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 SMARCA4 6597 broad.mit.edu 37 19 11143966 11143966 + Splice_Site SNP G G C TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr19:11143966G>C ENST00000358026.2 + 26 3831 c.3546_splice c.e26-1 p.D1183_splice SMARCA4_ENST00000344626.4_Splice_Site_p.D1183_splice|SMARCA4_ENST00000589677.1_Splice_Site_p.D1183_splice|SMARCA4_ENST00000444061.3_Splice_Site_p.D1183_splice|SMARCA4_ENST00000590574.1_Splice_Site_p.D1183_splice|SMARCA4_ENST00000413806.3_Splice_Site_p.D1183_splice|SMARCA4_ENST00000429416.3_Splice_Site_p.D1183_splice|SMARCA4_ENST00000450717.3_Splice_Site_p.D1183_splice|SMARCA4_ENST00000541122.2_Splice_Site_p.D1183_splice NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1183 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) CTTCCCCCAGGACCTGCAAGC 0.627000 """F, N, Mis""" NSCLC 4 65 0 0 1 0 0 LRRC37A16P 0 broad.mit.edu 37 17 66131701 66131701 + RNA SNP T T C rs7222953 by1000genomes TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr17:66131701T>C ENST00000590019.1 - 0 298 CACTGACCAGTTGGCTCGCCT 0.617000 6 72 0 0 1 0 0 TLR3 7098 broad.mit.edu 37 4 187000075 187000075 + Missense_Mutation SNP G G C TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr4:187000075G>C ENST00000296795.2 + 3 627 c.523G>C c.(523-525)Gag>Cag p.E175Q NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 175 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) AAATCTCCAAGAGCTTCTATT 0.313000 23 30 0 0 1 0 0 RAB33B 83452 broad.mit.edu 37 4 140375591 140375591 + Missense_Mutation SNP G G A TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr4:140375591G>A ENST00000305626.5 + 1 631 c.242G>A c.(241-243)cGc>cAc p.R81H NM_031296.1 NP_112586.1 Q9H082 RB33B_HUMAN RAB33B, member RAS oncogene family 81 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 4 all_hematologic(180;0.162) GATGGGGAGCGCATCAAGGTG 0.652000 3 34 0 0 1 0 0 CPT1A 1374 broad.mit.edu 37 11 68542876 68542876 + Nonsense_Mutation SNP G G A TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr11:68542876G>A ENST00000265641.5 - 13 1637 c.1483C>T c.(1483-1485)Cag>Tag p.Q495* CPT1A_ENST00000540367.1_Nonsense_Mutation_p.Q495*|CPT1A_ENST00000539743.1_Nonsense_Mutation_p.Q495*|CPT1A_ENST00000376618.2_Nonsense_Mutation_p.Q495* NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 495 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) TAGCCCAGCTGGAGGCTGTCA 0.483000 51 84 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8131054 8131054 + Missense_Mutation SNP G G A TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr19:8131054G>A ENST00000600128.1 - 64 8593 c.8179C>T c.(8179-8181)Cgg>Tgg p.R2727W FBN3_ENST00000270509.2_Missense_Mutation_p.R2727W|FBN3_ENST00000601739.1_Missense_Mutation_p.R2727W Q75N90 FBN3_HUMAN fibrillin 3 2727 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 AGGGCCGGCCGGAGCTCCAGG 0.652000 7 45 0 0 1 0 0 KANK2 25959 broad.mit.edu 37 19 11287442 11287442 + Silent SNP G G A TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr19:11287442G>A ENST00000432929.2 - 7 1956 c.1596C>T c.(1594-1596)aaC>aaT p.N532N KANK2_ENST00000355150.5_Silent_p.N524N|KANK2_ENST00000586659.1_Silent_p.N524N|KANK2_ENST00000589359.1_Silent_p.N532N|KANK2_ENST00000589894.1_Silent_p.N524N NM_001136191.2 NP_001129663.1 Q63ZY3 KANK2_HUMAN KN motif and ankyrin repeat domains 2 524 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 CTGTGCTGTCGTTGTCTGAGA 0.637000 6 88 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10419832 10419832 + Missense_Mutation SNP G G T TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr17:10419832G>T ENST00000226207.5 - 3 222 c.128C>A c.