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 FLG 2312 broad.mit.edu 37 1 152285714 152285714 + Missense_Mutation SNP T T C TCGA-FY-A3R8-01A-11D-A21Z-08 TCGA-FY-A3R8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6894f5-6dc1-4d7f-8002-209b443ccedf 2a402e31-c85e-4bf9-8e25-0087ab122642 g.chr1:152285714T>C ENST00000368799.1 - 3 1683 c.1648A>G c.(1648-1650)Aca>Gca p.T550A FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 550 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCTGGGATGTGGTGTGGCTG 0.567000 Ichthyosis 56 315 0 0 1 0 0 SLC2A5 6518 broad.mit.edu 37 1 9117665 9117665 + Silent SNP G G C TCGA-FY-A3R8-01A-11D-A21Z-08 TCGA-FY-A3R8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6894f5-6dc1-4d7f-8002-209b443ccedf 2a402e31-c85e-4bf9-8e25-0087ab122642 g.chr1:9117665G>C ENST00000377424.4 - 3 314 c.135C>G c.(133-135)ctC>ctG p.L45L SLC2A5_ENST00000535586.1_Intron|SLC2A5_ENST00000377414.3_Silent_p.L45L NM_003039.2 NP_003030.1 P22732 GTR5_HUMAN solute carrier family 2 (facilitated glucose/fructose transporter), member 5 45 carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 36 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) ATTGTTGCATGAGCTAGGAGA 0.423000 13 16 0 0 1 0 0 DCLRE1A 9937 broad.mit.edu 37 10 115595057 115595057 + Missense_Mutation SNP C C T TCGA-FY-A3R8-01A-11D-A21Z-08 TCGA-FY-A3R8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6894f5-6dc1-4d7f-8002-209b443ccedf 2a402e31-c85e-4bf9-8e25-0087ab122642 g.chr10:115595057C>T ENST00000361384.2 - 9 3894 c.2977G>A c.(2977-2979)Gaa>Aaa p.E993K DCLRE1A_ENST00000369305.1_Missense_Mutation_p.E993K NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 993 cell division|mitosis nucleus hydrolase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) CTGCTGTGTTCACTGTAAGGA 0.353000 Other identified genes with known or suspected DNA repair function 6 34 0 0 1 0 0 PAQR6 79957 broad.mit.edu 37 1 156215632 156215632 + Missense_Mutation SNP G G T TCGA-FY-A3R8-01A-11D-A21Z-08 TCGA-FY-A3R8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6894f5-6dc1-4d7f-8002-209b443ccedf 2a402e31-c85e-4bf9-8e25-0087ab122642 g.chr1:156215632G>T ENST00000335852.1 - 3 623 c.8C>A c.(7-9)cCc>cAc p.P3H PAQR6_ENST00000360733.2_Missense_Mutation_p.P3H|PAQR6_ENST00000540423.1_Missense_Mutation_p.P106H|PAQR6_ENST00000292291.5_Missense_Mutation_p.P109H|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000368270.1_Missense_Mutation_p.P85H|PAQR6_ENST00000356983.2_Missense_Mutation_p.P3H NM_024897.2 NP_079173.2 Q6TCH4 PAQR6_HUMAN progestin and adipoQ receptor family member VI 109 integral to membrane receptor activity lung(4)|ovary(1) 5 Hepatocellular(266;0.158) GCGCATGCGGGGCGACATGGA 0.697000 3 7 0.004672 0.00486667 1 1 0 AKR7L 246181 broad.mit.edu 37 1 19597040 19597040 + RNA SNP C C T rs114623957 by1000genomes TCGA-FY-A3R8-01A-11D-A21Z-08 TCGA-FY-A3R8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6894f5-6dc1-4d7f-8002-209b443ccedf 2a402e31-c85e-4bf9-8e25-0087ab122642 g.chr1:19597040C>T ENST00000420396.2 - 0 411 AKR7L_ENST00000429712.1_RNA aldo-keto reductase family 7-like breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1) 6 CCAAGCTCCACGAACTTGCCC 0.617000 3 40 0 0 1 0 0 LGR4 55366 broad.mit.edu 37 11 27390293 27390293 + Silent SNP G G A TCGA-FY-A3R8-01A-11D-A21Z-08 TCGA-FY-A3R8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6894f5-6dc1-4d7f-8002-209b443ccedf 2a402e31-c85e-4bf9-8e25-0087ab122642 g.chr11:27390293G>A ENST00000379214.4 - 18 2420 c.1977C>T c.