>A c.(619-621)cGg>cAg p.R207Q NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Missense_Mutation_p.R207Q|KIRREL2_ENST00000592409.1_Missense_Mutation_p.R207Q|KIRREL2_ENST00000347900.6_Missense_Mutation_p.R157Q|KIRREL2_ENST00000586102.2_Intron NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 207 Ig-like C2-type 2. cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGCCGGGCCCGGAGCCAGGCC 0.627000 34 43 0 0 1 0 0 JPH3 57338 broad.mit.edu 37 16 87678395 87678395 + Missense_Mutation SNP G G A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr16:87678395G>A ENST00000284262.2 + 2 1156 c.914G>A c.(913-915)cGc>cAc p.R305H NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 305 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) GTGAGCCAGCGCTCGGACGGG 0.662000 31 57 0 0 1 0 0 HSPB2 3316 broad.mit.edu 37 11 111784181 111784181 + Missense_Mutation SNP G G T rs145827670 by1000genomes TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr11:111784181G>T ENST00000304298.3 + 2 699 c.111G>T c.(109-111)gaG>gaT p.E37D HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000527950.1_Intron|HSPB2_ENST00000537382.1_Missense_Mutation_p.E37D|CRYAB_ENST00000533475.1_Intron NM_001541.3 NP_001532.1 Q16082 HSPB2_HUMAN heat shock 27kDa protein 2 37 response to heat|response to unfolded protein cytosol|nucleus enzyme activator activity|protein binding large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051) TGCCAGAAGAGATCCTGACCC 0.637000 84 257 8.2577e-42 1.08607e-41 1 1 0 NCOR2 9612 broad.mit.edu 37 12 124832754 124832754 + Silent SNP G G T TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr12:124832754G>T ENST00000356219.3 - 30 4127 c.3972C>A c.(3970-3972)cgC>cgA p.R1324R NCOR2_ENST00000404621.1_Silent_p.R1307R|NCOR2_ENST00000404121.2_Silent_p.R878R|NCOR2_ENST00000429285.2_Silent_p.R1307R|NCOR2_ENST00000397355.1_Silent_p.R1308R|NCOR2_ENST00000405201.1_Silent_p.R1317R NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 1325 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CTCTGCCCACGCGGCCCTCCA 0.652000 OREG0022238 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 46 1.66031e-10 1.96958e-10 1 1 0 CR2 1380 broad.mit.edu 37 1 207649600 207649600 + Missense_Mutation SNP C C T TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr1:207649600C>T ENST00000367057.3 + 15 2927 c.2738C>T c.(2737-2739)cCg>cTg p.P913L CR2_ENST00000367059.3_Intron|CR2_ENST00000367058.3_Missense_Mutation_p.P854L|CR2_ENST00000458541.2_Missense_Mutation_p.P827L NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 854 Sushi 15. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 TGTCCACCTCCGCCTAAGACC 0.493000 16 50 0 0 1 0 0 RAVER1 125950 broad.mit.edu 37 19 10428261 10428261 + Missense_Mutation SNP G G T TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr19:10428261G>T ENST00000293677.6 - 13 2221 c.2140C>A c.(2140-2142)Cag>Aag p.Q714K CTD-2369P2.12_ENST00000586529.1_Missense_Mutation_p.Q115K NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 0 cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) CTGCGTTTCTGGCCGCCCAGT 0.741000 15 18 7.93312e-07 8.80649e-07 1 1 0 ATP7B 540 broad.mit.edu 37 13 52524492 52524492 + Missense_Mutation SNP C C T TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr13:52524492C>T ENST00000242839.4 - 10 2647 c.2491G>A c.(2491-2493)Gtc>Atc p.V831I ATP7B_ENST00000448424.2_Missense_Mutation_p.V753I|ATP7B_ENST00000344297.5_Missense_Mutation_p.V669I|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000417240.2_Missense_Mutation_p.V103I|ATP7B_ENST00000418097.2_Missense_Mutation_p.V831I|ATP7B_ENST00000400366.3_Missense_Mutation_p.V720I NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 831 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) ACCACCTTGACGATATCGCCC 0.557000 Wilson disease 11 33 0 0 1 0 0 C17orf74 201243 broad.mit.edu 37 17 7330538 7330538 + Missense_Mutation SNP G G C TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr17:7330538G>C ENST00000333870.3 + 3 1302 c.1228G>C c.(1228-1230)Gcc>Ccc p.A410P C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA NM_175734.4 NP_783861.3 Q0P670 CQ074_HUMAN chromosome 17 open reading frame 74 410 integral to membrane cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 22 Prostate(122;0.157) GTTGGACGAGGCCTCCCATCA 0.697000 13 33 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117676917 117676917 + Missense_Mutation SNP C C T TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chrX:117676917C>T ENST00000276204.6 + 3 322 c.248C>T c.(247-249)aCg>aTg p.T83M DOCK11_ENST00000276202.7_Missense_Mutation_p.T83M Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 83 Interaction with activated CDC42 (By similarity). blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 CAACGCAGAACGGTGCAGTCT 0.398000 18 64 0 0 1 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58253014 58253014 + Missense_Mutation SNP G G T TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr15:58253014G>T ENST00000249750.4 - 12 2205 c.1438C>A c.