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 BTN2A3P 54718 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 9 181 0 0 1 0 0 PARP2 10038 broad.mit.edu 37 14 20824565 20824565 + Missense_Mutation SNP G G C TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr14:20824565G>C ENST00000527915.1 + 12 1245 c.1240G>C c.(1240-1242)Gaa>Caa p.E414Q PARP2_ENST00000429687.3_Missense_Mutation_p.E401Q|PARP2_ENST00000250416.5_Missense_Mutation_p.E414Q Q9UGN5 PARP2_HUMAN poly (ADP-ribose) polymerase 2 414 PARP catalytic. protein ADP-ribosylation nucleolus|nucleoplasm DNA binding|NAD+ ADP-ribosyltransferase activity central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 15 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;5.34e-07)|all cancers(55;3.7e-06) GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649) TGGTGAGAAAGAAGCCTTCAG 0.468000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 4 88 0 0 1 0 0 C1orf85 112770 broad.mit.edu 37 1 156263853 156263853 + Missense_Mutation SNP C C G TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr1:156263853C>G ENST00000362007.1 - 4 780 c.754G>C c.(754-756)Gag>Cag p.E252Q C1orf85_ENST00000368264.1_Missense_Mutation_p.E166Q|C1orf85_ENST00000472870.1_Intron NM_001256604.1|NM_001256609.1|NM_144580.2 NP_001243533.1|NP_001243538.1|NP_653181.1 Q8WWB7 NCUG1_HUMAN chromosome 1 open reading frame 85 252 positive regulation of transcription from RNA polymerase II promoter cytosol|integral to membrane|lysosomal membrane|nucleus ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3) 14 Hepatocellular(266;0.158) GAGTGCTGCTCCTGCATTGAG 0.607000 6 192 0 0 1 0 0 DDX42 11325 broad.mit.edu 37 17 61869830 61869830 + Missense_Mutation SNP G G C TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr17:61869830G>C ENST00000578681.1 + 4 881 c.280G>C c.(280-282)Gaa>Caa p.E94Q DDX42_ENST00000359353.5_5'UTR|DDX42_ENST00000457800.2_Missense_Mutation_p.E94Q|DDX42_ENST00000389924.2_Missense_Mutation_p.E94Q|DDX42_ENST00000583590.1_Missense_Mutation_p.E94Q NM_007372.2 NP_031398.2 Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 94 protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 CATTCCTGCTGAAAACTCACC 0.418000 5 100 0 0 1 0 0 SMAP1 60682 broad.mit.edu 37 6 71567625 71567625 + Splice_Site SNP G G T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr6:71567625G>T ENST00000370455.3 + 10 1210 c.961_splice c.e10-1 p.G321_splice SMAP1_ENST00000316999.5_Splice_Site_p.G294_splice|B3GAT2_ENST00000230053.6_3'UTR|SMAP1_ENST00000370452.3_Splice_Site_p.G294_splice NM_001044305.1 NP_001037770.1 Q8IYB5 SMAP1_HUMAN small ArfGAP 1 321 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1) 15 TGTGGTGCAGGTGTATTTATG 0.458000 3 39 0.150653 0.159854 1 1 0 EIF4G1 1981 broad.mit.edu 37 3 184046426 184046426 + Missense_Mutation SNP G G A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr3:184046426G>A ENST00000342981.4 + 26 4378 c.3964G>A c.(3964-3966)Gaa>Aaa p.E1322K EIF4G1_ENST00000382330.3_Missense_Mutation_p.E1328K|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E1321K|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E1157K|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E1328K|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E1281K|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E1126K|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E1282K|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E1234K|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Missense_Mutation_p.E1321K|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E1125K|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E1328K|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E1235K|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E1158K NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 1321 MI. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CAGGTTGTATGAAATCTTGGA 0.527000 10 174 0 0 1 0 0 UNK 85451 broad.mit.edu 37 17 73813472 73813472 + Silent SNP C C T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr17:73813472C>T ENST00000293218.3 + 10 1398 c.1398C>T c.(1396-1398)atC>atT p.I466I UNK_ENST00000589666.1_Silent_p.I390I Q9C0B0 UNK_HUMAN unkempt family zinc finger 390 nucleic acid binding|zinc ion binding cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 25 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) CGGGCTCCATCAGGAAGCCCC 0.657000 4 64 0 0 1 0 0 C17orf66 256957 broad.mit.edu 37 17 34192362 34192362 + Nonsense_Mutation SNP C C T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr17:34192362C>T ENST00000311880.2 - 3 325 c.177G>A c.(175-177)tgG>tgA p.W59* C17orf66_ENST00000587585.1_5'UTR|C17orf66_ENST00000592980.1_Nonsense_Mutation_p.W59* NM_152781.2 NP_689994.2 A2RTY3 CQ066_HUMAN chromosome 17 open reading frame 66 59 binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4) 38 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) GATGCTGCCTCCAGCACTCTG 0.542000 4 45 0 0 1 0 0 MTL5 9633 broad.mit.edu 37 11 68514699 68514699 + Missense_Mutation SNP G G C TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr11:68514699G>C ENST00000443940.2 - 3 693 c.607C>G c.