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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut KDM3A 55818 broad.mit.edu 37 2 86712974 86712974 + Missense_Mutation SNP A C C TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr2:86712974A>C uc002sri.4 + 20 3632 c.3305A>C c.(3304-3306)aAt>aCt p.N1102T KDM3A_uc010ytj.2_Missense_Mutation_p.N1102T|KDM3A_uc010ytk.2_Missense_Mutation_p.N1050T NM_018433 NP_060903 Q9Y4C1 KDM3A_HUMAN Homo sapiens lysine (K)-specific demethylase 3A (KDM3A), transcript variant 1, mRNA. 1102 JmjC. androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 47 AAGATGTATAATGCTTATGGT 0.433000 27 25 0 0 1 0 0 ARHGAP22 58504 broad.mit.edu 37 10 49791036 49791036 + Missense_Mutation SNP G T T TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr10:49791036G>T uc001jgu.3 - 1 493 c.196C>A c.(196-198)Ctt>Att p.L66I ARHGAP22_uc001jgt.3_Missense_Mutation_p.L66I|ARHGAP22_uc010qgl.2_Missense_Mutation_p.L66I|ARHGAP22_uc010qgm.2_Missense_Mutation_p.L72I|ARHGAP22_uc001jgv.3_5'UTR NM_021226 NP_067049 Q7Z5H3 RHG22_HUMAN Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA. 66 PH. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TAGTAGAAAAGCTGATCCCCA 0.587000 19 53 2.29192e-23 2.35068e-23 1 1 0 KCNQ5 56479 broad.mit.edu 37 6 73902341 73902341 + Missense_Mutation SNP A T T TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr6:73902341A>T uc011dyh.2 + 13 2167 c.1820A>T c.(1819-1821)gAg>gTg p.E607V KCNQ5_uc011dyi.2_Missense_Mutation_p.E598V|KCNQ5_uc010kat.3_Missense_Mutation_p.E579V|KCNQ5_uc003pgk.3_Missense_Mutation_p.E588V|KCNQ5_uc011dyj.2_Missense_Mutation_p.E478V|KCNQ5_uc011dyk.2_Missense_Mutation_p.E338V NM_001160133 NP_001153605 Q9NR82 KCNQ5_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA. 588 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) AAGAGCCGAGAGAAAATAACA 0.438000 37 15 0 0 1 0 0 NPTX2 4885 broad.mit.edu 37 7 98254234 98254234 + Splice_Site SNP G A A TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr7:98254234G>A uc003upl.2 + 3 821 c.644_splice c.e3-1 p.G215_splice NM_002523 NP_002514 P47972 NPTX2_HUMAN Homo sapiens neuronal pentraxin II (NPTX2), mRNA. 215 synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) CAACCCCCAGGCAATAGCGCC 0.582000 345 32 0 0 1 0 0 TBX1 6899 broad.mit.edu 37 22 19752610 19752610 + Missense_Mutation SNP G C C TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr22:19752610G>C uc002zqa.1 + 5 943 c.814G>C c.(814-816)Gcg>Ccg p.A272P TBX1_uc002zqb.3_Missense_Mutation_p.A272P|TBX1_uc002zqc.3_Missense_Mutation_p.A272P NM_080647 NP_542378 O43435 TBX1_HUMAN Homo sapiens T-box 1 (TBX1), transcript variant C, mRNA. 272 embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development nucleus protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|lung(3)|ovary(2) 8 Colorectal(54;0.0993) all_lung(157;3.05e-06) ACGATTCACCGCGGTCACTGC 0.547000 48 39 0 0 1 0 0 ERI3 79033 broad.mit.edu 37 1 44804931 44804931 + Missense_Mutation SNP G A A TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr1:44804931G>A uc001clt.3 - 2 516 c.275C>T c.