(127-129)cCt>cAt p.P43H CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 43 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GGACTCCTTAGGGTCCACCAC 0.517000 10 274 2.17888e-05 2.42097e-05 1 1 0 CCT6P3 0 broad.mit.edu 37 7 64498755 64498755 + RNA SNP G G C TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr7:64498755G>C ENST00000426828.1 + 0 18 NR_033416.1 gcaggatggcgacggcCGTCC 0.746000 7 5 0 0 1 0 0 OR2T27 403239 broad.mit.edu 37 1 248813300 248813300 + Missense_Mutation SNP C C T TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr1:248813300C>T ENST00000344889.3 - 1 885 c.886G>A c.(886-888)Gat>Aat p.D296N NM_001001824.1 NP_001001824.1 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, member 27 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1) 32 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCTGTGACATCCTTGTTCCTA 0.463000 6 115 0 0 1 0 0 ENTHD2 146705 broad.mit.edu 37 17 79207838 79207838 + Silent SNP C C G TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr17:79207838C>G ENST00000300714.3 - 5 375 c.318G>C c.(316-318)ggG>ggC p.G106G ENTHD2_ENST00000374769.2_5'UTR NM_144679.2 NP_653280.1 ENTH domain containing 2 GATCTGGGGGCCCTGCAAAAG 0.677000 3 21 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 48 72 0 0 1 0 0 PNMA3 29944 broad.mit.edu 37 X 152225805 152225805 + Silent SNP G G A TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chrX:152225805G>A ENST00000447306.1 + 2 729 c.393G>A c.(391-393)tcG>tcA p.S131S PNMA3_ENST00000370264.4_Silent_p.S131S|PNMA3_ENST00000370265.4_Silent_p.S131S NM_013364.4 NP_037496.3 Q9UL41 PNMA3_HUMAN paraneoplastic Ma antigen 3 131 apoptosis nucleolus nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) ccaattgttcggctccaagag 0.532000 20 73 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57326078 57326078 + Missense_Mutation SNP C C A TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr19:57326078C>A ENST00000326441.9 - 10 4095 c.3732G>T c.(3730-3732)atG>atT p.M1244I ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.M1244I|PEG3_ENST00000593695.1_Missense_Mutation_p.M1118I|PEG3_ENST00000598410.1_Missense_Mutation_p.M1120I|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1244 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TATGAAGTCTCATATGCTCAT 0.498000 11 81 4.68919e-08 5.4106e-08 1 1 0 C19orf52 90580 broad.mit.edu 37 19 11040151 11040151 + Missense_Mutation SNP G G T TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr19:11040151G>T ENST00000270502.6 + 2 646 c.556G>T c.(556-558)Gac>Tac p.D186Y NM_138358.2 NP_612367.1 Q9BSF4 CS052_HUMAN chromosome 19 open reading frame 52 186 prostate(1) 1 CGACATCAACGACGACGAATT 0.672000 6 78 0.00116845 0.00120874 1 1 0 RB1 5925 broad.mit.edu 37 13 49039407 49039407 + Missense_Mutation SNP C C T TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr13:49039407C>T ENST00000267163.4 + 23 2530 c.2392C>T c.(2392-2394)Cgg>Tgg p.R798W NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 798 Domain C; mediates interaction with E4F1.|Interaction with LIMD1. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(11)|p.R798fs*17(1)|p.R798W(1)|p.L797fs*1(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTCACCCTTACGGATTCCTGG 0.408000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 24 161 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123345699 123345699 + Missense_Mutation SNP C C T TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr3:123345699C>T ENST00000360772.3 - 31 5429 c.5051G>A c.(5050-5052)cGg>cAg p.R1684Q MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000475616.1_Missense_Mutation_p.R1735Q|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.R1735Q|MYLK_ENST00000359169.1_Missense_Mutation_p.R1684Q|MYLK_ENST00000354792.5_Missense_Mutation_p.R535Q|MYLK_ENST00000346322.5_Missense_Mutation_p.R1666Q Q15746 MYLK_HUMAN myosin light chain kinase 1735 Protein kinase. