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 RP11-407N17.3 0 broad.mit.edu 37 14 39716388 39716388 + Missense_Mutation SNP A A G TCGA-IM-A3ED-01A-11D-A202-08 TCGA-IM-A3ED-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7d3599f-0218-4d1d-aed8-c45c188cd71d ea16b689-e941-4ea0-ad31-9504e19ed28b g.chr14:39716388A>G ENST00000553728.1 + 4 823 c.610A>G c.(610-612)Atg>Gtg p.M204V MIA2_ENST00000280082.3_Missense_Mutation_p.M204V|MIA2_ENST00000556784.1_Missense_Mutation_p.M203V TGTTGAAAGTATGGAACAGGA 0.433000 3 79 0 0 0.150653 0 0 CACNA1B 774 broad.mit.edu 37 9 140953611 140953611 + Silent SNP C C T TCGA-IM-A3ED-01A-11D-A202-08 TCGA-IM-A3ED-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7d3599f-0218-4d1d-aed8-c45c188cd71d ea16b689-e941-4ea0-ad31-9504e19ed28b g.chr9:140953611C>T ENST00000277549.5 + 31 4711 c.2142C>T c.(2140-2142)tgC>tgT p.C714C CACNA1B_ENST00000371357.1_Silent_p.C1519C|CACNA1B_ENST00000371355.4_Silent_p.C1519C|CACNA1B_ENST00000371363.1_Silent_p.C1518C|CACNA1B_ENST00000371372.1_Silent_p.C1518C|CACNA1B_ENST00000277551.2_Silent_p.C1518C Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1518 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CCATGGAATGCGTGCTGAAGA 0.507000 13 15 0 0 0.457914 0 0 EPHB6 0 broad.mit.edu 37 7 142565403 142565403 + Silent SNP G G C TCGA-IM-A3ED-01A-11D-A202-08 TCGA-IM-A3ED-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7d3599f-0218-4d1d-aed8-c45c188cd71d ea16b689-e941-4ea0-ad31-9504e19ed28b g.chr7:142565403G>C ENST00000392957.2 + 12 2575 c.1788G>C c.(1786-1788)gtG>gtC p.V596V EPHB6_ENST00000411471.2_Silent_p.V319V|EPHB6_ENST00000442129.1_Silent_p.V596V NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 596 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) TCTCCTTGGTGATCGGCTCCA 0.637000 10 12 0 0 0.387290 0 0 CROCC 9696 broad.mit.edu 37 1 17272075 17272075 + Missense_Mutation SNP G G A rs2781608 by1000genomes TCGA-IM-A3ED-01A-11D-A202-08 TCGA-IM-A3ED-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7d3599f-0218-4d1d-aed8-c45c188cd71d ea16b689-e941-4ea0-ad31-9504e19ed28b g.chr1:17272075G>A ENST00000375541.5 + 15 2179 c.2110G>A c.(2110-2112)Gcc>Acc p.A704T CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 704 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity p.A704T(11) breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GGCCGAGAAGGCCGAGGTGGC 0.657000 5 31 0 0 0.184627 0 0 FBXW8 26259 broad.mit.edu 37 12 117402520 117402520 + Silent SNP G G A TCGA-IM-A3ED-01A-11D-A202-08 TCGA-IM-A3ED-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7d3599f-0218-4d1d-aed8-c45c188cd71d ea16b689-e941-4ea0-ad31-9504e19ed28b g.chr12:117402520G>A ENST00000455858.2 + 5 571 c.498G>A c.(496-498)gtG>gtA p.V166V FBXW8_ENST00000309909.5_Silent_p.V232V NM_012174.1|NM_153348.2 NP_036306.1|NP_699179.2 Q8N3Y1 FBXW8_HUMAN F-box and WD repeat domain containing 8 232 protein binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 22 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0353) CAGGGGATGTGAGAGTGTGGG 0.522000 75 183 0 0 0.870114 0 0 CLIC5 53405 broad.mit.edu 37 6 45917096 45917096 + Missense_Mutation SNP G G C TCGA-IM-A3ED-01A-11D-A202-08 TCGA-IM-A3ED-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7d3599f-0218-4d1d-aed8-c45c188cd71d ea16b689-e941-4ea0-ad31-9504e19ed28b g.chr6:45917096G>C ENST00000185206.6 - 3 825 c.673C>G c.