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 MLLT1 4298 broad.mit.edu 37 19 6213134 6213134 + Silent SNP G G A TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr19:6213134G>A uc002mek.3 - 11 1763 c.1599C>T c.(1597-1599)acC>acT p.T533T NM_005934 NP_005925 Q03111 ENL_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA. 533 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2) 17 AGTCGAAGGTGGTGTTGGTGA 0.627000 T MLL AL 40 89 0 0 1 0 0 ZBTB26 57684 broad.mit.edu 37 9 125681791 125681791 + Silent SNP T T C TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr9:125681791T>C uc004bnj.3 - 1 635 c.423A>G c.(421-423)ccA>ccG p.P141P ZBTB26_uc004bnk.3_Silent_p.P141P|ZBTB26_uc022bnc.1_Silent_p.P141P NM_020924 NP_065975 Q9HCK0 ZBT26_HUMAN Homo sapiens zinc finger and BTB domain containing 26 (ZBTB26), mRNA. 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1) 11 AAGCACTCTGTGGTTCACATC 0.468000 16 83 0 0 1 0 0 POU2F1 5451 broad.mit.edu 37 1 167367336 167367336 + Missense_Mutation SNP A A G TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr1:167367336A>G uc001gee.3 + 10 1304 c.1235A>G c.(1234-1236)aAc>aGc p.N412S POU2F1_uc001gec.3_Missense_Mutation_p.N389S|POU2F1_uc010plh.2_Missense_Mutation_p.N349S|POU2F1_uc001ged.3_Missense_Mutation_p.N387S|POU2F1_uc001gef.3_Missense_Mutation_p.N401S|POU2F1_uc001geg.3_Missense_Mutation_p.N287S|POU2F1_uc009wvg.1_5'Flank NM_002697 NP_002688 P14859 PO2F1_HUMAN Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 1, mRNA. 389 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 ATAGAGACCAACATCCGTGTG 0.468000 3 69 0 0 1 0 0 FUT9 10690 broad.mit.edu 37 6 96651640 96651640 + Silent SNP C C G TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr6:96651640C>G uc003pop.4 + 2 950 c.609C>G c.(607-609)gtC>gtG p.V203V FUT9_uc021zcw.1_Silent_p.V203V NM_006581 NP_006572 Q9Y231 FUT9_HUMAN Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA. 203 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) ATGCCAGAGTCAAGTATTACA 0.408000 15 30 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc 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 27 49 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72984519 72984519 + Missense_Mutation SNP C C T TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr16:72984519C>T uc002fck.3 - 2 3738 c.3065G>A c.(3064-3066)gGc>gAc p.G1022D ZFHX3_uc002fcl.3_Missense_Mutation_p.G108D NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 1022 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GTTGGCCTTGCCGCCCTCCTT 0.592000 3 47 0 0 1 0 0 OR8K5 219453 broad.mit.edu 37 11 55927551 55927551 + Silent SNP C C T TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr11:55927551C>T uc010rja.2 - 0 243 c.243G>A c.(241-243)gtG>gtA p.V81V NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA. 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) AATTTGCCAGCACCTTGGGAC 0.383000 5 70 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32015637 32015637 + Missense_Mutation SNP G G A TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr6:32015637G>A uc003nzl.2 - 29 10394 c.10192C>T c.(10192-10194)Ccg>Tcg p.P3398S TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 3445 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding p.P3465S(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GCTGCCACCGGCACCACCTGG 0.617000 3 32 0 0 1 0 0 KIAA1522 57648 broad.mit.edu 37 1 33236588 33236588 + Missense_Mutation SNP C C G TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr1:33236588C>G uc001bvu.1 + 5 1852 c.1808C>G c.(1807-1809)gCt>gGt p.A603G KIAA1522_uc010ohm.1_Missense_Mutation_p.A555G|KIAA1522_uc001bvv.2_Missense_Mutation_p.A544G|KIAA1522_uc010ohn.1_Intron NM_020888 NP_065939 Q9P206 K1522_HUMAN Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA. 544 Pro-rich. p.P602S(1) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) GGTCCCCCTGCTTCCCCAGGC 0.642000 6 66 0 0 1 0 0 FCGR2B 2213 broad.mit.edu 37 1 161641233 161641233 + Missense_Mutation SNP T T C TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr1:161641233T>C uc001gaz.2 + 2 312 c.185T>C c.(184-186)cTc>cCc p.L62P FCGR2B_uc009wum.2_Missense_Mutation_p.L62P|FCGR2B_uc001gay.2_Missense_Mutation_p.L61P|FCGR2B_uc001gba.2_Missense_Mutation_p.L61P|FCGR2B_uc009wun.2_Missense_Mutation_p.L55P|FCGR2B_uc001gbb.2_Missense_Mutation_p.L62P NM_004001 NP_003992 P31994 FCG2B_HUMAN Homo sapiens Fc fragment of IgG, low affinity IIb, receptor (CD32) (FCGR2B), transcript variant 1, mRNA. 62 Ig-like C2-type 1. immune response|interspecies interaction between organisms|regulation of immune response integral to membrane|plasma membrane IgG binding|receptor activity all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ATCAACGTGCTCCAGGAGGAC 0.587000 T ? ALL 21 29 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71495163 71495163 + Missense_Mutation SNP C C T TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr5:71495163C>T uc003kbw.4 + 4 6222 c.5981C>T c.