(274-276)tCg>tTg p.S92L ERI3_uc010okv.2_Intron|ERI3_uc010okw.2_Missense_Mutation_p.S14L NM_024066 NP_076971 O43414 ERI3_HUMAN Homo sapiens ERI1 exoribonuclease family member 3 (ERI3), mRNA. 92 intracellular exonuclease activity|metal ion binding|nucleic acid binding endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 AAGTAAATACGAAGAAAATCG 0.428000 148 13 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 402407 402407 + Missense_Mutation SNP T C C TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr10:402407T>C uc001ifp.3 - 23 3034 c.2944A>G c.(2944-2946)Acc>Gcc p.T982A DIP2C_uc009xhi.1_Missense_Mutation_p.T368A|DIP2C_uc010pzz.1_Missense_Mutation_p.T303A NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA. 982 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) TCCGGGGTGGTCTGTGCTCTC 0.622000 25 22 0 0 1 0 0 ZNF438 220929 broad.mit.edu 37 10 31137649 31137649 + Missense_Mutation SNP C A A TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr10:31137649C>A uc010qdz.2 - 6 2120 c.1685G>T c.(1684-1686)cGt>cTt p.R562L ZNF438_uc001ivn.3_Missense_Mutation_p.R513L|ZNF438_uc010qdy.2_Missense_Mutation_p.R552L|ZNF438_uc001ivo.4_Missense_Mutation_p.R126L|ZNF438_uc009xlg.3_Missense_Mutation_p.R562L|ZNF438_uc001ivp.4_Missense_Mutation_p.R552L|ZNF438_uc010qea.2_Missense_Mutation_p.R562L|ZNF438_uc010qeb.2_Missense_Mutation_p.R562L|ZNF438_uc010qec.1_Missense_Mutation_p.R126L NM_182755 NP_001137241 Q7Z4V0 ZN438_HUMAN Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA. 562 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) TTTCTTCAGACGGTTCTCACC 0.473000 28 84 2.84431e-33 2.99401e-33 1 1 0 PDCL3 79031 broad.mit.edu 37 2 101192933 101192933 + Missense_Mutation SNP G A A TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr2:101192933G>A uc002tao.2 + 5 807 c.695G>A c.(694-696)aGg>aAg p.R232K NM_024065 NP_076970 Q9H2J4 PDCL3_HUMAN Homo sapiens phosducin-like 3 (PDCL3), mRNA. 232 apoptosis|interspecies interaction between organisms cytoplasm protein binding endometrium(3)|large_intestine(2)|liver(1)|lung(6) 12 CTCATGAAGAGGGACAGCGAT 0.463000 44 8 0 0 1 0 0 MST1P2 11209 broad.mit.edu 37 1 16975489 16975489 + RNA SNP C G G rs79648786 by1000genomes TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr1:16975489C>G uc010och.2 + 8 c.1770C>G MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA. AGTCAGCTTGCGGAATTGGTG 0.607000 28 3 0 0 1 0 0 MAP2K2 5605 broad.mit.edu 37 19 4110574 4110574 + Missense_Mutation SNP G A A TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr19:4110574G>A uc002lzk.3 - 2 637 c.383C>T c.(382-384)cCg>cTg p.P128L NM_030662 NP_109587 P36507 MP2K2_HUMAN Homo sapiens mitogen-activated protein kinase kinase 2 (MAP2K2), mRNA. 128 Protein kinase. ERK1 and ERK2 cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|extracellular region ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) CACGATGTACGGCGAGTTGCA 0.622000 58 7 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82586188 82586188 + Missense_Mutation SNP T A A TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr7:82586188T>A uc003uhx.2 - 4 4370 c.4081A>T c.(4081-4083)Agc>Tgc p.S1361C PCLO_uc003uhv.2_Missense_Mutation_p.S1361C NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 1292 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CCCGTGTCGCTCAGACCTTGG 0.413000 24 26 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106790987 106790987 + RNA SNP A G G TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr14:106790987A>G uc021ser.1 - 619 c.17405T>C Parts of antibodies, mostly variable regions. GCGCACAATGACTTCCCCTCA 0.572000 16 3 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 78130980 78130980 + Silent SNP A C C TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr7:78130980A>C uc003ugx.3 - 4 1133 c.879T>G c.