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CTTCTTCATCCGGTCCTTGGA 0.493000 13 105 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1497669 1497669 + Missense_Mutation SNP G G C TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr8:1497669G>C ENST00000421627.2 + 2 944 c.810G>C c.(808-810)aaG>aaC p.K270N NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 349 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) ACGACGTCAAGTGCTCGGCCT 0.672000 5 102 0 0 1 0 0 LMOD1 25802 broad.mit.edu 37 1 201868633 201868633 + Missense_Mutation SNP G G A TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr1:201868633G>A ENST00000367288.4 - 2 1754 c.1508C>T c.(1507-1509)gCc>gTc p.A503V RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA NM_012134.2 NP_036266.2 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 503 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 CTTAGCCACGGCCCCGGCCTT 0.582000 4 37 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38158122 38158122 + Silent SNP G G A rs114701641 by1000genomes TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr3:38158122G>A ENST00000308059.6 + 28 4056 c.4035G>A c.(4033-4035)tcG>tcA p.S1345S DLEC1_ENST00000452631.2_Silent_p.S1348S|DLEC1_ENST00000346219.3_Silent_p.S1345S Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 1345 negative regulation of cell proliferation cytoplasm p.S1345S(3) NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CCAGTTCATCGGAATTCAGCC 0.627000 6 123 0 0 1 0 0 WASH2P 0 broad.mit.edu 37 2 114356221 114356221 + RNA SNP C C T TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr2:114356221C>T ENST00000538033.2 + 0 2401 GTGAGGGGCCCGGAGGAGCCT 0.657000 2 7 0 0 1 0 0 PCDHB6 0 broad.mit.edu 37 5 140531054 140531054 + Missense_Mutation SNP G G A TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr5:140531054G>A ENST00000231136.1 + 1 1216 c.1216G>A c.(1216-1218)Gcg>Acg p.A406T PCDHB6_ENST00000543635.1_Missense_Mutation_p.A270T NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 406 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AACAGAAGGCGCGCTGGACAG 0.483000 15 161 0 0 1 0 0 CATSPER2P1 0 broad.mit.edu 37 15 44028683 44028683 + RNA SNP C C A TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr15:44028683C>A ENST00000381680.2 - 0 1101 NR_002318.2 cactatacttcaacttgttca 0.328000 5 11 0.000602214 0.00063391 1 1 0 URM1 81605 broad.mit.edu 37 9 131133623 131133623 + Translation_Start_Site SNP G G A TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr9:131133623G>A ENST00000452446.1 + 0 26 URM1_ENST00000372853.4_De_novo_Start_InFrame NM_001135947.2 NP_001129419.1 Q9BTM9 URM1_HUMAN ubiquitin related modifier 1 tRNA thio-modification|tRNA wobble uridine modification protein binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1) 5 CGCGCCGGAAGTTGAGGGGAG 0.657000 5 17 0 0 1 0 0 PXK 54899 broad.mit.edu 37 3 58395861 58395861 + Silent SNP G G A TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr3:58395861G>A ENST00000463280.1 + 14 1432 c.1341G>A c.(1339-1341)gcG>gcA p.A447A PXK_ENST00000383716.3_Silent_p.A447A|PXK_ENST00000302779.5_Silent_p.A463A|PXK_ENST00000356151.2_Silent_p.A480A|PXK_ENST00000484288.1_Silent_p.A480A|PXK_ENST00000536660.1_Silent_p.A343A|PXK_ENST00000479241.1_Silent_p.A463A|PXK_ENST00000383715.4_Silent_p.A463A Q7Z7A4 PXK_HUMAN PX domain containing serine/threonine kinase 480 Protein kinase. cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission centrosome|cytoplasm|nucleus|plasma membrane actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22) AGCATTCAGCGAAGTACAGCA 0.433000 33 41 0 0 1 0 0 GAK 2580 broad.mit.edu 37 4 890299 890299 + Silent SNP T T C TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr4:890299T>C ENST00000314167.4 - 7 800 c.690A>G c.