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 MTNR1A 4543 broad.mit.edu 37 4 187454891 187454891 + Silent SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr4:187454891C>T ENST00000307161.5 - 2 1206 c.1005G>A c.(1003-1005)ccG>ccA p.P335P RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 335 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) TCAGTGGAGACGGTTTCCATT 0.493000 24 68 0 0 0.003330 0 0 DMD 1756 broad.mit.edu 37 X 32591889 32591889 + Silent SNP G G C TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chrX:32591889G>C ENST00000357033.4 - 14 1883 c.1677C>G c.(1675-1677)ctC>ctG p.L559L DMD_ENST00000378677.2_Silent_p.L555L|DMD_ENST00000288447.4_Silent_p.L551L 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 559 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) GTTGCCATTTGAGAAGGATGT 0.423000 7 6 0 0 0.003080 0 0 SBF2 81846 broad.mit.edu 37 11 10022466 10022466 + Missense_Mutation SNP C C G TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr11:10022466C>G ENST00000256190.8 - 8 993 c.856G>C c.(856-858)Gaa>Caa p.E286Q SBF2_ENST00000527019.1_5'UTR NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 286 DENN. myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) CTTACAAGTTCATGGACATCA 0.363000 3 6 0 0 0.004672 0 0 CCDC66 285331 broad.mit.edu 37 3 56651600 56651600 + Silent SNP G G A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr3:56651600G>A ENST00000394672.3 + 14 2374 c.2304G>A c.(2302-2304)acG>acA p.T768T CCDC66_ENST00000326595.7_Silent_p.T734T|CCDC66_ENST00000436465.2_Silent_p.T768T NM_001012506.4|NM_001141947.1 NP_001012524.4|NP_001135419.1 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 768 breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) ATCAAGAAACGGAGTCAAAGT 0.378000 10 15 0 0 0.008291 0 0 SI 6476 broad.mit.edu 37 3 164777066 164777066 + Missense_Mutation SNP C C G TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr3:164777066C>G ENST00000264382.3 - 11 1230 c.1168G>C c.(1168-1170)Gac>Cac p.D390H NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 390 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) TCCATGTAGTCAATATCAGTG 0.358000 HNSCC(35;0.089) 7 52 0 0 0.003080 0 0 ERMARD 55780 broad.mit.edu 37 6 170156467 170156467 + Silent SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr6:170156467C>T ENST00000366773.3 + 4 382 c.349C>T c.(349-351)Cta>Tta p.L117L C6orf70_ENST00000418781.3_Silent_p.L117L|C6orf70_ENST00000392095.4_5'UTR|C6orf70_ENST00000588451.1_5'UTR|C6orf70_ENST00000366772.2_Silent_p.L117L NM_001278532.1|NM_018341.1 NP_001265461.1|NP_060811.1 Q5T6L9 CF070_HUMAN 117 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1) 20 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) CTTGGAAAGTCTACAATCTCC 0.348000 9 48 0 0 0.006214 0 0 TP53 7157 broad.mit.edu 37 17 7577022 7577022 + Nonsense_Mutation SNP G G A rs121913344 TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr17:7577022G>A ENST00000420246.2 - 8 1048 c.916C>T c.(916-918)Cga>Tga p.R306* TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 306 Interaction with CARM1.|Interaction with HIPK1 (By similarity). R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGCTTACCTCGCTTAGTGCTC 0.562000 R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 53 31 0 0 0.014410 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51914354 51914354 + Silent SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr19:51914354C>T ENST00000353836.5 - 10 2029 c.1808G>A c.(1807-1809)tGa>tAa p.*603* SIGLEC10_ENST00000525998.1_Silent_p.*513*|SIGLEC10_ENST00000432469.2_Silent_p.*520*|SIGLEC10_ENST00000439889.2_Silent_p.*640*|SIGLEC10_ENST00000436984.2_Silent_p.*555*|SIGLEC10_ENST00000441969.3_Silent_p.*545*|SIGLEC10_ENST00000356298.5_Silent_p.*698*|SIGLEC10_ENST00000442846.3_Silent_p.*455*|SIGLEC10_ENST00000339313.5_Silent_p.*698* NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 0 cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) AAGAGACCCTCATTGGAACTT 0.542000 61 38 0 0 0.014410 0 0 RHOA 387 broad.mit.edu 37 3 49412905 49412905 + Missense_Mutation SNP C C G TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr3:49412905C>G ENST00000418115.1 - 2 502 c.118G>C c.(118-120)Gag>Cag p.E40Q RHOA_ENST00000454011.2_Missense_Mutation_p.E40Q|RHOA_ENST00000422781.1_Missense_Mutation_p.E40Q NM_001664.2 NP_001655.1 P61586 RHOA_HUMAN ras homolog family member A 40 axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding p.E40Q(1) cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) ACATAGTTCTCAAACACTGTG 0.438000 87 46 0 0 0.014410 0 0 USP26 83844 broad.mit.edu 37 X 132161099 132161099 + Missense_Mutation SNP G G C TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chrX:132161099G>C ENST00000511190.1 - 6 1619 c.1150C>G c.(1150-1152)Cat>Gat p.H384D USP26_ENST00000406273.1_Missense_Mutation_p.H384D|USP26_ENST00000370832.1_Missense_Mutation_p.H384D NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 384 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity p.H384Y(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) AAAAACTCATGAGCATCGTTC 0.358000 24 14 0 0 0.003954 0 0 CIT 11113 broad.mit.edu 37 12 120172072 120172072 + Missense_Mutation SNP G G A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr12:120172072G>A ENST00000392521.2 - 26 3302 c.3247C>T c.(3247-3249)Cgg>Tgg p.R1083W CIT_ENST00000261833.7_Missense_Mutation_p.R1041W|CIT_ENST00000537607.1_5'UTR NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 1041 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TCCCACTGCCGCTCTTTTTCT 0.547000 34 42 0 0 0.003755 0 0 KIAA1211 57482 broad.mit.edu 37 4 57182124 57182124 + Missense_Mutation SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr4:57182124C>T ENST00000504228.1 + 6 2561 c.2456C>T c.(2455-2457)tCg>tTg p.S819L KIAA1211_ENST00000264229.6_Missense_Mutation_p.S819L|KIAA1211_ENST00000541073.1_Missense_Mutation_p.S812L Q6ZU35 K1211_HUMAN KIAA1211 819 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) TTCACGACCTCGTCGGACAGC 0.537000 25 54 0 0 0.003954 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125282021 125282021 + Missense_Mutation SNP A A G TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr2:125282021A>G ENST00000431078.1 + 9 1830 c.1466A>G c.(1465-1467)tAt>tGt p.Y489C NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 489 Laminin G-like 2. 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) AATAGCTACTATTTTGGAGGT 0.448000 16 19 0 0 0.004007 0 0 PDE8B 8622 broad.mit.edu 37 5 76704787 76704787 + Missense_Mutation SNP C C G TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr5:76704787C>G ENST00000264917.5 + 14 1480 c.1435C>G c.