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 GUSB 2990 broad.mit.edu 37 7 65426002 65426002 + Missense_Mutation SNP C C G TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr7:65426002C>G ENST00000304895.4 - 12 1968 c.1838G>C c.(1837-1839)aGa>aCa p.R613T GUSB_ENST00000345660.6_Missense_Mutation_p.R562T|GUSB_ENST00000421103.1_Missense_Mutation_p.R467T NM_000181.3 NP_000172.2 P08236 BGLR_HUMAN glucuronidase, beta 613 glycosaminoglycan catabolic process lysosome beta-glucuronidase activity|cation binding breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1) 20 TTTTGGTTGTCTCTGCCGAGT 0.448000 27 198 0 0 1 0 0 BARD1 580 broad.mit.edu 37 2 215617235 215617235 + Missense_Mutation SNP C C A TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr2:215617235C>A ENST00000260947.4 - 7 1747 c.1613G>T c.(1612-1614)aGt>aTt p.S538I BARD1_ENST00000449967.2_Missense_Mutation_p.S394I NM_000465.2 NP_000456.2 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 538 cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1) 35 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CGATTTCATACTTTCATCATC 0.373000 Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 7 74 1.12685e-05 1.22545e-05 1 1 0 FGD6 55785 broad.mit.edu 37 12 95604446 95604446 + Missense_Mutation SNP C C A rs146520684 TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr12:95604446C>A ENST00000343958.4 - 2 837 c.614G>T c.(613-615)aGc>aTc p.S205I FGD6_ENST00000549499.1_Missense_Mutation_p.S205I|FGD6_ENST00000546711.1_Missense_Mutation_p.S205I NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 205 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 CATTTCTGGGCTGTCTGTGGG 0.418000 7 85 2.7689e-08 3.16966e-08 1 1 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 3 64 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163360993 163360993 + Missense_Mutation SNP A A G TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr2:163360993A>G ENST00000332142.5 - 6 1187 c.1088T>C c.(1087-1089)gTt>gCt p.V363A KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.V356A NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 363 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TCGATCTTTAACCTTGGGTGC 0.373000 17 130 0 0 1 0 0 TRPV2 51393 broad.mit.edu 37 17 16336965 16336965 + Silent SNP C C T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr17:16336965C>T ENST00000338560.7 + 13 2466 c.2067C>T c.(2065-2067)acC>acT p.T689T TRPV2_ENST00000577397.1_Silent_p.T259T NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 689 sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TGATGCTGACCGTTGGCACTA 0.587000 32 90 0 0 1 0 0 CCDC84 338657 broad.mit.edu 37 11 118881943 118881943 + Missense_Mutation SNP A A G TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr11:118881943A>G ENST00000334418.1 + 5 519 c.463A>G c.(463-465)Atc>Gtc p.I155V CCDC84_ENST00000580556.1_3'UTR NM_198489.1 NP_940891.1 Q86UT8 CCD84_HUMAN coiled-coil domain containing 84 155 breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1) 5 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243) BRCA - Breast invasive adenocarcinoma(274;7.72e-05) GGCAGCTCAGATCCGTGAGGT 0.562000 7 52 0 0 1 0 0 TXNDC9 10190 broad.mit.edu 37 2 99944026 99944026 + Missense_Mutation SNP A A T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr2:99944026A>T ENST00000264255.3 - 3 535 c.280T>A c.(280-282)Tgc>Agc p.C94S TXNDC9_ENST00000409434.1_Missense_Mutation_p.C94S NM_005783.3 NP_005774.2 O14530 TXND9_HUMAN thioredoxin domain containing 9 94 Thioredoxin. cell redox homeostasis protein binding lung(1) 1 TAGAAATGGCAAACCACATTT 0.378000 5 41 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T rs28934576 by1000genomes TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr17:7577120C>T ENST00000420246.2 - 8 950 c.818G>A c.(817-819)cGt>cAt p.R273H TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GGCACAAACACGCACCTCAAA 0.542000 R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM) 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) 8 16 0 0 1 0 0 PTPRE 5791 broad.mit.edu 37 10 129877893 129877893 + Silent SNP A A C rs17854594 TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr10:129877893A>C ENST00000254667.3 + 20 2241 c.1962A>C c.(1960-1962)ggA>ggC p.G654G PTPRE_ENST00000419012.2_Silent_p.G654G|PTPRE_ENST00000306042.5_Silent_p.G596G NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 654 Tyrosine-protein phosphatase 2. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) AAGCCGAGGGACTTTTAGATG 0.448000 5 46 0 0 1 0 0 OR10K2 391107 broad.mit.edu 37 1 158389942 158389942 + Missense_Mutation SNP A A G TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr1:158389942A>G ENST00000314902.2 - 1 714 c.715T>C c.(715-717)Tct>Cct p.S239P NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) ACACAGGTAGAAAAAGCTTTG 0.473000 6 85 0 0 1 0 0 MMP15 4324 broad.mit.edu 37 16 58071493 58071493 + Missense_Mutation SNP G G C TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr16:58071493G>C ENST00000219271.3 + 2 1065 c.280G>C c.