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 ANXA3 306 broad.mit.edu 37 4 79517010 79517010 + Silent SNP G G A TCGA-DJ-A2PY-01A-11D-A18F-08 TCGA-DJ-A2PY-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05020be-81ae-4f46-a0d8-3edcc31776ab 9df33b2b-f35b-4f88-b444-68a862b36451 g.chr4:79517010G>A ENST00000264908.6 + 9 982 c.603G>A c.(601-603)ctG>ctA p.L201L ANXA3_ENST00000503570.2_Silent_p.L162L|ANXA3_ENST00000512884.1_Silent_p.L162L NM_005139.2 NP_005130.1 P12429 ANXA3_HUMAN annexin A3 201 defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity phagocytic vesicle membrane|plasma membrane|specific granule calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 CTGAGATCCTGTGTTTAAGGA 0.328000 3 26 0 0 0.004672 0 0 DNM1P47 0 broad.mit.edu 37 15 102296140 102296140 + RNA SNP C C T TCGA-DJ-A2PY-01A-11D-A18F-08 TCGA-DJ-A2PY-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05020be-81ae-4f46-a0d8-3edcc31776ab 9df33b2b-f35b-4f88-b444-68a862b36451 g.chr15:102296140C>T ENST00000561463.1 + 0 4186 GTCCAACCTGCACTCGCGTGG 0.602000 5 4 0 0 0.001168 0 0 FAM98C 147965 broad.mit.edu 37 19 38895653 38895653 + Missense_Mutation SNP G G A TCGA-DJ-A2PY-01A-11D-A18F-08 TCGA-DJ-A2PY-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05020be-81ae-4f46-a0d8-3edcc31776ab 9df33b2b-f35b-4f88-b444-68a862b36451 g.chr19:38895653G>A ENST00000252530.5 + 4 474 c.455G>A c.(454-456)gGc>gAc p.G152D FAM98C_ENST00000585954.1_3'UTR|FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000343358.7_Missense_Mutation_p.G152D NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 152 endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GAGGGAGCCGGCATGGTCCAA 0.652000 4 117 0 0 0.000248 0 0 FMO3 2328 broad.mit.edu 37 1 171079976 171079976 + Missense_Mutation SNP G G A TCGA-DJ-A2PY-01A-11D-A18F-08 TCGA-DJ-A2PY-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05020be-81ae-4f46-a0d8-3edcc31776ab 9df33b2b-f35b-4f88-b444-68a862b36451 g.chr1:171079976G>A ENST00000367755.4 + 6 776 c.665G>A c.(664-666)aGc>aAc p.S222N FMO3_ENST00000542847.1_Missense_Mutation_p.S202N|FMO3_ENST00000538429.1_Missense_Mutation_p.S159N|FMO3_ENST00000392085.2_Missense_Mutation_p.S222N NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 222 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGGGTGATGAGCCGGGTCTGG 0.463000 5 120 0 0 0.001168 0 0 ITGA8 8516 broad.mit.edu 37 10 15655757 15655757 + Silent SNP C C A TCGA-DJ-A2PY-01A-11D-A18F-08 TCGA-DJ-A2PY-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05020be-81ae-4f46-a0d8-3edcc31776ab 9df33b2b-f35b-4f88-b444-68a862b36451 g.chr10:15655757C>A ENST00000378076.3 - 15 1808 c.1455G>T c.(1453-1455)ccG>ccT p.P485P NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 485 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 CAGTCACAACCGGTCTTGCTC 0.463000 25 50 0.000375601 0.000734871 0.002780 1 0 MYOM2 9172 broad.mit.edu 37 8 2046799 2046799 + Missense_Mutation SNP C C T TCGA-DJ-A2PY-01A-11D-A18F-08 TCGA-DJ-A2PY-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05020be-81ae-4f46-a0d8-3edcc31776ab 9df33b2b-f35b-4f88-b444-68a862b36451 g.chr8:2046799C>T ENST00000262113.4 + 19 2567 c.2426C>T c.