(1435-1437)Cta>Gta p.L479V PDE8B_ENST00000333194.4_Intron|PDE8B_ENST00000346042.3_Missense_Mutation_p.L382V|PDE8B_ENST00000342343.4_Missense_Mutation_p.L459V|PDE8B_ENST00000340978.3_Missense_Mutation_p.L432V NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 479 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) GGACAGAGTTCTAGAGATTTT 0.463000 12 38 0 0 0.013537 0 0 CNGB3 54714 broad.mit.edu 37 8 87638274 87638274 + Silent SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr8:87638274C>T ENST00000320005.5 - 13 1562 c.1515G>A c.(1513-1515)acG>acA p.T505T NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 505 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 CTAACTGGACCGTAGTTGGTA 0.383000 20 42 0 0 0.010504 0 0 SSPO 23145 broad.mit.edu 37 7 149486777 149486777 + RNA SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr7:149486777C>T ENST00000378016.2 + 0 4551 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) TCTGGGACTGCCCAGATGGAG 0.667000 9 16 0 0 0.006214 0 0 TCERG1 10915 broad.mit.edu 37 5 145851118 145851118 + Missense_Mutation SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr5:145851118C>T ENST00000296702.5 + 9 1618 c.1580C>T c.(1579-1581)gCt>gTt p.A527V TCERG1_ENST00000394421.2_Missense_Mutation_p.A506V NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 527 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTTGCTACTGCTCCTATTCCT 0.423000 16 38 0 0 0.006122 0 0 SLC2A12 154091 broad.mit.edu 37 6 134350301 134350301 + Missense_Mutation SNP G G C TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr6:134350301G>C ENST00000275230.5 - 2 817 c.662C>G c.(661-663)cCt>cGt p.P221R NM_145176.2 NP_660159.1 Q8TD20 GTR12_HUMAN solute carrier family 2 (facilitated glucose transporter), member 12 221 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.214)|Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123) CAGAAACCGAGGGCTTGGAGG 0.448000 30 60 0 0 0.009535 0 0 MYRF 745 broad.mit.edu 37 11 61533490 61533490 + Silent SNP G G A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr11:61533490G>A ENST00000278836.5 + 3 291 c.195G>A c.(193-195)gcG>gcA p.A65A MYRF_ENST00000265460.5_Silent_p.A56A NM_001127392.1 NP_001120864.1 myelin regulatory factor GGCAGCCTGCGATGCCTGGCT 0.746000 5 13 0 0 0.000602 0 0 PLCB4 5332 broad.mit.edu 37 20 9360788 9360788 + Missense_Mutation SNP G G C TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr20:9360788G>C ENST00000378501.2 + 10 847 c.832G>C c.(832-834)Gat>Cat p.D278H PLCB4_ENST00000378473.3_Missense_Mutation_p.D278H|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.D278H|PLCB4_ENST00000378493.1_Missense_Mutation_p.D278H|PLCB4_ENST00000334005.3_Missense_Mutation_p.D278H|PLCB4_ENST00000414679.2_Missense_Mutation_p.D278H NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 278 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 GTATGAACCTGATGAAGATTT 0.294000 8 24 0 0 0.006214 0 0 LRRC8B 23507 broad.mit.edu 37 1 90049999 90049999 + Missense_Mutation SNP T T C TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr1:90049999T>C ENST00000330947.2 + 5 2150 c.1790T>C c.(1789-1791)cTg>cCg p.L597P LRRC8B_ENST00000439853.1_Missense_Mutation_p.L597P|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.L597P NM_001134476.1 NP_001127948.1 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member B 597 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 26 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) AGCTGTGACCTGGAACGCATC 0.403000 3 52 0 0 0.004672 0 0 DDI2 84301 broad.mit.edu 37 1 15956839 15956839 + Silent SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr1:15956839C>T ENST00000480945.1 + 3 459 c.288C>T c.(286-288)ttC>ttT p.F96F NM_032341.4 NP_115717.3 Q5TDH0 DDI2_HUMAN DNA-damage inducible 1 homolog 2 (S. cerevisiae) 96 proteolysis aspartic-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1) 17 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) GAATAGATTTCAGTAGTATAG 0.463000 30 56 0 0 0.009535 0 0 CNTN3 5067 broad.mit.edu 37 3 74315641 74315641 + Nonsense_Mutation SNP G G A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr3:74315641G>A ENST00000263665.6 - 21 3004 c.2977C>T c.(2977-2979)Cga>Tga p.R993* CNTN3_ENST00000477856.1_5'UTR NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 993 cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) CTGGTTATTCGTGGAATCCTG 0.428000 89 67 0 0 0.014410 0 0 MB21D2 151963 broad.mit.edu 37 3 192516654 192516654 + Silent SNP G G T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr3:192516654G>T ENST00000392452.2 - 2 1317 c.997C>A c.(997-999)Cgg>Agg p.R333R NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 333 endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 ATCATGCTCCGCAGGTGATAG 0.552000 28 82 9.04412e-07 1.04573e-06 0.004656 1 0 CPVL 54504 broad.mit.edu 37 7 29105714 29105714 + Silent SNP G G A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr7:29105714G>A ENST00000409850.1 - 14 1534 c.888C>T c.(886-888)ggC>ggT p.G296G CPVL_ENST00000265394.5_Silent_p.G296G|CPVL_ENST00000396276.3_Silent_p.G296G Q9H3G5 CPVL_HUMAN carboxypeptidase, vitellogenic-like 296 proteolysis protein binding|serine-type carboxypeptidase activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1) 28 TTGTTAAGTCGCCATCTAGTA 0.348000 11 42 0 0 0.010729 0 0 CLEC2D 29121 broad.mit.edu 37 12 9840539 9840539 + Nonsense_Mutation SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr12:9840539C>T ENST00000261340.7 + 3 236 c.214C>T c.(214-216)Caa>Taa p.Q72* CLEC2D_ENST00000290855.6_Nonsense_Mutation_p.Q72*|CLEC2D_ENST00000261339.6_Nonsense_Mutation_p.Q35*|CLEC2D_ENST00000543300.1_Nonsense_Mutation_p.Q72*|CLEC2D_ENST00000545918.1_Nonsense_Mutation_p.Q35* NM_001004419.4 NP_001004419.1 Q9UHP7 CLC2D_HUMAN C-type lectin domain family 2, member D 72 cell surface receptor linked signaling pathway cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction sugar binding|transmembrane receptor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1) 9 AGTATGTCTTCAAGCTGCATG 0.323000 11 38 0 0 0.010729 0 0 IRGC 56269 broad.mit.edu 37 19 44223073 44223073 + Silent SNP G G A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr19:44223073G>A ENST00000244314.5 + 2 562 c.363G>A c.(361-363)ccG>ccA p.P121P NM_019612.3 NP_062558.1 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 121 membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) CAGGCTGCCCGGCTGACAAGT 0.657000 7 32 0 0 0.001984 0 0 MID2 11043 broad.mit.edu 37 X 107159287 107159287 + Missense_Mutation SNP G G C TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chrX:107159287G>C ENST00000262843.6 + 6 1677 c.1129G>C c.