(280-282)Gtc>Ctc p.V94L NM_002428.2 NP_002419.1 P51511 MMP15_HUMAN matrix metallopeptidase 15 (membrane-inserted) 94 protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 18 CGGGATCCCAGTCACCGGTGT 0.627000 8 93 0 0 1 0 0 FAM218A 152756 broad.mit.edu 37 4 165878636 165878636 + Silent SNP A A G TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr4:165878636A>G ENST00000513876.2 + 1 537 c.462A>G c.(460-462)tcA>tcG p.S154S TRIM61_ENST00000329314.5_Intron NM_153027.1 NP_694572.1 Q96MZ4 CD039_HUMAN family with sequence similarity 218, member A 154 CGCTGGGCTCACCTGTCCTAT 0.498000 7 39 0 0 1 0 0 LRRC45 201255 broad.mit.edu 37 17 79985312 79985312 + Silent SNP G G A TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr17:79985312G>A ENST00000306688.3 + 7 1167 c.825G>A c.(823-825)aaG>aaA p.K275K NM_144999.2 NP_659436.1 Q96CN5 LRC45_HUMAN leucine rich repeat containing 45 275 centrosome lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 5 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) AGATGGCCAAGAGCAGCAGGT 0.617000 12 90 0 0 1 0 0 CHRNG 1146 broad.mit.edu 37 2 233409224 233409224 + Missense_Mutation SNP C C T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr2:233409224C>T ENST00000389494.3 + 10 1204 c.1183C>T c.(1183-1185)Cgc>Tgc p.R395C CHRNG_ENST00000389492.3_Missense_Mutation_p.R343C NM_005199.4 NP_005190.4 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma (muscle) 395 muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) CTGCCTGCCTCGCAGTGAACT 0.657000 12 108 0 0 1 0 0 TRIM38 10475 broad.mit.edu 37 6 25983471 25983471 + Silent SNP C C T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr6:25983471C>T ENST00000357085.3 + 8 1430 c.954C>T c.(952-954)taC>taT p.Y318Y TRIM38_ENST00000349458.3_Silent_p.Y318Y NM_006355.3 NP_006346.1 O00635 TRI38_HUMAN tripartite motif containing 38 318 B30.2/SPRY. positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular signal transducer activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 23 CTCGTGGATACACCCAGGAGA 0.463000 9 54 0 0 1 0 0 RECK 8434 broad.mit.edu 37 9 36058859 36058859 + Missense_Mutation SNP T T G TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr9:36058859T>G ENST00000377966.3 + 3 761 c.195T>G c.(193-195)caT>caG p.H65Q RECK_ENST00000479053.1_3'UTR NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 65 5 X Knot repeats. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) GACTAAAACATCTGTTGCAGC 0.328000 7 45 0 0 1 0 0 PFKFB3 5209 broad.mit.edu 37 10 6265929 6265929 + Missense_Mutation SNP C C T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr10:6265929C>T ENST00000379775.4 + 12 1552 c.1222C>T c.(1222-1224)Ccc>Tcc p.P408S PFKFB3_ENST00000360521.2_Missense_Mutation_p.P408S|PFKFB3_ENST00000540253.1_Missense_Mutation_p.P422S|PFKFB3_ENST00000317350.4_Missense_Mutation_p.P408S|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379785.1_Missense_Mutation_p.P408S|PFKFB3_ENST00000379782.3_Missense_Mutation_p.P408S|PFKFB3_ENST00000379789.4_Missense_Mutation_p.P388S NM_004566.3 NP_004557.1 Q16875 F263_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 408 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1) 22 AGAGGAGATGCCCTACCTGAA 0.562000 4 164 0 0 1 0 0 STAR 6770 broad.mit.edu 37 8 38006158 38006158 + Splice_Site SNP C C T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr8:38006158C>T ENST00000276449.4 - 2 625 c.e2+1 NM_000349.2 NP_000340.2 P49675 STAR_HUMAN steroidogenic acute regulatory protein C21-steroid hormone biosynthetic process mitochondrial intermembrane space cholesterol transporter activity breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 Colorectal(12;0.000442) all_lung(54;0.0151)|Lung NSC(58;0.0295) READ - Rectum adenocarcinoma(644;0.188) TCAGCACTTACCGAGTAGAGA 0.637000 8 52 0 0 1 0 0 DHX33 56919 broad.mit.edu 37 17 5347733 5347733 + Missense_Mutation SNP C C G TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr17:5347733C>G ENST00000225296.3 - 12 2116 c.1916G>C c.(1915-1917)gGc>gCc p.G639A DHX33_ENST00000433302.3_Missense_Mutation_p.G415A NM_001199699.1|NM_020162.3 NP_001186628.1|NP_064547.2 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 639 nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GGCATAGGTGCCATCTGGCTG 0.622000 10 60 0 0 1 0 0 CNTRL 11064 broad.mit.edu 37 9 123914807 123914807 + Silent SNP A A G TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr9:123914807A>G ENST00000373855.1 + 26 4268 c.4008A>G c.(4006-4008)aaA>aaG p.K1336K CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Silent_p.K784K|CNTRL_ENST00000373847.1_Silent_p.K784K|CNTRL_ENST00000238341.5_Silent_p.K1336K Q7Z7A1 CNTRL_HUMAN centriolin 1336 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 AGCATTTAAAATCAAAGAAGC 0.398000 7 105 0 0 1 0 0 OLFM2 93145 broad.mit.edu 37 19 9965152 9965152 + Missense_Mutation SNP G G A TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr19:9965152G>A ENST00000264833.4 - 6 1260 c.1075C>T c.