(1438-1440)Cag>Aag p.Q480K ALDH1A2_ENST00000559517.1_Missense_Mutation_p.Q384K|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.Q459K|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.Q442K|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.Q451K NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 480 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) AAGGGGCTCTGGGCATTTAAG 0.418000 21 29 3.62473e-10 4.25818e-10 1 1 0 TAPT1-AS1 202020 broad.mit.edu 37 4 16258163 16258163 + RNA SNP C C T rs10027456 by1000genomes TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr4:16258163C>T ENST00000570786.1 + 0 518 TAPT1-AS1_ENST00000573950.1_RNA|TAPT1-AS1_ENST00000573308.1_RNA NR_027696.1 ACGAACTCGCCGGCGTTGTTC 0.607000 3 23 0 0 1 0 0 MEF2C 4208 broad.mit.edu 37 5 88047695 88047695 + Missense_Mutation SNP G G A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr5:88047695G>A ENST00000504921.2 - 5 1240 c.568C>T c.(568-570)Cct>Tct p.P190S MEF2C_ENST00000437473.2_Missense_Mutation_p.P190S|MEF2C_ENST00000514015.1_Missense_Mutation_p.P190S|MEF2C_ENST00000424173.2_Missense_Mutation_p.P188S|MEF2C_ENST00000514028.1_Missense_Mutation_p.P190S|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000508569.1_Missense_Mutation_p.P190S|MEF2C_ENST00000340208.5_Missense_Mutation_p.P208S|MEF2C_ENST00000506554.1_Missense_Mutation_p.P190S|MEF2C_ENST00000510942.1_Missense_Mutation_p.P190S|MEF2C_ENST00000539796.1_Missense_Mutation_p.P142S Q06413 MEF2C_HUMAN myocyte enhancer factor 2C 190 apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 40 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) GCACTTGGAGGTCGATGTGTT 0.473000 HNSCC(66;0.2) 56 130 0 0 1 0 0 UBE3B 89910 broad.mit.edu 37 12 109948218 109948218 + Missense_Mutation SNP G G A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr12:109948218G>A ENST00000342494.3 + 17 2406 c.1811G>A c.(1810-1812)cGg>cAg p.R604Q UBE3B_ENST00000434735.2_Missense_Mutation_p.R604Q|UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000280774.5_Missense_Mutation_p.R604Q NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 604 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 CTGTACGAGCGGGACTGCCGG 0.627000 5 12 0 0 1 0 0 CTSD 1509 broad.mit.edu 37 11 1780781 1780781 + Missense_Mutation SNP G G A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr11:1780781G>A ENST00000236671.2 - 3 449 c.317C>T c.(316-318)cCc>cTc p.P106L NM_001909.4 NP_001900.1 P07339 CATD_HUMAN cathepsin D 106 cell death|proteolysis extracellular space|lysosome|melanosome aspartic-type endopeptidase activity endometrium(1)|large_intestine(4)|lung(8) 13 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GTGGATGGAGGGGACCCACAG 0.657000 28 102 0 0 1 0 0 KLHL26 55295 broad.mit.edu 37 19 18775082 18775082 + Missense_Mutation SNP A A G TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr19:18775082A>G ENST00000300976.4 + 2 185 c.95A>G c.(94-96)aAg>aGg p.K32R KLHL26_ENST00000596843.1_3'UTR|KLHL26_ENST00000595182.1_Missense_Mutation_p.K32R|KLHL26_ENST00000599006.1_Missense_Mutation_p.K32R NM_018316.1 NP_060786.1 Q53HC5 KLH26_HUMAN kelch-like family member 26 32 breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 ACGGCCGACAAGAACGGGGCC 0.622000 46 118 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32509576 32509576 + Missense_Mutation SNP C C T TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chrX:32509576C>T ENST00000357033.4 - 20 2646 c.2440G>A c.(2440-2442)Gaa>Aaa p.E814K DMD_ENST00000378677.2_Missense_Mutation_p.E810K 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 814 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) TGGCAGAATTCGATCCACCGG 0.408000 19 43 0 0 1 0 0 SLC16A1 6566 broad.mit.edu 37 1 113459887 113459887 + Missense_Mutation SNP G G A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr1:113459887G>A ENST00000538576.1 - 4 1972 c.1141C>T c.(1141-1143)Ctt>Ttt p.L381F SLC16A1_ENST00000433570.4_Missense_Mutation_p.L381F|SLC16A1_ENST00000369626.3_Missense_Mutation_p.L381F NM_001166496.1 NP_001159968.1 P53985 MOT1_HUMAN solute carrier family 16 (monocarboxylate transporter), member 1 381 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1) 20 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) GGTCCAACAAGGTCCATCAAT 0.488000 15 28 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88752206 88752206 + RNA SNP G G A rs1745903 by1000genomes TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr10:88752206G>A ENST00000444431.1 + 0 44 RP11-96C23.5_ENST00000433214.2_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding CTGCTGTGGGGATGGCTTGAT 0.423000 3 26 0 0 1 0 0 LILRB3 11025 broad.mit.edu 37 19 54726840 54726840 + Silent SNP G G A rs144205480 byFrequency TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr19:54726840G>A ENST00000391750.1 - 2 145 c.9C>T c.(7-9)ccC>ccT p.P3P LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000245620.9_Silent_p.P3P|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000346401.6_Silent_p.P3P|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000407860.2_Intron|LILRB3_ENST00000424807.1_Silent_p.P3P|LILRA6_ENST00000419410.2_Intron O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 3 cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGTGAGGGCGGGCGTCATGG 0.642000 12 64 0 0 1 0 0 DGAT2L6 347516 broad.mit.edu 37 X 69420163 69420163 + Missense_Mutation SNP A A C TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chrX:69420163A>C ENST00000333026.3 + 4 426 c.326A>C c.