(607-609)Ctt>Gtt p.L203V MTL5_ENST00000255087.5_Missense_Mutation_p.L203V|MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000544963.1_Missense_Mutation_p.L203V Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific (tesmin) 203 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 15 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) TCTTTCTTAAGAGAACAGCAG 0.418000 4 59 0 0 1 0 0 ZNF627 199692 broad.mit.edu 37 19 11728364 11728364 + Missense_Mutation SNP C C T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr19:11728364C>T ENST00000361113.5 + 4 1254 c.1046C>T c.(1045-1047)tCa>tTa p.S349L ZNF627_ENST00000588174.1_3'UTR NM_145295.3 NP_660338.1 Q7L945 ZN627_HUMAN zinc finger protein 627 349 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 TTCCCCAGTTCATTTCGAATC 0.418000 3 27 0 0 1 0 0 ESYT3 83850 broad.mit.edu 37 3 138188931 138188931 + Nonsense_Mutation SNP G G A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr3:138188931G>A ENST00000389567.4 + 16 1719 c.1533G>A c.(1531-1533)tgG>tgA p.W511* NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 511 C2 2. integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 ACCCTGTGTGGAGCCAGGTGT 0.522000 3 38 0 0 1 0 0 DQX1 165545 broad.mit.edu 37 2 74752246 74752246 + Silent SNP T T C TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr2:74752246T>C ENST00000404568.3 - 3 540 c.321A>G c.(319-321)gcA>gcG p.A107A DQX1_ENST00000393951.2_Silent_p.A107A NM_133637.2 NP_598376.2 Q8TE96 DQX1_HUMAN DEAQ box RNA-dependent ATPase 1 107 Helicase ATP-binding. nucleus ATP binding|helicase activity|nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 18 GGCTCCGGGCTGCAAGAGGGT 0.592000 4 28 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23899833 23899833 + Missense_Mutation SNP A A T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr14:23899833A>T ENST00000355349.3 - 11 1097 c.935T>A c.(934-936)tTc>tAc p.F312Y NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 312 Myosin head-like. F -> C (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TTGGGAGATGAATGCATAATC 0.572000 4 23 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63946372 63946372 + Missense_Mutation SNP C C A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr15:63946372C>A ENST00000443617.2 - 51 10323 c.10236G>T c.(10234-10236)atG>atT p.M3412I NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 3412 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 GATCTCCTCCCATATCAGCAA 0.458000 9 77 2.27111e-07 3.0649e-07 1 1 0 NLRP7 199713 broad.mit.edu 37 19 55450792 55450792 + Silent SNP G G A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr19:55450792G>A ENST00000446217.1 - 6 1881 c.1479C>T c.(1477-1479)tcC>tcT p.S493S NLRP7_ENST00000592784.1_Silent_p.S465S|NLRP7_ENST00000328092.5_Silent_p.S465S|NLRP7_ENST00000448121.2_Silent_p.S465S|NLRP7_ENST00000588756.1_Silent_p.S465S|NLRP7_ENST00000590030.1_Silent_p.S465S|NLRP7_ENST00000340844.2_Silent_p.S465S Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 465 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GGTGGATGAAGGAGTAGCAGC 0.627000 3 17 0 0 1 0 0 ZNF496 84838 broad.mit.edu 37 1 247464097 247464097 + Missense_Mutation SNP C C G TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr1:247464097C>G ENST00000294753.4 - 9 1952 c.1488G>C c.(1486-1488)aaG>aaC p.K496N ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.K532N NM_032752.1 NP_116141.1 Q96IT1 ZN496_HUMAN zinc finger protein 496 496 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) CCTGCTCTCTCTTCTCCACCG 0.637000 4 117 0 0 1 0 0 NID1 4811 broad.mit.edu 37 1 236205429 236205429 + Nonsense_Mutation SNP C C A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr1:236205429C>A ENST00000264187.6 - 4 998 c.916G>T c.(916-918)Gag>Tag p.E306* NID1_ENST00000366595.3_Nonsense_Mutation_p.E306* NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 306 cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CCCACATCCTCCAGGCCCAGA 0.602000 8 121 0.000673444 0.000828396 1 1 0 GP5 2814 broad.mit.edu 37 3 194117510 194117510 + Nonsense_Mutation SNP G G C TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr3:194117510G>C ENST00000401815.1 - 1 1573 c.1502C>G c.(1501-1503)tCa>tGa p.S501* GP5_ENST00000323007.3_Nonsense_Mutation_p.S501* P40197 GPV_HUMAN glycoprotein V (platelet) 501 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) CCAGGGTTCTGAGCTGTTGGG 0.657000 4 117 0 0 1 0 0 CCDC157 550631 broad.mit.edu 37 22 30772567 30772567 + Missense_Mutation SNP T T C TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr22:30772567T>C ENST00000405659.1 + 12 2801 c.2092T>C c.(2092-2094)Tct>Cct p.S698P CCDC157_ENST00000338306.3_Missense_Mutation_p.S698P|RP1-130H16.16_ENST00000332468.4_RNA Q569K6 CC157_HUMAN coiled-coil domain containing 157 698 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1) 15 CACATCCCCATCTCGGCAGCC 0.667000 7 262 0 0 1 0 0 KPNA4 3840 broad.mit.edu 37 3 160231870 160231870 + Missense_Mutation SNP C C T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr3:160231870C>T ENST00000334256.4 - 13 1437 c.1132G>A c.