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 HP1BP3 50809 broad.mit.edu 37 1 21083722 21083722 + Missense_Mutation SNP C C A TCGA-YL-A8HL-01A-11D-A364-08 TCGA-YL-A8HL-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d89e8265-9112-4d3b-b195-61d6a4ab09f3 331c8a3c-a039-4af9-aec3-e6e050a27e23 g.chr1:21083722C>A ENST00000375003.2 - 5 1962 c.462G>T c.(460-462)caG>caT p.Q154H HP1BP3_ENST00000312239.5_Missense_Mutation_p.Q306H Q5SSJ5 HP1B3_HUMAN heterochromatin protein 1, binding protein 3 306 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1) 16 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) CTACTGCTCTCTGCAGAGCGT 0.418 3 72 --- --- --- --- BCAR3 8412 broad.mit.edu 37 1 94032967 94032967 + Missense_Mutation SNP G G A TCGA-YL-A8HL-01A-11D-A364-08 TCGA-YL-A8HL-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d89e8265-9112-4d3b-b195-61d6a4ab09f3 331c8a3c-a039-4af9-aec3-e6e050a27e23 g.chr1:94032967G>A ENST00000370244.1 - 13 2456 c.2168C>T c.(2167-2169)aCt>aTt p.T723I BCAR3_ENST00000539242.1_Missense_Mutation_p.T399I|BCAR3_ENST00000370243.1_Missense_Mutation_p.T723I|BCAR3_ENST00000370247.3_Missense_Mutation_p.T632I|BCAR3_ENST00000260502.6_Missense_Mutation_p.T723I NM_001261408.1 NP_001248337.1 O75815 BCAR3_HUMAN breast cancer anti-estrogen resistance 3 723 Ras-GEF. response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 25 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) TCCTTCAAAAGTCACAGCCTG 0.502 27 22 --- --- --- --- CACNA1D 776 broad.mit.edu 37 3 53785827 53785827 + Missense_Mutation SNP C C G TCGA-YL-A8HL-01A-11D-A364-08 TCGA-YL-A8HL-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d89e8265-9112-4d3b-b195-61d6a4ab09f3 331c8a3c-a039-4af9-aec3-e6e050a27e23 g.chr3:53785827C>G ENST00000288139.4 + 29 3746 c.3628C>G c.(3628-3630)Ccc>Gcc p.P1210A CACNA1D_ENST00000350061.5_Missense_Mutation_p.P1190A|CACNA1D_ENST00000540742.1_Missense_Mutation_p.P97A|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1190A NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GAGATACATCCCCAAAAACCC 0.502 5 137 --- --- --- --- INSIG1 3638 broad.mit.edu 37 7 155094516 155094516 + Missense_Mutation SNP G G A TCGA-YL-A8HL-01A-11D-A364-08 TCGA-YL-A8HL-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d89e8265-9112-4d3b-b195-61d6a4ab09f3 331c8a3c-a039-4af9-aec3-e6e050a27e23 g.chr7:155094516G>A ENST00000340368.4 + 5 975 c.764G>A c.(763-765)gGa>gAa p.G255E INSIG1_ENST00000344756.4_Missense_Mutation_p.G103E|INSIG1_ENST00000342407.5_Missense_Mutation_p.E158K NM_005542.4 NP_005533.2 O15503 INSI1_HUMAN insulin induced gene 1 255 cell proliferation|ER-nuclear sterol response pathway endoplasmic reticulum membrane|integral to membrane protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 19 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTTTTCTCAGGAGGCGTCACG 0.408 6 96 --- --- --- --- RGS3 5998 broad.mit.edu 37 9 116356449 116356449 + Missense_Mutation SNP G G T TCGA-YL-A8HL-01A-11D-A364-08 TCGA-YL-A8HL-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d89e8265-9112-4d3b-b195-61d6a4ab09f3 331c8a3c-a039-4af9-aec3-e6e050a27e23 g.chr9:116356449G>T ENST00000462403.1 + 1 684 c.250G>T c.