(1975-1977)ctC>ctT p.L659L LGR4_ENST00000389858.4_Silent_p.L635L NM_018490.2 NP_060960.2 Q9BXB1 LGR4_HUMAN leucine-rich repeat containing G protein-coupled receptor 4 659 integral to membrane|plasma membrane protein-hormone receptor activity NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1) 32 GGAACTGTTTGAGATGATTGC 0.413000 13 62 0 0 1 0 0 KRTAP24-1 643803 broad.mit.edu 37 21 31654786 31654786 + Silent SNP A A G TCGA-FY-A3R8-01A-11D-A21Z-08 TCGA-FY-A3R8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6894f5-6dc1-4d7f-8002-209b443ccedf 2a402e31-c85e-4bf9-8e25-0087ab122642 g.chr21:31654786A>G ENST00000340345.4 - 1 490 c.465T>C c.(463-465)ctT>ctC p.L155L NM_001085455.1 NP_001078924.1 Q3LI83 KR241_HUMAN keratin associated protein 24-1 155 keratin filament structural molecule activity breast(1)|large_intestine(3)|lung(7)|urinary_tract(3) 14 ATAAGCAGTTAAGTTGTCCAA 0.458000 6 89 0 0 1 0 0 MRAP2 112609 broad.mit.edu 37 6 84799015 84799015 + Nonsense_Mutation SNP C C T TCGA-FY-A3R8-01A-11D-A21Z-08 TCGA-FY-A3R8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6894f5-6dc1-4d7f-8002-209b443ccedf 2a402e31-c85e-4bf9-8e25-0087ab122642 g.chr6:84799015C>T ENST00000257776.4 + 4 568 c.433C>T c.(433-435)Cag>Tag p.Q145* NM_138409.2 NP_612418.2 Q96G30 MRAP2_HUMAN melanocortin 2 receptor accessory protein 2 145 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 19 CGTCCAACTCCAGGAAGCCAT 0.522000 25 25 0 0 1 0 0 RYK 6259 broad.mit.edu 37 3 133894572 133894572 + Missense_Mutation SNP G G C TCGA-FY-A3R8-01A-11D-A21Z-08 TCGA-FY-A3R8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6894f5-6dc1-4d7f-8002-209b443ccedf 2a402e31-c85e-4bf9-8e25-0087ab122642 g.chr3:133894572G>C ENST00000427044.2 - 14 1499 c.889C>G c.(889-891)Ctc>Gtc p.L297V RYK_ENST00000296084.4_Missense_Mutation_p.L487V P34925 RYK_HUMAN receptor-like tyrosine kinase 483 corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway cytoplasm|integral to plasma membrane|nucleus ATP binding|transmembrane receptor protein tyrosine kinase activity lung(1)|ovary(3) 4 TCTCTGGAGAGGGCATTGTCT 0.408000 10 60 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5239340 5239340 + Missense_Mutation SNP C C A TCGA-FY-A3R8-01A-11D-A21Z-08 TCGA-FY-A3R8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6894f5-6dc1-4d7f-8002-209b443ccedf 2a402e31-c85e-4bf9-8e25-0087ab122642 g.chr5:5239340C>A ENST00000274181.7 + 15 2369 c.2231C>A c.(2230-2232)gCc>gAc p.A744D NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 744 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 AATAACTCAGCCTGCACGATT 0.522000 23 83 2.50493e-22 3.13116e-22 1 1 0 OPCML 4978 broad.mit.edu 37 11 132812836 132812836 + Missense_Mutation SNP T T C TCGA-FY-A3R8-01A-11D-A21Z-08 TCGA-FY-A3R8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6894f5-6dc1-4d7f-8002-209b443ccedf 2a402e31-c85e-4bf9-8e25-0087ab122642 g.chr11:132812836T>C ENST00000331898.7 - 1 730 c.152A>G c.