(2425-2427)aCc>aTc p.T809I MYOM2_ENST00000523438.1_Missense_Mutation_p.T234I NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 809 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) GAGGCCTGGACCATGCCGGAG 0.657000 3 18 0 0 0.004672 0 0 SGK1 6446 broad.mit.edu 37 6 134495197 134495197 + Silent SNP C C T TCGA-DJ-A2PY-01A-11D-A18F-08 TCGA-DJ-A2PY-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05020be-81ae-4f46-a0d8-3edcc31776ab 9df33b2b-f35b-4f88-b444-68a862b36451 g.chr6:134495197C>T ENST00000367858.5 - 5 1056 c.459G>A c.(457-459)ttG>ttA p.L153L SGK1_ENST00000367857.5_Silent_p.L48L|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000237305.7_Silent_p.L58L|SGK1_ENST00000413996.3_Silent_p.L72L|SGK1_ENST00000475719.2_Silent_p.L58L|SGK1_ENST00000528577.1_Silent_p.L86L NM_001143676.1 NP_001137148.1 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 58 Protein kinase. apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity p.L86F(1)|p.L153F(1)|p.L48F(1)|p.L58F(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1) 46 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) GGGAGATCTTCAAGATGGACT 0.498000 30 75 0 0 0.008361 0 0 ARMCX2 9823 broad.mit.edu 37 X 100911291 100911291 + Silent SNP T T C TCGA-DJ-A2PY-01A-11D-A18F-08 TCGA-DJ-A2PY-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05020be-81ae-4f46-a0d8-3edcc31776ab 9df33b2b-f35b-4f88-b444-68a862b36451 g.chrX:100911291T>C ENST00000328766.5 - 5 1737 c.1284A>G c.(1282-1284)ggA>ggG p.G428G ARMCX2_ENST00000356824.4_Silent_p.G428G|ARMCX2_ENST00000330154.2_Silent_p.G428G NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 428 integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 TTGGGAGGCCTCCCAATTTGC 0.388000 3 134 0 0 0.004672 0 0 ST6GALNAC4 27090 broad.mit.edu 37 9 130672244 130672244 + Silent SNP G G A TCGA-DJ-A2PY-01A-11D-A18F-08 TCGA-DJ-A2PY-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05020be-81ae-4f46-a0d8-3edcc31776ab 9df33b2b-f35b-4f88-b444-68a862b36451 g.chr9:130672244G>A ENST00000335791.5 - 5 980 c.705C>T c.(703-705)agC>agT p.S235S ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Silent_p.S151S NM_175039.3 NP_778204.1 Q9H4F1 SIA7D_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 235 glycolipid metabolic process|protein glycosylation integral to Golgi membrane|nucleus|soluble fraction (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity endometrium(1)|large_intestine(2)|lung(2)|prostate(2) 7 AGTAGCTGTCGCTGACCATCC 0.647000 20 21 0 0 0.001882 0 0 GANAB 23193 broad.mit.edu 37 11 62400170 62400170 + Missense_Mutation SNP T T C TCGA-DJ-A2PY-01A-11D-A18F-08 TCGA-DJ-A2PY-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05020be-81ae-4f46-a0d8-3edcc31776ab 9df33b2b-f35b-4f88-b444-68a862b36451 g.chr11:62400170T>C ENST00000346178.4 - 10 944 c.929A>G c.(928-930)gAg>gGg p.E310G GANAB_ENST00000540933.1_Missense_Mutation_p.E191G|GANAB_ENST00000534779.1_Missense_Mutation_p.E196G|GANAB_ENST00000356638.3_Missense_Mutation_p.E288G NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB 288 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 GTTGTACAGCTCATACTGGAA 0.552000 3 208 0 0 0.004672 0 0 SRR 63826 broad.mit.edu 37 17 2224836 2224836 + Splice_Site SNP G G T rs147900333 TCGA-DJ-A2PY-01A-11D-A18F-08 TCGA-DJ-A2PY-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05020be-81ae-4f46-a0d8-3edcc31776ab 9df33b2b-f35b-4f88-b444-68a862b36451 g.chr17:2224836G>T ENST00000344595.5 + 6 838 c.519_splice c.e6-1 