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 FRG1B 0 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 4 79 0 0 1 0 0 PI3 5266 broad.mit.edu 37 20 43804750 43804750 + Missense_Mutation SNP G G A TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr20:43804750G>A ENST00000243924.3 + 2 375 c.328G>A c.(328-330)Ggg>Agg p.G110R NM_002638.3 NP_002629.1 P19957 ELAF_HUMAN peptidase inhibitor 3, skin-derived 110 WAP. copulation proteinaceous extracellular matrix serine-type endopeptidase inhibitor activity p.G110W(1) large_intestine(1)|lung(5)|skin(1) 7 Myeloproliferative disorder(115;0.0122) AGGCTCTTGCGGGATGGCCTG 0.552000 4 52 0 0 1 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44799776 44799776 + Silent SNP C C T TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr7:44799776C>T ENST00000309315.4 + 8 1143 c.1020C>T c.(1018-1020)ggC>ggT p.G340G ZMIZ2_ENST00000441627.1_Silent_p.G340G|ZMIZ2_ENST00000433667.1_Silent_p.G308G|ZMIZ2_ENST00000413916.1_Intron|ZMIZ2_ENST00000265346.7_Intron NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 340 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 ACGGGCAGGGCGCCAGCTTCA 0.687000 4 28 0 0 1 0 0 SEMA4F 10505 broad.mit.edu 37 2 74889931 74889931 + Missense_Mutation SNP C C T TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr2:74889931C>T ENST00000357877.2 + 5 678 c.529C>T c.(529-531)Cgg>Tgg p.R177W SEMA4F_ENST00000339773.5_Intron NM_004263.3 NP_004254.2 O95754 SEM4F_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F 177 Sema. cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 GCCAGCTCAGCGGTCAGCAGC 0.507000 26 87 0 0 1 0 0 PSG11 5680 broad.mit.edu 37 19 43529017 43529017 + Missense_Mutation SNP C C T TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr19:43529017C>T ENST00000401740.1 - 2 359 c.256G>A c.(256-258)Ggt>Agt p.G86S PSG11_ENST00000306322.7_Intron|PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.G86S Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 86 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) ATTATTTGACCGTCTACTACA 0.448000 11 202 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81891938 81891938 + Silent SNP G G A TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr16:81891938G>A ENST00000359376.3 + 4 622 c.408G>A c.(406-408)gcG>gcA p.A136A PLCG2_ENST00000565400.1_3'UTR NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 136 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 CGATGAATGCGTCCACGCCCA 0.478000 13 72 0 0 1 0 0 DRD5 0 broad.mit.edu 37 4 9784459 9784459 + Missense_Mutation SNP C C T rs2227842 by1000genomes TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr4:9784459C>T ENST00000304374.2 + 1 1202 c.806C>T c.(805-807)gCg>gTg p.A269V NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 269 A -> V (in dbSNP:rs2227842). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GCAGAGCACGCGCAGAGCTGC 0.632000 4 26 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578400 7578400 + Missense_Mutation SNP G G C TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr17:7578400G>C ENST00000420246.2 - 5 662 c.530C>G c.(529-531)cCc>cGc p.P177R TP53_ENST00000445888.2_Missense_Mutation_p.P177R|TP53_ENST00000269305.4_Missense_Mutation_p.P177R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.P177R|TP53_ENST00000455263.2_Missense_Mutation_p.P177R|TP53_ENST00000413465.2_Missense_Mutation_p.P177R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 177 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P177R(18)|p.P177L(17)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.E171fs*61(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) CTCATGGTGGGGGCAGCGCCT 0.647000 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) 16 41 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46806424 46806424 + Missense_Mutation SNP C C T TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr22:46806424C>T ENST00000262738.3 - 7 4803 c.4804G>A c.