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 TP53 7157 broad.mit.edu 37 17 7578394 7578394 + Missense_Mutation SNP T T G TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr17:7578394T>G ENST00000420246.2 - 5 668 c.536A>C c.(535-537)cAt>cCt p.H179P TP53_ENST00000413465.2_Missense_Mutation_p.H179P|TP53_ENST00000455263.2_Missense_Mutation_p.H179P|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.H179P|TP53_ENST00000445888.2_Missense_Mutation_p.H179P|TP53_ENST00000359597.4_Missense_Mutation_p.H179P NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 179 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(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) GCAGCGCTCATGGTGGGGGCA 0.642000 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) 17 37 0 0 0.520397 0 0 TUBBP5 643224 broad.mit.edu 37 9 141070116 141070116 + RNA SNP G G A rs142836124 by1000genomes TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr9:141070116G>A ENST00000503395.1 + 0 1196 p.R77H(1) GACTCTGTGCGCTCGGGGCCC 0.687000 5 81 0 0 0.217242 0 0 IGFBP5 3488 broad.mit.edu 37 2 217543684 217543684 + Silent SNP C C T TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr2:217543684C>T ENST00000233813.4 - 2 1205 c.456G>A c.(454-456)gtG>gtA p.V152V NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 152 negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction insulin-like growth factor I binding endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGTCCTTCTTCACTGCTTCAG 0.597000 29 37 0 0 0.717897 0 0 MAGEC3 139081 broad.mit.edu 37 X 140985590 140985590 + Missense_Mutation SNP T T C TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chrX:140985590T>C ENST00000298296.1 + 8 1904 c.1904T>C c.(1903-1905)gTc>gCc p.V635A MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000409007.1_3'UTR|MAGEC3_ENST00000536088.1_3'UTR NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 635 MAGE 2. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) AGCCCCAGTGTCATGTCCACC 0.517000 24 43 0 0 0.681144 0 0 MFN1 55669 broad.mit.edu 37 3 179080166 179080166 + Missense_Mutation SNP T T A TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr3:179080166T>A ENST00000471841.1 + 5 558 c.432T>A c.(430-432)caT>caA p.H144Q MFN1_ENST00000263969.5_Missense_Mutation_p.H144Q|MFN1_ENST00000280653.7_Missense_Mutation_p.H144Q NM_033540.2 NP_284941.2 Q8IWA4 MFN1_HUMAN mitofusin 1 144 mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1) 31 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) AACTGGCCCATGCCCTTCACA 0.368000 47 34 0 0 0.864702 0 0 MUC16 94025 broad.mit.edu 37 19 9085093 9085093 + Nonsense_Mutation SNP G G T TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr19:9085093G>T ENST00000397910.4 - 1 6925 c.6722C>A c.(6721-6723)tCa>tAa p.S2241* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2241 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGCCCCATCTGAAGGTGTGTC 0.468000 13 24 0.000151284 0.000162702 0.435327 1 0 C1orf159 54991 broad.mit.edu 37 1 1019763 1019763 + Splice_Site SNP C C T TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr1:1019763C>T ENST00000448924.1 - 10 1011 c.579_splice c.e10-1 p.A194_splice C1orf159_ENST00000421241.2_Splice_Site_p.A158_splice|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000379339.1_Splice_Site_p.A194_splice|C1orf159_ENST00000379320.1_Splice_Site_p.A158_splice|C1orf159_ENST00000294576.5_Splice_Site_p.A158_splice|C1orf159_ENST00000379319.1_Splice_Site_p.A158_splice Q96HA4 CA159_HUMAN chromosome 1 open reading frame 159 194 integral to membrane all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) ATCATTGCAGCCTTGAAAAGG 0.622000 7 16 0 0 0.248553 0 0 CWC22 57703 broad.mit.edu 37 2 180830667 180830667 + Missense_Mutation SNP T T C TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr2:180830667T>C ENST00000410053.3 - 12 1552 c.1253A>G c.