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 ANKMY2 57037 broad.mit.edu 37 7 16640446 16640446 + Silent SNP G G A TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr7:16640446G>A ENST00000306999.2 - 10 1509 c.1266C>T c.(1264-1266)agC>agT p.S422S NM_020319.2 NP_064715.1 Q8IV38 ANKY2_HUMAN ankyrin repeat and MYND domain containing 2 422 cilium zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 23 Lung NSC(10;0.103)|all_lung(11;0.204) UCEC - Uterine corpus endometrioid carcinoma (126;0.195) ACTCAGCTTCGCTTTCAAGAG 0.493000 4 50 0 0 1 0 0 ASCC2 84164 broad.mit.edu 37 22 30185114 30185114 + Missense_Mutation SNP C C T rs139016848 by1000genomes TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr22:30185114C>T ENST00000397771.2 - 21 2339 c.2162G>A c.(2161-2163)cGc>cAc p.R721H ASCC2_ENST00000307790.3_Missense_Mutation_p.R721H|ASCC2_ENST00000542393.1_Missense_Mutation_p.R645H Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 2 721 regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) GGTTGTCTCGCGGCTCTGCCC 0.627000 12 328 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369339.2_Silent_p.L113L|NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 3 41 0 0 1 0 0 CAMK1D 57118 broad.mit.edu 37 10 12595224 12595224 + Splice_Site SNP C C T TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr10:12595224C>T ENST00000378847.3 + 2 430 c.92_splice c.e2-1 p.T31_splice CAMK1D_ENST00000378845.1_Splice_Site_p.T31_splice|CAMK1D_ENST00000487696.1_Intron NM_153498.2 NP_705718.1 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 31 Protein kinase. calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) TTGTTCACAGCGGGGCCTTTT 0.463000 4 65 0 0 1 0 0 C7orf66 154907 broad.mit.edu 37 7 108524126 108524126 + Missense_Mutation SNP G G A rs143724624 TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr7:108524126G>A ENST00000379007.2 - 2 340 c.286C>T c.(286-288)Cgg>Tgg p.R96W NM_001024607.1 NP_001019778.1 A4D0T2 CG066_HUMAN chromosome 7 open reading frame 66 96 integral to membrane breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2) 15 TGGACAATCCGTAGATATGCA 0.348000 14 67 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15971376 15971376 + Nonsense_Mutation SNP G G A TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr17:15971376G>A ENST00000268712.3 - 32 4830 c.4573C>T c.(4573-4575)Cag>Tag p.Q1525* NCOR1_ENST00000395851.1_Nonsense_Mutation_p.Q1541*|NCOR1_ENST00000395857.3_Nonsense_Mutation_p.Q109* NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1525 Interaction with C1D (By similarity).|Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CTTTCCCTCTGGGTAGGGGTC 0.493000 6 19 0 0 1 0 0 IPPK 64768 broad.mit.edu 37 9 95418828 95418828 + Silent SNP C C T TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr9:95418828C>T ENST00000287996.3 - 3 411 c.135G>A c.(133-135)tcG>tcA p.S45S NM_022755.5 NP_073592.1 Q9H8X2 IPPK_HUMAN inositol 1,3,4,5,6-pentakisphosphate 2-kinase 45 inositol or phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol pentakisphosphate 2-kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1) 15 ATATCTCTTCCGAGGTCTGTA 0.493000 5 62 0 0 1 0 0 TRIM6 117854 broad.mit.edu 37 11 5632556 5632556 + Missense_Mutation SNP G G A TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr11:5632556G>A ENST00000380097.3 + 8 1777 c.1535G>A c.(1534-1536)cGt>cAt p.R512H HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Intron|TRIM6_ENST00000380107.1_Missense_Mutation_p.R458H|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000278302.5_Missense_Mutation_p.R484H|TRIM6_ENST00000481603.1_3'UTR|TRIM6_ENST00000506134.1_Missense_Mutation_p.R309H|TRIM6_ENST00000515022.1_Missense_Mutation_p.R309H|TRIM6_ENST00000445329.1_Missense_Mutation_p.R309H|TRIM6_ENST00000507320.1_Missense_Mutation_p.R309H NM_001003818.2|NM_001198644.1|NM_001198645.1 NP_001003818.1|NP_001185573.1|NP_001185574.1 tripartite motif containing 6 breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1) 22 Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212) Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192) ATGACCCTGCGTCGTCCAAGC 0.413000 8 97 0 0 1 0 0 ZNF79 7633 broad.mit.edu 37 9 130191138 130191138 + Missense_Mutation SNP C C T TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr9:130191138C>T ENST00000342483.5 + 2 450 c.44C>T c.