p.V174_splice SRR_ENST00000576848.1_Intron NM_021947.1 NP_068766.1 Q9GZT4 SRR_HUMAN serine racemase 174 D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide cytoplasm|neuronal cell body|soluble fraction ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) TTCACTAAAGGTTCCTTTGGT 0.388000 24 37 4.26978e-12 9.14952e-12 0.003330 1 0 VDAC3 7419 broad.mit.edu 37 8 42260882 42260882 + Missense_Mutation SNP T T C TCGA-DJ-A2PY-01A-11D-A18F-08 TCGA-DJ-A2PY-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05020be-81ae-4f46-a0d8-3edcc31776ab 9df33b2b-f35b-4f88-b444-68a862b36451 g.chr8:42260882T>C ENST00000392935.3 + 8 751 c.608T>C c.(607-609)aTt>aCt p.I203T VDAC3_ENST00000022615.4_Missense_Mutation_p.I202T|VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000521158.1_Missense_Mutation_p.I203T NM_001135694.2|NM_005662.6 NP_001129166.1|NP_005653.3 Q9Y277 VDAC3_HUMAN voltage-dependent anion channel 3 202 adenine transport mitochondrial outer membrane|pore complex nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 7 all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024) Dihydroxyaluminium(DB01375) AATGAGAAGATTGAAACATCC 0.398000 3 70 0 0 0.000248 0 0 AP005901.1 0 broad.mit.edu 37 18 15323276 15323276 + RNA SNP A A T TCGA-DJ-A2PY-01A-11D-A18F-08 TCGA-DJ-A2PY-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05020be-81ae-4f46-a0d8-3edcc31776ab 9df33b2b-f35b-4f88-b444-68a862b36451 g.chr18:15323276A>T ENST00000455308.2 - 0 572 NR_027417.1 ATCAACTGCAATTGCATTTGC 0.308000 4 11 0 0 0.001168 0 0 AC011308.1 0 broad.mit.edu 37 2 157352615 157352615 + Splice_Site SNP T T G TCGA-DJ-A2PY-01A-11D-A18F-08 TCGA-DJ-A2PY-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05020be-81ae-4f46-a0d8-3edcc31776ab 9df33b2b-f35b-4f88-b444-68a862b36451 g.chr2:157352615T>G ENST00000601086.1 - 2 23 c.22_splice c.e2-1 p.G8_splice GPD2_ENST00000310454.6_Silent_p.P54P|GPD2_ENST00000409674.1_Silent_p.P54P|GPD2_ENST00000540309.1_Silent_p.P54P|GPD2_ENST00000409125.4_Intron|GPD2_ENST00000438166.2_Silent_p.P54P ACAGGGAGCCTCCTTCCAGAG 0.443000 4 42 0 0 0.000248 0 0 TG 7038 broad.mit.edu 37 8 133895156 133895156 + Missense_Mutation SNP G G T TCGA-DJ-A2PY-01A-11D-A18F-08 TCGA-DJ-A2PY-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05020be-81ae-4f46-a0d8-3edcc31776ab 9df33b2b-f35b-4f88-b444-68a862b36451 g.chr8:133895156G>T ENST00000220616.4 + 8 1027 c.987G>T c.(985-987)caG>caT p.Q329H TG_ENST00000377869.1_Missense_Mutation_p.Q329H NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 329 Thyroglobulin type-1 4. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGGCGGTGCAGTGCCAGACGG 0.597000 3 39 0.00024832 0.000507927 0.000248 1 0 CNGB1 1258 broad.mit.edu 37 16 57921841 57921841 + Missense_Mutation SNP C C T TCGA-DJ-A2PY-01A-11D-A18F-08 TCGA-DJ-A2PY-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05020be-81ae-4f46-a0d8-3edcc31776ab 9df33b2b-f35b-4f88-b444-68a862b36451 g.chr16:57921841C>T ENST00000564448.1 - 32 3422 c.3362G>A c.