(1132-1134)Gat>Aat p.D378N NM_002268.4 NP_002259.1 O00629 IMA4_HUMAN karyopherin alpha 4 (importin alpha 3) 378 NLS binding site (minor) (By similarity). NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2) 22 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) CTTACCTTATCCAAAAGGTGT 0.368000 5 28 0 0 1 0 0 SMARCC2 6601 broad.mit.edu 37 12 56558473 56558473 + Missense_Mutation SNP A A G TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr12:56558473A>G ENST00000394023.3 - 28 3380 c.3275T>C c.(3274-3276)aTg>aCg p.M1092T SMARCC2_ENST00000347471.4_Missense_Mutation_p.M1092T|SMARCC2_ENST00000267064.4_Missense_Mutation_p.M1061T|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.M1092T NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1061 Pro-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TGCCCCTGGCATCATTGAGGG 0.537000 3 13 0 0 1 0 0 OR6F1 343169 broad.mit.edu 37 1 247875507 247875507 + Missense_Mutation SNP C C A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr1:247875507C>A ENST00000302084.2 - 1 598 c.551G>T c.(550-552)tGg>tTg p.W184L RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 184 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CAGGGCAATCCAGGGTGCAAT 0.552000 6 122 0.27861 0.284756 1 1 0 BIRC6 57448 broad.mit.edu 37 2 32836581 32836581 + Missense_Mutation SNP G G T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr2:32836581G>T ENST00000421745.2 + 73 14460 c.14326G>T c.(14326-14328)Gat>Tat p.D4776Y NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4776 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) GTGGATTGCGGATATCCAGCA 0.448000 7 55 0.0293803 0.0319052 1 1 0 ADCY1 107 broad.mit.edu 37 7 45719306 45719306 + Splice_Site SNP A A C TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr7:45719306A>C ENST00000297323.7 + 11 1920 c.e11-1 NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) TCTGTCCCCCAGGAGTGTGGT 0.582000 5 64 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61815535 61815535 + Missense_Mutation SNP C C G TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr10:61815535C>G ENST00000280772.1 - 42 13137 c.12946G>C c.(12946-12948)Gaa>Caa p.E4316Q ANK3_ENST00000503366.1_Missense_Mutation_p.E1807Q|ANK3_ENST00000355288.2_Missense_Mutation_p.E940Q|ANK3_ENST00000373827.2_Missense_Mutation_p.E1800Q NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 4316 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTAGTCTCTTCTATTATAAGC 0.438000 6 122 0 0 1 0 0 EYA2 2139 broad.mit.edu 37 20 45801474 45801474 + Missense_Mutation SNP G G T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr20:45801474G>T ENST00000327619.5 + 12 1531 c.1157G>T c.(1156-1158)cGg>cTg p.R386L EYA2_ENST00000317304.6_Missense_Mutation_p.R356L|EYA2_ENST00000357410.3_Missense_Mutation_p.R386L NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 386 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) CGCTACCGGCGGGTGAAGGAG 0.602000 10 66 7.03913e-09 9.98407e-09 1 1 0 SNTN 132203 broad.mit.edu 37 3 63645444 63645444 + Silent SNP T T A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr3:63645444T>A ENST00000496807.1 + 3 179 c.177T>A c.(175-177)acT>acA p.T59T SNTN_ENST00000343837.3_Silent_p.T63T A6NMZ2 SNTAN_HUMAN sentan, cilia apical structure protein 63 cilium calcium ion binding endometrium(2)|ovary(1) 3 TTGCCACCACTGCTCTGATTT 0.413000 10 81 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 240979670 240979670 + Missense_Mutation SNP G G T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr1:240979670G>T ENST00000366565.1 - 11 1111 c.730C>A c.(730-732)Cac>Aac p.H244N RGS7_ENST00000407727.1_Missense_Mutation_p.H244N|RGS7_ENST00000366564.1_Missense_Mutation_p.H244N|RGS7_ENST00000366562.4_Missense_Mutation_p.H244N|RGS7_ENST00000366563.1_Missense_Mutation_p.H244N|RGS7_ENST00000446183.2_Missense_Mutation_p.H160N|RGS7_ENST00000348120.2_Missense_Mutation_p.H191N|RGS7_ENST00000331110.7_Missense_Mutation_p.H218N|RGS7_ENST00000401882.1_Missense_Mutation_p.H191N NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 244 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity p.H244N(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GTGGGTGTGTGGGTAGGACTG 0.358000 5 171 6.5536e-12 9.48907e-12 1 1 0 ZNF836 162962 broad.mit.edu 37 19 52659075 52659075 + Missense_Mutation SNP C C A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr19:52659075C>A ENST00000322146.8 - 5 2382 c.1861G>T c.(1861-1863)Gac>Tac p.D621Y CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.D621Y NM_001102657.1 NP_001096127.1 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 621 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TTTCCACTGTCATTGAAGACC 0.423000 5 91 0.217242 0.223679 1 1 0 NPTN 27020 broad.mit.edu 37 15 73879894 73879894 + Missense_Mutation SNP G G A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr15:73879894G>A ENST00000351217.6 - 3 1247 c.329C>T c.