(688-690)gaA>gaG p.E230E GAK_ENST00000511163.1_Silent_p.E151E NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 230 Protein kinase. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) AGTCTATGATTTCTGGTGTTC 0.453000 11 59 0 0 1 0 0 ZG16B 124220 broad.mit.edu 37 16 2880459 2880459 + Missense_Mutation SNP C C T TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr16:2880459C>T ENST00000382280.3 + 2 204 c.125C>T c.(124-126)aCg>aTg p.T42M ZG16B_ENST00000572863.1_Missense_Mutation_p.T12M NM_145252.2 NP_660295.2 Q96DA0 ZG16B_HUMAN zymogen granule protein 16B 42 Poly-Leu. extracellular region sugar binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 CTGCTGCTCACGCTTGCCCTC 0.662000 7 5 0 0 1 0 0 TRIM47 91107 broad.mit.edu 37 17 73870808 73870808 + Missense_Mutation SNP G G A TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr17:73870808G>A ENST00000254816.2 - 6 1699 c.1673C>T c.(1672-1674)gCc>gTc p.A558V TRIM47_ENST00000587339.1_Missense_Mutation_p.A320V NM_033452.2 NP_258411.2 Q96LD4 TRI47_HUMAN tripartite motif containing 47 558 B30.2/SPRY. cytoplasm|nucleus zinc ion binding autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) GAAGGCCAAGGCACGGTCAGC 0.667000 33 56 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117180367 117180367 + Missense_Mutation SNP G G C TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr7:117180367G>C ENST00000003084.6 + 8 1215 c.1083G>C c.(1081-1083)tgG>tgC p.W361C CFTR_ENST00000454343.1_Missense_Mutation_p.W361C NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 361 ABC transmembrane type-1 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TACAAACATGGTATGACTCTC 0.388000 Cystic Fibrosis 6 127 0 0 1 0 0 NEK10 152110 broad.mit.edu 37 3 27326389 27326389 + Missense_Mutation SNP G G T TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr3:27326389G>T ENST00000429845.2 - 22 2215 c.1853C>A c.(1852-1854)tCt>tAt p.S618Y NEK10_ENST00000341435.5_Missense_Mutation_p.S618Y|NEK10_ENST00000357467.2_Missense_Mutation_p.S15Y Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 618 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TTCCTTCAAAGAACTGAAATG 0.313000 5 102 0.014758 0.0150081 1 1 0 MDFI 4188 broad.mit.edu 37 6 41621214 41621214 + Silent SNP G G T TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr6:41621214G>T ENST00000373050.4 + 4 646 c.459G>T c.(457-459)ctG>ctT p.L153L Q99750 MDFI_HUMAN MyoD family inhibitor 214 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) ACTGCGACCTGCCCTGCGACC 0.657000 9 158 0.335167 0.335167 1 1 0 MUC16 94025 broad.mit.edu 37 19 9090068 9090068 + Missense_Mutation SNP C C G TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr19:9090068C>G ENST00000397910.4 - 1 1950 c.1747G>C c.(1747-1749)Gaa>Caa p.E583Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 583 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GATGTTTCTTCAAGCCAAATC 0.532000 4 58 0 0 1 0 0 SRRM1 10250 broad.mit.edu 37 1 24978928 24978928 + Missense_Mutation SNP C C A TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr1:24978928C>A ENST00000323848.9 + 7 1044 c.729C>A c.(727-729)gaC>gaA p.D243E SRRM1_ENST00000447431.2_Missense_Mutation_p.D243E|SRRM1_ENST00000374389.4_Missense_Mutation_p.D243E|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_Missense_Mutation_p.D112E NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 243 Arg-rich.|Pro-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) TCCACAGTGACATTCTGAAAG 0.348000 4 33 2.56e-06 2.89811e-06 1 1 0 F9 2158 broad.mit.edu 37 X 138633271 138633271 + Missense_Mutation SNP C C A rs137852237 TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chrX:138633271C>A ENST00000218099.2 + 6 578 c.571C>A c.