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 GPC1 2817 broad.mit.edu 37 2 241402796 241402796 + Silent SNP C C G TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr2:241402796C>G uc002vyw.4 + 3 971 c.750C>G c.(748-750)gtC>gtG p.V250V NM_002081 NP_002072 P35052 GPC1_HUMAN Homo sapiens glypican 1 (GPC1), mRNA. 250 axon guidance anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 9 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949) CGAGAGCTGTCATGAAGCTGG 0.682000 9 78 0 0 1 0 0 RHOT2 89941 broad.mit.edu 37 16 720708 720708 + Missense_Mutation SNP A A G TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr16:720708A>G uc002cip.3 + 8 691 c.574A>G c.(574-576)Atc>Gtc p.I192V RHOT2_uc002ciq.3_Missense_Mutation_p.I85V|RHOT2_uc010bqy.3_5'Flank NM_138769 NP_620124 Q8IXI1 MIRO2_HUMAN Homo sapiens ras homolog gene family, member T2 (RHOT2), nuclear gene encoding mitochondrial protein, mRNA. 192 EF-hand 1. apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane GTP binding|GTPase activity|calcium ion binding|protein binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1) 13 Hepatocellular(780;0.0218) GCTGACGCGCATCTTCAGGCT 0.682000 9 91 0 0 1 0 0 DNAAF2 55172 broad.mit.edu 37 14 50100226 50100226 + Missense_Mutation SNP G G A TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr14:50100226G>A uc001wws.4 - 0 1723 c.1642C>T c.(1642-1644)Ctt>Ttt p.L548F NEMF_uc010anj.1_Intron|DNAAF2_uc001wwt.4_Missense_Mutation_p.L548F NM_018139 NP_060609 Q9NVR5 KTU_HUMAN Homo sapiens dynein, axonemal, assembly factor 2 (DNAAF2), transcript variant 1, mRNA. 548 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm kidney(1)|lung(4) 5 TCTCCTTGAAGACTTTGCGGC 0.458000 4 33 0 0 1 0 0 FTO 79068 broad.mit.edu 37 16 53968001 53968001 + Silent SNP G G A TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr16:53968001G>A uc002ehr.3 + 7 1566 c.1344G>A c.(1342-1344)ctG>ctA p.L448L FTO_uc010vha.2_Silent_p.L152L|FTO_uc010cbz.3_Silent_p.L49L|FTO_uc002ehs.3_Non-coding_Transcript NM_001080432 NP_001073901 Q9C0B1 FTO_HUMAN Homo sapiens fat mass and obesity associated (FTO), mRNA. 448 DNA dealkylation involved in DNA repair|RNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation nucleus DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 GCCAGAACCTGAGGAGAGAAT 0.478000 7 39 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 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 23 56 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79593779 79593779 + Silent SNP C C G TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr10:79593779C>G uc001jzk.3 - 8 1711 c.1641G>C c.(1639-1641)ctG>ctC p.L547L DLG5_uc001jzj.3_Silent_p.L302L|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Silent_p.L151L NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA. 547 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) GCTCCCGCCTCAGGTTGTCAC 0.632000 3 22 0 0 1 0 0 CTCF 10664 broad.mit.edu 37 16 67663378 67663378 + Missense_Mutation SNP G G C TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr16:67663378G>C uc002etl.3 + 9 2223 c.1779G>C c.(1777-1779)aaG>aaC p.K593N CTCF_uc010cek.3_Missense_Mutation_p.K265N|CTCF_uc002etm.1_Missense_Mutation_p.K82N NM_006565 NP_001177951 P49711 CTCF_HUMAN Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA. 593 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) AAACGAAGAAGAGTAAACGTG 0.423000 4 50 0 0 1 0 0 SCG3 29106 broad.mit.edu 37 15 51984517 51984517 + Silent SNP G G A TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr15:51984517G>A uc002abh.3 + 6 1255 c.852G>A c.(850-852)ctG>ctA p.L284L SCG3_uc010ufz.2_Silent_p.L52L NM_013243 NP_001158729 Q8WXD2 SCG3_HUMAN Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA. 284 platelet activation|platelet degranulation extracellular region|stored secretory granule breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) ATGCGCTACTGAAAAGTATTG 0.383000 7 76 0 0 1 0 0 MPV17 4358 broad.mit.edu 37 2 27535568 27535568 + Silent SNP C C T TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr2:27535568C>T uc002rjr.3 - 2 305 c.258G>A c.