(1252-1254)gAt>gGt p.D418G CWC22_ENST00000295749.6_Missense_Mutation_p.D418G NM_020943.2 NP_065994.1 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog (S. cerevisiae) 418 catalytic step 2 spliceosome protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1) 30 ACTCCCAGCATCCTGGTCTGT 0.363000 11 29 0 0 0.457914 0 0 SCN2A 6326 broad.mit.edu 37 2 166245201 166245201 + Missense_Mutation SNP C C T TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr2:166245201C>T ENST00000375437.2 + 27 5175 c.4885C>T c.(4885-4887)Cgt>Tgt p.R1629C SCN2A_ENST00000375427.2_Missense_Mutation_p.R1629C|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1629C|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1629C NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1629 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) CCGAGTGATCCGTCTTGCCAG 0.433000 19 59 0 0 0.654019 0 0 CEP120 153241 broad.mit.edu 37 5 122725742 122725742 + Silent SNP C C T TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr5:122725742C>T ENST00000306467.5 - 8 1435 c.1131G>A c.(1129-1131)ggG>ggA p.G377G CEP120_ENST00000306481.6_Silent_p.G351G|CEP120_ENST00000328236.5_Silent_p.G377G Q8N960 CE120_HUMAN centrosomal protein 120kDa 377 centrosome breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 29 GTGATTTTGGCCCAGTAAGTG 0.393000 3 41 0 0 0.115264 0 0 SLIT2 9353 broad.mit.edu 37 4 20544192 20544192 + Missense_Mutation SNP G G A TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr4:20544192G>A ENST00000504154.1 + 21 2471 c.2219G>A c.(2218-2220)tGt>tAt p.C740Y SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Missense_Mutation_p.C736Y|SLIT2_ENST00000273739.5_Missense_Mutation_p.C744Y|SLIT2_ENST00000503823.1_Missense_Mutation_p.C732Y NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 740 LRRNT 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GTCGTCCGATGTAGCAACAAG 0.418000 91 158 0 0 0.870114 0 0 TFRC 7037 broad.mit.edu 37 3 195789750 195789750 + Missense_Mutation SNP G G A TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr3:195789750G>A ENST00000360110.4 - 12 1548 c.1379C>T c.(1378-1380)tCg>tTg p.S460L TFRC_ENST00000420415.1_Missense_Mutation_p.S379L|TFRC_ENST00000465288.1_5'UTR|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.S178L|TFRC_ENST00000392396.3_Missense_Mutation_p.S460L NM_001128148.1 NP_001121620.1 P02786 TFR1_HUMAN transferrin receptor 460 cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) GGCACCAACCGATCCAAAGTC 0.448000 T BCL6 NHL 26 53 0 0 0.706142 0 0 NOTCH1 4851 broad.mit.edu 37 9 139397707 139397707 + Silent SNP G G A rs10521 by1000genomes TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr9:139397707G>A ENST00000277541.6 - 27 5169 c.5094C>T c.(5092-5094)gaC>gaT p.D1698D NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1698 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.D1699D(11) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) ATGCGGCCACGTCGGTGGCAC 0.632000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 3 51 0 0 0.115264 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994879 140994879 + Nonsense_Mutation SNP C C G TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chrX:140994879C>G ENST00000285879.4 + 4 1975 c.1689C>G c.(1687-1689)taC>taG p.Y563* MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 563 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CTCCTCACTACTTTCCTCAGA 0.572000 HNSCC(15;0.026) 12 457 0 0 0.411799 0 0 FRY 10129 broad.mit.edu 37 13 32783208 32783208 + Missense_Mutation SNP T T C TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr13:32783208T>C ENST00000380250.3 + 32 4733 c.4237T>C c.(4237-4239)Tca>Cca p.S1413P NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1413 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) AGAAGCCACGTCACTGGTCCT 0.542000 29 23 0 0 0.760397 0 0 SLC25A22 79751 broad.mit.edu 37 11 791950 791950 + Missense_Mutation SNP A A G TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr11:791950A>G ENST00000320230.5 - 10 1418 c.937T>C c.