(250-252)Gcc>Tcc p.A84S RGS3_ENST00000343817.5_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000374140.2_Intron NM_144489.2 NP_652760.2 P49796 RGS3_HUMAN regulator of G-protein signaling 3 0 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 TGTGGCTGCAGCCTGCACCGT 0.677 19 41 --- --- --- --- ZNF215 7762 broad.mit.edu 37 11 6977301 6977301 + Missense_Mutation SNP A A C TCGA-YL-A8HL-01A-11D-A364-08 TCGA-YL-A8HL-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d89e8265-9112-4d3b-b195-61d6a4ab09f3 331c8a3c-a039-4af9-aec3-e6e050a27e23 g.chr11:6977301A>C ENST00000278319.5 + 7 1681 c.1093A>C c.(1093-1095)Aca>Cca p.T365P ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.T365P|ZNF215_ENST00000527171.1_3'UTR NM_013250.2 NP_037382.2 Q9UL58 ZN215_HUMAN zinc finger protein 215 365 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) GAGTTTGAGTACAGATATTCG 0.333 22 34 --- --- --- --- CEP57 9702 broad.mit.edu 37 11 95561040 95561040 + Missense_Mutation SNP G G T TCGA-YL-A8HL-01A-11D-A364-08 TCGA-YL-A8HL-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d89e8265-9112-4d3b-b195-61d6a4ab09f3 331c8a3c-a039-4af9-aec3-e6e050a27e23 g.chr11:95561040G>T ENST00000325542.5 + 9 1214 c.976G>T c.(976-978)Gtc>Ttc p.V326F CEP57_ENST00000325486.5_Missense_Mutation_p.V300F|CEP57_ENST00000537677.1_Missense_Mutation_p.V299F|CEP57_ENST00000541150.1_Missense_Mutation_p.V317F NM_001243776.1|NM_014679.4 NP_001230705.1|NP_055494.2 Q86XR8 CEP57_HUMAN centrosomal protein 57kDa 326 Mediates interaction with microtubules (By similarity). fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development centrosome|cytosol|Golgi apparatus|microtubule|nucleus fibroblast growth factor binding|protein homodimerization activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CAATGATCGAGTCATCAACAG 0.443 Mosaic Variegated Aneuploidy Syndrome 26 45 --- --- --- --- ITPR2 3709 broad.mit.edu 37 12 26780982 26780982 + Silent SNP G G A TCGA-YL-A8HL-01A-11D-A364-08 TCGA-YL-A8HL-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d89e8265-9112-4d3b-b195-61d6a4ab09f3 331c8a3c-a039-4af9-aec3-e6e050a27e23 g.chr12:26780982G>A ENST00000381340.3 - 23 3464 c.3048C>T c.(3046-3048)gaC>gaT p.D1016D ITPR2_ENST00000545902.1_5'UTR|RP11-666F17.1_ENST00000414098.2_RNA NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 1016 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) GTAGTAAAGTGTCTGGAGATC 0.333 81 102 --- --- --- --- ARMC5 79798 broad.mit.edu 37 16 31476480 31476480 + Silent SNP G G T TCGA-YL-A8HL-01A-11D-A364-08 TCGA-YL-A8HL-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d89e8265-9112-4d3b-b195-61d6a4ab09f3 331c8a3c-a039-4af9-aec3-e6e050a27e23 g.chr16:31476480G>T ENST00000457010.2 + 4 2837 c.2136G>T c.(2134-2136)ctG>ctT p.L712L ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000408912.3_Intron|ARMC5_ENST00000268314.4_Intron|ARMC5_ENST00000563544.1_Intron|ARMC5_ENST00000538189.1_Intron NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 0 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 GGGCTGGTCTGTGCTTCTTTC 0.622 8 7 --- --- --- --- CNGB1 1258 broad.mit.edu 37 16 57921842 57921842 + Missense_Mutation SNP C C T TCGA-YL-A8HL-01A-11D-A364-08 TCGA-YL-A8HL-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d89e8265-9112-4d3b-b195-61d6a4ab09f3 331c8a3c-a039-4af9-aec3-e6e050a27e23 g.chr16:57921842C>T ENST00000564448.1 - 32 3421 c.3361G>A c.