(1075-1077)Cgg>Tgg p.R359W OLFM2_ENST00000590841.1_Missense_Mutation_p.R281W NM_058164.2 NP_477512.1 O95897 NOE2_HUMAN olfactomedin 2 359 Olfactomedin-like. extracellular region breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 31 TCCCAGGACCGCATGACCTCG 0.657000 4 116 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45459744 45459744 + Missense_Mutation SNP G G A TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr6:45459744G>A ENST00000371438.1 + 5 1110 c.752G>A c.(751-753)cGc>cAc p.R251H RUNX2_ENST00000359524.5_Missense_Mutation_p.R237H|RUNX2_ENST00000576263.1_Missense_Mutation_p.R251H|RUNX2_ENST00000541979.1_Missense_Mutation_p.R319H|RUNX2_ENST00000371436.6_Missense_Mutation_p.R251H|RUNX2_ENST00000371432.3_Missense_Mutation_p.R237H|RUNX2_ENST00000465038.2_Missense_Mutation_p.R251H|RUNX2_ENST00000352853.5_Missense_Mutation_p.R319H NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 251 Pro/Ser/Thr-rich. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 GATTTAGGGCGCATTCCTCAT 0.473000 4 156 0 0 1 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26887589 26887589 + Silent SNP G G T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr1:26887589G>T ENST00000374168.2 + 16 1549 c.1395G>T c.(1393-1395)cgG>cgT p.R465R RPS6KA1_ENST00000374166.4_Silent_p.R454R|RPS6KA1_ENST00000526792.1_Silent_p.R373R|RPS6KA1_ENST00000374162.2_Silent_p.R373R|RPS6KA1_ENST00000531382.1_Silent_p.R474R|RPS6KA1_ENST00000530003.1_Silent_p.R449R NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 465 Protein kinase 2. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) TTCTTCTGCGGTATGGCCAGC 0.527000 4 48 0.00909568 0.00942053 1 1 0 FASN 2194 broad.mit.edu 37 17 80040889 80040889 + Missense_Mutation SNP C C T rs139792253 TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr17:80040889C>T ENST00000306749.2 - 33 5886 c.5668G>A c.(5668-5670)Gct>Act p.A1890T FASN_ENST00000579758.1_5'UTR NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 1890 Beta-ketoacyl reductase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) AGACCACCAGCGATGATGTAG 0.632000 5 61 0 0 1 0 0 GCOM1 145781 broad.mit.edu 37 15 57913834 57913834 + Missense_Mutation SNP A A T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr15:57913834A>T ENST00000574161.1 + 4 466 c.347A>T c.(346-348)aAg>aTg p.K116M GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000380568.3_Missense_Mutation_p.K116M|GCOM1_ENST00000396180.1_Intron|MYZAP_ENST00000380565.4_Missense_Mutation_p.K116M|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000587652.1_Missense_Mutation_p.K116M|GCOM1_ENST00000380560.2_Intron|GCOM1_ENST00000380569.2_Missense_Mutation_p.K116M|MYZAP_ENST00000267853.5_Missense_Mutation_p.K116M|GCOM1_ENST00000572390.1_Missense_Mutation_p.K116M NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 116 intracellular signal transduction extrinsic to internal side of plasma membrane|I band endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 AAGGTGAGAAAGCGAATGTAT 0.403000 10 80 0 0 1 0 0 FEZF1 389549 broad.mit.edu 37 7 121942264 121942264 + Silent SNP G G A TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr7:121942264G>A ENST00000442488.2 - 4 1282 c.1215C>T c.(1213-1215)tgC>tgT p.C405C FEZF1_ENST00000427185.2_Silent_p.C355C|FEZF1_ENST00000331178.4_Silent_p.C401C NM_001024613.2|NM_001160264.1 NP_001019784.2|NP_001153736.1 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 405 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1) 25 AACCCTTGCCGCACGTGGGGC 0.572000 4 123 0 0 1 0 0 STRADB 55437 broad.mit.edu 37 2 202337801 202337801 + Splice_Site SNP T T A TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr2:202337801T>A ENST00000194530.3 + 5 680 c.e5+2 STRADB_ENST00000392249.2_Splice_Site NM_001206864.1|NM_018571.5 NP_001193793.1|NP_061041.2 Q9C0K7 STRAB_HUMAN STE20-related kinase adaptor beta activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|protein binding|protein kinase activity breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1) 13 GCTTTACAGGTAACAATATGA 0.368000 10 77 0 0 1 0 0 C9orf84 158401 broad.mit.edu 37 9 114520394 114520394 + Missense_Mutation SNP C C A TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr9:114520394C>A ENST00000394779.3 - 3 613 c.369G>T c.(367-369)gaG>gaT p.E123D C9orf84_ENST00000374283.5_Missense_Mutation_p.E226D|C9orf84_ENST00000374287.3_Missense_Mutation_p.E162D|C9orf84_ENST00000394777.4_Missense_Mutation_p.E123D|C9orf84_ENST00000318737.4_Missense_Mutation_p.E162D NM_001080551.1 NP_001074020.1 Q5VXU9 CI084_HUMAN chromosome 9 open reading frame 84 162 breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 CTTCTAGTTTCTCTTGACAAA 0.269000 5 16 0.0215528 0.0220599 1 1 0 LCE1F 353137 broad.mit.edu 37 1 152748927 152748927 + Missense_Mutation SNP C C A TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr1:152748927C>A ENST00000334371.2 + 1 80 c.80C>A c.(79-81)cCg>cAg p.P27Q NM_178354.2 NP_848131.1 Q5T754 LCE1F_HUMAN late cornified envelope 1F 27 Pro-rich. keratinization kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) tgccccacaccgaagtgcccc 0.657000 11 86 1.58986e-06 1.77331e-06 1 1 0 KIAA0195 9772 broad.mit.edu 37 17 73484066 73484066 + Missense_Mutation SNP C C T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr17:73484066C>T ENST00000314256.7 + 6 857 c.463C>T c.