(937-939)Tcc>Ccc p.S313P SLC25A22_ENST00000531214.1_Missense_Mutation_p.S313P NM_001191061.1|NM_024698.5 NP_001177990.1|NP_078974.1 Q9H936 GHC1_HUMAN solute carrier family 25 (mitochondrial carrier: glutamate), member 22 313 integral to membrane|mitochondrial inner membrane|nucleus L-glutamate transmembrane transporter activity|protein binding|symporter activity endometrium(1)|kidney(1)|lung(2)|urinary_tract(1) 5 all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) L-Glutamic Acid(DB00142) CCCAGCAGGGACTCCGCGATG 0.716000 12 15 0 0 0.479597 0 0 PPP4C 5531 broad.mit.edu 37 16 30096327 30096327 + Missense_Mutation SNP C C T TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr16:30096327C>T ENST00000279387.7 + 9 1036 c.868C>T c.(868-870)Ccc>Tcc p.P290S PPP4C_ENST00000561610.1_Missense_Mutation_p.P290S NM_002720.1 NP_002711.1 P60510 PP4C_HUMAN protein phosphatase 4, catalytic subunit 290 microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination centrosome|nucleus metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1) 9 TGAGGCTGCTCCCCAAGAGAC 0.632000 41 67 0 0 0.859065 0 0 GSK3A 2931 broad.mit.edu 37 19 42740862 42740862 + Nonsense_Mutation SNP C C A TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr19:42740862C>A ENST00000398249.4 - 3 2029 c.316G>T c.(316-318)Gag>Tag p.E106* AC006486.9_ENST00000594664.1_Nonsense_Mutation_p.E101*|GSK3A_ENST00000222330.3_Nonsense_Mutation_p.E188* P49840 GSK3A_HUMAN glycogen synthase kinase 3 alpha 188 insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process beta-catenin destruction complex|cytosol ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity p.E188*(1) endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 19 Prostate(69;0.00682) AGGTAAAGCTCGTCTTTCTGC 0.562000 4 90 0.150653 0.156132 0.150653 1 0 KCNJ1 3758 broad.mit.edu 37 11 128710112 128710112 + Silent SNP G G A TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr11:128710112G>A ENST00000392665.2 - 2 171 c.27C>T c.(25-27)gtC>gtT p.V9V KCNJ1_ENST00000324036.3_Silent_p.V9V|KCNJ1_ENST00000392664.2_Silent_p.V28V|KCNJ1_ENST00000392666.1_Silent_p.V9V|KCNJ1_ENST00000440599.2_Silent_p.V9V NM_153764.2 NP_722448.1 P48048 IRK1_HUMAN potassium inwardly-rectifying channel, subfamily J, member 1 28 excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1) 23 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) AGCGAGTGACGACCCATTTCC 0.408000 36 122 0 0 0.796494 0 0 TMPRSS11E 28983 broad.mit.edu 37 4 69341983 69341983 + Silent SNP C C T rs138790575 byFrequency TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr4:69341983C>T ENST00000305363.4 + 7 598 c.534C>T c.(532-534)tgC>tgT p.C178C NM_014058.3 NP_054777.2 Q9UL52 TM11E_HUMAN transmembrane protease, serine 11E 178 proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity endometrium(1)|lung(19)|pancreas(1)|skin(3) 24 TTGCAGGCTGCGGAACACGAA 0.488000 48 78 0 0 0.870114 0 0 LRP1B 53353 broad.mit.edu 37 2 141806669 141806669 + Missense_Mutation SNP G G A TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr2:141806669G>A ENST00000389484.3 - 11 2646 c.1675C>T c.(1675-1677)Cgt>Tgt p.R559C NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 559 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCTAAAGCACGAGGGTTTACC 0.433000 TSP Lung(27;0.18) 42 111 0 0 0.870114 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr16:90161902A>G ENST00000564451.1 + 0 1255 TUBB8P7_ENST00000567960.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 3 36 0 0 0.150653 0 0 ITGA7 3679 broad.mit.edu 37 12 56079057 56079057 + Missense_Mutation SNP G G A TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr12:56079057G>A ENST00000257879.6 - 25 3414 c.3199C>T c.