(43-45)cCc>cTc p.P15L ZNF79_ENST00000543471.1_5'UTR NM_007135.2 NP_009066.2 Q15937 ZNF79_HUMAN zinc finger protein 79 15 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2) 28 CCTGCCCTTCCCCAAGAGGAA 0.478000 5 17 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1645355 1645355 + Missense_Mutation SNP G G A TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr8:1645355G>A ENST00000421627.2 + 11 2733 c.2599G>A c.(2599-2601)Ggc>Agc p.G867S NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 946 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GGACCTGGCCGGCTACTGGGA 0.647000 3 31 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266112 41266112 + Missense_Mutation SNP T T G rs121913416 TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr3:41266112T>G ENST00000349496.5 + 3 389 c.109T>G c.(109-111)Tct>Gct p.S37A CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37A NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 37 S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> C (in PTR, hepatoblastoma and ovarian cancer).|S -> F (in PTR).|S -> Y (in hepatocellular carcinoma).|SG -> W (in hepatocellular carcinoma). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.S37A(62)|p.A5_A80del(53)|p.S37P(21)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.I35_S37>T(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.S37T(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) TGGAATCCATTCTGGTGCCAC 0.498000 S37P(HEC108_ENDOMETRIUM)|S37P(SNGM_ENDOMETRIUM) 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 5 46 0 0 1 0 0 HTR2A 3356 broad.mit.edu 37 13 47469888 47469888 + Nonsense_Mutation SNP G G A TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr13:47469888G>A ENST00000378688.4 - 1 285 c.154C>T c.(154-156)Cga>Tga p.R52* HTR2A_ENST00000543956.1_Intron|HTR2A_ENST00000542664.1_Nonsense_Mutation_p.R52* P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 52 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) AGGTTGGTTCGATTTTCAGAG 0.443000 4 40 0 0 1 0 0 OTOP2 92736 broad.mit.edu 37 17 72926528 72926528 + Silent SNP T T C TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr17:72926528T>C ENST00000331427.4 + 6 890 c.798T>C c.(796-798)ggT>ggC p.G266G OTOP2_ENST00000580223.1_Silent_p.G266G NM_178160.2 NP_835454.1 Q7RTS6 OTOP2_HUMAN otopetrin 2 266 integral to membrane breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) AGAATGTGGGTAGATTCCTGG 0.572000 76 169 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63200388 63200388 + Missense_Mutation SNP C C T TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr17:63200388C>T ENST00000449996.3 + 15 1235 c.1163C>T c.(1162-1164)gCa>gTa p.A388V RGS9_ENST00000262406.9_Missense_Mutation_p.A391V|RGS9_ENST00000443584.3_Missense_Mutation_p.A388V NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 391 RGS. intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 CTGGACGCCGCACAAACCCAC 0.557000 4 44 0 0 1 0 0 KANSL1 284058 broad.mit.edu 37 17 44145009 44145009 + Nonsense_Mutation SNP C C A TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr17:44145009C>A ENST00000262419.6 - 5 2028 c.1558G>T c.(1558-1560)Gaa>Taa p.E520* KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.E520* NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 520 MLL1 complex protein binding CCATGGTTTTCCAATGGCTGA 0.413000 4 36 1 1 1 1 0 WDR37 22884 broad.mit.edu 37 10 1142152 1142152 + Missense_Mutation SNP A A G TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr10:1142152A>G ENST00000358220.1 + 9 836 c.692A>G c.