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 DNAH9 1770 broad.mit.edu 37 17 11757449 11757449 + Missense_Mutation SNP G G A TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr17:11757449G>A ENST00000262442.3 + 50 9705 c.9637G>A c.(9637-9639)Gtc>Atc p.V3213I DNAH9_ENST00000454412.2_Missense_Mutation_p.V3213I NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3213 Stalk (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGCTGCTAAGGTCACCATGGC 0.562000 28 54 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25415809 25415809 + RNA SNP C C T rs2739838 by1000genomes TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr15:25415809C>T ENST00000549301.1 + 0 323 SNHG14_ENST00000553149.1_RNA CTGCACTGAGCTGTGGTGAGC 0.622000 6 102 0 0 1 0 0 MCCD1 401250 broad.mit.edu 37 6 31496941 31496941 + Silent SNP G G A TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr6:31496941G>A ENST00000376191.2 + 1 448 c.150G>A c.(148-150)ggG>ggA p.G50G NM_001011700.2 NP_001011700.2 P59942 MCCD1_HUMAN mitochondrial coiled-coil domain 1 50 mitochondrion skin(1) 1 GAGGAAATGGGAAGATGACGT 0.562000 30 39 0 0 1 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45457749 45457749 + RNA SNP G G A rs116849587 by1000genomes TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr12:45457749G>A ENST00000548424.1 + 0 448 TTGGCCTGGGGCAGTTCACCA 0.458000 4 77 0 0 1 0 0 OR4A47 403253 broad.mit.edu 37 11 48510460 48510460 + Missense_Mutation SNP G G A rs148277853 TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr11:48510460G>A ENST00000446524.1 + 1 192 c.116G>A c.(115-117)gGc>gAc p.G39D NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 ACCATGGTGGGCAACCTGCTC 0.413000 22 24 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133350748 133350748 + Missense_Mutation SNP C C G TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr12:133350748C>G ENST00000204726.3 - 23 4860 c.4302G>C c.(4300-4302)caG>caC p.Q1434H GOLGA3_ENST00000450791.2_Missense_Mutation_p.Q1434H NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1434 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) CGTACTTGAGCTGCTGGAGGC 0.602000 20 34 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 5 50 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 8 63 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871094 170871094 + Silent SNP G G A TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr6:170871094G>A ENST00000392092.2 + 3 549 c.270G>A c.(268-270)caG>caA p.Q90Q TBP_ENST00000540980.1_Silent_p.Q70Q|TBP_ENST00000230354.6_Silent_p.Q90Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 90 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.622000 4 46 0 0 1 0 0 DRD4 1815 broad.mit.edu 37 11 640585 640585 + Silent SNP C C T TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr11:640585C>T ENST00000176183.5 + 4 1254 c.1242C>T c.(1240-1242)gcC>gcT p.A414A NM_000797.3 NP_000788.2 P21917 DRD4_HUMAN dopamine receptor D4 462 activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior integral to plasma membrane dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703) Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246) TCCGCAAGGCCCTGCGTGCCT 0.657000 23 36 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 5 50 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661187 22661187 + RNA SNP G G A TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr22:22661187G>A ENST00000426066.1 + 0 279 NR_027293.1 CCCCCACCCCGTCATGTACAG 0.413000 7 31 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659578 24659578 + RNA SNP A A G TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr22:24659578A>G ENST00000414583.2 + 0 3103 NR_003714.1 TGCGCAGGCCAACACTCACTG 0.617000 4 21 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 3937126 3937126 + Missense_Mutation SNP T T C TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr9:3937126T>C ENST00000324333.10 - 4 1502 c.1309A>G c.(1309-1311)Aca>Gca p.T437A GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.T592A NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 437 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) TTCTCGCCTGTGTGGCTCCGC 0.507000 40 74 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977377 29977377 + RNA SNP C C G TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr6:29977377C>G ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA TTTGTGACTTCAAGAACCCTG 0.458000 3 32 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 11012916 11012916 + Splice_Site SNP C C A rs4041777 TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr21:11012916C>A ENST00000415664.2 - 8 1004 c.e8+1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCAAATTTTACCTAGCTTTTT 0.299000 10 31 7.48243e-07 7.68466e-07 1 1 0 CGRRF1 10668 broad.mit.edu 37 14 54976644 54976644 + Translation_Start_Site SNP G G A rs75987656 byFrequency TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr14:54976644G>A ENST00000216420.7 + 0 99 NM_006568.2 NP_006559.1 Q99675 CGRF1_HUMAN cell growth regulator with ring finger domain 1 cell cycle arrest|negative regulation of cell proliferation|response to stress zinc ion binding endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1) 13 gggctccgcggctggagccgg 0.622000 OREG0022692 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 36 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 25 47 0 0 1 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417467 150417467 + Silent SNP C C T TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr7:150417467C>T ENST00000307194.5 + 3 515 c.375C>T c.(373-375)acC>acT p.T125T NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTCGGTTCACCGCCCAGGACC 0.637000 20 38 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74011029 74011029 + Silent SNP G G C TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr17:74011029G>C ENST00000301607.3 - 17 2443 c.2190C>G c.(2188-2190)cgC>cgG p.R730R EVPL_ENST00000586740.1_Silent_p.R752R NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 730 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CGGCGTGGTAGCGGTCGGTGA 0.667000 12 21 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 38 0 0 1 0 0 INTS4L2 0 broad.mit.edu 37 7 65150816 65150817 + RNA INS - - C TCGA-DJ-A4UL-01A-11D-A257-08 TCGA-DJ-A4UL-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f10660a-2465-42ed-a2a9-206fbf06bc3f 008c8709-0bc8-4d3c-8792-abc47b447fac g.chr7:65150816_65150817insC ENST00000430126.2 + 0 757 TTCATCCCTCACCCCCCCCCCC 0.465 4 7 --- --- --- ---