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 SULT1E1 6783 broad.mit.edu 37 4 70723283 70723283 + Nonsense_Mutation SNP C C T TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 c9a09595-df86-4d5d-a085-8acb85b0e05e g.chr4:70723283C>T ENST00000226444.3 - 2 192 c.80G>A c.(79-81)tGg>tAg p.W27* NM_005420.2 NP_005411.1 P49888 ST1E1_HUMAN sulfotransferase family 1E, estrogen-preferring, member 1 27 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 CACATTATCCCAATATTTGAC 0.343000 4 56 0 0 1 0 0 FBXL2 25827 broad.mit.edu 37 3 33415072 33415072 + Translation_Start_Site SNP A A T TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 c9a09595-df86-4d5d-a085-8acb85b0e05e g.chr3:33415072A>T ENST00000542085.1 + 0 669 FBXL2_ENST00000446237.3_De_novo_Start_OutOfFrame|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000538892.1_Intron|FBXL2_ENST00000538181.1_Missense_Mutation_p.E69V|FBXL2_ENST00000507198.1_Intron|FBXL2_ENST00000484457.1_Missense_Mutation_p.E153V Q9UKC9 FBXL2_HUMAN F-box and leucine-rich repeat protein 2 interspecies interaction between organisms|proteolysis cytoplasm|membrane protein binding|ubiquitin-protein ligase activity endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1) 15 TCTCTCAGTGAGGGCTGCCGA 0.488000 3 40 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 c9a09595-df86-4d5d-a085-8acb85b0e05e g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 3 75 0 0 1 0 0 CD101 9398 broad.mit.edu 37 1 117560956 117560956 + Missense_Mutation SNP C C A TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 c9a09595-df86-4d5d-a085-8acb85b0e05e g.chr1:117560956C>A ENST00000256652.4 + 6 1849 c.1791C>A c.(1789-1791)caC>caA p.H597Q CD101_ENST00000369470.1_Missense_Mutation_p.H597Q NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4 NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2 Q93033 IGSF2_HUMAN CD101 molecule 597 Ig-like C2-type 5. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GAATCACCCACAATGGCACTA 0.498000 3 49 1 1 1 1 0 MYH7 4625 broad.mit.edu 37 14 23887583 23887583 + Silent SNP C C T rs144465613 byFrequency TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 c9a09595-df86-4d5d-a085-8acb85b0e05e g.chr14:23887583C>T ENST00000355349.3 - 30 4167 c.4005G>A c.(4003-4005)tcG>tcA p.S1335S NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335S(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATGCCGGGCCGACTGCAGTG 0.662000 3 48 0 0 1 0 0 SPSB3 90864 broad.mit.edu 37 16 1828487 1828487 + Silent SNP G G A TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 c9a09595-df86-4d5d-a085-8acb85b0e05e g.chr16:1828487G>A ENST00000566339.1 - 3 583 c.253C>T c.(253-255)Ctg>Ttg p.L85L SPSB3_ENST00000301717.4_Silent_p.L85L NM_080861.3 NP_543137.2 Q6PJ21 SPSB3_HUMAN splA/ryanodine receptor domain and SOCS box containing 3 85 B30.2/SPRY. intracellular signal transduction endometrium(1)|kidney(4)|lung(3)|prostate(2) 10 GCCGAGTGCAGGCTGCTACAG 0.701000 6 45 0 0 1 0 0 UBE2NL 389898 broad.mit.edu 37 X 142967413 142967413 + Missense_Mutation SNP C C T TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 c9a09595-df86-4d5d-a085-8acb85b0e05e g.chrX:142967413C>T ENST00000370494.1 + 1 241 c.211C>T c.(211-213)Cgt>Tgt p.R71C NM_001012989.1 NP_001013007.1 Q5JXB2 UE2NL_HUMAN ubiquitin-conjugating enzyme E2N-like 71 acid-amino acid ligase activity p.R71G(1) breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(192;6.56e-05) CCCTAAAGTACGTTTCATGAC 0.423000 10 84 0 0 1 0 0 RALGAPB 57148 broad.mit.edu 37 20 37168499 37168499 + Silent SNP G G A TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 c9a09595-df86-4d5d-a085-8acb85b0e05e g.chr20:37168499G>A ENST00000262879.6 + 17 2744 c.2460G>A c.(2458-2460)cgG>cgA p.R820R RALGAPB_ENST00000397038.1_Silent_p.R598R|RALGAPB_ENST00000397040.1_Silent_p.R820R|RALGAPB_ENST00000397042.3_Silent_p.R816R Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 820 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 AGTGTAGTCGGCCAGCTCCTT 0.483000 3 51 0 0 1 0 0 ABCB11 8647 broad.mit.edu 37 2 169791766 169791766 + Missense_Mutation SNP G G A TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 c9a09595-df86-4d5d-a085-8acb85b0e05e g.chr2:169791766G>A ENST00000263817.6 - 23 3108 c.2984C>T c.