(691-693)cAg>cGg p.Q231R WDR37_ENST00000263150.4_Missense_Mutation_p.Q231R|WDR37_ENST00000381329.1_Missense_Mutation_p.Q231R Q9Y2I8 WDR37_HUMAN WD repeat domain 37 231 breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1) 17 all_epithelial(10;0.0449)|Colorectal(49;0.142) Epithelial(11;0.134) TACGCGGTGCAGCTGCCGACA 0.488000 8 66 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12331156 12331156 + Missense_Mutation SNP A A G TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr1:12331156A>G ENST00000358136.3 + 17 2208 c.2078A>G c.(2077-2079)gAt>gGt p.D693G VPS13D_ENST00000356315.4_Missense_Mutation_p.D693G NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 693 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CAAACTCTTGATCGTTTGCTA 0.468000 27 53 0 0 1 0 0 RDH8 50700 broad.mit.edu 37 19 10131942 10131942 + Missense_Mutation SNP T T C TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr19:10131942T>C ENST00000591589.1 + 5 797 c.608T>C c.(607-609)gTg>gCg p.V203A RDH8_ENST00000171214.1_Missense_Mutation_p.V183A Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 183 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) ATCTCCCTGGTGGAGCCAGGC 0.532000 4 50 0 0 1 0 0 HYAL3 8372 broad.mit.edu 37 3 50332378 50332378 + Missense_Mutation SNP C C T rs142315421 byFrequency TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr3:50332378C>T ENST00000336307.1 - 2 928 c.656G>A c.(655-657)cGc>cAc p.R219H HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000450982.1_Missense_Mutation_p.R219H|HYAL3_ENST00000359051.3_Missense_Mutation_p.R219H NM_001200029.1|NM_003549.3 NP_001186958.1|NP_003540.2 O43820 HYAL3_HUMAN hyaluronoglucosaminidase 3 219 carbohydrate metabolic process extracellular region|lysosome hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TGCATGGCAGCGGCCGGTATA 0.632000 19 63 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33928661 33928661 + Missense_Mutation SNP G G T TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr15:33928661G>T ENST00000389232.4 + 27 3536 c.3466G>T c.(3466-3468)Gat>Tat p.D1156Y RYR3_ENST00000415757.3_Missense_Mutation_p.D1156Y NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1156 4 X approximate repeats.|B30.2/SPRY 2. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TAACCTGGATGATGCTTCAAT 0.483000 4 145 1 1 1 1 0 SLC2A7 155184 broad.mit.edu 37 1 9085108 9085108 + Missense_Mutation SNP G G A TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr1:9085108G>A ENST00000400906.1 - 2 76 c.77C>T c.(76-78)gCg>gTg p.A26V NM_207420.2 NP_997303.2 Q6PXP3 GTR7_HUMAN solute carrier family 2 (facilitated glucose transporter), member 7 26 integral to membrane|plasma membrane sugar transmembrane transporter activity NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2) 24 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) GCTCAGTGTCGCCAGCAACAG 0.647000 3 36 0 0 1 0 0 NEDD9 4739 broad.mit.edu 37 6 11191315 11191315 + Missense_Mutation SNP T T C TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr6:11191315T>C ENST00000379446.5 - 5 953 c.787A>G c.(787-789)Att>Gtt p.I263V NEDD9_ENST00000504387.1_Missense_Mutation_p.I263V|RP3-510L9.1_ENST00000500636.2_RNA NM_001271033.1|NM_006403.3 NP_001257962.1|NP_006394.1 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally down-regulated 9 263 actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) GTTGGAGGAATGTCATAAACC 0.552000 3 76 0 0 1 0 0 RASSF7 8045 broad.mit.edu 37 11 562264 562264 + Missense_Mutation SNP G G A TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr11:562264G>A ENST00000397583.3 + 3 743 c.310G>A c.