(463-465)Ctc>Ttc p.L155F KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000583795.1_3'UTR|KIAA0195_ENST00000375248.5_Missense_Mutation_p.L165F NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 155 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) GTATCCAGACCTCCACATGCC 0.587000 6 67 0 0 1 0 0 LARP1B 55132 broad.mit.edu 37 4 129043120 129043120 + Missense_Mutation SNP A A C TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr4:129043120A>C ENST00000326639.6 + 11 1512 c.1301A>C c.(1300-1302)aAt>aCt p.N434T LARP1B_ENST00000512292.1_Missense_Mutation_p.N434T|LARP1B_ENST00000427266.1_Missense_Mutation_p.N434T|LARP1B_ENST00000264584.5_Missense_Mutation_p.N387T|LARP1B_ENST00000441387.1_Missense_Mutation_p.N434T|LARP1B_ENST00000354456.3_5'UTR NM_018078.2 NP_060548.2 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family, member 1B 434 RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 TGGTCTGATAATGATTCAGAT 0.333000 9 51 0 0 1 0 0 STRA6 64220 broad.mit.edu 37 15 74474544 74474544 + Missense_Mutation SNP A A T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr15:74474544A>T ENST00000323940.5 - 16 1723 c.1478T>A c.(1477-1479)gTc>gAc p.V493D STRA6_ENST00000423167.2_Missense_Mutation_p.V484D|STRA6_ENST00000416286.3_Missense_Mutation_p.V485D|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000563965.1_Missense_Mutation_p.V532D|STRA6_ENST00000574278.1_Missense_Mutation_p.V508D|STRA6_ENST00000535552.1_Missense_Mutation_p.V530D|STRA6_ENST00000395105.4_Missense_Mutation_p.V493D|STRA6_ENST00000449139.2_Missense_Mutation_p.V493D NM_001142617.1|NM_001142618.1|NM_001142619.1 NP_001136089.1|NP_001136090.1|NP_001136091.1 Q9BX79 STRA6_HUMAN stimulated by retinoic acid 6 493 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 CTCCAGGAAGACCCAATGGGC 0.622000 8 72 0 0 1 0 0 NEUROG2 63973 broad.mit.edu 37 4 113436581 113436581 + Silent SNP T T C TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr4:113436581T>C ENST00000313341.3 - 2 377 c.51A>G c.(49-51)ttA>ttG p.L17L RP11-402J6.1_ENST00000506057.1_RNA NM_024019.3 NP_076924.1 Q9H2A3 NGN2_HUMAN neurogenin 2 17 positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent nucleus E-box binding central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2) 12 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.00168) CGAGCAGCACTAACACGTCCT 0.602000 11 36 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46252789 46252789 + Missense_Mutation SNP A A T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr20:46252789A>T ENST00000372004.3 + 4 434 c.218A>T c.(217-219)aAg>aTg p.K73M NCOA3_ENST00000371997.3_Missense_Mutation_p.K73M|NCOA3_ENST00000371998.3_Missense_Mutation_p.K73M|NCOA3_ENST00000341724.6_Missense_Mutation_p.K73M NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 73 Helix-loop-helix motif. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GCGATTTTAAAGGAAACAGTA 0.358000 6 45 0 0 1 0 0 TGOLN2 10618 broad.mit.edu 37 2 85553654 85553654 + Missense_Mutation SNP T T C TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr2:85553654T>C ENST00000377386.3 - 2 1663 c.1201A>G c.(1201-1203)Atc>Gtc p.I401V TGOLN2_ENST00000282120.2_Missense_Mutation_p.I245V|TGOLN2_ENST00000409232.3_Missense_Mutation_p.I401V|TGOLN2_ENST00000444342.2_Missense_Mutation_p.I401V|TGOLN2_ENST00000409015.1_Missense_Mutation_p.I401V|TGOLN2_ENST00000398263.2_Missense_Mutation_p.I343V O43493 TGON2_HUMAN trans-golgi network protein 2 401 integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding TGATGAGCGATATAGAGGACA 0.562000 14 76 0 0 1 0 0 SNX22 79856 broad.mit.edu 37 15 64446598 64446598 + Missense_Mutation SNP A A G TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr15:64446598A>G ENST00000325881.4 + 7 532 c.473A>G c.(472-474)aAc>aGc p.N158S NM_024798.2 NP_079074.2 Q96L94 SNX22_HUMAN sorting nexin 22 158 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding large_intestine(3)|lung(1)|urinary_tract(2) 6 TCGCTGCCCAACGTGGTGGTG 0.597000 OREG0023180 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 153 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196659265 196659265 + Missense_Mutation SNP C C G TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr1:196659265C>G ENST00000367429.4 + 9 1472 c.1232C>G c.(1231-1233)tCt>tGt p.S411C CFH_ENST00000359637.2_Missense_Mutation_p.S347C|CFH_ENST00000439155.2_Missense_Mutation_p.S411C NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 411 Sushi 7. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 CAGGGTAAATCTATAGACGTT 0.393000 4 40 0 0 1 0 0 SNRNP200 23020 broad.mit.edu 37 2 96953193 96953193 + Silent SNP C C T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr2:96953193C>T ENST00000323853.5 - 26 3545 c.3468G>A c.(3466-3468)ctG>ctA p.L1156L SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 1156 SEC63 1. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 CATTATGATTCAGGTCGTACA 0.517000 16 134 0 0 1 0 0 MPP5 64398 broad.mit.edu 37 14 67745984 67745984 + Missense_Mutation SNP C C G TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr14:67745984C>G ENST00000261681.4 + 3 758 c.97C>G c.(97-99)Cga>Gga p.R33G MPP5_ENST00000555925.1_5'UTR|MPP5_ENST00000556345.1_Missense_Mutation_p.R33G NM_022474.3 NP_071919.2 Q8N3R9 MPP5_HUMAN membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) 33 Interaction with PARD6B (By similarity). 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) TCAGAAGCACCGAGAGATGGC 0.478000 4 56 0 0 1 0 0 C6orf89 221477 broad.mit.edu 37 6 36870018 36870018 + Missense_Mutation SNP A A T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr6:36870018A>T ENST00000480824.2 + 4 505 c.211A>T c.(211-213)Atc>Ttc p.I71F C6orf89_ENST00000373685.1_Missense_Mutation_p.I71F|C6orf89_ENST00000355190.3_Missense_Mutation_p.I78F|C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000510325.2_Intron Q6UWU4 CF089_HUMAN chromosome 6 open reading frame 89 71 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 15 CTTGGGATTAATCTTGCTCAC 0.428000 11 91 0 0 1 0 0 TRGV2 6974 broad.mit.edu 37 7 38402656 38402656 + RNA SNP G G T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr7:38402656G>T ENST00000426402.2 - 0 352 TCCTGGTGTAGGTACCAGTGG 0.498000 12 71 9.31168e-06 1.02546e-05 1 1 0 CCDC101 112869 broad.mit.edu 37 16 28596281 28596281 + Silent SNP C C T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr16:28596281C>T ENST00000317058.3 + 3 310 c.123C>T c.(121-123)acC>acT p.T41T NM_138414.2 NP_612423.1 Q96ES7 SGF29_HUMAN coiled-coil domain containing 101 41 establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex methylated histone residue binding central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 TCCAGAAGACCCATGAGCGGA 0.542000 7 61 0 0 1 0 0 MTMR14 64419 broad.mit.edu 37 3 9695337 9695337 + Silent SNP G G T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr3:9695337G>T ENST00000296003.4 + 2 314 c.192G>T c.(190-192)ctG>ctT p.L64L MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Silent_p.L64L|MTMR14_ENST00000353332.5_Silent_p.L64L NM_001077525.2 NP_001070993.1 Q8NCE2 MTMRE_HUMAN myotubularin related protein 14 64 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 21 Medulloblastoma(99;0.227) GTCTGGAGCTGTTTGGCCGAG 0.507000 29 103 8.88839e-20 1.04499e-19 1 1 0 KIAA0232 9778 broad.mit.edu 37 4 6878388 6878388 + Splice_Site SNP A A T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr4:6878388A>T ENST00000307659.5 + 9 4367 c.3910_splice c.e9-1 p.E1304_splice KIAA0232_ENST00000425103.1_Splice_Site_p.E1304_splice NM_014743.2 NP_055558.2 Q92628 K0232_HUMAN KIAA0232 1304 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 ATGATTAAGAATGTTACACAA 0.363000 5 46 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64394926 64394926 + Missense_Mutation SNP A A G TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr6:64394926A>G ENST00000262043.3 + 4 1643 c.1303A>G c.(1303-1305)Atc>Gtc p.I435V PHF3_ENST00000509330.1_Missense_Mutation_p.I435V|PHF3_ENST00000393387.1_Missense_Mutation_p.I435V Q92576 PHF3_HUMAN PHD finger protein 3 435 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) GGAAAGTAATATCTTGGAAAA 0.368000 12 114 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140871023 140871023 + Missense_Mutation SNP C C T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr5:140871023C>T ENST00000252087.1 + 1 2216 c.2216C>T c.(2215-2217)cCg>cTg p.P739L PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 739 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCACCCTCCCCGGACTTCTAT 0.632000 7 80 0 0 1 0 0 MCOLN3 55283 broad.mit.edu 37 1 85506782 85506782 + Silent SNP G G A TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr1:85506782G>A ENST00000370587.1 - 4 683 c.307C>T c.(307-309)Cta>Tta p.L103L WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370589.2_Silent_p.L103L|MCOLN3_ENST00000341115.4_Intron Q8TDD5 MCLN3_HUMAN mucolipin 3 103 integral to membrane ion channel activity endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1) 34 all cancers(265;0.00957)|Epithelial(280;0.0254) TATCCTTTTAGGAAAAGGTGT 0.368000 4 72 0 0 1 0 0 YIPF7 285525 broad.mit.edu 37 4 44638032 44638032 + Missense_Mutation SNP C C T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr4:44638032C>T ENST00000332990.5 - 3 275 c.259G>A c.(259-261)Gca>Aca p.A87T NM_182592.2 NP_872398.2 Q8N8F6 YIPF7_HUMAN Yip1 domain family, member 7 87 endoplasmic reticulum membrane|integral to membrane breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1) 12 AATTGTCCTGCGTAACCCGAT 0.403000 7 35 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32617877 32617877 + Missense_Mutation SNP G G A rs146528832 TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr21:32617877G>A ENST00000286827.3 - 7 1982 c.1511C>T c.