(325-327)cAt>cCt p.H109P NM_198512.1 NP_940914.1 Q6ZPD8 DG2L6_HUMAN diacylglycerol O-acyltransferase 2-like 6 109 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1) 12 AATCACCCCCATGGCATTCTC 0.463000 27 54 0 0 1 0 0 GP1BA 2811 broad.mit.edu 37 17 4836597 4836597 + Missense_Mutation SNP G G A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr17:4836597G>A ENST00000329125.5 + 2 773 c.698G>A c.(697-699)cGt>cAt p.R233H NM_000173.5 NP_000164.5 E7ES66 E7ES66_HUMAN glycoprotein Ib (platelet), alpha polypeptide 233 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1) 20 CTCTATTTTCGTCGCTGGCTG 0.498000 28 54 0 0 1 0 0 KBTBD3 143879 broad.mit.edu 37 11 105924557 105924557 + Missense_Mutation SNP C C A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr11:105924557C>A ENST00000526793.1 - 3 1018 c.859G>T c.(859-861)Gat>Tat p.D287Y KBTBD3_ENST00000531837.1_Missense_Mutation_p.D287Y|KBTBD3_ENST00000534815.1_Missense_Mutation_p.D208Y NM_152433.3 NP_689646.2 Q8NAB2 KBTB3_HUMAN kelch repeat and BTB (POZ) domain containing 3 283 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 25 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) GGTCGAGCATCAGGGAAGAGT 0.358000 73 78 1.356e-25 1.72712e-25 1 1 0 TBL1X 6907 broad.mit.edu 37 X 9659730 9659730 + Missense_Mutation SNP T T G TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chrX:9659730T>G ENST00000217964.7 + 8 1368 c.728T>G c.(727-729)gTc>gGc p.V243G TBL1X_ENST00000380961.1_Missense_Mutation_p.V192G|TBL1X_ENST00000424279.1_Missense_Mutation_p.V192G|TBL1X_ENST00000536365.1_Missense_Mutation_p.V192G|TBL1X_ENST00000407597.2_Missense_Mutation_p.V243G NM_005647.3 NP_005638.1 O60907 TBL1X_HUMAN transducin (beta)-like 1X-linked 243 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2) 20 Hepatocellular(5;0.000888) TGGAATCCTGTCAGTGATTTG 0.547000 25 46 0 0 1 0 0 CLCN5 1184 broad.mit.edu 37 X 49840630 49840630 + Missense_Mutation SNP C C A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chrX:49840630C>A ENST00000376088.3 + 7 1237 c.596C>A c.(595-597)aCa>aAa p.T199K CLCN5_ENST00000376108.3_Missense_Mutation_p.T129K|CLCN5_ENST00000307367.2_Missense_Mutation_p.T129K|CLCN5_ENST00000376091.3_Missense_Mutation_p.T199K NM_001127898.1|NM_001127899.1 NP_001121370.1|NP_001121371.1 P51795 CLCN5_HUMAN chloride channel, voltage-sensitive 5 129 excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1) 30 Ovarian(276;0.236) ATCATCAGCACAGATGAGGTA 0.388000 22 55 8.10497e-08 9.2519e-08 1 1 0 SEC11C 90701 broad.mit.edu 37 18 56816786 56816786 + Silent SNP T T C TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr18:56816786T>C ENST00000587834.1 + 2 601 c.129T>C c.(127-129)tcT>tcC p.S43S SEC11C_ENST00000588875.1_Silent_p.S43S NM_033280.2 NP_150596.1 Q9BY50 SC11C_HUMAN SEC11 homolog C (S. cerevisiae) 43 energy reserve metabolic process|regulation of insulin secretion|signal peptide processing endoplasmic reticulum membrane|integral to membrane|microsome serine-type peptidase activity endometrium(1)|large_intestine(4)|liver(2)|lung(2) 9 Colorectal(73;0.175) TCGTGTCTTCTGCACTCATGA 0.507000 5 65 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42174866 42174866 + Silent SNP G G A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr15:42174866G>A ENST00000320955.6 - 10 2190 c.1963C>T c.(1963-1965)Ctg>Ttg p.L655L NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 655 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CACTCCTTCAGCCAGGCTTCC 0.667000 6 10 0 0 1 0 0 PROM1 8842 broad.mit.edu 37 4 16000015 16000015 + Missense_Mutation SNP C C A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr4:16000015C>A ENST00000505450.1 - 14 2260 c.1648G>T c.(1648-1650)Gtt>Ttt p.V550F PROM1_ENST00000540805.1_Missense_Mutation_p.V559F|PROM1_ENST00000508167.1_Missense_Mutation_p.V550F|PROM1_ENST00000543373.1_Missense_Mutation_p.V550F|PROM1_ENST00000539194.1_Missense_Mutation_p.V559F|PROM1_ENST00000447510.2_Missense_Mutation_p.V559F|PROM1_ENST00000510224.1_Missense_Mutation_p.V559F NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 559 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 TACCTGTAAACTTGTTCAAAA 0.294000 7 13 0.000157383 0.00017003 1 1 0 ST6GALNAC2 10610 broad.mit.edu 37 17 74569351 74569351 + Silent SNP G G A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr17:74569351G>A ENST00000225276.5 - 4 775 c.456C>T c.(454-456)gcC>gcT p.A152A ST6GALNAC2_ENST00000586520.1_5'UTR NM_006456.2 NP_006447.2 Q9UJ37 SIA7B_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 152 protein glycosylation integral to Golgi membrane sialyltransferase activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 11 TGCCCACCACGGCACACCGGA 0.607000 6 9 0 0 1 0 0 AKAP14 158798 broad.mit.edu 37 X 119037536 119037536 + Missense_Mutation SNP A A C TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chrX:119037536A>C ENST00000371431.3 + 4 522 c.248A>C c.(247-249)gAc>gCc p.D83A AKAP14_ENST00000371423.2_Missense_Mutation_p.D83A|AKAP14_ENST00000334356.2_Missense_Mutation_p.D83A|AKAP14_ENST00000371425.4_Missense_Mutation_p.D83A|AKAP14_ENST00000394594.2_Missense_Mutation_p.D83A|AKAP14_ENST00000371422.1_Missense_Mutation_p.D83A NM_178813.5 NP_848928.1 Q86UN6 AKA28_HUMAN A kinase (PRKA) anchor protein 14 83 cytoplasm endometrium(4)|large_intestine(1)|lung(8) 13 AAACAAATTGACGAATATTTT 0.418000 21 43 0 0 1 0 0 APC2 10297 broad.mit.edu 37 19 1465950 1465950 + Missense_Mutation SNP C C T TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr19:1465950C>T ENST00000535453.1 + 14 4363 c.2650C>T c.