(310-312)Gaa>Aaa p.E104K RASSF7_ENST00000344375.4_Missense_Mutation_p.E104K|RASSF7_ENST00000454668.2_Missense_Mutation_p.E104K|RASSF7_ENST00000431809.1_Missense_Mutation_p.E104K|RASSF7_ENST00000524468.1_3'UTR|RASSF7_ENST00000397582.3_Missense_Mutation_p.E104K NM_003475.3 NP_003466.1 Q02833 RASF7_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 7 104 regulation of transcription, DNA-dependent|signal transduction nucleus DNA binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3) 8 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) TCCACCCCCGGAACGCTGCCT 0.667000 5 49 0 0 1 0 0 ITGA2B 3674 broad.mit.edu 37 17 42458366 42458366 + Missense_Mutation SNP C C A TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr17:42458366C>A ENST00000262407.5 - 13 1305 c.1274G>T c.(1273-1275)gGt>gTt p.G425V ITGA2B_ENST00000353281.4_Missense_Mutation_p.G425V|ITGA2B_ENST00000377068.3_Missense_Mutation_p.G110V NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 425 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) CTCACTCTGACCCAGGAACAC 0.612000 15 32 1.00905e-13 1.05109e-13 1 1 0 TIFAB 497189 broad.mit.edu 37 5 134785319 134785319 + Missense_Mutation SNP C C T TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr5:134785319C>T ENST00000537858.1 - 2 511 c.311G>A c.(310-312)aGg>aAg p.R104K NM_001099221.1 NP_001092691.1 Q6ZNK6 TIFAB_HUMAN TRAF-interacting protein with forkhead-associated domain, family member B 104 breast(1)|endometrium(1)|liver(1)|lung(5) 8 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GAAGGAGACCCTGTTGACGGT 0.587000 12 114 0 0 1 0 0 IRX6 79190 broad.mit.edu 37 16 55363026 55363026 + Missense_Mutation SNP G G A TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr16:55363026G>A ENST00000290552.7 + 5 2468 c.1136G>A c.(1135-1137)cGt>cAt p.R379H RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 379 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CCTGAGTGCCGTATGATTCCT 0.627000 4 63 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47754527 47754527 + Missense_Mutation SNP A A G TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr21:47754527A>G ENST00000359568.5 + 3 591 c.484A>G c.(484-486)Agt>Ggt p.S162G PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 162 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GTTCACAGTCAGTGACCACCC 0.552000 5 108 0 0 1 0 0 PRKACA 5566 broad.mit.edu 37 19 14208444 14208444 + Missense_Mutation SNP A A C TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr19:14208444A>C ENST00000308677.4 - 7 785 c.589T>G c.(589-591)Tgg>Ggg p.W197G PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Missense_Mutation_p.W189G NM_002730.3 NP_002721.1 P17612 KAPCA_HUMAN protein kinase, cAMP-dependent, catalytic, alpha 197 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 16 CACAAGGTCCAAGTGCGGCCC 0.642000 7 39 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16952952 16952952 + RNA SNP G G A rs1762946 by1000genomes TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr1:16952952G>A ENST00000412962.1 - 0 664 TCTGCCCTCAGCTTGGTCACG 0.622000 4 53 0 0 1 0 0 SYCP2 10388 broad.mit.edu 37 20 58470533 58470533 + Missense_Mutation SNP T T C TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr20:58470533T>C ENST00000357552.3 - 20 1849 c.1624A>G c.(1624-1626)Aga>Gga p.R542G SYCP2_ENST00000371001.2_Missense_Mutation_p.R542G Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 542 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) TCTGATGATCTAGATTTCAGT 0.318000 16 46 0 0 1 0 0 ATP6V1C2 245973 broad.mit.edu 37 2 10917833 10917833 + Missense_Mutation SNP T T A TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr2:10917833T>A ENST00000272238.4 + 11 1057 c.948T>A c.(946-948)agT>agA p.S316R ATP6V1C2_ENST00000381661.3_Intron NM_001039362.1 NP_001034451.1 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 316 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain p.S316fs*14(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) AGAGAGAGAGTGAGGGCGAGG 0.602000 4 78 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr16:90161902A>G ENST00000567960.1 + 0 638 TUBB8P7_ENST00000564451.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 2 4 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97822326 97822326 + Missense_Mutation SNP C C T TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr7:97822326C>T ENST00000297293.5 + 11 2842 c.2549C>T c.