(877-879)acT>acG p.T293T MAGI2_uc003ugy.3_Silent_p.T293T|MAGI2_uc011kgr.1_Silent_p.T125T|MAGI2_uc011kgs.1_Silent_p.T130T NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA. 293 cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CTTCAGGTTTAGTTGGCTTTG 0.512000 121 8 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 46 58 0 0 1 0 0 GGA3 23163 broad.mit.edu 37 17 73234405 73234405 + Silent SNP G A A TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr17:73234405G>A uc002jni.2 - 16 2166 c.2127C>T c.(2125-2127)ggC>ggT p.G709G GGA3_uc002jnk.2_Silent_p.G637G|GGA3_uc002jnj.2_Silent_p.G676G|GGA3_uc010wry.2_Silent_p.G637G|GGA3_uc010wrw.2_Intron|GGA3_uc010wrx.2_Silent_p.G587G NM_138619 NP_619525 Q9NZ52 GGA3_HUMAN Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 3 (GGA3), transcript variant long, mRNA. 709 GAE. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding p.G709G(2) breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 20 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) GGTCCACCTCGCCCACCTCTG 0.617000 OREG0024729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 21 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58139274 58139274 + Silent SNP C T T TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr3:58139274C>T uc003djj.2 + 38 6705 c.6540C>T c.(6538-6540)ccC>ccT p.P2180P FLNB_uc010hne.2_Silent_p.P2211P|FLNB_uc003djk.2_Silent_p.P2169P|FLNB_uc010hnf.2_Silent_p.P2156P|FLNB_uc003djl.2_Silent_p.P2000P|FLNB_uc003djm.2_Silent_p.P1987P|FLNB_uc010hng.1_Non-coding_Transcript NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 2180 Interaction with FLNA 1.|Interaction with INPPL1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CCGGCAGCCCCTTCCAGTTCA 0.662000 28 16 0 0 1 0 0 CTTN 2017 broad.mit.edu 37 11 70275168 70275168 + Missense_Mutation SNP A G G TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr11:70275168A>G uc001opv.4 + 13 1245 c.1039A>G c.(1039-1041)Aca>Gca p.T347A CTTN_uc001opu.3_Missense_Mutation_p.T310A|CTTN_uc001opw.4_Missense_Mutation_p.T310A|CTTN_uc010rqm.2_Missense_Mutation_p.T31A|CTTN_uc001opx.3_Missense_Mutation_p.T31A NM_005231 NP_005222 Q14247 SRC8_HUMAN Homo sapiens cortactin (CTTN), transcript variant 1, mRNA. 347 cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) GACCAGCAAAACAAGTAACAT 0.557000 143 8 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113233760 113233760 + Missense_Mutation SNP G A A TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr9:113233760G>A uc010mtz.3 - 15 3219 c.2882C>T c.(2881-2883)cCc>cTc p.P961L SVEP1_uc010mua.1_Missense_Mutation_p.P961L NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 961 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GGAATACATGGGGTCTTTGTT 0.413000 23 3 0 0 1 0 0 TMPRSS4 56649 broad.mit.edu 37 11 117969706 117969706 + Missense_Mutation SNP A G G TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr11:117969706A>G uc021qrd.1 + 2 341 c.50A>G c.