(256-258)ctG>ctA p.L86L MPV17_uc002rjs.3_Silent_p.L86L|MPV17_uc002rjt.3_Non-coding_Transcript NM_002437 NP_002428 P39210 MPV17_HUMAN Homo sapiens MpV17 mitochondrial inner membrane protein (MPV17), nuclear gene encoding mitochondrial protein, mRNA. 86 cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process integral to peroxisomal membrane|mitochondrial inner membrane lung(4) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACATCTTCTTCAGTGCATCCA 0.527000 5 43 0 0 1 0 0 LYZL6 57151 broad.mit.edu 37 17 34264854 34264854 + Missense_Mutation SNP C C G TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr17:34264854C>G uc002hkj.2 - 1 406 c.206G>C c.(205-207)aGc>aCc p.S69T LYZL6_uc002hkk.2_Missense_Mutation_p.S69T NM_020426 NP_065159 O75951 LYZL6_HUMAN Homo sapiens lysozyme-like 6 (LYZL6), transcript variant 2, mRNA. 69 cell wall macromolecule catabolic process extracellular region lysozyme activity breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1) 12 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ATAGTCAAAGCTTCCATCTGC 0.448000 8 46 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418953 105418953 + Silent SNP C C G TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr14:105418953C>G uc010axc.1 - 6 2955 c.2835G>C c.(2833-2835)ctG>ctC p.L945L AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.L845L NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 945 nucleus p.L945L(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGGGGCCTTTCAGGTCCAGCT 0.602000 22 186 0 0 1 0 0 ARAP3 64411 broad.mit.edu 37 5 141039378 141039378 + Missense_Mutation SNP C C G TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr5:141039378C>G uc003llm.3 - 21 3313 c.3235G>C c.(3235-3237)Gag>Cag p.E1079Q ARAP3_uc003lll.3_Missense_Mutation_p.E30Q|ARAP3_uc011dbe.2_Missense_Mutation_p.E741Q|ARAP3_uc003lln.3_Missense_Mutation_p.E910Q NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA. 1079 Rho-GAP. cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 TCAATGAGCTCTTGCAGCACT 0.567000 3 19 0 0 1 0 0 PPP1R21 129285 broad.mit.edu 37 2 48725770 48725770 + Nonsense_Mutation SNP C C T TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr2:48725770C>T uc002rwm.3 + 16 2016 c.1831C>T c.(1831-1833)Cag>Tag p.Q611* PPP1R21_uc002rwl.3_Nonsense_Mutation_p.Q565*|PPP1R21_uc002rwk.3_Nonsense_Mutation_p.Q611*|PPP1R21_uc010yok.2_Nonsense_Mutation_p.Q580* NM_001135629 NP_001129101 Q6ZMI0 KLRAQ_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 21 (PPP1R21), transcript variant 1, mRNA. 611 endometrium(2)|kidney(4)|lung(9) 15 AGGTAGTGCCCAGCTGGTTGG 0.483000 3 34 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37173962 37173962 + Silent SNP A A C TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr5:37173962A>C uc011cpa.1 - 31 6297 c.6066T>G c.(6064-6066)gcT>gcG p.A2022A C5orf42_uc011coy.1_Silent_p.A522A|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.A1097A|C5orf42_uc003jkr.1_Silent_p.A55A NM_023073 NP_075561 E9PH94 E9PH94_HUMAN Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA. 2022 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) GAGGTGTTGGAGCAGGTGGTT 0.423000 10 61 0 0 1 0 0 MGMT 4255 broad.mit.edu 37 10 131506231 131506231 + Silent SNP G G A TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr10:131506231G>A uc001lkh.2 + 2 317 c.291G>A c.(289-291)ctG>ctA p.L97L NM_002412 NP_002403 B4DEE8 B4DEE8_HUMAN Homo sapiens O-6-methylguanine-DNA methyltransferase (MGMT), mRNA. 97 breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 10 all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167) OV - Ovarian serous cystadenocarcinoma(35;0.00291) CAGCCTGGCTGAATGCCTATT 0.602000 Direct reversal of damage 7 64 0 0 1 0 0 UQCRC2 7385 broad.mit.edu 37 16 21974204 21974204 + Missense_Mutation SNP C C T TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr16:21974204C>T uc002djx.3 + 5 648 c.512C>T c.(511-513)aCt>aTt p.T171I UQCRC2_uc002djz.1_Missense_Mutation_p.T38I NM_003366 NP_003357 P22695 QCR2_HUMAN Homo sapiens ubiquinol-cytochrome c reductase core protein II (UQCRC2), nuclear gene encoding mitochondrial protein, mRNA. 171 aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1) 15 GBM - Glioblastoma multiforme(48;0.0264) AATCCGCAGACTCGTAAGTAC 0.373000 11 43 0 0 1 0 0 CHST2 9435 broad.mit.edu 37 3 142840198 142840198 + Silent SNP C C T TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr3:142840198C>T uc003evm.3 + 1 1479 c.540C>T c.