(2548-2550)cCg>cTg p.P850L NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 850 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P850L(4) NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) GTTATTGTCCCGGAGGACTGT 0.552000 8 82 0 0 1 0 0 STON1 11037 broad.mit.edu 37 2 48809003 48809003 + Missense_Mutation SNP G G A TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr2:48809003G>A ENST00000309835.3 + 1 1241 c.1231G>A c.(1231-1233)Gag>Aag p.E411K STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E411K|STON1_ENST00000406226.1_Missense_Mutation_p.E411K|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E411K|STON1_ENST00000404752.1_Missense_Mutation_p.E411K|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E411K|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E411K|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E411K stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AAAGAACTACGAGGAGCAAGA 0.403000 6 49 0 0 1 0 0 F3 2152 broad.mit.edu 37 1 94996023 94996023 + Missense_Mutation SNP A A G TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr1:94996023A>G ENST00000334047.7 - 6 1044 c.881T>C c.(880-882)gTt>gCt p.V294A F3_ENST00000370207.4_3'UTR NM_001993.4 NP_001984.1 P13726 TF_HUMAN coagulation factor III (thromboplastin, tissue factor) 294 activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade extracellular matrix|extracellular space|integral to membrane cell surface binding|phospholipid binding|protease binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7) 14 all_lung(203;0.00106)|Lung NSC(277;0.00475) all cancers(265;0.0232)|Epithelial(280;0.121) Coagulation factor VIIa(DB00036) CCTTTATGAAACATTCAGTGG 0.433000 3 85 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41529904 41529904 + Silent SNP G G A TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr8:41529904G>A ENST00000396942.1 - 38 5147 c.5064C>T c.(5062-5064)acC>acT p.T1688T ANK1_ENST00000396945.1_Silent_p.T1688T|ANK1_ENST00000347528.4_Silent_p.T1688T|ANK1_ENST00000379758.2_Silent_p.T1688T|ANK1_ENST00000265709.8_Silent_p.T1729T|ANK1_ENST00000352337.4_Silent_p.T1688T|ANK1_ENST00000289734.7_Silent_p.T1688T P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1688 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CCTGACTCACGGTGGGGGAAT 0.567000 3 52 0 0 1 0 0 MEPCE 56257 broad.mit.edu 37 7 100031160 100031160 + Nonsense_Mutation SNP C C T TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr7:100031160C>T ENST00000310512.2 + 4 2441 c.2053C>T c.(2053-2055)Cga>Tga p.R685* MEPCE_ENST00000414441.1_Nonsense_Mutation_p.R216* NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 685 Bin3-type SAM. methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCACAAGGCCCGATCCCCCAG 0.582000 4 52 0 0 1 0 0 RBM41 55285 broad.mit.edu 37 X 106312568 106312568 + Missense_Mutation SNP C C T TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chrX:106312568C>T ENST00000372487.1 - 6 1018 c.992G>A c.(991-993)cGg>cAg p.R331Q RBM41_ENST00000372479.3_Missense_Mutation_p.R331Q NM_001171080.1 NP_001164551.1 Q96IZ5 RBM41_HUMAN RNA binding motif protein 41 331 RRM. nucleotide binding|RNA binding p.R331Q(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 13 CTCCTGGAACCGAGCGAACAA 0.418000 48 13 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7806622 7806622 + Silent SNP C C T TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr17:7806622C>T ENST00000380358.4 + 23 3706 c.3705C>T c.(3703-3705)gcC>gcT p.A1235A CHD3_ENST00000358181.4_Silent_p.A1176A|CHD3_ENST00000330494.7_Silent_p.A1176A NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1176 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) TTGGCCAGGCCAACAAAGTGA 0.577000 6 62 0 0 1 0 0 LRRTM1 347730 broad.mit.edu 37 2 80529775 80529775 + Silent SNP C C T TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr2:80529775C>T ENST00000295057.3 - 2 1826 c.1170G>A c.