(4804-4806)Ggt>Agt p.G1602S NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1602 Laminin G-like 1. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TTGGGGACACCCCCCAGGAGT 0.642000 3 50 0 0 1 0 0 IGKV1-9 0 broad.mit.edu 37 2 89309619 89309619 + RNA SNP A A G TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr2:89309619A>G ENST00000493819.1 - 0 268 GATGCAGCATAGATCAGGAGC 0.522000 40 138 0 0 1 0 0 ITGA7 3679 broad.mit.edu 37 12 56088563 56088563 + Splice_Site SNP G G A TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr12:56088563G>A ENST00000257880.7 - 16 2546 c.2328_splice c.e16+1 p.A776_splice ITGA7_ENST00000553804.1_Splice_Site_p.A736_splice|ITGA7_ENST00000394229.2_Splice_Site_p.A732_splice|ITGA7_ENST00000394230.2_Splice_Site_p.A736_splice|ITGA7_ENST00000452168.2_Splice_Site_p.A639_splice|ITGA7_ENST00000555728.1_Splice_Site_p.A776_splice|ITGA7_ENST00000347027.6_Splice_Site_p.A726_splice|ITGA7_ENST00000257879.6_Splice_Site_p.A732_splice Q13683 ITA7_HUMAN integrin, alpha 7 776 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity p.A732V(1)|p.A736V(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 GGTCCTCACCGCAGGGTCCAG 0.637000 7 52 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20119208 20119208 + Missense_Mutation SNP G G A TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr11:20119208G>A ENST00000396085.1 + 32 6468 c.6107G>A c.(6106-6108)cGc>cAc p.R2036H NAV2_ENST00000360655.4_Missense_Mutation_p.R1969H|NAV2_ENST00000349880.4_Missense_Mutation_p.R2033H|NAV2_ENST00000311043.8_Missense_Mutation_p.R1097H|NAV2_ENST00000533917.1_Missense_Mutation_p.R1097H|NAV2_ENST00000527559.2_Missense_Mutation_p.R2021H|NAV2_ENST00000396087.3_Missense_Mutation_p.R2092H|NAV2_ENST00000540292.1_Missense_Mutation_p.R2023H NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 2092 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 GAAATCAAGCGCAGCAACACT 0.468000 13 75 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 8 43 0 0 1 0 0 TARS 6897 broad.mit.edu 37 5 33459873 33459873 + Missense_Mutation SNP C C T TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr5:33459873C>T ENST00000265112.3 + 11 1468 c.1157C>T c.(1156-1158)tCg>tTg p.S386L TARS_ENST00000541634.1_Missense_Mutation_p.S282L|TARS_ENST00000414361.2_Missense_Mutation_p.S265L|TARS_ENST00000502553.1_Missense_Mutation_p.S386L|TARS_ENST00000455217.2_Missense_Mutation_p.S419L NM_152295.4 NP_689508.3 P26639 SYTC_HUMAN threonyl-tRNA synthetase 386 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1) 29 L-Threonine(DB00156) TGGATGACCTCGGGCCACTGG 0.493000 12 65 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57963897 57963897 + Silent SNP G G A TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr12:57963897G>A ENST00000455537.2 + 12 1519 c.1245G>A c.(1243-1245)caG>caA p.Q415Q KIF5A_ENST00000286452.5_Silent_p.Q326Q NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 415 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 AGGAGCGGCAGAAATACGAGG 0.632000 6 24 0 0 1 0 0 PROKR2 128674 broad.mit.edu 37 20 5294673 5294673 + Missense_Mutation SNP C C T rs138672528 by1000genomes TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr20:5294673C>T ENST00000546004.1 - 2 589 c.343G>A c.