(538-540)ttC>ttT p.F180F CHST2_uc021xex.1_Silent_p.F180F NM_004267 NP_004258 Q9Y4C5 CHST2_HUMAN Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA. 180 N-acetylglucosamine metabolic process|inflammatory response|multicellular organismal development|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 CGTCGTTCTTCGGCGAGCTAT 0.622000 5 56 0 0 1 0 0 FNIP2 57600 broad.mit.edu 37 4 159789776 159789776 + Nonsense_Mutation SNP C C G TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr4:159789776C>G uc003iqe.4 + 12 2171 c.1988C>G c.(1987-1989)tCa>tGa p.S663* NM_020840 NP_065891 Q9P278 FNIP2_HUMAN Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA. 663 Interaction with PRKAA1. DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) GATGGCTCTTCAAGACTTCCC 0.522000 4 19 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9624844 9624844 + Missense_Mutation SNP C C T TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr20:9624844C>T uc002wnl.2 - 3 678 c.133G>A c.(133-135)Gat>Aat p.D45N PAK7_uc002wnk.2_Missense_Mutation_p.D45N|PAK7_uc002wnj.2_Missense_Mutation_p.D45N|PAK7_uc010gby.1_Missense_Mutation_p.D45N NM_020341 NP_817127 Q9P286 PAK7_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA. 45 Linker. ATP binding|protein binding|protein serine/threonine kinase activity p.A44A(1) NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) TTGGCCGTATCTGCTAACAGG 0.547000 5 42 0 0 1 0 0 FAM117B 150864 broad.mit.edu 37 2 203620264 203620264 + Missense_Mutation SNP C C T TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr2:203620264C>T uc010zhx.2 + 4 974 c.964C>T c.(964-966)Cct>Tct p.P322S NM_173511 NP_775782 Q6P1L5 F117B_HUMAN Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA. 322 breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1) 17 TCTTAAGGCTCCTGTTCCAAA 0.398000 9 132 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54784371 54784371 + Silent SNP A A G TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chrX:54784371A>G uc004dtj.2 - 7 2166 c.2136T>C c.(2134-2136)gaT>gaC p.D712D NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA. 712 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity AGGTGCCAGAATCCTGTTGTG 0.512000 9 42 0 0 1 0 0 IL12A 3592 broad.mit.edu 37 3 159713292 159713292 + Silent SNP C C T TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr3:159713292C>T uc003fcx.3 + 6 929 c.708C>T c.(706-708)ttC>ttT p.F236F AK097161_uc003fcw.1_Intron NM_000882 NP_000873 P29459 IL12A_HUMAN Homo sapiens interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) (IL12A), mRNA. 202 cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NK T cell activation|positive regulation of T cell mediated cytotoxicity|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of smooth muscle cell apoptosis|positive regulation of tyrosine phosphorylation of Stat4 protein|response to UV-B|response to lipopolysaccharide|response to virus interleukin-12 complex cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity endometrium(3)|kidney(1)|large_intestine(1)|lung(4) 9 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TTCATGCTTTCAGAATTCGGG 0.388000 8 97 0 0 1 0 0 STX1B 112755 broad.mit.edu 37 16 31012260 31012260 + Missense_Mutation SNP G G C TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr16:31012260G>C uc010cad.2 - 3 381 c.269C>G c.(268-270)tCc>tGc p.S90C STX1B_uc010vfd.2_Missense_Mutation_p.S90C NM_052874 NP_443106 P61266 STX1B_HUMAN Homo sapiens syntaxin 1B (STX1B), mRNA. 90 intracellular protein transport|neurotransmitter transport|synaptic transmission integral to plasma membrane SNAP receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|endometrium(1)|large_intestine(5)|lung(5) 13 TTTCAATTTGGACCGAACCTT 0.562000 4 60 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101749591 101749591 + Missense_Mutation SNP C C T TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr9:101749591C>T uc004azb.1 + 3 870 c.664C>T c.