(1129-1131)Gat>Cat p.D377H MID2_ENST00000443968.2_Missense_Mutation_p.D377H|RP6-191P20.4_ENST00000430140.1_RNA NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 377 COS. centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 CAATTTTAATGATGCCTTTGA 0.353000 33 14 0 0 0.012213 0 0 ANO4 121601 broad.mit.edu 37 12 101491682 101491682 + Silent SNP G G T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr12:101491682G>T ENST00000392979.3 + 20 2221 c.1860G>T c.(1858-1860)gtG>gtT p.V620V ANO4_ENST00000392977.3_Silent_p.V655V|ANO4_ENST00000550015.1_Silent_p.V175V|ANO4_ENST00000299222.9_Silent_p.V175V NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 655 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 TTATAATGgtgctaaagcaga 0.413000 HNSCC(74;0.22) 25 60 3.1745e-13 3.7586e-13 0.008361 1 0 SORCS3 22986 broad.mit.edu 37 10 106982909 106982909 + Missense_Mutation SNP G G A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr10:106982909G>A ENST00000369701.3 + 20 2997 c.2770G>A c.(2770-2772)Gtt>Att p.V924I SORCS3_ENST00000369699.4_3'UTR NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 924 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) AGTTCCATTTGTTGCCATAAG 0.453000 25 73 0 0 0.002780 0 0 MAPKAPK3 7867 broad.mit.edu 37 3 50683618 50683618 + Missense_Mutation SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr3:50683618C>T ENST00000446044.1 + 10 1348 c.752C>T c.(751-753)tCc>tTc p.S251F MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.S251F NM_001243926.1 NP_001230855.1 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated protein kinase 3 251 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity central_nervous_system(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) CAGGCCATCTCCCCGGGGATG 0.597000 94 58 0 0 0.014410 0 0 AFM 173 broad.mit.edu 37 4 74351714 74351714 + Silent SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr4:74351714C>T ENST00000226355.3 + 4 499 c.406C>T c.(406-408)Ctg>Ttg p.L136L NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin 136 Albumin 1. vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGTGGGATTTCTGCCTCCTTT 0.398000 16 39 0 0 0.006122 0 0 KIF5C 3800 broad.mit.edu 37 2 149868101 149868101 + Missense_Mutation SNP G G A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr2:149868101G>A ENST00000435030.1 + 25 3153 c.2785G>A c.(2785-2787)Gga>Aga p.G929R KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.G834R|KIF5C_ENST00000397413.1_Missense_Mutation_p.G697R O60282 KIF5C_HUMAN kinesin family member 5C 929 Globular. microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) CATCCGCCCCGGACACTACCC 0.498000 4 82 0 0 0.000602 0 0 TRPM6 140803 broad.mit.edu 37 9 77386695 77386695 + Missense_Mutation SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr9:77386695C>T ENST00000451710.3 - 25 3697 c.3460G>A c.(3460-3462)Gtg>Atg p.V1154M TRPM6_ENST00000376864.4_Missense_Mutation_p.V1154M|TRPM6_ENST00000449912.2_Missense_Mutation_p.V1149M|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.V1149M|TRPM6_ENST00000360774.1_Missense_Mutation_p.V1154M|TRPM6_ENST00000376871.3_Intron Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1154 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TATTTTTCCACGCACTGCTCC 0.353000 8 45 0 0 0.004482 0 0 ABTB2 25841 broad.mit.edu 37 11 34194744 34194744 + Missense_Mutation SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr11:34194744C>T ENST00000435224.2 - 4 1779 c.1355G>A c.(1354-1356)cGg>cAg p.R452Q ABTB2_ENST00000298992.2_Missense_Mutation_p.R266Q|ABTB2_ENST00000530814.1_5'UTR NM_145804.2 NP_665803.2 A8K6S9 A8K6S9_HUMAN ankyrin repeat and BTB (POZ) domain containing 2 266 DNA binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) CAGCAGCAGCCGGGCTGCCTG 0.692000 13 36 0 0 0.002450 0 0 KCNH1 3756 broad.mit.edu 37 1 210971026 210971026 + Missense_Mutation SNP G G A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr1:210971026G>A ENST00000367007.4 - 9 1827 c.1658C>T c.(1657-1659)cCg>cTg p.P553L KCNH1_ENST00000271751.4_Missense_Mutation_p.P580L NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 580 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CCGGAAGGCCGGGTGCTCCTT 0.607000 22 47 0 0 0.010504 0 0 TRIP13 9319 broad.mit.edu 37 5 908535 908535 + Silent SNP C C T rs146441673 TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr5:908535C>T ENST00000166345.3 + 9 1181 c.825C>T c.(823-825)cgC>cgT p.R275R NM_004237.3 NP_004228.1 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 275 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 18 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) ATGCCATCCGCGTGGTCAATG 0.522000 22 65 0 0 0.012319 0 0 HIST1H2AL 8332 broad.mit.edu 37 6 27833460 27833460 + Missense_Mutation SNP C C A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr6:27833460C>A ENST00000357320.2 + 1 427 c.328C>A c.(328-330)Ccc>Acc p.P110T NM_003511.2 NP_003502.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2al 110 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2) 9 TGGTGTCCTGCCCAACATCCA 0.552000 64 98 1.53122e-18 1.84244e-18 0.014410 1 0 EXPH5 23086 broad.mit.edu 37 11 108385369 108385369 + Missense_Mutation SNP G G C TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr11:108385369G>C ENST00000265843.4 - 6 975 c.865C>G c.(865-867)Cct>Gct p.P289A EXPH5_ENST00000428840.1_Missense_Mutation_p.P213A|EXPH5_ENST00000443411.1_Missense_Mutation_p.P101A|EXPH5_ENST00000525344.1_Missense_Mutation_p.P282A|EXPH5_ENST00000524840.1_5'UTR NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 289 intracellular protein transport Rab GTPase binding p.P289S(2) breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CTTGTCCTAGGAGAAAAGGTT 0.378000 12 30 0 0 0.010729 0 0 ELMO3 79767 broad.mit.edu 37 16 67235652 67235652 + Missense_Mutation SNP G G A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr16:67235652G>A ENST00000393997.2 + 11 1142 c.1085G>A c.(1084-1086)cGg>cAg p.R362Q ELMO3_ENST00000360833.1_Missense_Mutation_p.R345Q|ELMO3_ENST00000477898.1_Missense_Mutation_p.R196Q NM_024712.3 NP_078988.2 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 309 ELMO. apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) CAGGAGCAGCGGGAGCAGCTG 0.637000 17 37 0 0 0.004007 0 0 NBPF9 400818 broad.mit.edu 37 1 144814712 144814712 + Missense_Mutation SNP G G A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr1:144814712G>A ENST00000440491.2 + 3 350 c.350G>A c.