(343-345)Gtg>Atg p.V115M PROKR2_ENST00000217270.3_Missense_Mutation_p.V115M Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 115 integral to membrane|plasma membrane neuropeptide Y receptor activity p.V115M(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 TGCCGTACCACGTAGTAGTCC 0.587000 HNSCC(71;0.22) 13 37 0 0 1 0 0 OR10W1 81341 broad.mit.edu 37 11 58034735 58034735 + Missense_Mutation SNP G G T TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr11:58034735G>T ENST00000395079.2 - 1 997 c.596C>A c.(595-597)gCt>gAt p.A199D NM_207374.3 NP_997257.2 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, member 1 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1) 26 Breast(21;0.0589) GAAAGGCACAGCAATGGCTAG 0.547000 3 28 0.115264 0.117286 1 1 0 ZNF99 7652 broad.mit.edu 37 19 22941154 22941154 + Missense_Mutation SNP C C G TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr19:22941154C>G ENST00000397104.3 - 5 1283 c.1284G>C c.(1282-1284)aaG>aaC p.K428N ZNF99_ENST00000596209.1_Missense_Mutation_p.K519N zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CTGAGAAATGCTTAAAAGCTT 0.353000 4 62 0 0 1 0 0 CAPN15 6650 broad.mit.edu 37 16 603374 603374 + Missense_Mutation SNP A A G TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr16:603374A>G ENST00000219611.2 + 14 3482 c.3119A>G c.(3118-3120)aAc>aGc p.N1040S LA16c-366D1.3_ENST00000565879.1_RNA NM_005632.2 NP_005623.1 calpain 15 CTAGAGGGCAACGCCGGCTTC 0.677000 21 41 0 0 1 0 0 C7orf31 136895 broad.mit.edu 37 7 25182283 25182283 + Missense_Mutation SNP T T C TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr7:25182283T>C ENST00000409280.1 - 8 1143 c.835A>G c.(835-837)Act>Gct p.T279A C7orf31_ENST00000283905.3_Missense_Mutation_p.T279A Q8N865 CG031_HUMAN chromosome 7 open reading frame 31 279 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 14 GTGTACGAAGTGAGCCAGTGG 0.358000 12 53 0 0 1 0 0 PITRM1 10531 broad.mit.edu 37 10 3185630 3185630 + Missense_Mutation SNP C C T TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr10:3185630C>T ENST00000380989.2 - 23 2637 c.2599G>A c.(2599-2601)Gtg>Atg p.V867M PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.V768M|PITRM1_ENST00000224949.4_Missense_Mutation_p.V866M|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380994.1_Missense_Mutation_p.V424M NM_001242307.1|NM_014889.3 NP_001229236.1|NP_055704.2 E7ES23 E7ES23_HUMAN pitrilysin metallopeptidase 1 768 proteolysis metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3) 33 CATTCACCCACGTAATTCACC 0.587000 15 45 0 0 1 0 0 TMEM260 54916 broad.mit.edu 37 14 57075905 57075905 + Missense_Mutation SNP T T C TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr14:57075905T>C ENST00000261556.6 + 6 840 c.718T>C c.(718-720)Tct>Cct p.S240P TMEM260_ENST00000538838.1_Missense_Mutation_p.S240P|TMEM260_ENST00000536419.1_5'UTR NM_017799.3 NP_060269.3 transmembrane protein 260 TCCCATCTCATCTTACCTTAA 0.502000 37 151 0 0 1 0 0 ASAP1 50807 broad.mit.edu 37 8 131130463 131130463 + Silent SNP G G A TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr8:131130463G>A ENST00000357668.1 - 19 1851 c.1824C>T c.(1822-1824)gcC>gcT p.A608A ASAP1_ENST00000518721.1_Silent_p.A608A Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 608 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 CAGTTCGGACGGCAAGGTGAA 0.408000 4 18 0 0 1 0 0 KIAA1211L 343990 broad.mit.edu 37 2 99448880 99448880 + Silent SNP G G A TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr2:99448880G>A ENST00000397899.2 - 5 802 c.471C>T c.(469-471)gaC>gaT p.D157D KIAA1211L_ENST00000462314.1_5'UTR NM_207362.2 NP_997245.2 KIAA1211-like p.D157D(2) GCAGCCCGTCGTCCTCAGAGC 0.587000 12 39 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70349256 70349256 + Missense_Mutation SNP T T G TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chrX:70349256T>G ENST00000333646.6 + 26 3867 c.3668T>G c.