(664-666)Ctc>Ttc p.L222F NM_001855 NP_001846 P39059 COFA1_HUMAN Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA. 222 TSP N-terminal. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) CCTCCAGCAGCTCACCGTGCA 0.597000 75 138 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215819926 215819926 + Splice_Site SNP C C T TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr2:215819926C>T uc002vew.3 - 43 6613 c.6393_splice c.e43+1 p.P2131_splice ABCA12_uc002vev.3_Splice_Site_p.P1813_splice|ABCA12_uc010zjn.2_Splice_Site_p.P1058_splice NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 2131 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GGGACCTTACCGGATCATTAG 0.338000 13 28 0 0 1 0 0 ABHD6 57406 broad.mit.edu 37 3 58260481 58260481 + Missense_Mutation SNP C C G TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr3:58260481C>G uc003djs.4 + 5 1030 c.620C>G c.(619-621)cCa>cGa p.P207R ABHD6_uc003djt.4_Missense_Mutation_p.P207R NM_020676 NP_065727 Q9BV23 ABHD6_HUMAN Homo sapiens abhydrolase domain containing 6 (ABHD6), mRNA. 207 integral to membrane acylglycerol lipase activity NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209) CCGTCTACCCCAGAAGAGATG 0.542000 10 104 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44575963 44575963 + Silent SNP C C T TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr7:44575963C>T uc003tlb.3 - 3 1802 c.1746G>A c.(1744-1746)ggG>ggA p.G582G NPC1L1_uc011kbw.2_Silent_p.G582G|NPC1L1_uc003tlc.3_Silent_p.G582G|NPC1L1_uc003tld.3_Silent_p.G582G NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA. 582 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding p.A581T(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) GACGGGGGTCCCCGGCAGGGT 0.572000 5 59 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32747677 32747677 + Silent SNP G G A TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr13:32747677G>A uc001utx.3 + 18 2821 c.2325G>A c.(2323-2325)ggG>ggA p.G775G FRY_uc010tdw.2_Non-coding_Transcript NM_023037 NP_075463 Q5TBA9 FRY_HUMAN Homo sapiens furry homolog (Drosophila) (FRY), mRNA. 775 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TTGCCCTGGGGCAGCCTGAGG 0.383000 7 80 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2552906 2552906 + Silent SNP G G A TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr20:2552906G>A uc002wgf.1 + 4 651 c.636G>A c.(634-636)ctG>ctA p.L212L TMC2_uc002wgg.1_Silent_p.L196L|TMC2_uc010zpw.1_Silent_p.L44L|TMC2_uc010zpx.1_Silent_p.L43L NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN Homo sapiens transmembrane channel-like 2 (TMC2), mRNA. 212 Arg/Asp/Glu/Lys-rich (highly charged). integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 ACAAGATGCTGATGGCCAAGG 0.517000 5 46 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3328631 3328642 + In_Frame_Del DEL GACCTGGACAGC GACCTGGACAGC - TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr1:3328631_3328642delGACCTGGACAGC uc001akf.3 + 8 1952_1963 c.1870_1881delGACCTGGACAGC c.(1870-1881)gacctggacagcdel p.DLDS624del PRDM16_uc001ake.3_In_Frame_Del_p.DLDS624del|PRDM16_uc009vlh.3_In_Frame_Del_p.DLDS325del|PRDM16_uc001akc.3_In_Frame_Del_p.DLDS624del NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA. 624 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding p.D624Y(2)|p.L625M(2)|p.S623S(1) breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GACGGGCTCGGACCTGGACAGCGACGTGGACA 0.679 T EVI1 """MDS, AML""" 32 72 --- --- --- --- SYNPO 11346 broad.mit.edu 37 5 150036179 150036179 + Frame_Shift_Del DEL C C - TCGA-EM-A2OZ-01A-11D-A202-08 TCGA-EM-A2OZ-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abbd8f3-725b-4b0c-b40e-5d86f705e3ef 5d80ef8e-90bc-4f69-80ec-ff3aeb427f92 g.chr5:150036179delC uc003lsp.3 + 2 2784 c.2242delC c.(2242-2244)cccfs p.P748fs NM_007286 NP_009217 Q8N3V7 SYNPO_HUMAN Homo sapiens synaptopodin (SYNPO), transcript variant 1, mRNA. 807 positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2) 18 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CGAGGCGCGGCCCCCCAGCCG 0.756 2 4 --- --- --- ---