(349-351)cGa>cAa p.R117Q NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.R117Q NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 GCTCAGGAACGAGAGCTGACC 0.507000 87 129 0 0 0.014410 0 0 PHF3 23469 broad.mit.edu 37 6 64422967 64422967 + Missense_Mutation SNP T T C TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr6:64422967T>C ENST00000262043.3 + 16 5823 c.5483T>C c.(5482-5484)aTg>aCg p.M1828T PHF3_ENST00000393387.1_Missense_Mutation_p.M1828T Q92576 PHF3_HUMAN PHD finger protein 3 1828 Pro-rich. multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) CCACAAAGCATGTTTGGATTT 0.512000 91 128 0 0 0.014410 0 0 OR1A2 26189 broad.mit.edu 37 17 3101020 3101020 + Missense_Mutation SNP G G A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr17:3101020G>A ENST00000381951.1 + 1 208 c.208G>A c.(208-210)Gac>Aac p.D70N NM_012352.1 NP_036484.1 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, member 2 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2) 18 CTCCTTGGTTGACATCATCTT 0.483000 85 112 0 0 0.014410 0 0 GLIS1 148979 broad.mit.edu 37 1 53972293 53972293 + Silent SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr1:53972293C>T ENST00000312233.2 - 10 2428 c.1862G>A c.(1861-1863)tGa>tAa p.*621* NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 0 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 GGGGCTCCTTCAGGTGTCTGT 0.642000 20 40 0 0 0.007413 0 0 NEU2 4759 broad.mit.edu 37 2 233899356 233899356 + Silent SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr2:233899356C>T ENST00000233840.3 + 2 732 c.732C>T c.(730-732)gtC>gtT p.V244V NM_005383.2 NP_005374.2 Q9Y3R4 NEUR2_HUMAN sialidase 2 (cytosolic sialidase) 244 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) GAGCCAGGGTCCAGGCCCAGA 0.652000 18 52 0 0 0.008871 0 0 IWS1 55677 broad.mit.edu 37 2 128255753 128255753 + Missense_Mutation SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr2:128255753C>T ENST00000295321.4 - 6 1787 c.1528G>A c.(1528-1530)Gat>Aat p.D510N IWS1_ENST00000455721.2_Intron|AC010976.2_ENST00000599001.1_RNA NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) 510 transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) GAATCTGAATCTTCTGCTTCT 0.303000 34 44 0 0 0.003271 0 0 ENPEP 2028 broad.mit.edu 37 4 111397714 111397714 + Silent SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr4:111397714C>T ENST00000265162.5 + 1 486 c.144C>T c.(142-144)gaC>gaT p.D48D NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 48 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) CCAGCGGGGACGGCGGGCCGG 0.637000 15 110 0 0 0.002450 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr3:178952085A>G ENST00000263967.3 + 21 3297 c.3140A>G c.(3139-3141)cAt>cGt p.H1047R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). 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.H1047R(1387)|p.H1047L(194)|p.H1047P(1) 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) AATGATGCACATCATGGTGGC 0.378000 H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 49 24 0 0 0.014410 0 0 ZFHX4 79776 broad.mit.edu 37 8 77618583 77618583 + Missense_Mutation SNP G G A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr8:77618583G>A ENST00000521891.2 + 2 2708 c.2260G>A c.(2260-2262)Gga>Aga p.G754R ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G754R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G754R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G754R NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 754 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAGTGGCTGCGGAACACCCTC 0.527000 HNSCC(33;0.089) 25 19 0 0 0.003330 0 0 KMT2C 58508 broad.mit.edu 37 7 151891214 151891214 + Splice_Site SNP C C G TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr7:151891214C>G ENST00000355193.2 - 31 4759 c.e31-1 KMT2C_ENST00000262189.6_Splice_Site lysine (K)-specific methyltransferase 2C CCGCCAAGCTCTAGGAGATAA 0.418000 10 27 0 0 0.006214 0 0 ASTN1 460 broad.mit.edu 37 1 176833525 176833525 + Silent SNP G G A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr1:176833525G>A ENST00000367654.2 - 23 3817 c.3804C>T c.(3802-3804)ccC>ccT p.P1268P ASTN1_ENST00000367657.3_Intron|ASTN1_ENST00000361833.2_Silent_p.P1260P O14525 ASTN1_HUMAN astrotactin 1 1268 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CAAGTCCGTAGGGTTTGATCT 0.572000 31 83 0 0 0.010818 0 0 FARSB 10056 broad.mit.edu 37 2 223520788 223520788 + Missense_Mutation SNP G G A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr2:223520788G>A ENST00000281828.6 - 1 268 c.5C>T c.(4-6)cCg>cTg p.P2L NM_005687.3 NP_005678.3 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit 2 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) GCTGACAGTCGGCATGGTGTG 0.627000 10 6 0 0 0.010729 0 0 LCT 3938 broad.mit.edu 37 2 136575285 136575285 + Missense_Mutation SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr2:136575285C>T ENST00000264162.2 - 6 1343 c.1333G>A c.(1333-1335)Ggc>Agc p.G445S NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 445 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity p.G445S(1) breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GCCCGGAGGCCGCAAAGCAGG 0.642000 33 81 0 0 0.009535 0 0 PACS2 23241 broad.mit.edu 37 14 105849787 105849787 + Missense_Mutation SNP G G A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr14:105849787G>A ENST00000447393.1 + 16 1892 c.1717G>A c.(1717-1719)Gag>Aag p.E573K PACS2_ENST00000547217.1_Missense_Mutation_p.E539K|PACS2_ENST00000458164.2_Missense_Mutation_p.E573K|PACS2_ENST00000325438.8_Missense_Mutation_p.E569K|PACS2_ENST00000430725.2_Missense_Mutation_p.E494K|PACS2_ENST00000551743.1_Missense_Mutation_p.E83K NM_015197.3 NP_056012.2 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 569 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) GCTCTTTGTGGAGCAGCTGTC 0.642000 47 16 0 0 0.014410 0 0 TUBBP5 643224 broad.mit.edu 37 9 141070687 141070687 + RNA SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr9:141070687C>T ENST00000503395.1 + 0 1462 ACAACTGGGCCAAGGGACGCT 0.577000 3 13 0 0 0.009096 0 0 KIAA0195 9772 broad.mit.edu 37 17 73487507 73487507 + Missense_Mutation SNP C C A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr17:73487507C>A ENST00000314256.7 + 13 1751 c.1357C>A c.(1357-1359)Cta>Ata p.L453I KIAA0195_ENST00000375248.5_Missense_Mutation_p.L463I|KIAA0195_ENST00000579208.1_Missense_Mutation_p.L104I NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 453 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CACCGATGGCCTATCCACCCG 0.637000 37 69 7.63091e-17 9.10786e-17 0.007835 1 0 VPS25 84313 broad.mit.edu 37 17 40925516 40925516 + Missense_Mutation SNP C C T rs141909224 TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr17:40925516C>T ENST00000253794.2 + 1 63 c.23C>T c.