(2650-2652)Cca>Tca p.P884S APC2_ENST00000238483.4_Missense_Mutation_p.P610S|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.P884S O95996 APC2_HUMAN adenomatosis polyposis coli 2 884 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2) 18 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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) ACAGGAGGCGCCACGGGAGGG 0.731000 6 8 0 0 1 0 0 SLC7A1 6541 broad.mit.edu 37 13 30110113 30110113 + Silent SNP C C A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr13:30110113C>A ENST00000380752.5 - 3 599 c.213G>T c.(211-213)ctG>ctT p.L71L NM_003045.4 NP_003036.1 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 71 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2) 24 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) GCGCAGCGATCAGGAAGGAGA 0.632000 13 40 0.00244969 0.00257751 1 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125285025 125285025 + Missense_Mutation SNP C C G TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr2:125285025C>G ENST00000431078.1 + 10 2002 c.1638C>G c.(1636-1638)atC>atG p.I546M NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 546 EGF-like 1. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TGTGTAGCATCAAAGACAGGT 0.403000 22 57 0 0 1 0 0 FCGR1B 2210 broad.mit.edu 37 1 120930249 120930249 + Missense_Mutation SNP C C T TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr1:120930249C>T ENST00000369384.4 - 4 394 c.352G>A c.(352-354)Gaa>Aaa p.E118K RP11-439A17.10_ENST00000426275.1_RNA|FCGR1B_ENST00000472543.1_5'UTR|RP11-439A17.9_ENST00000457996.1_RNA|FCGR1B_ENST00000369383.4_Missense_Mutation_p.E26K NM_001017986.3 NP_001017986.1 Q92637 FCGRB_HUMAN Fc fragment of IgG, high affinity Ib, receptor (CD64) 118 Ig-like C2-type 2. interferon-gamma-mediated signaling pathway integral to membrane|plasma membrane IgG binding|immunoglobulin receptor activity breast(1)|endometrium(1)|lung(2) 4 all_neural(166;0.181) all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068) Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19) GCCAGAGGTTCTCCTTCCATG 0.463000 45 114 0 0 1 0 0 SFTPD 6441 broad.mit.edu 37 10 81706258 81706258 + Missense_Mutation SNP C C T rs142564545 TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr10:81706258C>T ENST00000372292.3 - 2 198 c.158G>A c.(157-159)cGg>cAg p.R53Q NM_003019.4 NP_003010.4 P35247 SFTPD_HUMAN surfactant protein D 53 Collagen-like. cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis collagen|endocytic vesicle|extracellular space|lysosome bacterial cell surface binding|protein binding|sugar binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1) 17 Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027) Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109) TCTCCCATCCCGTCCATCGCG 0.597000 25 47 0 0 1 0 0 GDF5 8200 broad.mit.edu 37 20 34022217 34022217 + Silent SNP G G A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr20:34022217G>A ENST00000374372.1 - 4 1499 c.996C>T c.(994-996)gcC>gcT p.A332A GDF5OS_ENST00000374375.1_Silent_p.A87A|GDF5_ENST00000374369.3_Silent_p.A332A P43026 GDF5_HUMAN growth differentiation factor 5 332 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) CCTGCCGGGCGGCGCGGTCGA 0.637000 36 89 0 0 1 0 0 EVA1C 59271 broad.mit.edu 37 21 33830008 33830008 + Missense_Mutation SNP T T G TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr21:33830008T>G ENST00000300255.2 + 3 934 c.461T>G c.(460-462)gTc>gGc p.V154G EVA1C_ENST00000401402.3_Missense_Mutation_p.V154G|EVA1C_ENST00000382699.3_Missense_Mutation_p.V154G NM_058187.3 NP_478067.2 eva-1 homolog C (C. elegans) TACCTCCTGGTCTCCTTTAAA 0.522000 20 46 0 0 1 0 0 SPAG6 9576 broad.mit.edu 37 10 22680762 22680762 + Silent SNP C C T TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr10:22680762C>T ENST00000376603.2 + 8 1480 c.1338C>T c.(1336-1338)caC>caT p.H446H RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Silent_p.H131H|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000376624.3_Silent_p.H370H|SPAG6_ENST00000313311.6_Silent_p.H370H|SPAG6_ENST00000538630.1_Silent_p.H345H O75602 SPAG6_HUMAN sperm associated antigen 6 370 cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2) 27 CTCCTGAACACGCACGGGCTG 0.453000 16 34 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164780178 164780178 + Missense_Mutation SNP A A G TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr3:164780178A>G ENST00000264382.3 - 9 1063 c.1001T>C c.(1000-1002)gTa>gCa p.V334A NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 334 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CTGTTGAACTACTTGTTCTGG 0.333000 HNSCC(35;0.089) 18 63 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149515170 149515170 + RNA SNP C C G TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr7:149515170C>G ENST00000378016.2 + 0 11560 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTGCCGTGGGCCCCGCCAGGA 0.697000 5 10 0 0 1 0 0 PPFIA4 8497 broad.mit.edu 37 1 203044811 203044811 + Missense_Mutation SNP C C T TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr1:203044811C>T ENST00000367240.2 + 28 3964 c.3437C>T c.