(328-330)cCt>cTt p.P110L NPTN_ENST00000563691.1_Missense_Mutation_p.P226L|NPTN_ENST00000345330.4_Missense_Mutation_p.P226L|NPTN_ENST00000545878.1_Missense_Mutation_p.P226L|NPTN_ENST00000287226.8_Missense_Mutation_p.P226L|NPTN_ENST00000562924.1_Missense_Mutation_p.P110L|NPTN_ENST00000564551.1_5'UTR|NPTN_ENST00000542234.1_Intron NM_001161364.1|NM_017455.3 NP_001154836.1|NP_059429.1 Q9Y639 NPTN_HUMAN neuroplastin 226 Ig-like 1. elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation integral to membrane|plasma membrane|presynaptic membrane cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 13 GTTTGCTTTAGGAGCGCTGAC 0.498000 3 40 0 0 1 0 0 SLC44A3 126969 broad.mit.edu 37 1 95357836 95357836 + Splice_Site SNP G G T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr1:95357836G>T ENST00000271227.6 + 14 1722 c.e14-1 SLC44A3_ENST00000467909.1_Splice_Site|SLC44A3_ENST00000529450.1_Splice_Site|SLC44A3_ENST00000532427.1_Splice_Site|SLC44A3_ENST00000446120.2_Splice_Site|SLC44A3_ENST00000527077.1_Splice_Site NM_001114106.2|NM_001258340.1|NM_001258341.1 NP_001107578.1|NP_001245269.1|NP_001245270.1 Q8N4M1 CTL3_HUMAN solute carrier family 44, member 3 integral to membrane|plasma membrane choline transmembrane transporter activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1) 23 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) CTTTTGCACAGGTGTTAGTGG 0.393000 4 74 0.000602214 0.000747391 1 1 0 GALR1 2587 broad.mit.edu 37 18 74980670 74980670 + Missense_Mutation SNP G G T rs149816752 TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr18:74980670G>T ENST00000299727.3 + 3 862 c.862G>T c.(862-864)Gcc>Tcc p.A288S NM_001480.3 NP_001471.2 P47211 GALR1_HUMAN galanin receptor 1 288 digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity p.A288T(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) CAGAATCACCGCCCACTGCCT 0.498000 4 56 0.150653 0.159854 1 1 0 FAM135A 57579 broad.mit.edu 37 6 71190694 71190694 + Silent SNP C C A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr6:71190694C>A ENST00000418814.2 + 9 1247 c.633C>A c.(631-633)gtC>gtA p.V211V FAM135A_ENST00000505868.1_Silent_p.V211V|FAM135A_ENST00000505769.1_Silent_p.V211V|FAM135A_ENST00000457062.2_Silent_p.V168V|FAM135A_ENST00000370479.3_Silent_p.V168V|FAM135A_ENST00000361499.3_Silent_p.V211V NM_001105531.2|NM_001162529.1 NP_001099001.1|NP_001156001.1 Q9P2D6 F135A_HUMAN family with sequence similarity 135, member A 211 breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 AAAGTGTGGTCTTTGGTATTA 0.343000 3 31 1 1 1 1 0 TMEM82 388595 broad.mit.edu 37 1 16073511 16073511 + Missense_Mutation SNP G G A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr1:16073511G>A ENST00000375782.1 + 5 1045 c.907G>A c.(907-909)Gtg>Atg p.V303M RP11-169K16.4_ENST00000418525.1_RNA NM_001013641.1 NP_001013663.1 A0PJX8 TMM82_HUMAN transmembrane protein 82 303 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1) 13 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTGGTGTCTCGTGGGCGTCCG 0.642000 5 65 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179641214 179641214 + Missense_Mutation SNP T T C TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr2:179641214T>C ENST00000589042.1 - 28 5601 c.5377A>G c.(5377-5379)Att>Gtt p.I1793V TTN_ENST00000591111.1_Missense_Mutation_p.I1793V|TTN_ENST00000460472.2_Missense_Mutation_p.I1747V|TTN_ENST00000359218.5_Missense_Mutation_p.I1747V|TTN_ENST00000342992.6_Missense_Mutation_p.I1793V|TTN_ENST00000342175.6_Missense_Mutation_p.I1747V|TTN_ENST00000360870.5_Missense_Mutation_p.I1793V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1546 Ig-like 8. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTTTAACAATAAGGGTAGCA 0.418000 6 52 0 0 1 0 0 RNF214 257160 broad.mit.edu 37 11 117152669 117152669 + Silent SNP C C T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr11:117152669C>T ENST00000530849.1 + 10 940 c.930C>T c.(928-930)ttC>ttT p.F310F RNF214_ENST00000531452.1_Silent_p.F465F|RNF214_ENST00000300650.4_Silent_p.F465F|RNF214_ENST00000531287.1_Silent_p.F310F|RNF214_ENST00000524917.1_Intron Q8ND24 RN214_HUMAN ring finger protein 214 465 zinc ion binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) GGATGCCCTTCTCCATTGGGC 0.562000 7 193 0 0 1 0 0 ABL2 27 broad.mit.edu 37 1 179087812 179087812 + Missense_Mutation SNP C C T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr1:179087812C>T ENST00000502732.1 - 7 1336 c.1133G>A c.(1132-1134)cGa>cAa p.R378Q ABL2_ENST00000367623.4_Missense_Mutation_p.R357Q|ABL2_ENST00000512653.1_Missense_Mutation_p.R363Q|ABL2_ENST00000344730.3_Missense_Mutation_p.R363Q|ABL2_ENST00000392043.3_Missense_Mutation_p.R357Q|ABL2_ENST00000408940.3_Missense_Mutation_p.R342Q|ABL2_ENST00000504405.1_Missense_Mutation_p.R342Q|ABL2_ENST00000507173.1_Missense_Mutation_p.R357Q|ABL2_ENST00000511413.1_Missense_Mutation_p.R378Q NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 378 Protein kinase. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.R342Q(1) breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) CACCTCTTCTCGGTTGCATTC 0.428000 T ETV6 AML 4 112 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144923778 144923778 + Missense_Mutation SNP T T C TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr1:144923778T>C ENST00000529945.1 - 2 1608 c.1169A>G c.