(3667-3669)gTt>gGt p.V1223G MED12_ENST00000374080.3_Missense_Mutation_p.V1223G|MED12_ENST00000374102.1_Missense_Mutation_p.V1223G NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1223 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) GTGTTTGCTGTTCTCAAGGCT 0.567000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome OREG0019857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 9 0 0 1 0 0 POLR2B 5431 broad.mit.edu 37 4 57889904 57889904 + Missense_Mutation SNP A A G TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr4:57889904A>G ENST00000381227.1 + 21 3256 c.2843A>G c.(2842-2844)cAg>cGg p.Q948R POLR2B_ENST00000314595.5_Missense_Mutation_p.Q948R|POLR2B_ENST00000441246.2_Missense_Mutation_p.Q941R|POLR2B_ENST00000431623.2_Missense_Mutation_p.Q873R P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 948 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) TGTGGTATTCAGTATAGACAA 0.333000 14 42 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201777624 201777624 + Silent SNP G G A TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr1:201777624G>A ENST00000367296.4 + 19 4344 c.3924G>A c.(3922-3924)tcG>tcA p.S1308S NAV1_ENST00000367297.4_Silent_p.S1300S|NAV1_ENST00000367295.1_Silent_p.S914S|NAV1_ENST00000295624.6_Silent_p.S1305S|NAV1_ENST00000367302.1_Silent_p.S1261S|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Silent_p.S1248S NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 1308 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding p.S1305S(1) breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 AGGAGGTATCGGAGCTGCGCT 0.562000 3 26 0 0 1 0 0 HLA-DOA 3111 broad.mit.edu 37 6 32975186 32975186 + Missense_Mutation SNP C C T TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr6:32975186C>T ENST00000229829.5 - 3 590 c.515G>A c.(514-516)cGc>cAc p.R172H HLA-DOA_ENST00000450833.2_Missense_Mutation_p.R142H NM_002119.3 NP_002110.1 P06340 DOA_HUMAN major histocompatibility complex, class II, DO alpha 172 Alpha-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 9 GTGGAACTTGCGGAACAAATG 0.597000 4 111 0 0 1 0 0 HGF 3082 broad.mit.edu 37 7 81339552 81339552 + Silent SNP T T G TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr7:81339552T>G ENST00000222390.5 - 13 1678 c.1452A>C c.(1450-1452)gtA>gtC p.V484V HGF_ENST00000457544.2_Silent_p.V479V NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 484 epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 CACAAGATATTACGGGATCTG 0.313000 13 69 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1926499 1926499 + Nonsense_Mutation SNP C C A TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr2:1926499C>A ENST00000399161.2 - 10 1789 c.1042G>T c.(1042-1044)Gag>Tag p.E348* MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E348* NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 348 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GGATTCCTCTCCTGCGGGTTG 0.572000 6 39 1 1 1 1 0 HDAC5 10014 broad.mit.edu 37 17 42168661 42168661 + Missense_Mutation SNP C C T TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr17:42168661C>T ENST00000225983.6 - 11 1690 c.1367G>A c.(1366-1368)cGg>cAg p.R456Q HDAC5_ENST00000586802.1_Missense_Mutation_p.R455Q|HDAC5_ENST00000393622.2_Missense_Mutation_p.R455Q|HDAC5_ENST00000336057.5_Missense_Mutation_p.R455Q Q9UQL6 HDAC5_HUMAN histone deacetylase 5 455 B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) GCTCTGCTGCCGGGCCTGCTC 0.637000 3 11 0 0 1 0 0 CTNND1 1500 broad.mit.edu 37 11 57569254 57569254 + Missense_Mutation SNP T T C TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr11:57569254T>C ENST00000524630.1 + 7 1519 c.1006T>C c.