(571-573)Cgt>Agt p.R191S F9_ENST00000394090.2_Missense_Mutation_p.R153S NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 191 Cleavage; by factor XIa. R -> C (in HEMB; moderate; Albuquerque, Cardiff-1, etc.).|R -> H (in HEMB; moderate; Chapel-Hill, Chicago-2, etc.). blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) TAAGCTCACCCGTGCTGAGAC 0.358000 12 126 0.00010058 0.000107764 1 1 0 MED12L 116931 broad.mit.edu 37 3 151127118 151127118 + Nonsense_Mutation SNP C C T TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr3:151127118C>T ENST00000474524.1 + 38 5841 c.5803C>T c.(5803-5805)Cag>Tag p.Q1935* MED12L_ENST00000273432.4_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1935 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAAGCACAGGTACCCAC 0.507000 6 98 0 0 1 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820265 35820265 + Silent SNP C C T rs5928990 by1000genomes TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chrX:35820265C>T ENST00000399992.1 + 3 147 c.48C>T c.(46-48)tgC>tgT p.C16C MAGEB16_ENST00000399987.1_5'UTR|MAGEB16_ENST00000399988.1_5'UTR|MAGEB16_ENST00000399985.1_5'UTR|MAGEB16_ENST00000399989.1_5'UTR A2A368 MAGBG_HUMAN melanoma antigen family B, 16 0 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 TTCTTCATTGCCTGCCCTCCT 0.522000 4 58 0 0 1 0 0 HSD17B3 3293 broad.mit.edu 37 9 99017173 99017173 + Missense_Mutation SNP A A G TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr9:99017173A>G ENST00000375263.3 - 3 301 c.254T>C c.(253-255)cTa>cCa p.L85P HSD17B3_ENST00000375262.2_Missense_Mutation_p.L85P NM_000197.1 NP_000188.1 P37058 DHB3_HUMAN hydroxysteroid (17-beta) dehydrogenase 3 85 androgen biosynthetic process|male genitalia development endoplasmic reticulum membrane|microsome binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214) NADH(DB00157) AATGGCCTCTAGTTTTTCCAG 0.512000 16 26 0 0 1 0 0 DMXL1 1657 broad.mit.edu 37 5 118506611 118506611 + Missense_Mutation SNP G G T TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr5:118506611G>T ENST00000311085.8 + 24 6205 c.6125G>T c.(6124-6126)cGt>cTt p.R2042L DMXL1_ENST00000539542.1_Missense_Mutation_p.R2042L NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 2042 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GTAGAACTTCGTACTTTATCT 0.358000 43 46 1.57019e-19 1.84729e-19 1 1 0 HSD17B1 3292 broad.mit.edu 37 17 40704977 40704977 + Missense_Mutation SNP C C G TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr17:40704977C>G ENST00000585807.1 + 1 3746 c.26C>G c.(25-27)aCc>aGc p.T9S HSD17B1_ENST00000225929.5_Missense_Mutation_p.T9S|RP11-400F19.6_ENST00000590513.1_RNA|RP11-400F19.8_ENST00000585572.1_RNA NM_000413.2 NP_000404.2 P14061 DHB1_HUMAN hydroxysteroid (17-beta) dehydrogenase 1 9 estrogen biosynthetic process cytosol binding|estradiol 17-beta-dehydrogenase activity NS(1)|endometrium(1)|kidney(1)|lung(2) 5 all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261) BRCA - Breast invasive adenocarcinoma(366;0.129) NADH(DB00157) GTGCTCATCACCGGCTGTTCC 0.647000 4 61 0 0 1 0 0 BRF2 55290 broad.mit.edu 37 8 37702487 37702487 + Missense_Mutation SNP G G A TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr8:37702487G>A ENST00000220659.6 - 4 901 c.781C>T c.(781-783)Ccg>Tcg p.P261S BRF2_ENST00000520601.1_3'UTR NM_018310.3 NP_060780.2 Q9HAW0 BRF2_HUMAN BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit 261 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent nucleoplasm protein binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1) 12 Lung NSC(58;0.118)|all_lung(54;0.195) BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10) GAGGACGCCGGGTAGGGCAGG 0.587000 5 52 0 0 1 0 0 TNFRSF1B 7133 broad.mit.edu 37 1 12251959 12251959 + Missense_Mutation SNP G G T TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr1:12251959G>T ENST00000376259.3 + 4 525 c.436G>T c.