(3199-3201)Cgg>Tgg p.R1067W ITGA7_ENST00000553804.1_Missense_Mutation_p.R1071W|ITGA7_ENST00000452168.2_Missense_Mutation_p.R974W|ITGA7_ENST00000394229.2_Silent_p.N1104N|ITGA7_ENST00000257880.7_Silent_p.N1148N|ITGA7_ENST00000394230.2_Silent_p.N1108N|ITGA7_ENST00000347027.6_Missense_Mutation_p.R1061W|ITGA7_ENST00000555728.1_Missense_Mutation_p.R1111W NM_002206.2 NP_002197.2 Q13683 ITA7_HUMAN integrin, alpha 7 1111 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity 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 TGCTTCGCCCGTTTGAAGAAT 0.607000 17 26 0 0 0.592651 0 0 TTN 7273 broad.mit.edu 37 2 179596537 179596537 + Missense_Mutation SNP C C A TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr2:179596537C>A ENST00000589042.1 - 58 17289 c.17065G>T c.(17065-17067)Gat>Tat p.D5689Y TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D4445Y|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D5372Y|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5372 Ig-like 37. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACCAGATGATCCTGAATGAAA 0.502000 38 97 6.33695e-27 7.08247e-27 0.834066 1 0 FAM86DP 692099 broad.mit.edu 37 3 75476735 75476735 + RNA SNP C C T TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr3:75476735C>T ENST00000459803.1 - 0 621 NR_024241.1 p.E194E(3) CTCGGAGCTGCTCGAGGACCC 0.602000 3 37 0 0 0.115264 0 0 HCAR3 8843 broad.mit.edu 37 12 123200127 123200127 + Silent SNP G G A TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr12:123200127G>A ENST00000528880.2 - 1 1312 c.1158C>T c.(1156-1158)atC>atT p.I386I HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA NM_006018.2 NP_006009.2 P49019 HCAR3_HUMAN hydroxycarboxylic acid receptor 3 386 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Mepenzolate(DB04843)|Niacin(DB00627) GACATTACTCGATGCAACAGC 0.488000 37 73 0 0 0.847076 0 0 CARKD 55739 broad.mit.edu 37 13 111279875 111279875 + Missense_Mutation SNP C C T rs143742316 TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr13:111279875C>T ENST00000309957.2 + 5 490 c.476C>T c.(475-477)gCg>gTg p.A159V CARKD_ENST00000424185.2_Missense_Mutation_p.A49V|CARKD_ENST00000397191.4_Missense_Mutation_p.A96V|CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000458711.2_Intron NM_001242881.1|NM_018210.3 NP_001229810.1|NP_060680.2 Q8IW45 CARKD_HUMAN carbohydrate kinase domain containing 159 YjeF C-terminal. NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 15 AGAGATGATGCGCTTCTCAGA 0.507000 3 49 0 0 0.115264 0 0 EPHB4 2050 broad.mit.edu 37 7 100420084 100420084 + Missense_Mutation SNP C C T TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr7:100420084C>T ENST00000358173.3 - 4 1085 c.617G>A c.(616-618)cGa>cAa p.R206Q EPHB4_ENST00000360620.3_Missense_Mutation_p.R206Q|EPHB4_ENST00000477446.1_5'UTR NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 206 Cys-rich. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) CTCCGGGAATCGAGTCAGGTT 0.652000 5 14 0 0 0.217242 0 0 ERCC3 2071 broad.mit.edu 37 2 128046236 128046236 + Splice_Site SNP C C T rs138897577 TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr2:128046236C>T ENST00000493187.2 - 7 1298 c.835_splice c.e7+1 p.G279_splice ERCC3_ENST00000285398.2_Splice_Site_p.G343_splice P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 343 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) TACCACTTACCGCAGGGAAGA 0.532000 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 138 291 0 0 0.870114 0 0 KCNN2 3781 broad.mit.edu 37 5 113829157 113829157 + Silent SNP G G A TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr5:113829157G>A ENST00000512097.3 + 8 2458 c.1440G>A c.(1438-1440)gtG>gtA p.V480V KCNN2_ENST00000264773.3_Silent_p.V480V|KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000503706.1_Silent_p.V132V|RP11-492A10.1_ENST00000514115.1_RNA Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 480 Calmodulin-binding (By similarity). integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) ACACTTTGGTGGACTTGGCAA 0.408000 8 19 0 0 0.278610 0 0 PCDH17 27253 broad.mit.edu 37 13 58206802 58206802 + Missense_Mutation SNP A A C TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr13:58206802A>C ENST00000377918.3 + 1 148 c.122A>C c.