(3436-3438)cCg>cTg p.P1146L PPFIA4_ENST00000414050.2_Missense_Mutation_p.P874L|PPFIA4_ENST00000295706.4_Missense_Mutation_p.P652L|PPFIA4_ENST00000599966.1_Missense_Mutation_p.P652L|PPFIA4_ENST00000272198.6_Missense_Mutation_p.P661L|PPFIA4_ENST00000447715.2_Missense_Mutation_p.P1145L O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 661 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 GAGACCCTCCCGGCGGGCTTC 0.706000 6 9 0 0 1 0 0 ZNF449 203523 broad.mit.edu 37 X 134483099 134483099 + Missense_Mutation SNP C C A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chrX:134483099C>A ENST00000339249.4 + 3 559 c.419C>A c.(418-420)aCc>aAc p.T140N NM_152695.5 NP_689908.3 Q6P9G9 ZN449_HUMAN zinc finger protein 449 140 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) ATACCACCAACCATGCACCTA 0.567000 64 150 5.5144e-22 6.95045e-22 1 1 0 NFE2L2 4780 broad.mit.edu 37 2 178098975 178098975 + Missense_Mutation SNP A A G TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr2:178098975A>G ENST00000397062.3 - 2 624 c.70T>C c.(70-72)Tgg>Cgg p.W24R NFE2L2_ENST00000446151.2_Missense_Mutation_p.W8R|NFE2L2_ENST00000397063.4_Missense_Mutation_p.W8R|NFE2L2_ENST00000423513.1_Missense_Mutation_p.W8R|NFE2L2_ENST00000464747.1_Missense_Mutation_p.W8R NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 24 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.W24R(2) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TCTTGCCTCCAAAGTATGTCA 0.348000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 38 12 0 0 1 0 0 WIPF2 147179 broad.mit.edu 37 17 38412764 38412764 + Missense_Mutation SNP C C T TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr17:38412764C>T ENST00000323571.4 + 2 293 c.53C>T c.(52-54)aCa>aTa p.T18I WIPF2_ENST00000585043.1_Missense_Mutation_p.T18I|WIPF2_ENST00000494757.1_Intron|WIPF2_ENST00000536600.1_Missense_Mutation_p.T18I|WIPF2_ENST00000394103.3_Missense_Mutation_p.T18I|WIPF2_ENST00000583130.1_Missense_Mutation_p.T18I NM_133264.4 NP_573571.1 Q8TF74 WIPF2_HUMAN WAS/WASL interacting protein family, member 2 18 cytoplasm|cytoskeleton actin binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 30 CCACCTCCCACATTTCATCAG 0.468000 HNSCC(43;0.11) 33 57 0 0 1 0 0 ICAM1 3383 broad.mit.edu 37 19 10385558 10385558 + Missense_Mutation SNP C C T TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr19:10385558C>T ENST00000264832.3 + 2 510 c.185C>T c.(184-186)aCc>aTc p.T62I ICAM1_ENST00000423829.2_Intron|CTD-2369P2.5_ENST00000592893.1_RNA NM_000201.2 NP_000192.2 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 62 Ig-like C2-type 1. adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) GGCATAGAGACCCCGTTGCCT 0.537000 42 86 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533552 533552 + Missense_Mutation SNP C C A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr11:533552C>A ENST00000417302.1 - 4 538 c.351G>T c.(349-351)aaG>aaT p.K117N HRAS_ENST00000397594.1_Missense_Mutation_p.K117N|HRAS_ENST00000451590.1_Missense_Mutation_p.K117N|HRAS_ENST00000397596.2_Missense_Mutation_p.K117N|HRAS_ENST00000311189.7_Missense_Mutation_p.K117N NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 117 K -> R (in FCSS). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.K117N(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) CCAGGTCACACTTGTTCCCCA 0.632000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 74 127 1.15074e-40 1.4972e-40 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113275944 113275944 + Silent SNP G G C TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr8:113275944G>C ENST00000297405.5 - 61 10030 c.9786C>G c.(9784-9786)ggC>ggG p.G3262G CSMD3_ENST00000455883.2_Silent_p.G3093G|CSMD3_ENST00000352409.3_Silent_p.G3192G|CSMD3_ENST00000343508.3_Silent_p.G3222G NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3262 Sushi 25. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATAGCTCATAGCCTGGAGAAC 0.473000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 8 60 0 0 1 0 0 ZNF420 147923 broad.mit.edu 37 19 37618388 37618388 + Missense_Mutation SNP A A C TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr19:37618388A>C ENST00000337995.3 + 5 710 c.495A>C c.(493-495)aaA>aaC p.K165N ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.K165N NM_144689.3 NP_653290.2 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTGGTGAAAAACCCTATGAAT 0.423000 28 54 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123810742 123810742 + Missense_Mutation SNP T T A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr11:123810742T>A ENST00000307033.2 + 1 493 c.419T>A c.(418-420)gTc>gAc p.V140D NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) AATCAGACTGTCTGTGCACTC 0.522000 21 106 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15308354 15308354 + Nonsense_Mutation SNP C C A rs148166997 TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr19:15308354C>A ENST00000263388.2 - 2 229 c.154G>T c.(154-156)Gga>Tga p.G52* NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 52 EGF-like 1. Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CAACGACCTCCATTTGCACAC 0.687000 6 7 0.0215528 0.0222896 1 1 0 RPL12P38 645688 broad.mit.edu 37 17 58512431 58512431 + RNA SNP T T A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr17:58512431T>A ENST00000588627.1 - 0 926 AAAAAAAAAGTAAAATAAAAT 0.323000 5 17 0 0 1 0 0 SLC24A2 25769 broad.mit.edu 37 9 19576921 19576921 + Splice_Site SNP C C T TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr9:19576921C>T ENST00000341998.2 - 5 1290 c.e5+1 SLC24A2_ENST00000286344.3_Splice_Site NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) CCTGCACTCACCCACGTGGTT 0.557000 22 30 0 0 1 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47364534 47364534 + RNA SNP C C A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr1:47364534C>A ENST00000505841.1 - 0 302 NR_002788.2 TCAGGAGAATCTTGACATAGT 0.478000 19 46 5.3912e-06 5.93032e-06 1 1 0 DNAH1 25981 broad.mit.edu 37 3 52417474 52417474 + Missense_Mutation SNP G G A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr3:52417474G>A ENST00000420323.2 + 51 8275 c.8014G>A c.(8014-8016)Gcg>Acg p.A2672T NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2672 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCTGTATACTGCGGACGAGCA 0.557000 13 25 0 0 1 0 0 BDKRB1 623 broad.mit.edu 37 14 96730375 96730375 + Missense_Mutation SNP C C G TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr14:96730375C>G ENST00000216629.6 + 3 962 c.356C>G c.(355-357)gCc>gGc p.A119G RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Missense_Mutation_p.A119G NM_000710.3 NP_000701.2 P46663 BKRB1_HUMAN bradykinin receptor B1 119 elevation of cytosolic calcium ion concentration endoplasmic reticulum|integral to plasma membrane bradykinin receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1) 16 all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226) GTCATCAAGGCCAATTTGTTC 0.592000 28 118 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466706 56466706 + Missense_Mutation SNP G G A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr19:56466706G>A ENST00000291971.3 + 3 1353 c.1282G>A c.(1282-1284)Gtc>Atc p.V428I NLRP8_ENST00000590542.1_Missense_Mutation_p.V428I NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 428 NACHT. cytoplasm ATP binding p.V428I(1) breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CTCTGTGTTCGTCCGGTATAT 0.498000 45 65 0 0 1 0 0 KCTD12 115207 broad.mit.edu 37 13 77459494 77459494 + Missense_Mutation SNP C C T TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr13:77459494C>T ENST00000377474.2 - 1 1031 c.790G>A c.(790-792)Gag>Aag p.E264K KCTD12_ENST00000317765.2_Missense_Mutation_p.E264K NM_138444.3 NP_612453.1 Q96CX2 KCD12_HUMAN potassium channel tetramerization domain containing 12 264 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity kidney(1)|large_intestine(1)|lung(1)|ovary(1) 4 Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.0499) GTGTAGCGCTCCGGGGGACGG 0.637000 OREG0022449 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 20 0 0 1 0 0 LOC100128164 100128164 broad.mit.edu 37 3 169663566 169663566 + RNA SNP C C T TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr3:169663566C>T ENST00000483289.2 - 0 3728 RP11-379K17.4_ENST00000487580.1_RNA NR_027622.1 TACTGTAAAACGGGAGAAAAG 0.413000 10 31 0 0 1 0 0 GJC1 10052 broad.mit.edu 37 17 42882006 42882006 + Missense_Mutation SNP C C T rs146820007 TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr17:42882006C>T ENST00000426548.1 - 3 1449 c.1180G>A c.(1180-1182)Gtc>Atc p.V394I GJC1_ENST00000590758.1_Missense_Mutation_p.V394I|GJC1_ENST00000330514.4_Missense_Mutation_p.V394I|GJC1_ENST00000592524.1_Missense_Mutation_p.V394I NM_001080383.1|NM_005497.3 NP_001073852.1|NP_005488.2 P36383 CXG1_HUMAN gap junction protein, gamma 1, 45kDa 394 cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport connexon complex|integral to membrane NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1) 19 Prostate(33;0.0959) TAAATCCAGACGGAGGTCTTC 0.488000 36 81 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82595332 82595332 + Missense_Mutation SNP C C T TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr7:82595332C>T ENST00000423517.2 - 4 4109 c.3772G>A c.(3772-3774)Gaa>Aaa p.E1258K PCLO_ENST00000333891.8_Missense_Mutation_p.E1258K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1197 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTCTGTTCTTCTGGGGCTGAT 0.413000 71 151 0 0 1 0 0 SLC9B2 133308 broad.mit.edu 37 4 103947745 103947745 + Missense_Mutation SNP C C A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr4:103947745C>A ENST00000394785.3 - 12 2027 c.1396G>T c.(1396-1398)Gca>Tca p.A466S SLC9B2_ENST00000339611.4_Intron|SLC9B2_ENST00000503103.1_Missense_Mutation_p.C363F|SLC9B2_ENST00000362026.3_Missense_Mutation_p.A466S|SLC9B2_ENST00000503230.1_Missense_Mutation_p.A409S NM_178833.4 NP_849155.2 Q86UD5 NHDC2_HUMAN solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2 466 sodium ion transport integral to membrane|mitochondrial membrane solute:hydrogen antiporter activity GATCCTATTGCAGCCTATAAA 0.353000 30 48 3.65163e-15 4.41847e-15 1 1 0 NCOA6 23054 broad.mit.edu 37 20 33337511 33337511 + Silent SNP G G A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr20:33337511G>A ENST00000374796.2 - 10 5057 c.2487C>T c.(2485-2487)gtC>gtT p.V829V NCOA6_ENST00000359003.2_Silent_p.V829V Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 829 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CATGAGGGGGGACCATGTTGG 0.502000 133 116 0 0 1 0 0 SYCN 342898 broad.mit.edu 37 19 39694790 39694790 + Silent SNP C C T TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr19:39694790C>T ENST00000318438.6 - 1 116 c.105G>A c.