(1510-1512)gCg>gTg p.A504V TIAM1_ENST00000541036.1_Missense_Mutation_p.A504V|TIAM1_ENST00000469412.1_5'UTR NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 504 PH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CTCAGGCACCGCCTGCACAAT 0.552000 5 37 0 0 1 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140731367 140731367 + Missense_Mutation SNP C C T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr5:140731367C>T ENST00000523390.1 + 1 1540 c.1540C>T c.(1540-1542)Cgc>Tgc p.R514C PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTCGCGCAGCGCGCCTTCGA 0.682000 11 88 0 0 1 0 0 ACOT12 134526 broad.mit.edu 37 5 80640726 80640726 + Missense_Mutation SNP A A T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr5:80640726A>T ENST00000307624.3 - 8 936 c.908T>A c.(907-909)aTc>aAc p.I303N NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 303 acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) AATGGGTTGGATTCTGGGAAA 0.478000 6 61 0 0 1 0 0 ZNF367 195828 broad.mit.edu 37 9 99157147 99157147 + Missense_Mutation SNP G G A TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr9:99157147G>A ENST00000375256.4 - 3 945 c.649C>T c.(649-651)Cgt>Tgt p.R217C NM_153695.3 NP_710162.1 Q7RTV3 ZN367_HUMAN zinc finger protein 367 217 regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1) 12 Acute lymphoblastic leukemia(62;0.0167) GTGTGAAGACGCTGATGTGTT 0.388000 16 39 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181701953 181701953 + Missense_Mutation SNP C C T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr1:181701953C>T ENST00000526775.1 + 19 2839 c.2674C>T c.(2674-2676)Cgg>Tgg p.R892W CACNA1E_ENST00000367573.2_Missense_Mutation_p.R911W|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R843W|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R862W|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R518W|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R911W|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R892W NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 911 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CTTTGAGGACCGGGCCAGGCA 0.672000 11 106 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9091432 9091432 + Missense_Mutation SNP G G T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr19:9091432G>T ENST00000397910.4 - 1 586 c.383C>A c.(382-384)tCc>tAc p.S128Y NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 128 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTCCTTGGGGAACTCAATCC 0.502000 9 86 0.335167 0.335167 1 1 0 CD40LG 959 broad.mit.edu 37 X 135741436 135741436 + Missense_Mutation SNP A A C TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chrX:135741436A>C ENST00000370629.2 + 5 704 c.648A>C c.(646-648)aaA>aaC p.K216N CD40LG_ENST00000370628.2_Missense_Mutation_p.K195N NM_000074.2 NP_000065.1 P29965 CD40L_HUMAN CD40 ligand 216 anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production extracellular space|integral to plasma membrane|soluble fraction CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1) 26 Acute lymphoblastic leukemia(192;0.000127) Atorvastatin(DB01076) GTTCCGCCAAACCTTGCGGGC 0.493000 Immune Deficiency with Hyper-IgM 33 168 0 0 1 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2422072 2422072 + Missense_Mutation SNP C C T rs138523679 byFrequency TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr19:2422072C>T ENST00000332578.3 + 13 2273 c.2273C>T c.(2272-2274)aCg>aTg p.T758M NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 758 proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCCCCAGGACGACAGCTGGC 0.657000 9 76 0 0 1 0 0 SNX10 29887 broad.mit.edu 37 7 26404670 26404670 + Silent SNP A A G TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr7:26404670A>G ENST00000338523.4 + 5 403 c.216A>G c.(214-216)caA>caG p.Q72Q SNX10_ENST00000446848.2_Silent_p.Q98Q|SNX10_ENST00000396376.1_Silent_p.Q72Q|SNX10_ENST00000409838.1_5'UTR|SNX10_ENST00000409367.1_Silent_p.Q32Q NM_001199835.1|NM_013322.2 NP_001186764.1|NP_037454.2 Q9Y5X0 SNX10_HUMAN sorting nexin 10 72 PX. cell communication|endosome organization|protein transport extrinsic to endosome membrane 1-phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 6 TCCTAAGACAACTGCCAGAAC 0.393000 OREG0017908 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 49 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79051886 79051886 + Silent SNP G G A TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr15:79051886G>A ENST00000388820.4 - 24 5148 c.4938C>T c.(4936-4938)tgC>tgT p.C1646C NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1646 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.C1646C(4) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 GCAGCGTCTCGCAGAACCCGA 0.701000 5 24 0 0 1 0 0 MYO1B 4430 broad.mit.edu 37 2 192250758 192250758 + Missense_Mutation SNP A A G TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr2:192250758A>G ENST00000392318.3 + 16 1749 c.1502A>G c.