(121-123)gAt>gCt p.D41A NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 41 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) ATCGGCAGGGATGCTCGACTG 0.662000 3 25 0 0 0.115264 0 0 ASB5 140458 broad.mit.edu 37 4 177136850 177136850 + Silent SNP G G A TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr4:177136850G>A ENST00000296525.3 - 7 1004 c.891C>T c.(889-891)tgC>tgT p.C297C ASB5_ENST00000512254.1_Silent_p.C244C NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 297 SOCS box. intracellular signal transduction endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) TACAGAGTCGGCAAAGTTGGT 0.358000 3 30 0 0 0.150653 0 0 CNBD1 168975 broad.mit.edu 37 8 87917339 87917339 + Silent SNP C C T TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr8:87917339C>T ENST00000518476.1 + 3 240 c.189C>T c.(187-189)caC>caT p.H63H NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 63 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 TATCAGCTCACGATACATTTA 0.343000 6 20 0 0 0.217242 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216210 20216210 + Silent SNP T T C TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr14:20216210T>C ENST00000331723.1 + 1 624 c.624T>C c.(622-624)tcT>tcC p.S208S NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTCTGCTGTCTCTTGTCTGCT 0.493000 18 39 0 0 0.520397 0 0 MAGEB2 4113 broad.mit.edu 37 X 30236705 30236705 + Missense_Mutation SNP G G A TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chrX:30236705G>A ENST00000378988.4 + 2 109 c.8G>A c.(7-9)cGt>cAt p.R3H NM_002364.4 NP_002355.2 O15479 MAGB2_HUMAN melanoma antigen family B, 2 3 protein binding breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1) 23 ATCATGCCTCGTGGTCAGAAG 0.527000 28 5 0 0 0.729181 0 0 PCDHA12 56137 broad.mit.edu 37 5 140255408 140255408 + Silent SNP C C T TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr5:140255408C>T ENST00000398631.2 + 1 351 c.351C>T c.(349-351)ttC>ttT p.F117F PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAGGTTTTCCATGTGGACG 0.562000 6 133 0 0 0.217242 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57871047 57871047 + Silent SNP A A T TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr12:57871047A>T ENST00000393797.2 - 8 1167 c.975T>A c.(973-975)ccT>ccA p.P325P ARHGAP9_ENST00000356411.2_Silent_p.P254P|ARHGAP9_ENST00000550288.1_Silent_p.P333P|ARHGAP9_ENST00000430041.2_Silent_p.P70P|ARHGAP9_ENST00000424809.2_Silent_p.P254P|ARHGAP9_ENST00000393791.3_Silent_p.P254P|ARHGAP9_ENST00000550454.1_5'UTR Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 254 PH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) CCATGGAGCCAGGGTTCTGGG 0.527000 14 36 0 0 0.457914 0 0 IGLC7 28834 broad.mit.edu 37 22 23264803 23264803 + RNA SNP A A G TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr22:23264803A>G ENST00000390331.1 + 0 38 CTCTGTTCCCACCCTCCTCTG 0.637000 3 35 0 0 0.115264 0 0 SLC47A1 55244 broad.mit.edu 37 17 19459314 19459314 + Missense_Mutation SNP T T C TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr17:19459314T>C ENST00000270570.4 + 10 946 c.860T>C c.(859-861)cTc>cCc p.L287P SLC47A1_ENST00000436810.2_Missense_Mutation_p.L264P|SLC47A1_ENST00000395585.1_Missense_Mutation_p.L287P|SLC47A1_ENST00000542886.1_3'UTR|SLC47A1_ENST00000457293.1_Missense_Mutation_p.L287P|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000571335.1_Missense_Mutation_p.L92P NM_018242.2 NP_060712.2 Q96FL8 S47A1_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 1 287 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) CCAGGCATCCTCGGCATGGTG 0.592000 21 31 0 0 0.639603 0 0 NEMF 9147 broad.mit.edu 37 14 50255970 50255970 + Missense_Mutation SNP C C T TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr14:50255970C>T ENST00000298310.5 - 28 3238 c.2789G>A c.