(49-51)aAa>aGa p.K17R TMPRSS4_uc009yzu.3_Non-coding_Transcript|TMPRSS4_uc021qre.1_Missense_Mutation_p.K17R|TMPRSS4_uc010rxo.2_Missense_Mutation_p.K15R|TMPRSS4_uc010rxs.2_Intron|TMPRSS4_uc010rxq.2_5'UTR|TMPRSS4_uc010rxr.2_5'UTR|TMPRSS4_uc010rxt.2_5'UTR NM_019894 NP_063947 Q9NRS4 TMPS4_HUMAN Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA. 17 proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) GCAGATGTCAAACCCCTGCGC 0.552000 36 16 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4832476 4832476 + Missense_Mutation SNP G A A TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr1:4832476G>A uc001alm.1 + 3 1435 c.1054G>A c.(1054-1056)Gag>Aag p.E352K AJAP1_uc001aln.3_Missense_Mutation_p.E352K NM_001042478 NP_061324 Q9UKB5 AJAP1_HUMAN Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA. 352 Targeting signals. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) GGCCTATAACGAGACCCTGCA 0.597000 19 16 0 0 1 0 0 ADRA1D 146 broad.mit.edu 37 20 4228499 4228499 + Missense_Mutation SNP G C C TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr20:4228499G>C uc002wkr.2 - 0 1161 c.1106C>G c.(1105-1107)cCg>cGg p.P369R NM_000678 NP_000669 P25100 ADA1D_HUMAN Homo sapiens adrenergic, alpha-1D-, receptor (ADRA1D), mRNA. 369 DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|cell proliferation|cell-cell signaling|multicellular organismal development|positive regulation of cell proliferation integral to plasma membrane alpha1-adrenergic receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 14 Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162) CTCACCGAGCGGCAGGACAAA 0.632000 7 6 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41516542 41516542 + Missense_Mutation SNP G T T TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr21:41516542G>T uc002yyq.1 - 16 3587 c.3135C>A c.(3133-3135)gaC>gaA p.D1045E DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 1045 Fibronectin type-III 2. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AAACCTCACTGTCCCCGCTGG 0.527000 71 7 0.00198382 0.00198382 1 1 0 SND1 27044 broad.mit.edu 37 7 127341216 127341216 + Splice_Site SNP G T T rs112325317 TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr7:127341216G>T uc003vmi.3 + 5 655 c.429_splice c.e5-1 p.N143_splice NM_014390 NP_055205 Q7KZF4 SND1_HUMAN Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA. 143 TNase-like 1. gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent RNA-induced silencing complex|melanosome|nucleus nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 TTATGTCCCAGTCCTGAGCAG 0.453000 114 53 1.33152e-38 1.43948e-38 1 1 0 SRSF2 6427 broad.mit.edu 37 17 74732464 74732464 + Missense_Mutation SNP A G G TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr17:74732464A>G uc002jsy.4 - 1 696 c.445T>C c.(445-447)Tct>Cct p.S149P SRSF2_uc010wtg.2_Missense_Mutation_p.S137P|SRSF2_uc002jsv.3_Missense_Mutation_p.S149P|SRSF2_uc002jsw.2_Non-coding_Transcript|MFSD11_uc002jsz.1_Non-coding_Transcript|MFSD11_uc002jta.2_5'UTR|MFSD11_uc002jtd.4_5'Flank|MFSD11_uc002jtb.3_5'Flank|MFSD11_uc002jtc.3_5'Flank|MFSD11_uc002jte.3_5'Flank|MFSD11_uc010dhb.3_5'Flank|MFSD11_uc010dha.3_5'Flank NM_001195427 NP_001182356 Q01130 SRSF2_HUMAN Homo sapiens serine/arginine-rich splicing factor 2 (SRSF2), transcript variant 2, mRNA. 149 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck RNA binding|nucleotide binding|protein binding|transcription corepressor activity haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2) 329 CGGGACCGAGACTTCGAGCGG 0.657000 Mis """MDS, CLL""" 33 32 0 0 1 0 0 GSX2 170825 broad.mit.edu 37 4 54968017 54968017 + Silent SNP C T T rs146677175 byFrequency TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr4:54968017C>T uc010igp.1 + 1 1107 c.843C>T c.