(1006-1008)Tgg>Cgg p.W336R CTNND1_ENST00000526938.1_Missense_Mutation_p.W336R|CTNND1_ENST00000529919.1_Missense_Mutation_p.W336R|CTNND1_ENST00000399050.4_Missense_Mutation_p.W336R|CTNND1_ENST00000358694.6_Missense_Mutation_p.W336R|CTNND1_ENST00000534579.1_Missense_Mutation_p.W282R|CTNND1_ENST00000527467.1_Missense_Mutation_p.W13R|CTNND1_ENST00000361332.4_Missense_Mutation_p.W336R|CTNND1_ENST00000533667.1_Missense_Mutation_p.W13R|CTNND1_ENST00000528621.1_Missense_Mutation_p.W282R|CTNND1_ENST00000532844.1_Missense_Mutation_p.W282R|CTNND1_ENST00000426142.2_Missense_Mutation_p.W235R|CTNND1_ENST00000530094.1_Missense_Mutation_p.W235R|CTNND1_ENST00000528232.1_Missense_Mutation_p.W235R|CTNND1_ENST00000532787.1_Missense_Mutation_p.W235R|CTNND1_ENST00000428599.2_Missense_Mutation_p.W336R|CTNND1_ENST00000360682.6_Missense_Mutation_p.W336R|CTNND1_ENST00000532463.1_Missense_Mutation_p.W235R|CTNND1_ENST00000526357.1_Missense_Mutation_p.W282R|CTNND1_ENST00000529526.1_Missense_Mutation_p.W282R|CTNND1_ENST00000532649.1_Missense_Mutation_p.W282R|CTNND1_ENST00000532245.1_Missense_Mutation_p.W235R|CTNND1_ENST00000530748.1_Missense_Mutation_p.W282R|CTNND1_ENST00000529873.1_Missense_Mutation_p.W282R|CTNND1_ENST00000399039.4_Missense_Mutation_p.W336R|CTNND1_ENST00000361796.4_Missense_Mutation_p.W336R|CTNND1_ENST00000415361.2_Missense_Mutation_p.W235R|CTNND1_ENST00000526772.1_Missense_Mutation_p.W13R|CTNND1_ENST00000531014.1_Missense_Mutation_p.W13R|CTNND1_ENST00000361391.6_Missense_Mutation_p.W336R|CTNND1_ENST00000529986.1_Missense_Mutation_p.W235R|CTNND1_ENST00000525902.1_Missense_Mutation_p.W13R O60716 CTND1_HUMAN catenin (cadherin-associated protein), delta 1 336 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) TCAATACTACTGGGCTCCTTT 0.507000 8 39 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38645343 38645343 + RNA SNP C C T rs75687299 by1000genomes TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr10:38645343C>T ENST00000494540.1 + 0 36 NR_003086.1 AAAGCAGCGGCGGCGTTTGCT 0.597000 3 9 0 0 1 0 0 PCDHGB2 0 broad.mit.edu 37 5 140741242 140741242 + Missense_Mutation SNP G G C TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr5:140741242G>C ENST00000522605.1 + 1 1540 c.1540G>C c.(1540-1542)Gtg>Ctg p.V514L PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCGGGGTGGTGTTCGCGCA 0.662000 17 64 0 0 1 0 0 IPO8 10526 broad.mit.edu 37 12 30790010 30790010 + Silent SNP G G A TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr12:30790010G>A ENST00000256079.4 - 22 2939 c.2601C>T c.(2599-2601)ttC>ttT p.F867F IPO8_ENST00000544829.1_Silent_p.F662F NM_006390.3 NP_006381.2 O15397 IPO8_HUMAN importin 8 867 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) CAAGGAAAAGGAAAAGAATTG 0.428000 16 76 0 0 1 0 0 CCDC171 203238 broad.mit.edu 37 9 15971695 15971695 + Missense_Mutation SNP T T C TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr9:15971695T>C ENST00000380701.3 + 26 4170 c.3842T>C c.(3841-3843)tTg>tCg p.L1281S CCDC171_ENST00000486641.2_Intron NM_173550.2 NP_775821.2 Q6TFL3 CI093_HUMAN coiled-coil domain containing 171 1281 TTCTTACCATTGAAAGCTGAA 0.418000 13 94 0 0 1 0 0 SYNPO 11346 broad.mit.edu 37 5 150028001 150028001 + Missense_Mutation SNP C C T TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr5:150028001C>T ENST00000394243.1 + 3 1270 c.896C>T c.