(2983-2985)gCg>gTg p.A995V NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 995 ABC transmembrane type-1 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism p.A995V(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) AGCAGAATTCGCAATAAACAT 0.448000 9 89 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 c9a09595-df86-4d5d-a085-8acb85b0e05e g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 4 36 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 c9a09595-df86-4d5d-a085-8acb85b0e05e 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 7 41 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58299387 58299387 + Nonsense_Mutation SNP C C T TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 c9a09595-df86-4d5d-a085-8acb85b0e05e g.chr13:58299387C>T ENST00000377918.3 + 4 3465 c.3439C>T c.(3439-3441)Caa>Taa p.Q1147* NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 1147 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) TAAGCTTTTGCAAGACTGCCG 0.443000 18 139 0 0 1 0 0 SULT1E1 6783 broad.mit.edu 37 4 70723283 70723283 + Nonsense_Mutation SNP C C T TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-11A-12D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 2d89bc5a-baa3-4ef2-81a2-62ed2e60c685 g.chr4:70723283C>T ENST00000226444.3 - 2 192 c.80G>A c.(79-81)tGg>tAg p.W27* NM_005420.2 NP_005411.1 P49888 ST1E1_HUMAN sulfotransferase family 1E, estrogen-preferring, member 1 27 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 CACATTATCCCAATATTTGAC 0.343000 4 56 0 0 1 0 0 FBXL2 25827 broad.mit.edu 37 3 33415072 33415072 + Translation_Start_Site SNP A A T TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-11A-12D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 2d89bc5a-baa3-4ef2-81a2-62ed2e60c685 g.chr3:33415072A>T ENST00000542085.1 + 0 669 FBXL2_ENST00000538892.1_Intron|FBXL2_ENST00000538181.1_Missense_Mutation_p.E69V|FBXL2_ENST00000507198.1_Intron|FBXL2_ENST00000484457.1_Missense_Mutation_p.E153V|FBXL2_ENST00000446237.3_De_novo_Start_OutOfFrame|FBXL2_ENST00000283627.6_3'UTR Q9UKC9 FBXL2_HUMAN F-box and leucine-rich repeat protein 2 interspecies interaction between organisms|proteolysis cytoplasm|membrane protein binding|ubiquitin-protein ligase activity endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1) 15 TCTCTCAGTGAGGGCTGCCGA 0.488000 3 40 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-11A-12D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 2d89bc5a-baa3-4ef2-81a2-62ed2e60c685 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 4 41 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-11A-12D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 2d89bc5a-baa3-4ef2-81a2-62ed2e60c685 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 48 0 0 1 0 0 CD101 9398 broad.mit.edu 37 1 117560956 117560956 + Missense_Mutation SNP C C A TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-11A-12D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 2d89bc5a-baa3-4ef2-81a2-62ed2e60c685 g.chr1:117560956C>A ENST00000256652.4 + 6 1849 c.1791C>A c.(1789-1791)caC>caA p.H597Q CD101_ENST00000369470.1_Missense_Mutation_p.H597Q NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4 NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2 Q93033 IGSF2_HUMAN CD101 molecule 597 Ig-like C2-type 5. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GAATCACCCACAATGGCACTA 0.498000 3 49 1 1 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-11A-12D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 2d89bc5a-baa3-4ef2-81a2-62ed2e60c685 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR 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 9 53 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713944 142713944 + RNA SNP C C T TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-11A-12D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 2d89bc5a-baa3-4ef2-81a2-62ed2e60c685 g.chr1:142713944C>T ENST00000369381.2 - 0 661 TGATTACCTCCGAAGTTAAAG 0.308000 3 12 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-11A-12D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 2d89bc5a-baa3-4ef2-81a2-62ed2e60c685 g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 3 10 0 0 1 0 0 SPSB3 90864 broad.mit.edu 37 16 1828487 1828487 + Silent SNP G G A TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-11A-12D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 2d89bc5a-baa3-4ef2-81a2-62ed2e60c685 g.chr16:1828487G>A ENST00000566339.1 - 3 583 c.253C>T c.