(5980-5982)tCt>tTt p.S1994F MAP1B_uc010iyw.1_Missense_Mutation_p.S2011F|MAP1B_uc010iyx.1_Missense_Mutation_p.S1868F|MAP1B_uc010iyy.1_Missense_Mutation_p.S1868F NM_005909 NP_005900 P46821 MAP1B_HUMAN Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA. 1994 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) TATGATGACTCTGAGGATGGT 0.483000 8 228 0 0 1 0 0 OR4N5 390437 broad.mit.edu 37 14 20612492 20612492 + Missense_Mutation SNP G G T rs147549956 TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr14:20612492G>T uc010tla.2 + 0 598 c.598G>T c.(598-600)Gtc>Ttc p.V200F NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA. 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) GCTTCTGATGGTCTCCAACAG 0.537000 7 96 0 0 1 0 0 WDR47 22911 broad.mit.edu 37 1 109544904 109544904 + Missense_Mutation SNP C C G TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr1:109544904C>G uc001dwl.3 - 6 1775 c.1399G>C c.(1399-1401)Gtg>Ctg p.V467L WDR47_uc001dwi.3_Missense_Mutation_p.V460L|WDR47_uc001dwj.3_Missense_Mutation_p.V459L|WDR47_uc001dwk.2_Missense_Mutation_p.V431L|WDR47_uc010ovf.2_Missense_Mutation_p.V386L NM_001142550 NP_001136022 O94967 WDR47_HUMAN Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA. 459 Gln-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) TCCTGATTCACGCCTCCTTCA 0.383000 10 128 0 0 1 0 0 FRMPD3 84443 broad.mit.edu 37 X 106844382 106844382 + Missense_Mutation SNP C C T TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chrX:106844382C>T uc022cce.1 + 0 748 c.380C>T c.(379-381)aCa>aTa p.T127I Q5JV73 FRPD3_HUMAN Homo sapiens mRNA for KIAA1817 protein, partial cds. 1071 PDZ. cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 AGAGCACCCACAGGCAGCCGG 0.527000 20 34 0 0 1 0 0 MEF2C 4208 broad.mit.edu 37 5 88047813 88047813 + Silent SNP G G C TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr5:88047813G>C uc003kjl.3 - 6 933 c.504C>G c.(502-504)tcC>tcG p.S168S MEF2C_uc021ybg.1_Silent_p.S102S|MEF2C_uc021ybh.1_Silent_p.S102S|MEF2C_uc003kji.2_Silent_p.S150S|MEF2C_uc003kjj.3_Silent_p.S150S|MEF2C_uc003kjk.3_Silent_p.S150S|MEF2C_uc003kjm.3_Silent_p.S148S NM_001193347 NP_001180276 Q06413 MEF2C_HUMAN Homo sapiens myocyte enhancer factor 2C (MEF2C), transcript variant 3, mRNA. 150 Ser-rich. B cell proliferation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|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 nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 40 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) TGTTGTGGCTGGACACTGGGA 0.478000 HNSCC(66;0.2) 32 70 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53092728 53092728 + Silent SNP C C T TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr8:53092728C>T uc003xqz.2 - 3 387 c.231G>A c.(229-231)agG>agA p.R77R ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.R42R|ST18_uc011lds.1_5'UTR|ST18_uc003xra.2_Silent_p.R77R|ST18_uc003xrb.2_Silent_p.R77R|ST18_uc010lyb.2_Non-coding_Transcript NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 77 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CGTCCTCTGTCCTGTCACTGC 0.542000 36 175 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10295952 10295952 + Silent SNP A A T TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr17:10295952A>T uc002gmm.2 - 37 5570 c.5475T>A c.(5473-5475)ctT>ctA p.L1825L AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 1825 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CCTCTCCTTCAAGCTCACGTA 0.463000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 7 159 0 0 1 0 0 RYK 6259 broad.mit.edu 37 3 133928660 133928661 + Frame_Shift_Del DEL CT CT - TCGA-DJ-A2Q7-01A-11D-A18F-08 TCGA-DJ-A2Q7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4087812a-31ba-4faf-af39-856e381fb72f 89780c79-339d-4931-b8ab-00a091735abc g.chr3:133928660_133928661delCT uc003eqc.1 - 4 553_554 c.455_456delAG c.(454-456)gagfs p.E152fs RYK_uc003eqd.1_Frame_Shift_Del_p.E152fs NM_001005861 NP_001005861 P34925 RYK_HUMAN Homo sapiens RYK receptor-like tyrosine kinase (RYK), transcript variant 1, mRNA. 153 WIF. Wnt receptor signaling pathway|corpus callosum development|positive regulation of MAPKKK cascade cytoplasm|integral to plasma membrane|nucleus ATP binding|transmembrane receptor protein tyrosine kinase activity lung(1)|ovary(3) 4 TACAGGAAAGCTCTACCCGAAA 0.272 2 4 --- --- --- ---