(22-24)cCg>cTg p.P8L NM_032353.2 NP_115729.1 Q9BRG1 VPS25_HUMAN vacuolar protein sorting 25 homolog (S. cerevisiae) 8 cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endosome membrane|nucleoplasm breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1) 5 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) TTCGAGTGGCCGTGGCAGTAT 0.632000 26 123 0 0 0.004656 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140718650 140718650 + Missense_Mutation SNP G G C TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr5:140718650G>C ENST00000394576.2 + 1 112 c.112G>C c.(112-114)Gag>Cag p.E38Q PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGCGGGAAGAGATCGACAG 0.597000 OREG0016854 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 57 0 0 0.006320 0 0 SALL1 6299 broad.mit.edu 37 16 51174768 51174768 + Silent SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr16:51174768C>T ENST00000440970.1 - 2 1505 c.1074G>A c.(1072-1074)gcG>gcA p.A358A SALL1_ENST00000251020.4_Silent_p.A455A|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 455 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CAAAGACCTTCGCGCAGAACC 0.512000 47 59 0 0 0.014410 0 0 TAF4 6874 broad.mit.edu 37 20 60584189 60584189 + Silent SNP A A T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr20:60584189A>T ENST00000252996.3 - 5 1802 c.1803T>A c.(1801-1803)tcT>tcA p.S601S NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa 601 TAFH. interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) TTATTAACGTAGATAGGAAAT 0.353000 19 49 0 0 0.006122 0 0 AKT2 208 broad.mit.edu 37 19 40741920 40741920 + Missense_Mutation SNP T T C TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr19:40741920T>C ENST00000392038.2 - 11 1350 c.1052A>G c.(1051-1053)tAc>tGc p.Y351C AKT2_ENST00000311278.6_Missense_Mutation_p.Y308C|AKT2_ENST00000579047.1_Missense_Mutation_p.Y289C|AKT2_ENST00000424901.1_Missense_Mutation_p.Y351C NM_001243027.1|NM_001243028.1|NM_001626.4 NP_001229956.1|NP_001229957.1|NP_001617.1 P31751 AKT2_HUMAN v-akt murine thymoma viral oncogene homolog 2 351 Protein kinase. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1) 27 Lung(22;0.000499) GTCCTGGTTGTAGAAGGGCAG 0.637000 A """ovarian, pancreatic """ 12 63 0 0 0.010729 0 0 MAST2 23139 broad.mit.edu 37 1 46383114 46383114 + Missense_Mutation SNP G G A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr1:46383114G>A ENST00000372008.1 + 2 231 c.64G>A c.(64-66)Gct>Act p.A22T MAST2_ENST00000372009.2_Intron|MAST2_ENST00000361297.2_Intron Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 0 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) TGCTGATTGTGCTTTGGCTAC 0.532000 45 48 0 0 0.010771 0 0 TSC22D4 81628 broad.mit.edu 37 7 100075277 100075277 + Missense_Mutation SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr7:100075277C>T ENST00000300181.2 - 2 1139 c.385G>A c.(385-387)Gag>Aag p.E129K TSC22D4_ENST00000393991.1_Intron NM_030935.3 NP_112197.1 Q9Y3Q8 T22D4_HUMAN TSC22 domain family, member 4 129 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTGGCCAGCTCCAACCTGGAA 0.692000 7 6 0 0 0.001984 0 0 SKIDA1 387640 broad.mit.edu 37 10 21804522 21804522 + Missense_Mutation SNP C C G TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr10:21804522C>G ENST00000449193.2 - 4 4482 c.2230G>C c.(2230-2232)Gaa>Caa p.E744Q SKIDA1_ENST00000444772.3_Missense_Mutation_p.E665Q NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 GAAGGAGTTTCTTTTTCAGGG 0.453000 80 152 0 0 0.014410 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 4 53 0 0 0.000602 0 0 SAFB 6294 broad.mit.edu 37 19 5641946 5641946 + Nonsense_Mutation SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr19:5641946C>T ENST00000292123.5 + 4 642 c.535C>T c.(535-537)Cag>Tag p.Q179* SAFB_ENST00000538656.1_Intron|SAFB_ENST00000454510.1_Intron|SAFB_ENST00000433404.1_Nonsense_Mutation_p.Q9*|SAFB_ENST00000592224.1_Nonsense_Mutation_p.Q179*|SAFB_ENST00000588852.1_Nonsense_Mutation_p.Q179*|SAFB_ENST00000586934.1_3'UTR NM_001201338.1|NM_001201339.1|NM_002967.3 NP_001188267.1|NP_001188268.1|NP_002958.2 Q15424 SAFB1_HUMAN scaffold attachment factor B 179 chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1) 23 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) GGAGCAGCTTCAGGAACATGC 0.458000 27 27 0 0 0.003954 0 0 SUSD5 26032 broad.mit.edu 37 3 33195134 33195134 + Silent SNP G G A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr3:33195134G>A ENST00000309558.3 - 5 1407 c.990C>T c.(988-990)gtC>gtT p.V330V NM_015551.1 NP_056366.1 O60279 SUSD5_HUMAN sushi domain containing 5 330 cell adhesion integral to membrane hyaluronic acid binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 GTTCACCTGGGACCAATTTTA 0.517000 17 12 0 0 0.006122 0 0 BCAN 63827 broad.mit.edu 37 1 156628471 156628471 + Silent SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr1:156628471C>T ENST00000329117.4 + 13 2910 c.2574C>T c.(2572-2574)tgC>tgT p.C858C BCAN_ENST00000496038.1_3'UTR|RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 858 Sushi. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGATCCGATGCCAAGAGAACG 0.632000 32 82 0 0 0.010818 0 0 KIF16B 55614 broad.mit.edu 37 20 16360188 16360188 + Missense_Mutation SNP T T C TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr20:16360188T>C ENST00000354981.2 - 19 2616 c.2459A>G c.(2458-2460)aAg>aGg p.K820R KIF16B_ENST00000355755.3_Missense_Mutation_p.K820R|KIF16B_ENST00000378003.2_Missense_Mutation_p.K46R|KIF16B_ENST00000408042.1_Missense_Mutation_p.K820R NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 820 Glu-rich. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 CAGTTGAGCCTTTTCTAACTC 0.517000 3 87 0 0 0.004672 0 0 HECW2 57520 broad.mit.edu 37 2 197182030 197182030 + Missense_Mutation SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr2:197182030C>T ENST00000260983.2 - 10 2584 c.2402G>A c.(2401-2403)cGg>cAg p.R801Q HECW2_ENST00000409111.1_Missense_Mutation_p.R445Q NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 801 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CCTCTGGTACCGGCTAACATC 0.517000 6 14 0 0 0.001168 0 0 OPA3 80207 broad.mit.edu 37 19 46056884 46056884 + Missense_Mutation SNP G G A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr19:46056884G>A ENST00000263275.4 - 2 482 c.428C>T c.(427-429)gCg>gTg p.A143V OPA3_ENST00000323060.3_Intron|OPA3_ENST00000544371.1_Missense_Mutation_p.A90V NM_025136.3 NP_079412.1 Q9H6K4 OPA3_HUMAN optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 143 response to stimulus|visual perception mitochondrion cervix(1)|large_intestine(1)|lung(2) 4 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242) CTGTGGCGGCGCCGCCTGCAC 0.726000 7 41 0 0 0.001984 0 0 GAB2 9846 broad.mit.edu 37 11 77937653 77937653 + Silent SNP G G A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr11:77937653G>A ENST00000361507.4 - 4 1150 c.1065C>T c.