(1501-1503)aAt>aGt p.N501S MYO1B_ENST00000339514.4_Missense_Mutation_p.N501S|MYO1B_ENST00000304164.4_Missense_Mutation_p.N501S|MYO1B_ENST00000392316.1_Missense_Mutation_p.N501S NM_001130158.1 NP_001123630.1 O43795 MYO1B_HUMAN myosin IB 501 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1) 55 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) CGGTTCCTCAATGACACGTCT 0.532000 22 254 0 0 1 0 0 MMAB 326625 broad.mit.edu 37 12 109998858 109998858 + Missense_Mutation SNP G G A TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr12:109998858G>A ENST00000545712.2 - 7 964 c.571C>T c.(571-573)Cgg>Tgg p.R191W MMAB_ENST00000266839.5_Missense_Mutation_p.R100W|MMAB_ENST00000540016.1_Missense_Mutation_p.R139W NM_052845.3 NP_443077.1 Q96EY8 MMAB_HUMAN methylmalonic aciduria (cobalamin deficiency) cblB type 191 R -> W (in MMAB). cobalamin biosynthetic process mitochondrion ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CTCTCGGCCCGGCGGCACACG 0.657000 8 48 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29219776 29219776 + Silent SNP C C T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr17:29219776C>T ENST00000321990.4 + 20 4788 c.4410C>T c.(4408-4410)tcC>tcT p.S1470S NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1470 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) ACATTTTTTCCCCATCTGAAG 0.328000 5 121 0 0 1 0 0 OR4K5 79317 broad.mit.edu 37 14 20389008 20389008 + Missense_Mutation SNP G G T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr14:20389008G>T ENST00000315915.4 + 1 268 c.243G>T c.(241-243)atG>atT p.M81I NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M81I(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCCCTAAAATGATTGCAGATT 0.438000 16 200 1.15088e-07 1.30034e-07 1 1 0 CDKN2A 1029 broad.mit.edu 37 9 21968242 21968242 + Splice_Site SNP C C T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr9:21968242C>T ENST00000579755.1 - 3 793 c.e3-1 CDKN2A_ENST00000498628.2_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000578845.2_Splice_Site P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(6)|p.0(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) TCGGGGATGTCTGCAGAGGGC 0.542000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 7 38 0 0 1 0 0 ZNF730 100129543 broad.mit.edu 37 19 23329013 23329013 + Silent SNP T T A TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr19:23329013T>A ENST00000597761.2 + 4 1366 c.1167T>A c.(1165-1167)atT>atA p.I389I NM_001277403.1 NP_001264332.1 zinc finger protein 730 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1) 16 ATAAGATAATTCATACTGTAG 0.338000 5 16 0 0 1 0 0 GRXCR2 643226 broad.mit.edu 37 5 145252448 145252448 + Silent SNP G G A rs141618183 byFrequency TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr5:145252448G>A ENST00000377976.1 - 1 83 c.84C>T c.(82-84)agC>agT p.S28S NM_001080516.1 NP_001073985.1 A6NFK2 GRCR2_HUMAN glutaredoxin, cysteine rich 2 28 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 ATACTCGACCGCTGTAGGAGG 0.468000 12 150 0 0 1 0 0 PGM5 5239 broad.mit.edu 37 9 71098912 71098912 + Missense_Mutation SNP C C T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr9:71098912C>T ENST00000396396.1 + 9 1656 c.1427C>T c.(1426-1428)aCg>aTg p.T476M NM_021965.3 NP_068800.2 Q15124 PGM5_HUMAN phosphoglucomutase 5 476 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 GTGGCGAAGACGGATAGTTTT 0.502000 12 111 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10435384 10435384 + Missense_Mutation SNP G G T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr1:10435384G>T ENST00000377086.1 + 48 5563 c.5361G>T c.(5359-5361)atG>atT p.M1787I KIF1B_ENST00000377081.1_Missense_Mutation_p.M1787I|KIF1B_ENST00000263934.6_Missense_Mutation_p.M1741I O60333 KIF1B_HUMAN kinesin family member 1B 1787 PH. anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) ACAAAGACATGAACGACTGGT 0.438000 8 99 2.17888e-05 2.34028e-05 1 1 0 BDKRB2 624 broad.mit.edu 37 14 96706870 96706870 + Missense_Mutation SNP G G A TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr14:96706870G>A ENST00000542454.2 + 3 3212 c.124G>A c.(124-126)Gtg>Atg p.V42M BDKRB2_ENST00000539359.1_Missense_Mutation_p.V42M|BDKRB2_ENST00000554311.1_Missense_Mutation_p.V69M|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000306005.3_Missense_Mutation_p.V69M P30411 BKRB2_HUMAN bradykinin receptor B2 69 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) GGTGCTGTTCGTGCTGGCCAC 0.612000 23 140 0 0 1 0 0 LRRC43 254050 broad.mit.edu 37 12 122677440 122677440 + Missense_Mutation SNP A A T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr12:122677440A>T ENST00000339777.4 + 7 1266 c.1238A>T c.(1237-1239)gAg>gTg p.E413V LRRC43_ENST00000425921.1_Missense_Mutation_p.E228V NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 413 Glu-rich. NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) GGAGAGTCGGAGCTGTCTGTC 0.567000 9 48 0 0 1 0 0 FZD1 8321 broad.mit.edu 37 7 90895444 90895444 + Missense_Mutation SNP T T G TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr7:90895444T>G ENST00000287934.2 + 1 1662 c.1249T>G c.