(103-105)acG>acA p.T35T NM_001080468.2 NP_001073937.1 Q0VAF6 SYCN_HUMAN syncollin 35 exocytosis transport vesicle membrane endometrium(1)|kidney(1) 2 all_cancers(60;7.32e-07)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|all_epithelial(25;8.97e-07)|Ovarian(47;0.0454) Epithelial(26;1.34e-25)|all cancers(26;9.31e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CGCAAGTGCGCGTCCCGTCCG 0.716000 18 27 0 0 1 0 0 LRFN5 145581 broad.mit.edu 37 14 42360793 42360793 + Missense_Mutation SNP G G C TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr14:42360793G>C ENST00000298119.4 + 4 2915 c.1726G>C c.(1726-1728)Gct>Cct p.A576P LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron NM_152447.3 NP_689660.2 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 576 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) AACTAACGGGGCTCAAATACA 0.453000 HNSCC(30;0.082) 19 100 0 0 1 0 0 WFIKKN1 117166 broad.mit.edu 37 16 682656 682656 + Silent SNP C C A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr16:682656C>A ENST00000319070.2 + 2 568 c.246C>A c.(244-246)ggC>ggA p.G82G NM_053284.2 NP_444514.1 Q96NZ8 WFKN1_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 82 extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1) 4 Hepatocellular(780;0.00335) GCTTCCCCGGCAGCCCAGCTG 0.677000 7 17 8.12818e-05 8.86045e-05 1 1 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342186 60342186 + RNA SNP T T C rs79096325 TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr17:60342186T>C ENST00000581291.1 - 0 1967 breast(2)|kidney(1)|lung(2) 5 GCTGGGGGTGTTGGGAGGGGC 0.498000 3 22 0 0 1 0 0 ADNP2 22850 broad.mit.edu 37 18 77895068 77895068 + Missense_Mutation SNP C C A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr18:77895068C>A ENST00000262198.4 + 4 2227 c.1772C>A c.(1771-1773)aCc>aAc p.T591N NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 591 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) CAGAACACCACCTTCCTGACA 0.552000 22 16 5.26018e-13 6.3018e-13 1 1 0 TMTC2 160335 broad.mit.edu 37 12 83289634 83289634 + Nonsense_Mutation SNP T T A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr12:83289634T>A ENST00000549919.1 + 4 2479 c.674T>A c.(673-675)tTa>tAa p.L225* TMTC2_ENST00000321196.3_Nonsense_Mutation_p.L231*|TMTC2_ENST00000548305.1_Nonsense_Mutation_p.L231* Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 231 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 ATTAGTTTGTTAATTTTCTGG 0.433000 48 73 0 0 1 0 0 ESYT1 23344 broad.mit.edu 37 12 56528147 56528147 + Missense_Mutation SNP C C T TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr12:56528147C>T ENST00000394048.5 + 15 1831 c.1567C>T c.(1567-1569)Cca>Tca p.P523S ESYT1_ENST00000267113.4_Missense_Mutation_p.P533S|ESYT1_ENST00000541590.1_Missense_Mutation_p.P533S NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 523 C2 2. integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 TACCAACTGCCCAGTGTGGGA 0.512000 34 78 0 0 1 0 0 ZNF667 63934 broad.mit.edu 37 19 56953521 56953521 + Missense_Mutation SNP A A C TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr19:56953521A>C ENST00000504904.3 - 7 1562 c.843T>G c.(841-843)caT>caG p.H281Q ZNF667_ENST00000342634.3_Missense_Mutation_p.H409Q|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.H281Q Q5HYK9 ZN667_HUMAN zinc finger protein 667 281 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) TATTATATTTATGTGTTTTCT 0.368000 39 95 0 0 1 0 0 PRB1 5542 broad.mit.edu 37 12 11506882 11506882 + Missense_Mutation SNP G G T TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr12:11506882G>T ENST00000500254.2 - 3 192 c.155C>A c.(154-156)cCt>cAt p.P52H PRB1_ENST00000546254.1_Missense_Mutation_p.P52H|PRB1_ENST00000545626.1_Missense_Mutation_p.P52H NM_005039.3|NM_199353.2 NP_005030.2|NP_955385.1 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 235 extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) TCCTGGAGGAGGTGGGGGGCC 0.582000 74 149 5.2429e-30 6.74884e-30 1 1 0 CTH 1491 broad.mit.edu 37 1 70887340 70887340 + Silent SNP A A G TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr1:70887340A>G ENST00000411986.2 + 3 540 c.342A>G c.(340-342)gcA>gcG p.A114A CTH_ENST00000370938.3_Silent_p.A146A|CTH_ENST00000464926.1_3'UTR|CTH_ENST00000346806.2_Silent_p.A146A NM_001190463.1 NP_001177392.1 P32929 CGL_HUMAN cystathionase (cystathionine gamma-lyase) 146 cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine cytoplasm|nucleus cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) TAGAGGCAGCAATTACACCAG 0.353000 12 36 0 0 1 0 0 RRP1 8568 broad.mit.edu 37 21 45217866 45217866 + Silent SNP C C T TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr21:45217866C>T ENST00000497547.1 + 8 813 c.696C>T c.(694-696)ctC>ctT p.L232L RRP1_ENST00000471909.1_3'UTR NM_003683.5 NP_003674.1 P56182 RRP1_HUMAN ribosomal RNA processing 1 232 rRNA processing nucleolus|preribosome, small subunit precursor central_nervous_system(1)|kidney(1)|lung(4)|stomach(2) 8 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) TTGAAGACCTCCTGAATGAAC 0.572000 19 32 0 0 1 0 0 PPFIA4 8497 broad.mit.edu 37 1 203012543 203012543 + Silent SNP C C A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr1:203012543C>A ENST00000367240.2 + 3 780 c.253C>A c.