(1063-1065)ccC>ccT p.P355P GAB2_ENST00000340149.2_Silent_p.P317P NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 355 osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) TTGGCTTGGGGGGGCGGGGTG 0.582000 24 53 0 0 0.004656 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr16:90161902A>G ENST00000564451.1 + 0 1255 TUBB8P7_ENST00000567960.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 4 44 0 0 0.000602 0 0 RRN3P1 730092 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 5 16 0 0 0.001168 0 0 AJUBA 84962 broad.mit.edu 37 14 23444255 23444255 + Missense_Mutation SNP T T A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr14:23444255T>A ENST00000262713.2 - 5 1673 c.1298A>T c.(1297-1299)aAc>aTc p.N433I RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000397388.3_Missense_Mutation_p.N16I|AJUBA_ENST00000361265.4_Missense_Mutation_p.N433I NM_032876.4 NP_116265.1 Q96IF1 JUB_HUMAN ajuba LIM protein 433 LIM zinc-binding 2. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding CAGGCACTTGTTGCAAACAAT 0.522000 57 32 0 0 0.014410 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 3 105 0 0 0.000602 0 0 EPHA10 284656 broad.mit.edu 37 1 38227344 38227344 + Missense_Mutation SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr1:38227344C>T ENST00000373048.4 - 3 582 c.583G>A c.(583-585)Gtg>Atg p.V195M EPHA10_ENST00000427468.2_Missense_Mutation_p.V195M|EPHA10_ENST00000319637.6_Missense_Mutation_p.V195M NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 195 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CATGCGCCCACGTCCTGAAAG 0.682000 18 43 0 0 0.010504 0 0 PDGFRB 5159 broad.mit.edu 37 5 149514571 149514571 + Missense_Mutation SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr5:149514571C>T ENST00000261799.4 - 4 842 c.373G>A c.(373-375)Gtg>Atg p.V125M NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 125 aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) AGGAAGCCCACGGTGGGATCT 0.522000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 41 33 0 0 0.006230 0 0 DENND5B 160518 broad.mit.edu 37 12 31586050 31586050 + Silent SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr12:31586050C>T ENST00000354285.4 - 9 2390 c.2211G>A c.(2209-2211)gcG>gcA p.A737A DENND5B_ENST00000306833.6_Intron|DENND5B_ENST00000389082.5_Intron|DENND5B_ENST00000536562.1_Intron Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 0 integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 TAGTTCATGGCGCTTGCTGTG 0.428000 32 65 0 0 0.008361 0 0 MALAT1 378938 broad.mit.edu 37 11 65265609 65265609 + RNA SNP G G C TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr11:65265609G>C ENST00000534336.1 + 0 377 AP000769.7_ENST00000602344.1_lincRNA NR_002819.2 AGCAGACCCAGAGCAGTGTAA 0.463000 13 38 0 0 0.001855 0 0 MPO 4353 broad.mit.edu 37 17 56352927 56352927 + Silent SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr17:56352927C>T ENST00000340482.3 - 7 1613 c.1437G>A c.(1435-1437)cgG>cgA p.R479R MPO_ENST00000225275.3_Silent_p.R447R P05164 PERM_HUMAN myeloperoxidase 447 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) CCACGATCTTCCGGGCTTCCT 0.607000 14 44 0 0 0.006122 0 0 MPP5 64398 broad.mit.edu 37 14 67779302 67779302 + Missense_Mutation SNP G G A rs150659640 TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr14:67779302G>A ENST00000261681.4 + 9 1761 c.1100G>A c.(1099-1101)cGa>cAa p.R367Q ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_Missense_Mutation_p.R333Q NM_022474.3 NP_071919.2 Q8N3R9 MPP5_HUMAN membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) 367 SH3. tight junction assembly cytoplasm|endomembrane system|tight junction protein domain specific binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 18 all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106) GTTCCATGTCGAGAGTTAGGT 0.393000 58 18 0 0 0.014410 0 0 SOBP 55084 broad.mit.edu 37 6 107956339 107956339 + Missense_Mutation SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr6:107956339C>T ENST00000317357.5 + 6 2950 c.2291C>T c.(2290-2292)gCg>gTg p.A764V SOBP_ENST00000494935.1_3'UTR NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 764 metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) GAGGAACCGGCGGTGAGCGAG 0.711000 7 27 0 0 0.001984 0 0 CDC42 998 broad.mit.edu 37 1 22408230 22408230 + Missense_Mutation SNP G G A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr1:22408230G>A ENST00000344548.3 + 4 372 c.121G>A c.(121-123)Gca>Aca p.A41T CDC42_ENST00000421089.2_Missense_Mutation_p.A83T|CDC42_ENST00000400259.1_Missense_Mutation_p.A41T|CDC42_ENST00000315554.8_Missense_Mutation_p.A41T|CDC42_ENST00000498236.1_3'UTR NM_001039802.1 NP_001034891.1 P60953 CDC42_HUMAN cell division cycle 42 41 actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|filopodium|plasma membrane GTP binding|GTPase activity|protein binding|thioesterase binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4) 12 Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792) UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207) TGACAACTATGCAGTCACAGT 0.348000 35 63 0 0 0.003271 0 0 PRKAA2 5563 broad.mit.edu 37 1 57161705 57161705 + Missense_Mutation SNP A A G TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr1:57161705A>G ENST00000371244.4 + 6 727 c.661A>G c.(661-663)Acg>Gcg p.T221A NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 221 Protein kinase. carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 GCATGTACCTACGTTATTTAA 0.448000 137 179 0 0 0.014410 0 0 TP63 8626 broad.mit.edu 37 3 189349311 189349311 + Missense_Mutation SNP T T C TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr3:189349311T>C ENST00000264731.3 + 1 96 c.7T>C c.(7-9)Ttt>Ctt p.F3L TP63_ENST00000392460.3_Missense_Mutation_p.F3L|TP63_ENST00000418709.2_Missense_Mutation_p.F3L|TP63_ENST00000440651.2_Missense_Mutation_p.F3L|TP63_ENST00000382063.4_Missense_Mutation_p.F3L|TP63_ENST00000320472.5_Missense_Mutation_p.F3L NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 3 Transcription activation. anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) GGAAATGAATTTTGAAACTTC 0.378000 HNSCC(45;0.13) 73 70 0 0 0.014410 0 0 LOC220729 220729 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 6 95 0 0 0.001168 0 0 TP53I11 9537 broad.mit.edu 37 11 44958408 44958408 + Missense_Mutation SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr11:44958408C>T ENST00000533940.1 - 8 884 c.280G>A c.