(1249-1251)Tcc>Gcc p.S417A NM_003505.1 NP_003496.1 Q9UP38 FZD1_HUMAN frizzled family receptor 1 417 autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) CATGGCCAGCTCCATCTGGTG 0.602000 8 63 0 0 1 0 0 KIAA0556 23247 broad.mit.edu 37 16 27777718 27777718 + Missense_Mutation SNP C C T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr16:27777718C>T ENST00000261588.4 + 20 3917 c.3898C>T c.(3898-3900)Cgc>Tgc p.R1300C NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 1300 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 GGTCACGATCCGCCTGGACAG 0.582000 11 78 0 0 1 0 0 GRK7 131890 broad.mit.edu 37 3 141535597 141535597 + Missense_Mutation SNP C C T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr3:141535597C>T ENST00000264952.2 + 4 1504 c.1367C>T c.(1366-1368)aCg>aTg p.T456M NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 456 AGC-kinase C-terminal. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 TTCTTTAAAACGATCAACTTT 0.423000 12 136 0 0 1 0 0 ABL1 25 broad.mit.edu 37 9 133755972 133755972 + Missense_Mutation SNP G G T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr9:133755972G>T ENST00000318560.5 + 10 1980 c.1599G>T c.(1597-1599)agG>agT p.R533S NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 533 actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CCAAGACGAGGACCTCCAGGA 0.602000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 13 39 9.05144e-12 1.04997e-11 1 1 0 HAUS6 54801 broad.mit.edu 37 9 19102605 19102605 + Missense_Mutation SNP C C A TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr9:19102605C>A ENST00000380502.3 - 1 512 c.45G>T c.(43-45)tgG>tgT p.W15C NM_017645.3 NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 15 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GCAGATACATCCAGAGATGCT 0.637000 6 42 0.0293803 0.029722 1 1 0 GRIN2A 2903 broad.mit.edu 37 16 10032120 10032120 + Missense_Mutation SNP C C T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr16:10032120C>T ENST00000396573.2 - 4 1012 c.703G>A c.(703-705)Gag>Aag p.E235K GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E235K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E78K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E235K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E235K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E235K NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 235 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AGAACAGCCTCGTCTTTGGAA 0.507000 7 61 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72142383 72142383 + Missense_Mutation SNP G G C TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr15:72142383G>C ENST00000356056.5 - 38 7179 c.6707C>G c.(6706-6708)aCt>aGt p.T2236S MYO9A_ENST00000424560.1_Missense_Mutation_p.T2307S|MYO9A_ENST00000564571.1_Missense_Mutation_p.T2236S|MYO9A_ENST00000444904.1_Missense_Mutation_p.T2217S NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 2236 Rho-GAP.|Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TTACGTGGTAGTCTTACTGAT 0.468000 5 69 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123451756 123451756 + Silent SNP G G T TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr3:123451756G>T ENST00000360772.3 - 12 1881 c.1503C>A c.(1501-1503)acC>acA p.T501T MYLK_ENST00000475616.1_Silent_p.T501T|MYLK_ENST00000360304.3_Silent_p.T501T|MYLK_ENST00000359169.1_Silent_p.T501T|MYLK_ENST00000346322.5_Intron Q15746 MYLK_HUMAN myosin light chain kinase 501 Ig-like C2-type 3. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CCACTTGGAGGGTCCAGCTAC 0.567000 17 44 0.000958276 0.00101671 1 1 0 FOXC1 2296 broad.mit.edu 37 6 1611463 1611465 + In_Frame_Del DEL CAG CAG - TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr6:1611463_1611465delCAG ENST00000380874.2 + 1 783_785 c.783_785delCAG c.(781-786)gac>ga p.DS261del NM_001453.2 NP_001444.2 Q12948 FOXC1_HUMAN forkhead box C1 261 anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis nuclear heterochromatin|transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 8 Ovarian(93;0.0733) all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895) Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168) AGAGCCCCGACAGCAGCAGCAGC 0.793 2 4 --- --- --- --- TMEM120A 83862 broad.mit.edu 37 7 75616818 75616821 + RNA DEL GACA GACA - rs71741566 TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr7:75616818_75616821delGACA ENST00000493111.2 - 0 849 TMEM120A_ENST00000338761.4_RNA Q9BXJ8 T120A_HUMAN transmembrane protein 120A integral to membrane GCAGAGGACGGACAGACAGACAGG 0.574 6 6 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738793 102738794 + RNA INS - - T rs35342965 by1000genomes TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr11:102738793_102738794insT ENST00000532855.1 - 0 727_728 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGAGGAACAAGTGGTGCCTAAG 0.416 3 6 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74394379 74394380 + RNA INS - - A rs142790741 by1000genomes TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cee6020-356f-4c2e-85f1-63a1c0e8a8d2 b532630e-1958-4c87-b70b-a5ace90aa753 g.chr16:74394379_74394380insA ENST00000429810.2 - 0 435 TAGTCATCCTTAAACAAAATTC 0.347 4 2 --- --- --- ---