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 TTLL7 79739 broad.mit.edu 37 1 84376919 84376919 + Missense_Mutation SNP T T C TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr1:84376919T>C ENST00000260505.8 - 15 2092 c.1715A>G c.(1714-1716)aAt>aGt p.N572S TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 572 cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) TCTTTTCTTATTTTGGTACTC 0.338000 9 51 0 0 0.058154 0 0 KCNS2 3788 broad.mit.edu 37 8 99441073 99441073 + Missense_Mutation SNP A A G TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr8:99441073A>G ENST00000287042.4 + 2 1216 c.866A>G c.(865-867)aAc>aGc p.N289S KCNS2_ENST00000521839.1_Missense_Mutation_p.N289S NM_020697.2 NP_065748.1 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 289 voltage-gated potassium channel complex voltage-gated potassium channel activity autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) ACTTTAGCCAACTTGGGCAGG 0.562000 5 69 0 0 0.014758 0 0 LAMB2 3913 broad.mit.edu 37 3 49169025 49169025 + Missense_Mutation SNP C C A TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr3:49169025C>A ENST00000418109.1 - 6 755 c.591G>T c.(589-591)tgG>tgT p.W197C LAMB2_ENST00000305544.4_Missense_Mutation_p.W197C NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 197 Laminin N-terminal. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CTACATCATCCCAGTGCCGTG 0.592000 5 149 0.00116845 0.00229794 0.021553 1 0 CDH10 1008 broad.mit.edu 37 5 24537754 24537754 + Silent SNP T T A TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr5:24537754T>A ENST00000264463.4 - 3 768 c.261A>T c.(259-261)ggA>ggT p.G87G NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 87 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) ATTTGAGTGATCCATCTCCTT 0.373000 HNSCC(23;0.051) 6 13 0 0 0.021553 0 0 DNAJC16 23341 broad.mit.edu 37 1 15863305 15863305 + Missense_Mutation SNP A A T TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr1:15863305A>T ENST00000375847.3 + 4 734 c.570A>T c.(568-570)gaA>gaT p.E190D DNAJC16_ENST00000375849.1_Missense_Mutation_p.E190D|DNAJC16_ENST00000375838.1_Missense_Mutation_p.E190D NM_015291.2 NP_056106.1 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 190 Thioredoxin. cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) AACTGGAAGAATTGGGTAAGA 0.398000 17 24 0 0 0.146539 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 4 49 0 0 0.009096 0 0 DNAH3 55567 broad.mit.edu 37 16 21170720 21170720 + Missense_Mutation SNP G G A TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr16:21170720G>A ENST00000261383.3 - 1 42 c.43C>T c.(43-45)Ccc>Tcc p.P15S TMEM159_ENST00000572599.1_Intron|TMEM159_ENST00000451578.2_Intron|TMEM159_ENST00000572258.1_Intron|DNAH3_ENST00000415178.1_Missense_Mutation_p.P15S|TMEM159_ENST00000574092.1_Intron|TMEM159_ENST00000261388.3_Intron|TMEM159_ENST00000233047.4_Intron NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 15 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CCCGGATGGGGAGGGGCGGCC 0.622000 48 68 0 0 0.139131 0 0 SEC16A 9919 broad.mit.edu 37 9 139371685 139371685 + Missense_Mutation SNP A A C TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr9:139371685A>C ENST00000313050.7 - 1 456 c.383T>G c.(382-384)tTg>tGg p.L128W NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 2098 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) TGAAGGTGTCAATGCACCAGA 0.567000 37 55 0 0 0.080422 0 0 RYR3 6263 broad.mit.edu 37 15 33962623 33962623 + Missense_Mutation SNP T T G TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr15:33962623T>G ENST00000389232.4 + 38 5796 c.5726T>G c.(5725-5727)gTt>gGt p.V1909G RYR3_ENST00000415757.3_Missense_Mutation_p.V1909G NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1909 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.V1909G(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TTGCTAGGGGTTCCTTTggaa 0.473000 10 26 0 0 0.093190 0 0 DENND5A 23258 broad.mit.edu 37 11 9161345 9161345 + Missense_Mutation SNP T T C TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr11:9161345T>C ENST00000328194.3 - 23 4057 c.3737A>G c.(3736-3738)cAc>cGc p.H1246R DENND5A_ENST00000527700.1_Missense_Mutation_p.H589R|DENND5A_ENST00000530044.1_Missense_Mutation_p.T1235A NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 1246 RUN 2. breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CTCATACATGTGTGCAGTGAT 0.542000 14 25 0 0 0.105934 0 0 NUP93 9688 broad.mit.edu 37 16 56782202 56782202 + Nonsense_Mutation SNP C C T TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr16:56782202C>T ENST00000569842.1 + 2 139 c.43C>T c.