(253-255)Ctg>Ttg p.L85L SPSB3_ENST00000301717.4_Silent_p.L85L NM_080861.3 NP_543137.2 Q6PJ21 SPSB3_HUMAN splA/ryanodine receptor domain and SOCS box containing 3 85 B30.2/SPRY. intracellular signal transduction endometrium(1)|kidney(4)|lung(3)|prostate(2) 10 GCCGAGTGCAGGCTGCTACAG 0.701000 6 45 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-11A-12D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 2d89bc5a-baa3-4ef2-81a2-62ed2e60c685 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 5 20 0 0 1 0 0 UBE2NL 389898 broad.mit.edu 37 X 142967413 142967413 + Missense_Mutation SNP C C T TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-11A-12D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 2d89bc5a-baa3-4ef2-81a2-62ed2e60c685 g.chrX:142967413C>T ENST00000370494.1 + 1 241 c.211C>T c.(211-213)Cgt>Tgt p.R71C NM_001012989.1 NP_001013007.1 Q5JXB2 UE2NL_HUMAN ubiquitin-conjugating enzyme E2N-like 71 acid-amino acid ligase activity p.R71G(1) breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(192;6.56e-05) CCCTAAAGTACGTTTCATGAC 0.423000 10 84 0 0 1 0 0 RALGAPB 57148 broad.mit.edu 37 20 37168499 37168499 + Silent SNP G G A TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-11A-12D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 2d89bc5a-baa3-4ef2-81a2-62ed2e60c685 g.chr20:37168499G>A ENST00000262879.6 + 17 2744 c.2460G>A c.(2458-2460)cgG>cgA p.R820R RALGAPB_ENST00000397042.3_Silent_p.R816R|RALGAPB_ENST00000397038.1_Silent_p.R598R|RALGAPB_ENST00000397040.1_Silent_p.R820R Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 820 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 AGTGTAGTCGGCCAGCTCCTT 0.483000 3 51 0 0 1 0 0 ABCB11 8647 broad.mit.edu 37 2 169791766 169791766 + Missense_Mutation SNP G G A TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-11A-12D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 2d89bc5a-baa3-4ef2-81a2-62ed2e60c685 g.chr2:169791766G>A ENST00000263817.6 - 23 3108 c.2984C>T c.(2983-2985)gCg>gTg p.A995V NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 995 ABC transmembrane type-1 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism p.A995V(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) AGCAGAATTCGCAATAAACAT 0.448000 9 89 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-11A-12D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 2d89bc5a-baa3-4ef2-81a2-62ed2e60c685 g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 4 36 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-11A-12D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 2d89bc5a-baa3-4ef2-81a2-62ed2e60c685 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 7 41 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58299387 58299387 + Nonsense_Mutation SNP C C T TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-11A-12D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 2d89bc5a-baa3-4ef2-81a2-62ed2e60c685 g.chr13:58299387C>T ENST00000377918.3 + 4 3465 c.3439C>T c.(3439-3441)Caa>Taa p.Q1147* NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 1147 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) TAAGCTTTTGCAAGACTGCCG 0.443000 18 139 0 0 1 0 0 C17orf82 388407 broad.mit.edu 37 17 59489871 59489877 + Frame_Shift_Del DEL GGCCTCG GGCCTCG - TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 c9a09595-df86-4d5d-a085-8acb85b0e05e g.chr17:59489871_59489877delGGCCTCG ENST00000335108.2 + 1 760_766 c.535_541delGGCCTCG c.(535-543)ggfs p.GLG179fs NM_203425.1 NP_982249.1 Q86X59 CQ082_HUMAN chromosome 17 open reading frame 82 179 cervix(1)|lung(1) 2 AGCCCGCCCAGGCCTCGGGCCTCGGCA 0.734 3 4 --- --- --- --- RP11-25I15.2 0 broad.mit.edu 37 12 43072603 43072603 + RNA DEL T T - TCGA-FY-A3TY-01A-11D-A22Z-08 TCGA-FY-A3TY-11A-12D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx f84ece22-b5e5-4f7b-ad54-1f0d5c782a06 2d89bc5a-baa3-4ef2-81a2-62ed2e60c685 g.chr12:43072603delT ENST00000548764.1 + 0 465 AGAACTCTGCttttttttttt 0.413 5 2 --- --- --- ---