(895-897)cCg>cTg p.P299L SYNPO_ENST00000519664.1_Missense_Mutation_p.P55L|SYNPO_ENST00000307662.4_Missense_Mutation_p.P55L|SYNPO_ENST00000522122.1_Missense_Mutation_p.P299L|SYNPO_ENST00000518872.1_Intron NM_001166208.1 NP_001159680.1 Q8N3V7 SYNPO_HUMAN synaptopodin 299 positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2) 18 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGTCCTCACCGGCCCCACCT 0.582000 9 84 0 0 1 0 0 GOLGA8DP 0 broad.mit.edu 37 15 22709637 22709637 + RNA SNP T T G rs140467724 by1000genomes TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr15:22709637T>G ENST00000314246.8 - 0 1147 CCCATCTGGTTTTTGAGTTTG 0.547000 4 148 0 0 1 0 0 MBOAT1 154141 broad.mit.edu 37 6 20113231 20113231 + Missense_Mutation SNP T T C TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr6:20113231T>C ENST00000541730.1 - 10 1233 c.638A>G c.(637-639)tAt>tGt p.Y213C MBOAT1_ENST00000324607.7_Missense_Mutation_p.Y362C Q6ZNC8 MBOA1_HUMAN membrane bound O-acyltransferase domain containing 1 362 phospholipid biosynthetic process integral to membrane acyltransferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5) 20 all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109) OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454) AACCCGCTGATAGCACACACT 0.458000 4 16 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220354264 220354264 + Missense_Mutation SNP C C G TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr2:220354264C>G ENST00000312358.7 + 36 8656 c.8524C>G c.(8524-8526)Ccc>Gcc p.P2842A AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 2842 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GGGTCCACCACCCCAAACCCC 0.667000 9 86 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49688109 49688109 + Missense_Mutation SNP C C T TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr3:49688109C>T ENST00000296452.4 + 4 1697 c.1583C>T c.(1582-1584)cCg>cTg p.P528L NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 528 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CTAGGAGAGCCGACCCCCCTG 0.607000 4 117 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 3 39 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2806865 2806865 + Missense_Mutation SNP T T A TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr8:2806865T>A ENST00000520002.1 - 69 10916 c.10361A>T c.(10360-10362)gAc>gTc p.D3454V CSMD1_ENST00000542608.1_Missense_Mutation_p.D3276V|CSMD1_ENST00000537824.1_Missense_Mutation_p.D3453V|CSMD1_ENST00000400186.3_Missense_Mutation_p.D3277V|CSMD1_ENST00000602723.1_Missense_Mutation_p.D3277V|CSMD1_ENST00000602557.1_Missense_Mutation_p.D3454V Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3454 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TCCATGAATGTCACCTTGAAA 0.333000 5 24 0 0 1 0 0 CATSPER1 117144 broad.mit.edu 37 11 65792834 65792834 + Silent SNP G G A TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr11:65792834G>A ENST00000312106.5 - 1 1154 c.1017C>T c.(1015-1017)ccC>ccT p.P339P NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 339 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 CAGCAGGGCCGGGGGCATCGT 0.597000 9 32 0 0 1 0 0 CLCNKA 0 broad.mit.edu 37 1 16351304 16351304 + Silent SNP G G A TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr1:16351304G>A ENST00000375692.1 + 5 404 c.276G>A c.(274-276)cgG>cgA p.R92R CLCNKA_ENST00000439316.2_Intron|CLCNKA_ENST00000420078.1_Silent_p.R92R|CLCNKA_ENST00000331433.4_Silent_p.R92R|CLCNKA_ENST00000464764.1_Intron P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 92 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) ACCTGCTCCGGTATCTTTCCT 0.632000 5 40 0 0 1 0 0 NXPE4 54827 broad.mit.edu 37 11 114450890 114450890 + Missense_Mutation SNP G G A TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr11:114450890G>A ENST00000375478.3 - 5 1243 c.1063C>T c.