(1168-1170)cAt>cGt p.H390R PDE4DIP_ENST00000369351.3_Missense_Mutation_p.H227R|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.H227R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.H227R|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.H364R|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.H227R|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.H390R|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.H293R|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.H364R|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.H14R Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 227 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AGTGGTCTCATGTGAATTCAG 0.438000 T PDGFRB MPD 5 118 0 0 1 0 0 GOLGA2 2801 broad.mit.edu 37 9 131028097 131028097 + Missense_Mutation SNP G G A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr9:131028097G>A ENST00000421699.2 - 10 727 c.715C>T c.(715-717)Cac>Tac p.H239Y NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 239 Golgi cisterna membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 TGCTGAGTGTGAGCCAGGGCT 0.522000 5 51 0 0 1 0 0 SLTM 79811 broad.mit.edu 37 15 59186750 59186750 + Missense_Mutation SNP C C T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr15:59186750C>T ENST00000380516.2 - 10 1346 c.1259G>A c.(1258-1260)cGa>cAa p.R420Q SLTM_ENST00000536328.1_5'UTR NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 420 RRM. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CCCAGGACTTCGAGCATTTGT 0.413000 4 109 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90074814 90074814 + Missense_Mutation SNP G G C TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr5:90074814G>C ENST00000405460.2 + 64 13078 c.12982G>C c.(12982-12984)Gag>Cag p.E4328Q NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4328 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) TGAAGCAGGGGAGATGAGGAA 0.493000 5 70 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55996638 55996638 + Missense_Mutation SNP G G T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr10:55996638G>T ENST00000373965.2 - 9 1324 c.930C>A c.(928-930)gaC>gaA p.D310E PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.D310E|PCDH15_ENST00000395433.1_Missense_Mutation_p.D288E|PCDH15_ENST00000414778.1_Missense_Mutation_p.D315E|PCDH15_ENST00000373957.3_Missense_Mutation_p.D288E|PCDH15_ENST00000361849.3_Missense_Mutation_p.D310E|PCDH15_ENST00000395438.1_Missense_Mutation_p.D310E|PCDH15_ENST00000395440.1_Missense_Mutation_p.D310E|PCDH15_ENST00000395446.1_Missense_Mutation_p.D310E|PCDH15_ENST00000395442.1_Missense_Mutation_p.D310E|PCDH15_ENST00000395430.1_Missense_Mutation_p.D310E|PCDH15_ENST00000437009.1_Missense_Mutation_p.D310E|PCDH15_ENST00000320301.6_Missense_Mutation_p.D310E|PCDH15_ENST00000395432.2_Missense_Mutation_p.D273E|PCDH15_ENST00000373955.1_Missense_Mutation_p.D310E NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 310 Cadherin 3. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GAATATTCCGGTCCTGATCAA 0.383000 HNSCC(58;0.16) 8 113 5.50884e-06 7.36277e-06 1 1 0 COL4A5 1287 broad.mit.edu 37 X 107924145 107924145 + Missense_Mutation SNP C C T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chrX:107924145C>T ENST00000328300.6 + 46 4290 c.4046C>T c.(4045-4047)tCa>tTa p.S1349L COL4A5_ENST00000361603.2_Missense_Mutation_p.S1343L NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1343 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GTACCTGGATCAGCTGGCCCT 0.448000 Alport syndrome with Diffuse Leiomyomatosis 5 127 0 0 1 0 0 GDF6 392255 broad.mit.edu 37 8 97157676 97157676 + Silent SNP C C A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr8:97157676C>A ENST00000287020.5 - 2 582 c.483G>T c.(481-483)ctG>ctT p.L161L NM_001001557.2 NP_001001557.1 Q6KF10 GDF6_HUMAN growth differentiation factor 6 161 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 Breast(36;2.67e-05) CCGCGCCCACCAGCTCTTCTT 0.592000 3 15 0.115264 0.124199 1 1 0 ERAS 3266 broad.mit.edu 37 X 48687656 48687656 + Missense_Mutation SNP G G T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chrX:48687656G>T ENST00000338270.1 + 1 374 c.123G>T c.(121-123)gaG>gaT p.E41D NM_181532.2 NP_853510.1 Q7Z444 RASE_HUMAN ES cell expressed Ras 41 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 14 AGCTGCCTGAGTACAAGGCTG 0.662000 4 20 0.00116845 0.00141229 1 1 0 FDPS 2224 broad.mit.edu 37 1 155289624 155289624 + Missense_Mutation SNP G G C TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr1:155289624G>C ENST00000356657.6 + 10 1126 c.964G>C c.(964-966)Ggc>Cgc p.G322R FDPS_ENST00000368356.4_Missense_Mutation_p.G322R|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|FDPS_ENST00000447866.1_Missense_Mutation_p.G256R NM_001135821.1 NP_001129293.1 P14324 FPPS_HUMAN farnesyl diphosphate synthase 322 cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process cytosol|nucleus dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399) CAGTGTGACCGGCAAAATTGG 0.572000 10 199 0 0 1 0 0 H6PD 9563 broad.mit.edu 37 1 9307143 9307143 + Splice_Site SNP G G T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr1:9307143G>T ENST00000377403.2 + 3 1047 c.e3+1 H6PD_ENST00000602477.1_Splice_Site NM_004285.3 NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) GATGCTGAAGGTGTGTGAGTG 0.622000 3 51 0.004672 0.00541173 1 1 0 MURC 347273 broad.mit.edu 37 9 103340492 103340492 + Missense_Mutation SNP G G C TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr9:103340492G>C ENST00000307584.5 + 1 132 c.67G>C c.