(1168-1170)tcG>tcA p.S390S CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.S390S|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 390 axon|endoplasmic reticulum membrane|growth cone|integral to membrane p.S390S(2) NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 GCGTGGTGGCCGAGCTGGCAG 0.721000 HNSCC(69;0.2) 3 27 0 0 1 0 0 ANKLE1 126549 broad.mit.edu 37 19 17397230 17397230 + Missense_Mutation SNP G G A TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr19:17397230G>A ENST00000394458.3 + 9 1993 c.1717G>A c.(1717-1719)Gga>Aga p.G573R ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000404085.1_Missense_Mutation_p.G569R|ANKLE1_ENST00000594072.1_Missense_Mutation_p.G536R|ANKLE1_ENST00000598347.1_Missense_Mutation_p.M500I NM_152363.4 NP_689576.4 Q8NAG6 ANKL1_HUMAN ankyrin repeat and LEM domain containing 1 573 nuclear envelope large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 7 GCACTGCTATGGAGTGGTGGC 0.642000 3 52 0 0 1 0 0 SLC16A6 9120 broad.mit.edu 37 17 66267073 66267073 + Missense_Mutation SNP C C T TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr17:66267073C>T ENST00000327268.4 - 6 1392 c.1228G>A c.(1228-1230)Gat>Aat p.D410N ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.D410N NM_001174166.1 NP_001167637.1 O15403 MOT7_HUMAN solute carrier family 16, member 6 410 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2) 15 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) ACGACATCATCCTCAGCAAGC 0.468000 8 97 0 0 1 0 0 AMHR2 269 broad.mit.edu 37 12 53819285 53819285 + Silent SNP A A G TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr12:53819285A>G ENST00000257863.4 + 5 629 c.549A>G c.(547-549)ccA>ccG p.P183P AMHR2_ENST00000550311.1_Silent_p.P183P|AMHR2_ENST00000379791.3_Silent_p.P183P NM_001164690.1|NM_020547.2 NP_001158162.1|NP_065434.1 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II 183 Mullerian duct regression ATP binding|hormone binding|metal ion binding breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) AGCCAGTGCCAGAGCCAAGGC 0.592000 3 80 0 0 1 0 0 C15orf38 348110 broad.mit.edu 37 15 90447061 90447061 + Silent SNP G G A TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr15:90447061G>A ENST00000357484.5 - 4 576 c.456C>T c.(454-456)ctC>ctT p.L152L C15orf38-AP3S2_ENST00000398333.3_Silent_p.L152L|C15orf38_ENST00000460685.1_Silent_p.L56L NM_182616.2 NP_872422.1 chromosome 15 open reading frame 38 breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1) 10 Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223) CCCCCAGCTCGAGTTCCATCA 0.627000 40 73 0 0 1 0 0 SSTR1 0 broad.mit.edu 37 14 38679035 38679035 + Nonsense_Mutation SNP T T A TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr14:38679035T>A ENST00000267377.2 + 3 1058 c.441T>A c.(439-441)tgT>tgA p.C147* NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 147 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) GCATCTACTGTCTGACTGTGC 0.647000 6 160 0 0 1 0 0 TRIM33 51592 broad.mit.edu 37 1 114968116 114968118 + In_Frame_Del DEL TGT TGT - TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr1:114968116_114968118delTGT ENST00000358465.2 - 9 1731_1733 c.1648_1650delACA c.(1648-1650)del p.T550del TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del|TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 550 Poly-Thr. negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GATGCTGTTGTGTTGTTGTTGTT 0.429 T RET papillary thyroid 7 362 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147560457 147560458 + In_Frame_Ins INS - - GGC rs67907220 TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr4:147560457_147560458insGGC ENST00000281321.3 + 1 413_414 c.165_166insGGC c.