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 FRMD4A 55691 broad.mit.edu 37 10 13712496 13712496 + Silent SNP G G A TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr10:13712496G>A ENST00000357447.2 - 17 1652 c.1284C>T c.(1282-1284)ccC>ccT p.P428P FRMD4A_ENST00000358621.4_Silent_p.P413P|FRMD4A_ENST00000378503.1_Silent_p.P428P NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 428 cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 CTGGATCCAGGGGATATTCTA 0.517000 19 39 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31573040 31573040 + Missense_Mutation SNP T T C TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr2:31573040T>C ENST00000379416.3 - 25 2729 c.2681A>G c.(2680-2682)aAc>aGc p.N894S NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 894 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GCCCCGGATGTTGGGGATTTT 0.537000 14 58 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38781061 38781061 + Missense_Mutation SNP A A G TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr3:38781061A>G ENST00000449082.2 - 14 2224 c.2225T>C c.(2224-2226)cTa>cCa p.L742P NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 742 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GCCCAGCTCTAGCAGACTCAC 0.478000 17 25 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81741405 81741405 + Silent SNP C C A TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr12:81741405C>A ENST00000550584.2 - 17 2434 c.2139G>T c.(2137-2139)ctG>ctT p.L713L PPFIA2_ENST00000548586.1_Silent_p.L713L|PPFIA2_ENST00000541570.2_Silent_p.L280L|PPFIA2_ENST00000552948.1_Silent_p.L713L|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Silent_p.L560L|PPFIA2_ENST00000443686.3_Silent_p.L614L|PPFIA2_ENST00000549325.1_Silent_p.L695L|PPFIA2_ENST00000549396.1_Silent_p.L713L|PPFIA2_ENST00000407050.4_Silent_p.L639L|PPFIA2_ENST00000333447.7_Silent_p.L695L NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 639 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 ATGAACTGGCCAGCGATGAAG 0.532000 8 102 0.00621372 0.00648388 1 1 0 SMTN 6525 broad.mit.edu 37 22 31484930 31484930 + Missense_Mutation SNP C C A TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr22:31484930C>A ENST00000333137.7 + 6 664 c.446C>A c.(445-447)gCg>gAg p.A149E SMTN_ENST00000347557.2_Missense_Mutation_p.A149E|SMTN_ENST00000358743.1_Missense_Mutation_p.A149E NM_001207018.1|NM_134269.2 NP_001193947.1|NP_599031.1 P53814 SMTN_HUMAN smoothelin 149 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 AAGGGGCTAGCGGCACACAGG 0.607000 OREG0026472 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 27 6.4e-05 6.98182e-05 1 1 0 GPR98 84059 broad.mit.edu 37 5 90074890 90074890 + Missense_Mutation SNP T T G TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr5:90074890T>G ENST00000405460.2 + 64 13154 c.13058T>G c.(13057-13059)aTt>aGt p.I4353S NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4353 Calx-beta 29. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCTCTAACAATTACAAAGGTG 0.423000 3 20 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158582669 158582669 + Missense_Mutation SNP C C T TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr1:158582669C>T ENST00000368148.3 - 51 7252 c.7072G>A c.(7072-7074)Gag>Aag p.E2358K SPTA1_ENST00000368147.3_Missense_Mutation_p.E2355K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2358 EF-hand 3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AAGGCATTCTCTATTTCATCA 0.468000 12 30 0 0 1 0 0 RBM33 155435 broad.mit.edu 37 7 155503998 155503998 + Silent SNP G G A TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr7:155503998G>A ENST00000401878.3 + 8 1248 c.1050G>A c.(1048-1050)ccG>ccA p.P350P RBM33_ENST00000486747.1_3'UTR NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 350 Pro-rich. nucleotide binding|RNA binding breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) TGCAGCACCCGCACCACCCAT 0.682000 3 34 0 0 1 0 0 TLE1 7088 broad.mit.edu 37 9 84228341 84228341 + Silent SNP A A G TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr9:84228341A>G ENST00000376499.3 - 12 2078 c.1014T>C c.