(151-153)gAg>gGg p.E51G OPCML_ENST00000524381.1_Missense_Mutation_p.E44G|OPCML_ENST00000529038.1_Intron|OPCML_ENST00000374778.4_Missense_Mutation_p.E10G|OPCML_ENST00000541867.1_Missense_Mutation_p.E51G NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 51 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) GGTGGCGCTCTCCCCCTGCCG 0.667000 3 31 0 0 1 0 0 CORIN 10699 broad.mit.edu 37 4 47644047 47644047 + Silent SNP C C A TCGA-FY-A3R8-01A-11D-A21Z-08 TCGA-FY-A3R8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6894f5-6dc1-4d7f-8002-209b443ccedf 2a402e31-c85e-4bf9-8e25-0087ab122642 g.chr4:47644047C>A ENST00000273857.4 - 16 2087 c.2088G>T c.(2086-2088)gtG>gtT p.V696V CORIN_ENST00000502252.1_Silent_p.V629V|CORIN_ENST00000505909.1_Silent_p.V659V|CORIN_ENST00000508498.1_Silent_p.V557V NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 696 SRCR. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 AAGAGGAGTTCACATTTATAG 0.448000 9 31 2.80697e-09 3.18974e-09 1 1 0 TUBB8P7 0 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-FY-A3R8-01A-11D-A21Z-08 TCGA-FY-A3R8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6894f5-6dc1-4d7f-8002-209b443ccedf 2a402e31-c85e-4bf9-8e25-0087ab122642 g.chr16:90161902A>G ENST00000567960.1 + 0 638 TUBB8P7_ENST00000564451.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 6 21 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139662001 139662001 + Silent SNP A A G TCGA-FY-A3R8-01A-11D-A21Z-08 TCGA-FY-A3R8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6894f5-6dc1-4d7f-8002-209b443ccedf 2a402e31-c85e-4bf9-8e25-0087ab122642 g.chr8:139662001A>G ENST00000303045.6 - 46 3800 c.3354T>C c.(3352-3354)ccT>ccC p.P1118P COL22A1_ENST00000435777.1_Silent_p.P1098P|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1118 Collagen-like 10.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGGGGCCAGGAGGGCAGTCAT 0.527000 HNSCC(7;0.00092) 5 29 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-FY-A3R8-01A-11D-A21Z-08 TCGA-FY-A3R8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6894f5-6dc1-4d7f-8002-209b443ccedf 2a402e31-c85e-4bf9-8e25-0087ab122642 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 47 0 0 1 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98416610 98416610 + Missense_Mutation SNP G G A TCGA-FY-A3R8-01A-11D-A21Z-08 TCGA-FY-A3R8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6894f5-6dc1-4d7f-8002-209b443ccedf 2a402e31-c85e-4bf9-8e25-0087ab122642 g.chr10:98416610G>A ENST00000339364.5 - 3 631 c.512C>T c.(511-513)aCg>aTg p.T171M PIK3AP1_ENST00000371110.2_De_novo_Start_InFrame|PIK3AP1_ENST00000468783.1_5'UTR NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 171 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) TGAAGTCACCGTCGGCAGGTT 0.577000 4 63 0 0 1 0 0 BMP3 651 broad.mit.edu 37 4 81967362 81967362 + Missense_Mutation SNP C C T TCGA-FY-A3R8-01A-11D-A21Z-08 TCGA-FY-A3R8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6894f5-6dc1-4d7f-8002-209b443ccedf 2a402e31-c85e-4bf9-8e25-0087ab122642 g.chr4:81967362C>T ENST00000282701.2 + 2 1107 c.787C>T c.(787-789)Cgg>Tgg p.R263W NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 263 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 ACAGGGACACCGGAATTTTCC 0.498000 4 59 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FY-A3R8-01A-11D-A21Z-08 TCGA-FY-A3R8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6894f5-6dc1-4d7f-8002-209b443ccedf 2a402e31-c85e-4bf9-8e25-0087ab122642 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 53 0 0 1 0 0 ZNF488 118738 broad.mit.edu 37 10 48371510 48371510 + Missense_Mutation SNP C C G TCGA-FY-A3R8-01A-11D-A21Z-08 TCGA-FY-A3R8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6894f5-6dc1-4d7f-8002-209b443ccedf 2a402e31-c85e-4bf9-8e25-0087ab122642 g.chr10:48371510C>G ENST00000395702.2 + 2 1205 c.978C>G c.