(67-69)Gaa>Caa p.E23Q NM_001018116.1 NP_001018126.1 Q5BKX8 MURC_HUMAN muscle-related coiled-coil protein 23 cell differentiation|muscle organ development|transcription, DNA-dependent endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1) 16 Acute lymphoblastic leukemia(62;0.0461) GAGTGTTACAGAAGATGAAGA 0.443000 4 48 0 0 1 0 0 SUPT16H 11198 broad.mit.edu 37 14 21833093 21833093 + Missense_Mutation SNP C C A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr14:21833093C>A ENST00000216297.2 - 10 1464 c.1126G>T c.(1126-1128)Gtt>Ttt p.V376F NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 376 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) ATGCTGAAAACCATTCCTAAA 0.413000 3 26 0.000602214 0.000747391 1 1 0 NIPBL 25836 broad.mit.edu 37 5 37020711 37020711 + Nonsense_Mutation SNP G G T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr5:37020711G>T ENST00000282516.8 + 26 5660 c.5161G>T c.(5161-5163)Gaa>Taa p.E1721* NIPBL_ENST00000448238.2_Nonsense_Mutation_p.E1721* NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1721 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GCATCGAGCTGAAAACCGAAA 0.343000 3 51 0.184627 0.192956 1 1 0 WDR70 55100 broad.mit.edu 37 5 37479982 37479982 + Missense_Mutation SNP C C G TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr5:37479982C>G ENST00000265107.4 + 8 889 c.733C>G c.(733-735)Ctt>Gtt p.L245V WDR70_ENST00000510699.1_3'UTR|WDR70_ENST00000504564.1_Missense_Mutation_p.L245V NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 245 central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGACATGATTCTTGTTGTATC 0.373000 4 86 0 0 1 0 0 CREB5 9586 broad.mit.edu 37 7 28610044 28610044 + Missense_Mutation SNP G G T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr7:28610044G>T ENST00000357727.2 + 5 743 c.353G>T c.(352-354)aGc>aTc p.S118I CREB5_ENST00000409603.1_Missense_Mutation_p.S85I|CREB5_ENST00000396299.2_Missense_Mutation_p.S85I|CREB5_ENST00000396300.2_Missense_Mutation_p.S111I NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 118 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 CACCAGCTTAGCAGCGCTCGG 0.577000 13 115 9.31168e-06 1.23269e-05 1 1 0 NPC1L1 29881 broad.mit.edu 37 7 44575483 44575483 + Missense_Mutation SNP T T A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr7:44575483T>A ENST00000289547.4 - 5 1994 c.1939A>T c.(1939-1941)Atc>Ttc p.I647F NPC1L1_ENST00000423141.1_Missense_Mutation_p.I647F|NPC1L1_ENST00000381160.3_Missense_Mutation_p.I647F|NPC1L1_ENST00000546276.1_Missense_Mutation_p.I647F NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 647 SSD. cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) GCCAGAGAGATGTACAGGAAT 0.572000 8 86 0 0 1 0 0 IKBKE 9641 broad.mit.edu 37 1 206667324 206667324 + Splice_Site SNP G G A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr1:206667324G>A ENST00000367120.3 + 21 2490 c.2117_splice c.e21+1 p.R706_splice IKBKE_ENST00000537984.1_Splice_Site_p.R621_splice|IKBKE_ENST00000462698.1_3'UTR|C1orf147_ENST00000367119.1_Intron NM_001193322.1|NM_014002.3 NP_001180251.1|NP_054721.1 Q14164 IKKE_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon 706 DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2) 32 Breast(84;0.137) ATCATCGAACGGTAAGGAGCT 0.597000 3 59 0 0 1 0 0 SUPT16H 11198 broad.mit.edu 37 14 21833094 21833094 + Missense_Mutation SNP C C A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr14:21833094C>A ENST00000216297.2 - 10 1463 c.1125G>T c.(1123-1125)atG>atT p.M375I NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 375 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) TGCTGAAAACCATTCCTAAAA 0.418000 3 26 0.000602214 0.000747391 1 1 0 CELF1 10658 broad.mit.edu 37 11 47496933 47496933 + Missense_Mutation SNP G G C TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr11:47496933G>C ENST00000395290.2 - 10 1150 c.1141C>G c.(1141-1143)Ctt>Gtt p.L381V CELF1_ENST00000361904.3_Missense_Mutation_p.L379V|CELF1_ENST00000532048.1_Missense_Mutation_p.L408V|CELF1_ENST00000531165.1_Missense_Mutation_p.L410V|CELF1_ENST00000310513.5_Missense_Mutation_p.L378V|CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000358597.3_Missense_Mutation_p.L382V|CELF1_ENST00000395292.2_Missense_Mutation_p.L379V NM_001025596.2|NM_001172640.1 NP_001020767.1|NP_001166111.1 Q92879 CELF1_HUMAN CUGBP, Elav-like family member 1 382 embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference cytoplasm|nucleus|ribonucleoprotein complex BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2) 18 TGTGTCAGAAGATTCTGGTTG 0.567000 3 57 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169145522 169145522 + Missense_Mutation SNP C C T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr4:169145522C>T ENST00000393743.3 - 35 4987 c.4696G>A c.(4696-4698)Gaa>Aaa p.E1566K NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1566 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TCTTCACATTCTTTACCTGTG 0.368000 5 29 0 0 1 0 0 HIPK1 204851 broad.mit.edu 37 1 114505025 114505025 + Missense_Mutation SNP C C G TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr1:114505025C>G ENST00000369558.1 + 9 2300 c.2068C>G c.