(2788-2790)aGa>aAa p.R930K NEMF_ENST00000545773.1_Missense_Mutation_p.R888K|NEMF_ENST00000546046.1_Missense_Mutation_p.R909K|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000382135.2_Missense_Mutation_p.R130K O60524 NEMF_HUMAN nuclear export mediator factor 930 cytoplasm|nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 36 CTGTCCACCTCTAGGTTTCTG 0.413000 46 101 0 0 0.859065 0 0 G6PD 2539 broad.mit.edu 37 X 153763390 153763390 + Missense_Mutation SNP T T G TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chrX:153763390T>G ENST00000393562.2 - 5 951 c.568A>C c.(568-570)Agc>Cgc p.S190R G6PD_ENST00000497281.1_5'UTR|G6PD_ENST00000393564.2_Missense_Mutation_p.S160R|G6PD_ENST00000369620.2_Missense_Mutation_p.S160R NM_000402.3 NP_000393.4 P11413 G6PD_HUMAN glucose-6-phosphate dehydrogenase 160 cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4) 18 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TACATCTGGCTCATGCAGGAC 0.652000 43 40 0 0 0.859065 0 0 PCDHA4 56144 broad.mit.edu 37 5 140189040 140189040 + Silent SNP G G A rs146943849 byFrequency TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr5:140189040G>A ENST00000530339.1 + 1 2268 c.2268G>A c.(2266-2268)ccG>ccA p.P756P PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.P756P|PCDHA4_ENST00000356878.4_Silent_p.P756P|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAGGAGGCCGAGGGTGTGCT 0.652000 4 56 0 0 0.150653 0 0 SLC8A1 6546 broad.mit.edu 37 2 40655955 40655955 + Missense_Mutation SNP T T C TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr2:40655955T>C ENST00000406785.1 - 2 1655 c.1466A>G c.(1465-1467)gAa>gGa p.E489G SLC8A1_ENST00000542756.1_Missense_Mutation_p.E489G|SLC8A1_ENST00000542024.1_Missense_Mutation_p.E489G|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E489G|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E489G|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E489G|SLC8A1_ENST00000403092.1_Missense_Mutation_p.E489G|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E489G|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E489G|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E489G P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 489 Calx-beta 1. cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AAGGAAATTTTCATCCTCCTC 0.408000 24 43 0 0 0.654019 0 0 RBP3 5949 broad.mit.edu 37 10 48383918 48383918 + Frame_Shift_Del DEL G G - TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr10:48383918delG ENST00000224600.4 - 3 3427 c.3314delC c.(3313-3315)cafs p.P1105fs NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 1105 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) CAGCAGAACTGGAGGGCCTTC 0.537 25 48 --- --- --- --- KRT5 3852 broad.mit.edu 37 12 52911705 52911706 + Frame_Shift_Ins INS - - T TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr12:52911705_52911706insT ENST00000252242.4 - 4 1292_1293 c.902_903insA c.(901-903)attfs p.I301fs NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 301 Coil 1B.|Rod. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) TCTTCATGAAGTTAATCTCATC 0.421 39 78 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671273 25671273 + Frame_Shift_Del DEL G G - TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr13:25671273delG ENST00000281589.3 + 1 974 c.937delG c.(937-939)cgfs p.A313fs NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 313 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TCTCCGGAAAGCGTTTTCTCC 0.408 7 184 --- --- --- --- PPM1E 22843 broad.mit.edu 37 17 56833457 56833458 + In_Frame_Ins INS - - GAACCC rs72376816 by1000genomes TCGA-CQ-7065-01A-11D-2078-08 TCGA-CQ-7065-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64c422bb-a531-4636-8e68-bdaf212df6dc d1cb757d-641c-488c-a845-ee4a1075a662 g.chr17:56833457_56833458insGAACCC ENST00000308249.2 + 1 228_229 c.99_100insGAACCC c.(97-102)ccaacc>ccGAACCCaacc p.32_33insPN NM_014906.4 NP_055721.3 Q8WY54 PPM1E_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E 32 11 X 2 AA tandem repeats of P-E.|Glu-rich.|Pro-rich. protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) agccggagccggaacccgaacc 0.673 6 13 --- --- --- ---