(1012-1014)cgT>cgC p.R338R TLE1_ENST00000376472.1_Silent_p.R13R|TLE1_ENST00000376484.1_Silent_p.R13R|TLE1_ENST00000464999.1_5'UTR NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 338 Pro/Ser-rich. negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 CGAGACCTGGACGGAGGCCTG 0.592000 3 45 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70346370 70346370 + Silent SNP C C T TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr4:70346370C>T ENST00000305107.6 - 6 1615 c.1569G>A c.(1567-1569)aaG>aaA p.K523K UGT2B4_ENST00000381096.3_Silent_p.K387K|UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000506580.1_5'UTR NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 523 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 TTTTCCCCTTCTTTCCTGTTC 0.408000 18 83 0 0 1 0 0 FGFR1 2260 broad.mit.edu 37 8 38274849 38274849 + Missense_Mutation SNP G G T TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr8:38274849G>T ENST00000447712.2 - 12 2579 c.1638C>A c.(1636-1638)aaC>aaA p.N546K FGFR1_ENST00000532791.1_Missense_Mutation_p.N544K|FGFR1_ENST00000326324.6_Missense_Mutation_p.N455K|FGFR1_ENST00000425967.3_Missense_Mutation_p.N577K|FGFR1_ENST00000397091.5_Missense_Mutation_p.N544K|FGFR1_ENST00000397103.1_Missense_Mutation_p.N457K|FGFR1_ENST00000397108.4_Missense_Mutation_p.N544K|FGFR1_ENST00000397113.2_Missense_Mutation_p.N544K|FGFR1_ENST00000356207.5_Missense_Mutation_p.N457K|FGFR1_ENST00000341462.5_Missense_Mutation_p.N546K|FGFR1_ENST00000335922.5_Missense_Mutation_p.N536K NM_001174063.1|NM_015850.3|NM_023110.2 NP_001167534.1|NP_056934.2|NP_075598.2 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 546 Protein kinase. axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity p.N546K(4) FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) CCCCCAGCAGGTTGATGATAT 0.542000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 28 37 8.4185e-14 9.62115e-14 1 1 0 MAML1 9794 broad.mit.edu 37 5 179193112 179193112 + Silent SNP A A C TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr5:179193112A>C ENST00000292599.3 + 2 1364 c.1101A>C c.(1099-1101)tcA>tcC p.S367S MAML1_ENST00000503050.1_3'UTR NM_014757.4 NP_055572.1 Q92585 MAML1_HUMAN mastermind-like 1 (Drosophila) 367 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 36 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGCCGGCATCAGCCCAGGCCC 0.627000 5 44 0 0 1 0 0 TNFAIP3 7128 broad.mit.edu 37 6 138201287 138201287 + Silent SNP C C T TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr6:138201287C>T ENST00000237289.4 + 8 2052 c.1986C>T c.(1984-1986)tgC>tgT p.C662C NM_001270507.1|NM_001270508.1|NM_006290.3 NP_001257436.1|NP_001257437.1|NP_006281.1 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 662 Interaction with NAF1 (By similarity). anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(25)|p.C662fs*36(1) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 225 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) GGAGGGAATGCGGCACCCTTG 0.502000 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" 3 36 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24669920 24669920 + Silent SNP T T C TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr10:24669920T>C ENST00000376454.3 + 3 507 c.477T>C c.(475-477)ccT>ccC p.P159P KIAA1217_ENST00000376462.1_Silent_p.P79P|KIAA1217_ENST00000458595.1_Silent_p.P159P|KIAA1217_ENST00000376452.3_Silent_p.P159P|KIAA1217_ENST00000430453.2_Silent_p.P80P NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 159 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CTCCAACCCCTTTTTCCAGAG 0.542000 3 54 0 0 1 0 0 EMILIN3 90187 broad.mit.edu 37 20 39990877 39990877 + Silent SNP C C T TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr20:39990877C>T ENST00000332312.3 - 4 1524 c.1332G>A c.(1330-1332)ggG>ggA p.G444G NM_052846.1 NP_443078.1 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 444 proteinaceous extracellular matrix biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) CACCCTCTGTCCCATTGAGCG 0.667000 32 56 0 0 1 0 0 STOX1 219736 broad.mit.edu 37 10 70645882 70645882 + Missense_Mutation SNP G G A TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr10:70645882G>A ENST00000298596.6 + 3 2413 c.2330G>A c.