(2068-2070)Cag>Gag p.Q690E HIPK1_ENST00000369553.1_Missense_Mutation_p.Q296E|HIPK1_ENST00000369559.4_Missense_Mutation_p.Q690E|HIPK1_ENST00000426820.2_Missense_Mutation_p.Q690E|HIPK1_ENST00000369561.4_Missense_Mutation_p.Q656E|HIPK1_ENST00000406344.1_Missense_Mutation_p.Q296E|HIPK1_ENST00000340480.4_Missense_Mutation_p.Q316E|HIPK1_ENST00000369554.2_Missense_Mutation_p.Q690E|HIPK1_ENST00000369555.2_Missense_Mutation_p.Q690E Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 690 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ACCAGCTGCTCAGCCACTACA 0.443000 4 64 0 0 1 0 0 TRAK2 66008 broad.mit.edu 37 2 202245569 202245569 + Missense_Mutation SNP C C A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr2:202245569C>A ENST00000332624.3 - 16 2870 c.2442G>T c.(2440-2442)gaG>gaT p.E814D NM_015049.2 NP_055864.2 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 814 Missing (in Ref. 2). early endosome|plasma membrane GABA receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 AGCCATACATCTCCTGGAGGA 0.517000 4 85 0.00024832 0.000319597 1 1 0 SPANXN3 139067 broad.mit.edu 37 X 142596947 142596947 + Missense_Mutation SNP C C G TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chrX:142596947C>G ENST00000370503.2 - 2 206 c.123G>C c.(121-123)ttG>ttC p.L41F GS1-256O22.5_ENST00000431432.1_RNA NM_001009609.2 NP_001009609.1 Q5MJ09 SPXN3_HUMAN SPANX family, member N3 41 endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) TTGTCTTCTTCAAACTCTGTT 0.378000 7 48 0 0 1 0 0 CYBB 1536 broad.mit.edu 37 X 37670072 37670072 + Missense_Mutation SNP C C A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chrX:37670072C>A ENST00000378588.4 + 13 1682 c.1615C>A c.(1615-1617)Cct>Act p.P539T TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.P507T|CYBB_ENST00000536160.1_Missense_Mutation_p.P272T NM_000397.3 NP_000388.2 P04839 CY24B_HUMAN cytochrome b-245, beta polypeptide 539 electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2) 32 CCTCTGTGGACCTGAAGCCTT 0.418000 4 41 0.0215528 0.0237765 1 1 0 GABRQ 55879 broad.mit.edu 37 X 151815583 151815583 + Missense_Mutation SNP C C G TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chrX:151815583C>G ENST00000370306.2 + 4 501 c.481C>G c.(481-483)Cgc>Ggc p.R161G NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 161 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) TGTGGAGAATCGCGTGTTTCA 0.542000 8 76 0 0 1 0 0 ZFP36L1 677 broad.mit.edu 37 14 69256498 69256498 + Nonsense_Mutation SNP C C A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr14:69256498C>A ENST00000439696.2 - 2 1070 c.769G>T c.(769-771)Gag>Tag p.E257* ZFP36L1_ENST00000336440.3_Nonsense_Mutation_p.E257*|ZFP36L1_ENST00000555997.1_3'UTR NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 257 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E257*(1) breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) CTTGCCAGCTCCTGGCTGGAG 0.632000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 100 1.12685e-05 1.47766e-05 1 1 0 PFKFB1 5207 broad.mit.edu 37 X 54987318 54987318 + Missense_Mutation SNP C C A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chrX:54987318C>A ENST00000375006.3 - 3 326 c.256G>T c.(256-258)Gtg>Ttg p.V86L PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Missense_Mutation_p.V21L NM_002625.2 NP_002616.2 P16118 F261_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 86 6-phosphofructo-2-kinase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1) 24 TTGTAGCTCACTGCCTCTCGT 0.458000 6 53 1.06961e-07 1.47204e-07 1 1 0 EPN2 22905 broad.mit.edu 37 17 19235181 19235181 + Missense_Mutation SNP C C G TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr17:19235181C>G ENST00000314728.5 + 10 1911 c.1427C>G c.(1426-1428)tCt>tGt p.S476C EPN2_ENST00000575595.1_Missense_Mutation_p.S184C|EPN2_ENST00000571254.1_Missense_Mutation_p.S412C|EPN2_ENST00000395618.3_Missense_Mutation_p.S191C|EPN2_ENST00000347697.2_Missense_Mutation_p.S419C|EPN2_ENST00000395620.2_Missense_Mutation_p.S419C|EPN2_ENST00000395626.1_Intron NM_014964.4 NP_055779.2 O95208 EPN2_HUMAN epsin 2 476 6 X 3 AA repeats of [DE]-P-W. endocytosis lipid binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) TCTGTGACCTCTCTGCCATCC 0.537000 6 120 0 0 1 0 0 SFMBT2 57713 broad.mit.edu 37 10 7423801 7423801 + Missense_Mutation SNP C C A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr10:7423801C>A ENST00000361972.4 - 2 150 c.60G>T c.(58-60)aaG>aaT p.K20N SFMBT2_ENST00000397167.1_Missense_Mutation_p.K20N|SFMBT2_ENST00000379711.2_Missense_Mutation_p.K20N|SFMBT2_ENST00000397160.3_Missense_Mutation_p.K20N|SFMBT2_ENST00000379713.3_Missense_Mutation_p.K20N NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 20 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 AGCCGAGACACTTTTCCAAGG 0.418000 4 53 0.217242 0.223679 1 1 0 EDC4 23644 broad.mit.edu 37 16 67912493 67912493 + Missense_Mutation SNP G G C TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr16:67912493G>C ENST00000358933.5 + 10 1382 c.1143G>C c.