(673-675)Cta>Gta p.L225V CLIC5_ENST00000339561.6_Missense_Mutation_p.L66V|CLIC5_ENST00000544153.1_Missense_Mutation_p.L66V NM_001114086.1 NP_001107558.1 Q9NZA1 CLIC5_HUMAN chloride intracellular channel 5 225 female pregnancy actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center protein binding|voltage-gated chloride channel activity endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 13 CCGGGGGCTAGGTTGTGCAGG 0.542000 48 80 0 0 0.870114 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-IM-A3ED-01A-11D-A202-08 TCGA-IM-A3ED-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7d3599f-0218-4d1d-aed8-c45c188cd71d ea16b689-e941-4ea0-ad31-9504e19ed28b g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 3 76 0 0 0.150653 0 0 KLHL32 114792 broad.mit.edu 37 6 97561919 97561919 + Silent SNP G G A TCGA-IM-A3ED-01A-11D-A202-08 TCGA-IM-A3ED-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7d3599f-0218-4d1d-aed8-c45c188cd71d ea16b689-e941-4ea0-ad31-9504e19ed28b g.chr6:97561919G>A ENST00000369261.4 + 7 1251 c.888G>A c.(886-888)ggG>ggA p.G296G KLHL32_ENST00000536676.1_Silent_p.G260G|KLHL32_ENST00000539200.1_Silent_p.G227G|KLHL32_ENST00000544166.1_Intron NM_052904.3 NP_443136.2 Q96NJ5 KLH32_HUMAN kelch-like family member 32 296 breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) TCATTGGTGGGAAAAAGCGCG 0.517000 18 44 0 0 0.557998 0 0 LCA5 167691 broad.mit.edu 37 6 80228599 80228599 + Missense_Mutation SNP C C T TCGA-IM-A3ED-01A-11D-A202-08 TCGA-IM-A3ED-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7d3599f-0218-4d1d-aed8-c45c188cd71d ea16b689-e941-4ea0-ad31-9504e19ed28b g.chr6:80228599C>T ENST00000392959.1 - 3 624 c.13G>A c.(13-15)Gca>Aca p.A5T LCA5_ENST00000369846.4_Missense_Mutation_p.A5T|LCA5_ENST00000467898.2_Missense_Mutation_p.A5T NM_181714.3 NP_859065.2 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 5 protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) GGACTTCCTGCTCTTTCCCCC 0.388000 65 174 0 0 0.870114 0 0 PRDM9 56979 broad.mit.edu 37 5 23527796 23527796 + Missense_Mutation SNP C C T TCGA-IM-A3ED-01A-11D-A202-08 TCGA-IM-A3ED-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7d3599f-0218-4d1d-aed8-c45c188cd71d ea16b689-e941-4ea0-ad31-9504e19ed28b g.chr5:23527796C>T ENST00000296682.3 + 11 2781 c.2599C>T c.(2599-2601)Cgg>Tgg p.R867W NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 867 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GGAGTGTGGGCGGGGCTTTAG 0.562000 HNSCC(3;0.000094) 34 82 0 0 0.769981 0 0 SYNPO2 171024 broad.mit.edu 37 4 119944646 119944646 + Missense_Mutation SNP T T G TCGA-IM-A3ED-01A-11D-A202-08 TCGA-IM-A3ED-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7d3599f-0218-4d1d-aed8-c45c188cd71d ea16b689-e941-4ea0-ad31-9504e19ed28b g.chr4:119944646T>G ENST00000307142.4 + 2 363 c.167T>G c.(166-168)aTc>aGc p.I56S SYNPO2_ENST00000434046.2_Missense_Mutation_p.I56S|SYNPO2_ENST00000429713.2_Missense_Mutation_p.I56S|SYNPO2_ENST00000448416.2_Missense_Mutation_p.I56S NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 56 PDZ. nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GTGGTTTCCATCAATGGCAAC 0.438000 3 80 0 0 0.115264 0 0 GRIN3A 116443 broad.mit.edu 37 9 104432410 104432410 + Missense_Mutation SNP C C T TCGA-IM-A3ED-01A-11D-A202-08 TCGA-IM-A3ED-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7d3599f-0218-4d1d-aed8-c45c188cd71d ea16b689-e941-4ea0-ad31-9504e19ed28b g.chr9:104432410C>T ENST00000361820.3 - 3 2884 c.2284G>A c.(2284-2286)Gca>Aca p.A762T NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 762 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GCCAAGTTTGCCGTGTATGTG 0.418000 3 78 0 0 0.115264 0 0 ANK3 288 broad.mit.edu 37 10 61835632 61835632 + Silent SNP C C T TCGA-IM-A3ED-01A-11D-A202-08 TCGA-IM-A3ED-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7d3599f-0218-4d1d-aed8-c45c188cd71d ea16b689-e941-4ea0-ad31-9504e19ed28b g.chr10:61835632C>T ENST00000280772.1 - 37 5198 c.5007G>A c.(5005-5007)ccG>ccA p.P1669P ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1669 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 AAGATATTAGCGGTGCTGCTG 0.393000 27 77 0 0 0.706142 0 0 TMEM132A 54972 broad.mit.edu 37 11 60694815 60694815 + Silent SNP C C A TCGA-IM-A3ED-01A-11D-A202-08 TCGA-IM-A3ED-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7d3599f-0218-4d1d-aed8-c45c188cd71d ea16b689-e941-4ea0-ad31-9504e19ed28b g.chr11:60694815C>A ENST00000005286.4 + 2 393 c.240C>A c.