(253-255)Cgg>Agg p.R85R PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000447715.2_Silent_p.R85R O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 0 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 CACCTTAACCCGGGAGCTGAG 0.542000 3 4 0.115264 0.117201 1 1 0 FAM126A 84668 broad.mit.edu 37 7 22985394 22985394 + Silent SNP G G A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr7:22985394G>A ENST00000432176.2 - 11 1612 c.1380C>T c.(1378-1380)gtC>gtT p.V460V FAM126A_ENST00000409923.1_3'UTR NM_032581.3 NP_115970.2 Q9BYI3 HYCCI_HUMAN family with sequence similarity 126, member A 460 cytoplasm|membrane signal transducer activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2) 23 GTGGGACTGTGACACCACTGA 0.468000 32 76 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67102347 67102347 + Nonsense_Mutation SNP C C A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr17:67102347C>A ENST00000284425.2 - 19 2569 c.2395G>T c.(2395-2397)Gaa>Taa p.E799* NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 799 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) TCCACTTGTTCGAAATCTATA 0.378000 10 30 7.48243e-07 8.38309e-07 1 1 0 PAMR1 25891 broad.mit.edu 37 11 35454063 35454063 + Silent SNP G G A TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr11:35454063G>A ENST00000378880.2 - 11 2449 c.2004C>T c.(2002-2004)atC>atT p.I668I PAMR1_ENST00000378878.3_Silent_p.I557I|PAMR1_ENST00000532848.1_Silent_p.I628I|PAMR1_ENST00000278360.3_Silent_p.I685I NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 668 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 ACACAGCCGCGATGCCTCCTG 0.567000 32 94 0 0 1 0 0 GPAM 57678 broad.mit.edu 37 10 113935464 113935464 + Missense_Mutation SNP C C T TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr10:113935464C>T ENST00000348367.4 - 6 504 c.307G>A c.(307-309)Gga>Aga p.G103R GPAM_ENST00000369425.1_Missense_Mutation_p.G103R|GPAM_ENST00000423155.1_Missense_Mutation_p.G103R Q9HCL2 GPAT1_HUMAN glycerol-3-phosphate acyltransferase, mitochondrial 103 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity p.G103*(1) breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(162;0.0306)|all cancers(201;0.123) GCAAGCCATCCGCGGTGTCTG 0.408000 14 49 0 0 1 0 0 LINC01250 101927554 broad.mit.edu 37 2 2910724 2910724 + RNA DEL C C - TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr2:2910724delC ENST00000457478.1 - 0 594 caccccctctccccagcccac 0.706 2 4 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187628153 187628154 + Frame_Shift_Ins INS - - C TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr4:187628153_187628154insC ENST00000441802.2 - 2 3037_3038 c.2828_2829insG c.(2827-2829)gacfs p.D943fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 943 Cadherin 8. 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 TGATGACGGTTCCTTCTGGAAG 0.455 HNSCC(5;0.00058) 93 147 --- --- --- --- ZBTB22 9278 broad.mit.edu 37 6 33283037 33283037 + Frame_Shift_Del DEL G G - TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr6:33283037delG ENST00000431845.2 - 2 1808 c.1657delC c.(1657-1659)gafs p.R553fs ZBTB22_ENST00000418724.1_Frame_Shift_Del_p.R553fs NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 553 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 AAGCTGTCTCGCCACATGAAC 0.617 56 90 --- --- --- --- PMS2P3 5387 broad.mit.edu 37 7 75145720 75145721 + RNA DEL AT AT - TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr7:75145720_75145721delAT ENST00000418756.1 - 0 618 NR_028059.1 lung(1) 1 TCCTTTGGGGatatatatatat 0.302 3 6 --- --- --- --- CCDC26 137196 broad.mit.edu 37 8 130486240 130486241 + RNA INS - - GCTTAACATG rs146923907 by1000genomes TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr8:130486240_130486241insGCTTAACATG ENST00000446592.3 - 0 360 ggctcagctcagcttaacatgg 0.545 5 1 --- --- --- --- CEACAM20 125931 broad.mit.edu 37 19 45017502 45017503 + RNA DEL GC GC - rs10669399 TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr19:45017502_45017503delGC ENST00000454753.1 - 0 1588 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) ttttggttttgctttttttttt 0.460 2 4 --- --- --- --- AIFM3 150209 broad.mit.edu 37 22 21328069 21328070 + Frame_Shift_Ins INS - - G TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chr22:21328069_21328070insG ENST00000399167.2 + 4 508_509 c.268_269insG c.(268-270)gggfs p.G90fs AIFM3_ENST00000440238.2_Frame_Shift_Ins_p.G90fs|AIFM3_ENST00000399163.2_Frame_Shift_Ins_p.G90fs|AIFM3_ENST00000333607.6_Frame_Shift_Ins_p.G90fs|AIFM3_ENST00000335375.5_Intron|AIFM3_ENST00000405089.1_Frame_Shift_Ins_p.G96fs NM_144704.2 NP_653305.1 apoptosis-inducing factor, mitochondrion-associated, 3 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 21 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) GGAGCTGGGCTGGGGGAAGGTG 0.629 2 4 --- --- --- --- DGAT2L6 347516 broad.mit.edu 37 X 69420157 69420158 + Frame_Shift_Ins INS - - C TCGA-CQ-A4CG-01A-11D-A25Y-08 TCGA-CQ-A4CG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 009cbff6-7773-4ad9-a8a3-4770af607598 08cf1852-84bf-4af9-b7ea-12d38a3749fb g.chrX:69420157_69420158insC ENST00000333026.3 + 4 420_421 c.320_321insC c.(319-321)cccfs p.P107fs NM_198512.1 NP_940914.1 Q6ZPD8 DG2L6_HUMAN diacylglycerol O-acyltransferase 2-like 6 107 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1) 12 ATTGCCAATCACCCCCATGGCA 0.465 22 67 --- --- --- ---