(2329-2331)aGa>aAa p.R777K STOX1_ENST00000399169.4_Missense_Mutation_p.R777K|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.R667K|STOX1_ENST00000399162.2_Intron NM_152709.4 NP_689922.3 Q6ZVD7 STOX1_HUMAN storkhead box 1 777 cytoplasm|nucleolus DNA binding breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3) 28 GTGATTGAGAGATCTCTGACC 0.468000 4 47 0 0 1 0 0 TEK 7010 broad.mit.edu 37 9 27180335 27180335 + Silent SNP A A G rs111637971 TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr9:27180335A>G ENST00000380036.4 + 7 1441 c.999A>G c.(997-999)ccA>ccG p.P333P TEK_ENST00000406359.4_Intron|TEK_ENST00000519097.1_Intron NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 333 EGF-like 3. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) TCTGCTCTCCAGGATGGCAGG 0.507000 9 17 0 0 1 0 0 IGKV1D-16 28901 broad.mit.edu 37 2 90139477 90139477 + RNA SNP G G A rs2848291 by1000genomes TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr2:90139477G>A ENST00000492446.1 + 0 275 GTCCCATCAAGGTTCAGCGGC 0.483000 4 157 0 0 1 0 0 REV1 51455 broad.mit.edu 37 2 100065882 100065882 + Missense_Mutation SNP T T C TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr2:100065882T>C ENST00000258428.3 - 4 494 c.266A>G c.(265-267)cAt>cGt p.H89R REV1_ENST00000393445.3_Missense_Mutation_p.H89R|REV1_ENST00000465835.1_5'UTR NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 89 BRCT. DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGCAATAATATGTGTTGTTTT 0.323000 Direct reversal of damage 4 78 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169454924 169454924 + Nonsense_Mutation SNP G G T TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr5:169454924G>T ENST00000256935.8 + 34 3519 c.3439G>T c.(3439-3441)Gag>Tag p.E1147* DOCK2_ENST00000520908.1_Nonsense_Mutation_p.E639*|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.E208* NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1147 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCGAGGCGACGAGCAGTACAT 0.517000 5 94 0.217242 0.217242 1 1 0 ZMYM1 79830 broad.mit.edu 37 1 35579445 35579445 + Missense_Mutation SNP G G C TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr1:35579445G>C ENST00000373330.1 + 11 2188 c.2014G>C c.(2014-2016)Gct>Cct p.A672P ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.A672P Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM-type 1 672 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ATCATCAAAGGCTATCTTAAT 0.368000 6 25 0 0 1 0 0 ADH4 127 broad.mit.edu 37 4 100047875 100047875 + Frame_Shift_Del DEL T T - TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr4:100047875delT ENST00000508393.1 - 9 1210 c.1045delA c.(1045-1047)gtfs p.S349fs ADH4_ENST00000505590.1_Frame_Shift_Del_p.S349fs|ADH4_ENST00000423445.1_Frame_Shift_Del_p.S349fs|ADH4_ENST00000265512.7_Frame_Shift_Del_p.S330fs|RP11-696N14.1_ENST00000500358.2_RNA P08319 ADH4_HUMAN alcohol dehydrogenase 4 (class II), pi polypeptide 330 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) GAATCTACACTTTTCCAACCT 0.373 22 52 --- --- --- --- ARHGEF17 9828 broad.mit.edu 37 11 73074835 73074835 + Frame_Shift_Del DEL A A - TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr11:73074835delA ENST00000263674.3 + 16 5640 c.5290delA c.(5290-5292)acfs p.N1764fs NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1764 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 TGACCGCAGGAACAGCATGAA 0.602 17 30 --- --- --- --- CCDC144B 284047 broad.mit.edu 37 17 18498498 18498498 + RNA DEL A A - rs80104188 TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chr17:18498498delA ENST00000442583.1 - 0 749 NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 36 TGCAGGCCTGAAAAAAAAAAA 0.244 3 3 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44732958 44732958 + Splice_Site DEL G G - TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 294d435e-dba0-4226-982b-48fc102ccf14 44eaf2f9-5b8b-48bc-b806-92df51bef7ef g.chrX:44732958delG ENST00000377967.4 + 1 202 c.161_splice c.e1+1 p.S54_splice KDM6A_ENST00000536777.1_Splice_Site_p.S54_splice|KDM6A_ENST00000543216.1_Splice_Site_p.S54_splice|KDM6A_ENST00000382899.4_Splice_Site_p.S54_splice NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 54 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0(8)|p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 GGACTGGACAGGTACGGGCCG 0.731 """D, N, F, S""" """renal, oesophageal SCC, MM""" 2 4 --- --- --- ---