(436-438)Ggc>Tgc p.G146C TNFRSF1B_ENST00000492361.1_3'UTR|TNFRSF1B_ENST00000536782.1_Missense_Mutation_p.G146C NM_001066.2 NP_001057.1 P20333 TNR1B_HUMAN tumor necrosis factor receptor superfamily, member 1B 146 apoptosis extracellular region|integral to membrane|membrane raft|plasma membrane tumor necrosis factor receptor activity p.G146R(1) central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(185;0.249) Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284) Etanercept(DB00005)|Infliximab(DB00065) GTGCCGCCCGGGCTTCGGCGT 0.682000 3 30 6.4e-05 6.98182e-05 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 6 93 0 0 1 0 0 PAXBP1 94104 broad.mit.edu 37 21 34123457 34123457 + Missense_Mutation SNP C C T TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr21:34123457C>T ENST00000331923.4 - 9 1769 c.1580G>A c.(1579-1581)cGt>cAt p.R527H PAXBP1_ENST00000290178.4_Missense_Mutation_p.R527H NM_016631.3 NP_057715.2 PAX3 and PAX7 binding protein 1 TGCAATGCGACGTTTTGCATG 0.463000 19 67 0 0 1 0 0 SPRR3 6707 broad.mit.edu 37 1 152975806 152975829 + In_Frame_Del DEL CCAGGCTACACCAAGGTCCCTGAA CCAGGCTACACCAAGGTCCCTGAA - rs1970328 byFrequency TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr1:152975806_152975829delCCAGGCTACACCAAGGTCCCTGAA ENST00000331860.3 + 3 460_483 c.310_333delCCAGGCTACACCAAGGTCCCTGAA c.(310-333)del p.PGYTKVPE104del SPRR3_ENST00000295367.4_In_Frame_Del_p.PGYTKVPE104del|SPRR3_ENST00000542696.1_In_Frame_Del_p.PGYTKVPE96del NM_005416.2 NP_005407.1 Q9UBC9 SPRR3_HUMAN small proline-rich protein 3 104 14 X 8 AA approximate tandem repeats. Missing. keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity p.Y106C(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 11 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGTCCCTGAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCA 0.567 8 87 --- --- --- --- AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 8 --- --- --- --- TRIM59 286827 broad.mit.edu 37 3 160156367 160156368 + Frame_Shift_Ins INS - - T TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr3:160156367_160156368insT ENST00000543469.1 - 2 818_819 c.604_605insA c.(604-606)tttfs p.F202fs TRIM59_ENST00000309784.4_Frame_Shift_Ins_p.F202fs|RP11-432B6.3_ENST00000483754.1_Frame_Shift_Ins_p.F202fs Q8IWR1 TRI59_HUMAN tripartite motif containing 59 202 integral to membrane|intracellular zinc ion binding p.S202fs*3(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3) 15 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CGTTAGGAAACTTTTTTTTTTC 0.342 10 154 --- --- --- --- TNRC18 84629 broad.mit.edu 37 7 5401259 5401259 + Frame_Shift_Del DEL G G - TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr7:5401259delG ENST00000399537.4 - 14 4975 c.4627delC c.(4627-4629)gcfs p.R1543fs TNRC18_ENST00000430969.1_Frame_Shift_Del_p.R1543fs O15417 TNC18_HUMAN trinucleotide repeat containing 18 1543 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CCTCTCTTGCGGGGGGGCGAC 0.692 2 4 --- --- --- --- GAS6 2621 broad.mit.edu 37 13 114549976 114549977 + Frame_Shift_Del DEL CT CT - TCGA-DJ-A3V7-01A-11D-A23M-08 TCGA-DJ-A3V7-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c210339e-a61d-42e4-9dba-b78b2dd6a036 d3920478-36c0-454d-8847-4652bdd83241 g.chr13:114549976_114549977delCT ENST00000355761.4 - 1 79_80 c.80_81delAG c.(79-81)gfs p.E27fs GAS6_ENST00000357389.3_Intron|GAS6_ENST00000327773.6_Intron Q14393 GAS6_HUMAN growth arrest-specific 6 0 cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen calcium ion binding|receptor agonist activity central_nervous_system(4)|ovary(1) 5 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) CCCCTCCATGCTCTCTGGCTGG 0.574 11 7 --- --- --- ---