(43-45)Cag>Tag p.Q15* NUP93_ENST00000308159.5_Nonsense_Mutation_p.Q15* Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 15 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding p.Q15*(1) breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 GCAAGCTGAACAGCTTGCTGC 0.517000 17 38 0 0 0.038395 0 0 PLXNA4 91584 broad.mit.edu 37 7 131870080 131870080 + Missense_Mutation SNP C C G TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr7:131870080C>G ENST00000359827.3 - 16 4098 c.3136G>C c.(3136-3138)Gag>Cag p.E1046Q PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1046Q Q9HCM2 PLXA4_HUMAN plexin A4 1046 IPT/TIG 3. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CATTCTGGCTCAATCCGCACG 0.547000 3 60 0 0 0.115264 0 0 HTRA3 94031 broad.mit.edu 37 4 8307709 8307709 + Missense_Mutation SNP A A G TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr4:8307709A>G ENST00000307358.2 + 9 1412 c.1208A>G c.(1207-1209)cAa>cGa p.Q403R NM_053044.3 NP_444272.1 P83110 HTRA3_HUMAN HtrA serine peptidase 3 403 PDZ. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1) 18 GGCGGCATCCAAGATGGTGAC 0.647000 3 66 0 0 0.014758 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr16:90161902A>G ENST00000567960.1 + 0 638 TUBB8P7_ENST00000564451.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 3 25 0 0 0.014758 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34826174 34826174 + Missense_Mutation SNP A A G TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr6:34826174A>G ENST00000192788.5 + 14 2212 c.2041A>G c.(2041-2043)Acc>Gcc p.T681A UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.T681A NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 681 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 TCAGCCTAATACCCTCCCTCC 0.488000 4 130 0 0 0.009096 0 0 OR52N4 390072 broad.mit.edu 37 11 5776224 5776224 + Missense_Mutation SNP G G A TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr11:5776224G>A ENST00000317254.3 + 1 302 c.254G>A c.(253-255)tGc>tAc p.C85Y TRIM5_ENST00000380027.1_Intron NM_001005175.2 NP_001005175.3 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene) 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) AAAGCCCTCTGCATCTTCTGG 0.468000 31 37 0 0 0.125774 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 6 45 0 0 0.021553 0 0 CD248 57124 broad.mit.edu 37 11 66082772 66082772 + Missense_Mutation SNP C C A TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr11:66082772C>A ENST00000311330.3 - 1 1743 c.1727G>T c.(1726-1728)aGa>aTa p.R576I RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 576 Pro-rich. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) GGCCTGGGTTCTGAGGACAAG 0.607000 37 48 9.8876e-21 2.01162e-20 0.074837 1 0 CD163 9332 broad.mit.edu 37 12 7651554 7651554 + Missense_Mutation SNP C C T TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr12:7651554C>T ENST00000359156.4 - 4 890 c.688G>A c.(688-690)Gga>Aga p.G230R CD163_ENST00000432237.2_Missense_Mutation_p.G230R|CD163_ENST00000541972.1_Missense_Mutation_p.G218R|CD163_ENST00000396620.3_Missense_Mutation_p.G230R NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 230 SRCR 2. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GACTCATTTCCGTTGCATATA 0.433000 10 183 0 0 0.080935 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 3 52 0 0 0.009096 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 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 19 27 0 0 0.049695 0 0 CWC25 54883 broad.mit.edu 37 17 36959028 36959028 + Missense_Mutation SNP A A G TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr17:36959028A>G ENST00000225428.4 - 9 1385 c.1088T>C c.(1087-1089)cTc>cCc p.L363P CWC25_ENST00000536127.1_Missense_Mutation_p.L300P NM_017748.3 NP_060218.1 Q9NXE8 CWC25_HUMAN CWC25 spliceosome-associated protein homolog (S. cerevisiae) 363 central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 14 ATGCCTCTTGAGGATGTTCAG 0.517000 3 114 0 0 0.115264 0 0 HRNR 388697 broad.mit.edu 37 1 152193154 152193154 + Silent SNP C C G TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr1:152193154C>G ENST00000368801.2 - 3 1026 c.951G>C c.(949-951)ggG>ggC p.G317G FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 317 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGAGGAGTGCCCCGAACCGG 0.612000 3 110 0 0 0.115264 0 0 TPTEP1 0 broad.mit.edu 37 22 17131430 17131432 + RNA DEL CAC CAC - rs142037179 TCGA-DJ-A2Q4-01A-21D-A18F-08 TCGA-DJ-A2Q4-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9aa45da9-1edf-4aa5-914f-6e92a34427e2 7f85393d-8a76-4321-9d4d-788f57266a46 g.chr22:17131430_17131432delCAC ENST00000426585.1 + 0 2456_2458 caccatccatcaccaacagaaac 0.443 4 3 --- --- --- ---