(1063-1065)Cgc>Tgc p.R355C NXPE4_ENST00000424261.2_Missense_Mutation_p.R71C NM_001077639.1 NP_001071107.1 neurexophilin and PC-esterase domain family, member 4 p.R355C(1) ATCCACTGGCGGATCGTGGAA 0.423000 11 123 0 0 1 0 0 AGTR1 185 broad.mit.edu 37 3 148459293 148459293 + Silent SNP C C A TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr3:148459293C>A ENST00000542281.1 + 4 917 c.471C>A c.(469-471)ggC>ggA p.G157G AGTR1_ENST00000402260.1_Silent_p.G157G|AGTR1_ENST00000418473.2_Silent_p.G157G|AGTR1_ENST00000474935.1_Silent_p.G157G|AGTR1_ENST00000475347.1_Silent_p.G157G|AGTR1_ENST00000404754.2_Silent_p.G157G|AGTR1_ENST00000497524.1_Silent_p.G157G|AGTR1_ENST00000461609.1_Silent_p.G157G|AGTR1_ENST00000349243.3_Silent_p.G157G NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 157 calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) TGCTGGCAGGCTTGGCCAGTT 0.443000 6 139 0.00116845 0.00121018 1 1 0 SPATA5 166378 broad.mit.edu 37 4 123848894 123848894 + Missense_Mutation SNP G G T TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr4:123848894G>T ENST00000274008.3 + 2 338 c.269G>T c.(268-270)aGt>aTt p.S90I SPATA5_ENST00000422835.2_3'UTR NM_145207.2 NP_660208.2 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 90 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 TTGCTTACTAGTTTGAACGGA 0.343000 29 58 1.13719e-10 1.19922e-10 1 1 0 BBS9 27241 broad.mit.edu 37 7 33573738 33573738 + Missense_Mutation SNP G G A TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr7:33573738G>A ENST00000242067.6 + 21 2992 c.2471G>A c.(2470-2472)cGt>cAt p.R824H BBS9_ENST00000396127.2_Missense_Mutation_p.R789H|BBS9_ENST00000350941.3_Missense_Mutation_p.R784H|BBS9_ENST00000354265.4_Missense_Mutation_p.R789H|BBS9_ENST00000355070.2_Missense_Mutation_p.R819H NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 824 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) AAAGGTGGCCGTCTCTGCCTA 0.483000 Bardet-Biedl syndrome 5 32 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17051578 17051578 + Missense_Mutation SNP G G A TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr3:17051578G>A ENST00000418129.2 + 2 827 c.362G>A c.(361-363)cGg>cAg p.R121Q PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Missense_Mutation_p.R121Q|PLCL2_ENST00000432376.1_Missense_Mutation_p.R121Q NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 247 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 ACAGGACTGCGGTACCTAATT 0.388000 6 94 0 0 1 0 0 RP11-435B5.5 0 broad.mit.edu 37 1 143391935 143391936 + RNA INS - - TG TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr1:143391935_143391936insTG ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA ATATATATATATAAAGAGATTG 0.252 7 6 --- --- --- --- STAG3L2 0 broad.mit.edu 37 7 74300803 74300804 + RNA INS - - A TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr7:74300803_74300804insA ENST00000423186.1 - 0 499 P0CL84 ST3L2_HUMAN nucleus binding breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 TCTTCATACTTAAAAAAAAAAA 0.455 4 4 --- --- --- --- CAMSAP1 157922 broad.mit.edu 37 9 138715799 138715800 + Frame_Shift_Ins INS - - T rs148250832 byFrequency TCGA-YL-A9WY-01A-11D-A41K-08 TCGA-YL-A9WY-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx a12577d4-bd62-4861-8ff9-5a105aefd37d f34aa0a2-b38e-4ace-9e89-354122af4010 g.chr9:138715799_138715800insT ENST00000389532.4 - 10 1460_1461 c.1396_1397insA c.(1396-1398)cagfs p.Q466fs CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.Q477fs|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.Q188fs NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 466 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GACTCACCTGGTTTTTTTTTCT 0.460 3 5 --- --- --- ---