(163-168)gggcgg>ggGGCgcgg p.55_56GR>GAR AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 55 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) ACGCTggtggtggcggcggcgg 0.762 8 7 --- --- --- --- LMOD2 442721 broad.mit.edu 37 7 123301995 123301997 + In_Frame_Del DEL GAG GAG - TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr7:123301995_123301997delGAG ENST00000458573.2 + 2 512_514 c.355_357delGAG c.(355-357)del p.E124del LMOD2_ENST00000456238.2_Intron NM_207163.1 NP_997046.1 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 124 Glu-rich. cytoskeleton actin binding|tropomyosin binding AGTGTATACAgaggaggaggagg 0.409 2 4 --- --- --- --- MCPH1 79648 broad.mit.edu 37 8 6289099 6289099 + Frame_Shift_Del DEL A A - TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr8:6289099delA ENST00000344683.5 + 4 389 c.313delA c.(313-315)aafs p.K107fs MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 107 microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) AAGCCTAATTAAAAAAAAAGT 0.274 8 72 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89720833 89720833 + Frame_Shift_Del DEL A A - TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr10:89720833delA ENST00000371953.3 + 8 2341 c.984delA c.(982-984)gcfs p.A328fs PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 328 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.A328fs*15(1)|p.W274_F341del(1)|p.A328fs*1(1)|p.D326_K342del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TTGACAAAGCAAATAAAGACA 0.328 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 21 74 --- --- --- --- HBG2 3048 broad.mit.edu 37 11 5275612 5275612 + Frame_Shift_Del DEL G G - TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr11:5275612delG ENST00000380259.2 - 7 1465 c.225delC c.(223-225)gcfs p.A75fs HBG2_ENST00000336906.4_Frame_Shift_Del_p.A75fs|HBG2_ENST00000380252.1_Frame_Shift_Del_p.A65fs hemoglobin, gamma G endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 13 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTGCTTTATGGCATCTCCCA 0.527 11 217 --- --- --- --- RP3-514A23.2 0 broad.mit.edu 37 14 73041025 73041025 + RNA DEL C C - TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr14:73041025delC ENST00000555303.1 - 0 451 CTGTGACTTTCCCCAGTCCCT 0.562 2 4 --- --- --- --- ZNF579 163033 broad.mit.edu 37 19 56089908 56089909 + In_Frame_Ins INS - - CCG rs141478862 by1000genomes TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chr19:56089908_56089909insCCG ENST00000325421.4 - 2 1125_1126 c.1097_1098insCGG c.(1096-1098)gca>gCGGca p.366_366A>AA NM_152600.2 NP_689813.2 Q8NAF0 ZN579_HUMAN zinc finger protein 579 366 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G366_Q367insG(1) endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.106) CTCCGTTCTGCCCTTCTCCCCC 0.748 4 2 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44966780 44966783 + Splice_Site DEL AAGT AAGT - TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chrX:44966780_44966783delAAGT ENST00000377967.4 + 27 4045_4046 c.4005_splice c.e27+1 p.1335_splice KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000536777.1_Splice_Site_p.1290_splice|KDM6A_ENST00000382899.4_Splice_Site_p.1342_splice|KDM6A_ENST00000543216.1_Splice_Site_p.1256_splice NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1335 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 AGCATTTGTGAAGTAAGTAATTGT 0.348 """D, N, F, S""" """renal, oesophageal SCC, MM""" 12 42 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149937526 149937528 + In_Frame_Del DEL GGC GGC - rs7877654 byFrequency TCGA-HC-7212-01A-11D-2114-08 TCGA-HC-7212-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41815e8f-0332-4826-90c9-ee944f3887a0 4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c g.chrX:149937526_149937528delGGC ENST00000370377.3 - 11 885_887 c.768_770delGCC c.(766-771)ccc>cc p.PP256del CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000346693.4_5'UTR NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 256 Poly-Pro. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGCTGGTTCGGGCGGCGGCGGCG 0.611 7 110 --- --- --- ---