(3361-3363)Ggc>Agc p.G1121S CNGB1_ENST00000251102.8_Missense_Mutation_p.G1127S Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 1127 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 GCAAGTTTGCCGCCTTTTGCC 0.612 29 50 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577514 7577514 + Missense_Mutation SNP G G A TCGA-YL-A8HL-01A-11D-A364-08 TCGA-YL-A8HL-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d89e8265-9112-4d3b-b195-61d6a4ab09f3 331c8a3c-a039-4af9-aec3-e6e050a27e23 g.chr17:7577514G>A ENST00000420246.2 - 7 899 c.767C>T c.(766-768)aCa>aTa p.T256I TP53_ENST00000413465.2_Missense_Mutation_p.T256I|TP53_ENST00000445888.2_Missense_Mutation_p.T256I|TP53_ENST00000269305.4_Missense_Mutation_p.T256I|TP53_ENST00000359597.4_Missense_Mutation_p.T256I|TP53_ENST00000455263.2_Missense_Mutation_p.T256I NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 256 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). T -> I (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.T256I(2)|p.T256K(2)|p.?(1)|p.T256fs*8(1)|p.I254fs*7(1)|p.T256fs*90(1)|p.T256fs*89(1)|p.T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*87(1)|p.I254_T256del(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) GTCTTCCAGTGTGATGATGGT 0.592 111 """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) 15 5 --- --- --- --- SCN4A 6329 broad.mit.edu 37 17 62049712 62049712 + Splice_Site SNP G G A TCGA-YL-A8HL-01A-11D-A364-08 TCGA-YL-A8HL-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d89e8265-9112-4d3b-b195-61d6a4ab09f3 331c8a3c-a039-4af9-aec3-e6e050a27e23 g.chr17:62049712G>A ENST00000435607.1 - 2 468 c.392C>T c.(391-393)gCg>gTg p.A131V SCN4A_ENST00000578147.1_Splice_Site_p.A131V NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 131 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GGCAGGATATGCATGGATGAG 0.617 10 8 --- --- --- --- CDH20 28316 broad.mit.edu 37 18 59166542 59166542 + Nonsense_Mutation SNP C C T TCGA-YL-A8HL-01A-11D-A364-08 TCGA-YL-A8HL-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d89e8265-9112-4d3b-b195-61d6a4ab09f3 331c8a3c-a039-4af9-aec3-e6e050a27e23 g.chr18:59166542C>T ENST00000262717.4 + 3 768 c.370C>T c.(370-372)Cga>Tga p.R124* CDH20_ENST00000536675.2_Nonsense_Mutation_p.R124*|CDH20_ENST00000538374.1_Nonsense_Mutation_p.R124* Q9HBT6 CAD20_HUMAN cadherin 20, type 2 124 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) GAGGCTCGACCGAGAGGAAAG 0.537 12 13 --- --- --- --- OR7D2 162998 broad.mit.edu 37 19 9296747 9296747 + Missense_Mutation SNP G G A TCGA-YL-A8HL-01A-11D-A364-08 TCGA-YL-A8HL-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d89e8265-9112-4d3b-b195-61d6a4ab09f3 331c8a3c-a039-4af9-aec3-e6e050a27e23 g.chr19:9296747G>A ENST00000344248.2 + 1 469 c.290G>A c.(289-291)tGc>tAc p.C97Y NM_175883.2 NP_787079.1 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, member 2 97 regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 20 TACATGGACTGCCTCACACAG 0.517 6 90 --- --- --- --- FLRT3 23767 broad.mit.edu 37 20 14307317 14307317 + Missense_Mutation SNP G G T TCGA-YL-A8HL-01A-11D-A364-08 TCGA-YL-A8HL-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d89e8265-9112-4d3b-b195-61d6a4ab09f3 331c8a3c-a039-4af9-aec3-e6e050a27e23 g.chr20:14307317G>T ENST00000378053.3 - 2 1092 c.836C>A c.(835-837)tCc>tAc p.S279Y MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.S279Y|MACROD2_ENST00000217246.4_Intron NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 279 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) GTTATTATTGGACATATCCAG 0.413 24 34 --- --- --- ---