(841-843)taC>taT p.Y281Y PDGFRA_uc003haa.3_Intron NM_133267 NP_573574 Q9BZM3 GSX2_HUMAN Homo sapiens GS homeobox 2 (GSX2), mRNA. 281 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(2)|lung(2) 6 all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147) LUSC - Lung squamous cell carcinoma(32;0.00216) AGGTGCACTACGCGCGCTCCG 0.632000 38 18 0 0 1 0 0 HEATR2 54919 broad.mit.edu 37 7 814759 814759 + Silent SNP C T T TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr7:814759C>T uc010krz.1 + 10 2219 c.2199C>T c.(2197-2199)ggC>ggT p.G733G HEATR2_uc003siz.2_Silent_p.G601G|HEATR2_uc003sjb.2_Silent_p.G113G|HEATR2_uc003sjc.2_Silent_p.G158G NM_017802 NP_060272 Q86Y56 HEAT2_HUMAN Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA. 733 protein binding p.T731_S732insFLKT(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) AAACCTCGGGCGGCATGACGG 0.512000 OREG0017814|OREG0026740 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 69 5 0 0 1 0 0 MESDC2 23184 broad.mit.edu 37 15 81282101 81282101 + Missense_Mutation SNP A C C TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr15:81282101A>C uc002bfy.1 - 0 105 c.32T>G c.(31-33)gTg>gGg p.V11G MESDC2_uc002bfx.3_Non-coding_Transcript|MESDC2_uc010uno.2_Non-coding_Transcript NM_015154 NP_055969 Q14696 MESD_HUMAN Homo sapiens mesoderm development candidate 2 (MESDC2), mRNA. 11 Chaperone domain (By similarity). Wnt receptor signaling pathway|mesoderm development|protein folding endoplasmic reticulum cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1) 8 AAGCAGGACCACGGCCTTGCG 0.711000 12 8 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152279828 152279828 + Missense_Mutation SNP T G G TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr1:152279828T>G uc001ezu.1 - 2 7570 c.7534A>C c.(7534-7536)Agt>Cgt p.S2512R NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 2512 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) CTGCTTGCACTTCTGGATCCT 0.562000 Ichthyosis 759 26 0 0 1 0 0 HDGFL1 154150 broad.mit.edu 37 6 22570346 22570347 + In_Frame_Ins INS - GGC GGC TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr6:22570346_22570347insGGC uc003nds.3 + 0 669_670 c.542_543insGGC c.(541-543)agg>agGGCg p.188_189insA NM_138574 NP_612641 Q5TGJ6 HDGL1_HUMAN Homo sapiens hepatoma derived growth factor-like 1 (HDGFL1), mRNA. 188 Ala-rich.|Glu-rich. kidney(1)|large_intestine(3)|lung(7) 11 Ovarian(93;0.163) gaagcggagagggcggcggcgg 0.767 --- 3 --- --- 3 --- ZMYM5 9205 broad.mit.edu 37 13 20426143 20426145 + In_Frame_Del DEL CAT - - TCGA-D9-A4Z2-01A-11D-A24R-08 TCGA-D9-A4Z2-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a5a972a-239c-4822-859b-0a8b766d0549 8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89 g.chr13:20426143_20426145delCAT uc010tcn.1 - 2 441_443 c.176_178delATG c.(175-180)gatgtt>gtt p.D59del ZMYM5_uc001umm.1_5'UTR|ZMYM5_uc001umn.3_In_Frame_Del_p.D59del|ZMYM5_uc001umo.3_In_Frame_Del_p.D59del NM_001142684 NP_001136156 Q9UJ78 ZMYM5_HUMAN Homo sapiens zinc finger, MYM-type 5 (ZMYM5), transcript variant 3, mRNA. 59 Poly-Asp. nucleus zinc ion binding kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) ATAAACACAAcatcatcatcatc 0.379 --- 211 --- --- 7 ---