(280-282)Gga>Aga p.G94R TP53I11_ENST00000308212.5_Missense_Mutation_p.G94R|TP53I11_ENST00000531130.2_5'UTR|TP53I11_ENST00000525680.1_Missense_Mutation_p.G94R|TP53I11_ENST00000531928.2_Missense_Mutation_p.G94R|TP53I11_ENST00000395648.3_Missense_Mutation_p.G94R NM_001258320.1 NP_001245249.1 O14683 P5I11_HUMAN tumor protein p53 inducible protein 11 94 negative regulation of cell proliferation|response to stress integral to membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1) 5 ACCTGGGCTCCATCAAAGACC 0.687000 OREG0020923 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 26 0 0 0.010729 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67315718 67315718 + Missense_Mutation SNP A A G TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr16:67315718A>G ENST00000360461.5 + 6 3518 c.983A>G c.(982-984)cAg>cGg p.Q328R PLEKHG4_ENST00000427155.2_Missense_Mutation_p.Q328R|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.Q247R|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.Q328R NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 328 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) TACTGCCACCAGGCCTGGCTG 0.617000 4 104 0 0 0.009096 0 0 C1orf43 25912 broad.mit.edu 37 1 154179930 154179930 + Nonstop_Mutation SNP C C G TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr1:154179930C>G ENST00000368521.5 - 7 959 c.761G>C c.(760-762)tGa>tCa p.*254S C1orf43_ENST00000350592.3_Nonstop_Mutation_p.*220S|C1orf43_ENST00000362076.4_Nonstop_Mutation_p.*202S|C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000368519.1_Nonstop_Mutation_p.*236S NM_001098616.1 NP_001092086.1 Q9BWL3 CA043_HUMAN chromosome 1 open reading frame 43 0 integral to membrane coenzyme binding|oxidoreductase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1) 10 all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877) TCAGCTCCGTCACAGAGTACT 0.517000 3 159 0 0 0.004672 0 0 ZNF251 90987 broad.mit.edu 37 8 145948537 145948537 + Missense_Mutation SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr8:145948537C>T ENST00000292562.7 - 5 783 c.508G>A c.(508-510)Gtg>Atg p.V170M ZNF251_ENST00000524394.1_Intron NM_138367.1 NP_612376.1 Q9BRH9 ZN251_HUMAN zinc finger protein 251 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) TCCCTGCCCACGGTAGCTTCT 0.438000 106 133 0 0 0.014410 0 0 FOSL2 2355 broad.mit.edu 37 2 28627022 28627022 + Missense_Mutation SNP A A G TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr2:28627022A>G ENST00000264716.4 + 2 1014 c.151A>G c.(151-153)Atc>Gtc p.I51V FOSL2_ENST00000379619.1_Missense_Mutation_p.I26V|FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000545753.1_Missense_Mutation_p.I12V NM_005253.3 NP_005244.1 P15408 FOSL2_HUMAN FOS-like antigen 2 51 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155) CATCCCCACCATCAACGCCAT 0.517000 27 98 0 0 0.005443 0 0 HIST1H2AD 3013 broad.mit.edu 37 6 26199448 26199448 + Silent SNP G G A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr6:26199448G>A ENST00000341023.1 - 1 23 c.24C>T c.(22-24)ggC>ggT p.G8G HIST1H3D_ENST00000377831.5_5'UTR NM_021065.2 NP_066409.1 P20671 H2A1D_HUMAN histone cluster 1, H2ad 8 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6 all_hematologic(11;0.196) GGGCCTTTCCGCCTTGCTTGC 0.507000 12 29 0 0 0.001855 0 0 RSAD2 91543 broad.mit.edu 37 2 7027109 7027109 + Silent SNP C C T rs111620392 byFrequency TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr2:7027109C>T ENST00000382040.3 + 3 688 c.552C>T c.(550-552)gaC>gaT p.D184D RSAD2_ENST00000541728.1_Silent_p.D77D NM_080657.4 NP_542388.2 Q8WXG1 RSAD2_HUMAN radical S-adenosyl methionine domain containing 2 184 defense response to virus endoplasmic reticulum membrane|Golgi apparatus catalytic activity|iron-sulfur cluster binding|metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1) 20 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) OV - Ovarian serous cystadenocarcinoma(76;0.191) ACAGCTTTGACGAGGAAGTCA 0.458000 15 37 0 0 0.003163 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr9:21971120G>A ENST00000304494.5 - 2 508 c.238C>T c.(238-240)Cga>Tga p.R80* CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 80 R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TGCACGGGTCGGGTGAGAGTG 0.726000 R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 17 10 0 0 0.010504 0 0 NEUROG3 50674 broad.mit.edu 37 10 71332754 71332754 + Missense_Mutation SNP C C T rs146974265 TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr10:71332754C>T ENST00000242462.4 - 2 75 c.46G>A c.(46-48)Gag>Aag p.E16K NM_020999.3 NP_066279.2 Q9Y4Z2 NGN3_HUMAN neurogenin 3 16 central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus transcription coactivator activity endometrium(4)|large_intestine(2)|lung(6)|prostate(1) 13 CGCTCCGTCTCACGGGTCACT 0.677000 17 44 0 0 0.004990 0 0 LIMS1 3987 broad.mit.edu 37 2 109292348 109292348 + Missense_Mutation SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr2:109292348C>T ENST00000393310.1 + 6 676 c.509C>T c.(508-510)gCc>gTc p.A170V LIMS1_ENST00000410093.1_Missense_Mutation_p.A174V|LIMS1_ENST00000338045.3_Missense_Mutation_p.A170V|LIMS1_ENST00000544547.1_Missense_Mutation_p.A182V|LIMS1_ENST00000332345.6_Missense_Mutation_p.A170V|LIMS1_ENST00000542845.1_Missense_Mutation_p.A232V|LIMS1_ENST00000409441.1_Missense_Mutation_p.A207V NM_001193488.1 NP_001180417.1 P48059 LIMS1_HUMAN LIM and senescent cell antigen-like domains 1 170 LIM zinc-binding 3. cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent cytosol|focal adhesion|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 10 GAGCTGACTGCCGATGCACGG 0.527000 4 93 0 0 0.000602 0 0 MTRR 4552 broad.mit.edu 37 5 7870928 7870928 + Silent SNP A A G rs114427781 by1000genomes TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr5:7870928A>G ENST00000264668.2 + 2 132 c.102A>G c.(100-102)ctA>ctG p.L34L MTRR_ENST00000341013.6_Silent_p.L7L|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000440940.2_Silent_p.L7L NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 34 Flavodoxin-like. methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding p.L34L(1) NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) TTCTGTTACTATATGCTACAC 0.403000 24 30 0 0 0.014323 0 0 MYO15A 51168 broad.mit.edu 37 17 18022714 18022714 + Silent SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr17:18022714C>T ENST00000205890.5 + 2 938 c.600C>T c.