(238-240)acC>acA p.T80T TMEM132A_ENST00000453848.2_Silent_p.T80T NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 80 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 GATCTGAGACCTTTCTGCTCC 0.647000 4 127 0.000602214 0.000697301 0.184627 1 0 SLC7A11 23657 broad.mit.edu 37 4 139163108 139163108 + Missense_Mutation SNP T T C TCGA-IM-A3ED-01A-11D-A202-08 TCGA-IM-A3ED-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7d3599f-0218-4d1d-aed8-c45c188cd71d ea16b689-e941-4ea0-ad31-9504e19ed28b g.chr4:139163108T>C ENST00000280612.5 - 1 395 c.116A>G c.(115-117)cAg>cGg p.Q39R NM_014331.3 NP_055146.1 Q9UPY5 XCT_HUMAN solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 39 blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin integral to membrane|plasma membrane cystine:glutamate antiporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2) 18 all_hematologic(180;0.166) L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795) CCTCTTCAGCTGCACTTTCTC 0.527000 3 91 0 0 0.184627 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-IM-A3ED-01A-11D-A202-08 TCGA-IM-A3ED-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7d3599f-0218-4d1d-aed8-c45c188cd71d ea16b689-e941-4ea0-ad31-9504e19ed28b 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 61 0 0 0.654019 0 0 NOTCH3 4854 broad.mit.edu 37 19 15289709 15289709 + Silent SNP T T A TCGA-IM-A3ED-01A-11D-A202-08 TCGA-IM-A3ED-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7d3599f-0218-4d1d-aed8-c45c188cd71d ea16b689-e941-4ea0-ad31-9504e19ed28b g.chr19:15289709T>A ENST00000263388.2 - 23 3837 c.3762A>T c.(3760-3762)ccA>ccT p.P1254P NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1254 EGF-like 32. Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CATGCTGGCATGGCTGGGACT 0.652000 5 12 0 0 0.217242 0 0 SP8 221833 broad.mit.edu 37 7 20824941 20824943 + In_Frame_Del DEL GCC GCC - TCGA-IM-A3ED-01A-11D-A202-08 TCGA-IM-A3ED-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7d3599f-0218-4d1d-aed8-c45c188cd71d ea16b689-e941-4ea0-ad31-9504e19ed28b g.chr7:20824941_20824943delGCC ENST00000361443.4 - 3 676_678 c.439_441delGGC c.(439-441)del p.G147del SP8_ENST00000418710.2_In_Frame_Del_p.G165del NM_198956.2 NP_945194.1 Q8IXZ3 SP8_HUMAN Sp8 transcription factor 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G165delG(1)|p.G147delG(1) NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 8 GCGCGGAGGAgccgccgccgccg 0.729 6 5 --- --- --- --- ROBO3 64221 broad.mit.edu 37 11 124750448 124750453 + In_Frame_Del DEL CGGAGT CGGAGT - rs55725290 TCGA-IM-A3ED-01A-11D-A202-08 TCGA-IM-A3ED-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7d3599f-0218-4d1d-aed8-c45c188cd71d ea16b689-e941-4ea0-ad31-9504e19ed28b g.chr11:124750448_124750453delCGGAGT ENST00000397801.1 + 27 4285_4290 c.4093_4098delCGGAGT c.(4093-4098)del p.RS1367del ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 1367 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TGgccggagccggagtcggagtcaga 0.660 4 4 --- --- --- --- EMC10 284361 broad.mit.edu 37 19 50985131 50985132 + Frame_Shift_Ins INS - - G TCGA-IM-A3ED-01A-11D-A202-08 TCGA-IM-A3ED-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7d3599f-0218-4d1d-aed8-c45c188cd71d ea16b689-e941-4ea0-ad31-9504e19ed28b g.chr19:50985131_50985132insG ENST00000376918.3 + 7 738_739 c.692_693insG c.(691-693)cggfs p.R231fs EMC10_ENST00000334976.6_Intron|EMC10_ENST00000598585.1_Intron|CTD-2545M3.2_ENST00000598194.1_RNA NM_175063.4 NP_778233.4 ER membrane protein complex subunit 10 p.A234fs*56(1) CACATCATCCTGGGGGGGGCCG 0.738 5 10 --- --- --- ---