(976-978)ttC>ttG p.F326L ZNF488_ENST00000586537.1_Missense_Mutation_p.F219L|ZNF488_ENST00000494156.1_3'UTR Q96MN9 ZN488_HUMAN zinc finger protein 488 326 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 AGGAGCACTTCCGGGAGCGCC 0.622000 14 71 0 0 1 0 0 FGD1 2245 broad.mit.edu 37 X 54492189 54492189 + Missense_Mutation SNP C C A TCGA-FY-A3R8-01A-11D-A21Z-08 TCGA-FY-A3R8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6894f5-6dc1-4d7f-8002-209b443ccedf 2a402e31-c85e-4bf9-8e25-0087ab122642 g.chrX:54492189C>A ENST00000375135.3 - 7 2170 c.1437G>T c.(1435-1437)gaG>gaT p.E479D NM_004463.2 NP_004454.2 P98174 FGD1_HUMAN FYVE, RhoGEF and PH domain containing 1 479 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 TGTTGACCAGCTCCACGGCCC 0.547000 13 24 3.03607e-14 3.61437e-14 1 1 0 ITIH1 3697 broad.mit.edu 37 3 52820397 52820397 + Frame_Shift_Del DEL C C - TCGA-FY-A3R8-01A-11D-A21Z-08 TCGA-FY-A3R8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6894f5-6dc1-4d7f-8002-209b443ccedf 2a402e31-c85e-4bf9-8e25-0087ab122642 g.chr3:52820397delC ENST00000273283.2 + 13 1704 c.1680delC c.(1678-1680)aafs p.N560fs ITIH1_ENST00000542827.1_Frame_Shift_Del_p.N560fs|ITIH1_ENST00000540715.1_Frame_Shift_Del_p.N418fs|ITIH1_ENST00000537050.1_Frame_Shift_Del_p.N272fs NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 560 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) TGCTGGAGAACCACGTCGAGC 0.602 4 2 --- --- --- --- SOBP 55084 broad.mit.edu 37 6 107854783 107854784 + Frame_Shift_Ins INS - - CTGCCGA TCGA-FY-A3R8-01A-11D-A21Z-08 TCGA-FY-A3R8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6894f5-6dc1-4d7f-8002-209b443ccedf 2a402e31-c85e-4bf9-8e25-0087ab122642 g.chr6:107854783_107854784insCTGCCGA ENST00000317357.5 + 4 1201_1202 c.542_543insCTGCCGA c.(541-543)gtgfs p.V181fs NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 181 metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) TGCTTTGCGGCCTGCCGACGAG 0.559 15 90 --- --- --- --- ATP8B5P 0 broad.mit.edu 37 9 35450411 35450411 + RNA DEL T T - TCGA-FY-A3R8-01A-11D-A21Z-08 TCGA-FY-A3R8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6894f5-6dc1-4d7f-8002-209b443ccedf 2a402e31-c85e-4bf9-8e25-0087ab122642 g.chr9:35450411delT ENST00000430846.1 + 0 3261 TGACTTGAGGTTTTTTTTTCC 0.343 2 4 --- --- --- --- NRXN2 9379 broad.mit.edu 37 11 64375285 64375286 + Frame_Shift_Ins INS - - G TCGA-FY-A3R8-01A-11D-A21Z-08 TCGA-FY-A3R8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f6894f5-6dc1-4d7f-8002-209b443ccedf 2a402e31-c85e-4bf9-8e25-0087ab122642 g.chr11:64375285_64375286insG ENST00000265459.6 - 23 4982_4983 c.4521_4522insC c.(4519-4524)cccggafs p.G1508fs NRXN2_ENST00000409571.1_Frame_Shift_Ins_p.G1501fs|NRXN2_ENST00000377551.1_Frame_Shift_Ins_p.G1508fs|NRXN2_ENST00000301894.2_Frame_Shift_Ins_p.G462fs|NRXN2_ENST00000377559.3_Frame_Shift_Ins_p.G1438fs NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 1508 cell adhesion integral to membrane metal ion binding p.T1508fs*82(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 TCGTCGTCCGTGGGGGGGAGGC 0.693 2 4 --- --- --- ---