(598-600)ggC>ggT p.G200G NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 200 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) ACGCGTCAGGCGAGCCCCTGG 0.706000 12 41 0 0 0.010729 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503125 140503125 + Silent SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr5:140503125C>T ENST00000194152.1 + 1 1545 c.1545C>T c.(1543-1545)ctC>ctT p.L515L NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 515 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGTTCGCCCTCAGGTCGCTGG 0.697000 52 121 0 0 0.014410 0 0 GLRA2 2742 broad.mit.edu 37 X 14748491 14748491 + Missense_Mutation SNP G G A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chrX:14748491G>A ENST00000218075.4 + 9 1773 c.1243G>A c.(1243-1245)Gca>Aca p.A415T GLRA2_ENST00000355020.4_Missense_Mutation_p.A415T|GLRA2_ENST00000443437.2_Missense_Mutation_p.A326T NM_002063.3 NP_002054.1 P23416 GLRA2_HUMAN glycine receptor, alpha 2 415 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) TGTGGACCGGGCAAAAAGGAT 0.473000 4 78 0 0 0.000602 0 0 RAB9BP1 9366 broad.mit.edu 37 5 104435344 104435344 + RNA SNP C C T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr5:104435344C>T ENST00000522464.1 - 0 68 RP11-6N13.1_ENST00000503650.1_lincRNA CATTTTGGTACCAAGTAGAAT 0.398000 24 56 0 0 0.014323 0 0 MAP1B 4131 broad.mit.edu 37 5 71494372 71494372 + Silent SNP G G A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr5:71494372G>A ENST00000296755.7 + 5 5488 c.5190G>A c.(5188-5190)ccG>ccA p.P1730P NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1730 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) AGGCCTCCCCGTCCACCTCTT 0.483000 84 121 0 0 0.014410 0 0 UNC79 57578 broad.mit.edu 37 14 94088226 94088226 + Silent SNP A A G TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr14:94088226A>G ENST00000553484.1 + 31 4867 c.4713A>G c.(4711-4713)agA>agG p.R1571R UNC79_ENST00000256339.4_Silent_p.R1372R|UNC79_ENST00000393151.2_Silent_p.R1549R|UNC79_ENST00000555664.1_Silent_p.R1549R Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1549 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GACGTTCTAGACAGAACTCTG 0.512000 68 33 0 0 0.014410 0 0 GRAMD1C 54762 broad.mit.edu 37 3 113659107 113659107 + Nonsense_Mutation SNP C C G TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr3:113659107C>G ENST00000358160.4 + 17 2315 c.1823C>G c.(1822-1824)tCa>tGa p.S608* GRAMD1C_ENST00000440446.2_Nonsense_Mutation_p.S403*|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Nonsense_Mutation_p.S441*|GRAMD1C_ENST00000452134.2_Nonsense_Mutation_p.S337* NM_017577.4 NP_060047.3 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 608 integral to membrane NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 GATATGGTGTCAAGAGCAGAA 0.408000 53 169 0 0 0.014410 0 0 HIST2H2BB 338391 broad.mit.edu 37 1 149377834 149377839 + RNA DEL TCTTTG TCTTTG - TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr1:149377834_149377839delTCTTTG ENST00000415338.1 - 0 1061 GTATCTCTTCTCTTTGTCTTTTTCTG 0.461 3 4 --- --- --- --- KCNT2 343450 broad.mit.edu 37 1 196311261 196311262 + Frame_Shift_Ins INS - - A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr1:196311261_196311262insA ENST00000367433.5 - 15 1601_1602 c.1500_1501insT c.(1498-1503)ttctgafs p.*501fs KCNT2_ENST00000451324.2_Frame_Shift_Ins_p.*112fs|KCNT2_ENST00000294725.8_Frame_Shift_Ins_p.*501fs|KCNT2_ENST00000367431.4_Intron|KCNT2_ENST00000498426.1_5'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 501 RCK N-terminal. voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TCATATTCAGCAAAAAATGTAC 0.391 16 34 --- --- --- --- STK25 10494 broad.mit.edu 37 2 242438109 242438110 + Frame_Shift_Ins INS - - A TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr2:242438109_242438110insA ENST00000316586.4 - 8 1210_1211 c.861_862insT c.(859-864)taagcgfs p.*A287fs STK25_ENST00000543554.1_Frame_Shift_Ins_p.*A193fs|STK25_ENST00000401869.1_Frame_Shift_Ins_p.*A287fs|STK25_ENST00000405883.3_Frame_Shift_Ins_p.*A210fs|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000405585.1_Frame_Shift_Ins_p.*A210fs|STK25_ENST00000535007.1_Frame_Shift_Ins_p.*A193fs|STK25_ENST00000403346.3_Frame_Shift_Ins_p.*A287fs NM_001271977.1|NM_001271978.1 NP_001258906.1|NP_001258907.1 O00506 STK25_HUMAN serine/threonine kinase 25 287 response to oxidative stress|signal transduction Golgi apparatus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 10 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) TTCCAGCGCTTATAGCGGTCGA 0.584 27 104 --- --- --- --- C8orf37-AS1 100616530 broad.mit.edu 37 8 96415908 96415915 + RNA DEL TTTTTTTT TTTTTTTT - rs59279759 TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr8:96415908_96415915delTTTTTTTT ENST00000521905.1 + 0 126 aataaaAGACtttttttttttttttttt 0.327 2 4 --- --- --- --- RP11-34D15.2 0 broad.mit.edu 37 10 102104600 102104601 + RNA INS - - T TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr10:102104600_102104601insT ENST00000429420.1 - 0 103 AAAAATCACAAttttttttttt 0.401 3 3 --- --- --- --- GABRA5 2558 broad.mit.edu 37 15 27188544 27188544 + Frame_Shift_Del DEL A A - TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr15:27188544delA ENST00000335625.5 + 10 1948 c.1060delA c.(1060-1062)aafs p.K355fs GABRA5_ENST00000355395.5_Frame_Shift_Del_p.K355fs|GABRA5_ENST00000400081.3_Frame_Shift_Del_p.K355fs NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 355 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTGGGATGGCAAAAAAGCCTT 0.498 2 4 --- --- --- --- ZNF587B 100293516 broad.mit.edu 37 19 58352693 58352693 + Frame_Shift_Del DEL A A - TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr19:58352693delA ENST00000442832.4 + 3 885 c.651delA c.(649-651)ggfs p.G217fs ZNF587B_ENST00000594901.1_Frame_Shift_Del_p.G217fs|CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000316462.4_Intron NM_001204818.1 NP_001191747.1 B4DR41 B4DR41_HUMAN zinc finger protein 587B 217 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ATAGCCATGGAGATTCCATGA 0.473 8 20 --- --- --- --- BCL2L1 598 broad.mit.edu 37 20 30309591 30309591 + Frame_Shift_Del DEL A A - TCGA-CN-6998-01A-23D-2012-08 TCGA-CN-6998-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9c364f7e-5b90-44ef-9f80-250e428989ef 87130101-046f-4b71-9ed9-79b2d8556e64 g.chr20:30309591delA ENST00000307677.4 - 2 841 c.431delT c.(430-432)tcfs p.F144fs BCL2L1_ENST00000420653.1_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376062.2_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376055.4_Intron NM_138578.1 NP_612815.1 Q07817 B2CL1_HUMAN BCL2-like 1 144 induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nuclear membrane BH3 domain binding|identical protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) GCCGAAGGAGAAAAAGGCCAC 0.542 7 365 --- --- --- ---