(3361-3363)gGc>gAc p.G1121D CNGB1_ENST00000251102.8_Missense_Mutation_p.G1127D 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 p.G1127D(1) 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 AGCAAGTTTGCCGCCTTTTGC 0.612000 4 142 0 0 0.000248 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A2PY-01A-11D-A18F-08 TCGA-DJ-A2PY-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05020be-81ae-4f46-a0d8-3edcc31776ab 9df33b2b-f35b-4f88-b444-68a862b36451 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 24 40 0 0 0.002780 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12885289 12885289 + Silent SNP G G T rs148273194 by1000genomes TCGA-DJ-A2PY-01A-11D-A18F-08 TCGA-DJ-A2PY-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05020be-81ae-4f46-a0d8-3edcc31776ab 9df33b2b-f35b-4f88-b444-68a862b36451 g.chr1:12885289G>T ENST00000535591.1 - 4 1017 c.822C>A c.(820-822)ctC>ctA p.L274L NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 274 p.L274L(3) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GGCACTGGGAGAGATGCTTCA 0.458000 6 203 0.00307968 0.0057744 0.003080 1 0 CLSTN1 22883 broad.mit.edu 37 1 9804008 9804008 + Silent SNP G G A TCGA-DJ-A2PY-01A-11D-A18F-08 TCGA-DJ-A2PY-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05020be-81ae-4f46-a0d8-3edcc31776ab 9df33b2b-f35b-4f88-b444-68a862b36451 g.chr1:9804008G>A ENST00000377298.4 - 9 2082 c.1290C>T c.(1288-1290)ctC>ctT p.L430L CLSTN1_ENST00000361311.4_Silent_p.L420L|CLSTN1_ENST00000377288.3_Silent_p.L430L NM_001009566.1 NP_001009566.1 O94985 CSTN1_HUMAN calsyntenin 1 430 homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) CCTGACGGAAGAGGAAGATCA 0.483000 6 110 0 0 0.001168 0 0 STAG3L4 0 broad.mit.edu 37 7 66767610 66767611 + RNA INS - - G rs71293166 by1000genomes TCGA-DJ-A2PY-01A-11D-A18F-08 TCGA-DJ-A2PY-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05020be-81ae-4f46-a0d8-3edcc31776ab 9df33b2b-f35b-4f88-b444-68a862b36451 g.chr7:66767610_66767611insG ENST00000416602.2 + 0 3_4 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) CACCGGACTGCTTTTTTTTTTT 0.545 3 3 --- --- --- --- ARHGAP33 115703 broad.mit.edu 37 19 36276206 36276224 + Frame_Shift_Del DEL GGGGGCACCCGTGCCCCAC GGGGGCACCCGTGCCCCAC - rs145114644 TCGA-DJ-A2PY-01A-11D-A18F-08 TCGA-DJ-A2PY-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05020be-81ae-4f46-a0d8-3edcc31776ab 9df33b2b-f35b-4f88-b444-68a862b36451 g.chr19:36276206_36276224delGGGGGCACCCGTGCCCCAC ENST00000007510.4 + 18 1981_1999 c.1837_1855delGGGGGCACCCGTGCCCCAC c.(1837-1857)cgfs p.GGTRAPP613fs ARHGAP33_ENST00000378944.5_Frame_Shift_Del_p.GGTRAPP477fs|ARHGAP33_ENST00000314737.5_Frame_Shift_Del_p.GGTRAPP613fs O14559 RHG33_HUMAN Rho GTPase activating protein 33 613 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding p.T615T(1) endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 GCCCTGGCTGGGGGGCACCCGTGCCCCACCGCAGCCTTC 0.685 14 37 --- --- --- --- NDUFA6 4700 broad.mit.edu 37 22 42482290 42482293 + Frame_Shift_Del DEL TTAA TTAA - TCGA-DJ-A2PY-01A-11D-A18F-08 TCGA-DJ-A2PY-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05020be-81ae-4f46-a0d8-3edcc31776ab 9df33b2b-f35b-4f88-b444-68a862b36451 g.chr22:42482290_42482293delTTAA ENST00000498737.2 - 3 491_494 c.359_362delTTAA c.(358-363)aafs p.IK120fs NDUFA6_ENST00000470753.1_Frame_Shift_Del_p.IK37fs|NDUFA6_ENST00000602404.1_Frame_Shift_Del_p.IK94fs|SMDT1_ENST00000547929.1_Intron NM_002490.3 NP_002481.2 P56556 NDUA6_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa 120 mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity kidney(1)|lung(3)|upper_aerodigestive_tract(1) 5 NADH(DB00157) CTTCCATACTTTAATTGTTTCTTC 0.451 23 34 --- --- --- ---