(1141-1143)aaG>aaC p.K381N EDC4_ENST00000574770.1_3'UTR NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 381 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) GAGAGTTAAAGATGTGGTGTA 0.577000 4 89 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12655842 12655842 + Missense_Mutation SNP C C A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr17:12655842C>A ENST00000425538.1 + 10 1437 c.1237C>A c.(1237-1239)Ccg>Acg p.P413T MYOCD_ENST00000343344.4_Missense_Mutation_p.P413T|MYOCD_ENST00000395988.1_Missense_Mutation_p.P317T NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 413 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CAACCCAGTGCCGAACTTTGG 0.547000 7 71 0.000442599 0.000564416 1 1 0 A2ML1 144568 broad.mit.edu 37 12 9000230 9000230 + Missense_Mutation SNP C C T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr12:9000230C>T ENST00000299698.7 + 15 1949 c.1769C>T c.(1768-1770)gCg>gTg p.A590V A2ML1_ENST00000539547.1_Missense_Mutation_p.A99V|A2ML1_ENST00000540049.1_3'UTR NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 434 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 TCCCTGTGTGCGCTCCGGGCG 0.607000 6 140 0 0 1 0 0 SLC39A4 55630 broad.mit.edu 37 8 145638202 145638202 + Missense_Mutation SNP C C T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr8:145638202C>T ENST00000276833.5 - 10 1984 c.1681G>A c.(1681-1683)Gag>Aag p.E561K SLC39A4_ENST00000301305.3_Missense_Mutation_p.E586K|SLC39A4_ENST00000531013.1_5'UTR NM_017767.2 NP_060237.2 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), member 4 586 cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 14 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) ATCCAGGCCTCGCTCTCCTCG 0.672000 4 38 0 0 1 0 0 QRICH1 54870 broad.mit.edu 37 3 49094711 49094711 + Missense_Mutation SNP T T A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr3:49094711T>A ENST00000395443.2 - 3 1394 c.922A>T c.(922-924)Acc>Tcc p.T308S QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000357496.2_Missense_Mutation_p.T308S|QRICH1_ENST00000424300.1_Missense_Mutation_p.T308S NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 308 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) ATGGTCCAGGTTTCTCCTGTA 0.552000 5 42 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45719307 45719307 + Splice_Site SNP G G A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr7:45719307G>A ENST00000297323.7 + 11 1920 c.e11-1 NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) CTGTCCCCCAGGAGTGTGGTC 0.582000 5 65 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153249469 153249469 + Nonsense_Mutation SNP C C A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr4:153249469C>A ENST00000281708.4 - 9 2538 c.1309G>T c.(1309-1311)Gga>Tga p.G437* FBXW7_ENST00000603841.1_Nonsense_Mutation_p.G437*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.G261*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.G357*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.G319*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.G437* NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 437 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.G437R(2)|p.G357R(1)|p.?(1)|p.G198R(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TCTGTAGATCCACTAATGATG 0.408000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 13 126 6.72482e-11 9.6366e-11 1 1 0 ZNF527 84503 broad.mit.edu 37 19 37880228 37880228 + Missense_Mutation SNP G G C TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr19:37880228G>C ENST00000436120.2 + 5 1384 c.1277G>C c.(1276-1278)cGc>cCc p.R426P ZNF527_ENST00000587349.1_Intron NM_032453.1 NP_115829.1 Q8NB42 ZN527_HUMAN zinc finger protein 527 426 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTCAGCAGACGCATAGCCCTT 0.438000 6 31 0 0 1 0 0 HDAC4 9759 broad.mit.edu 37 2 240036977 240036977 + Silent SNP C C T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr2:240036977C>T ENST00000345617.3 - 13 2339 c.1548G>A c.(1546-1548)cgG>cgA p.R516R HDAC4_ENST00000541256.1_Silent_p.R490R|HDAC4_ENST00000543185.1_Silent_p.R100R NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 516 B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) TCTCCGGCTGCCGGGCTGGCT 0.647000 9 85 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 5 32 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19704408 19704408 + Silent SNP C C A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr21:19704408C>A ENST00000284885.3 - 14 1680 c.1647G>T c.(1645-1647)ctG>ctT p.L549L NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 549 CUB 2. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 CACAGAAAGCCAGATTAGGGT 0.413000 4 41 0.00116845 0.00141229 1 1 0 KRT31 3881 broad.mit.edu 37 17 39551619 39551619 + Missense_Mutation SNP C C G TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr17:39551619C>G ENST00000251645.2 - 5 806 c.754G>C c.(754-756)Gag>Cag p.E252Q NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 252 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) TTCAGCTCCTCGGTCTGAAAC 0.622000 4 100 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43625405 43625405 + Missense_Mutation SNP C C G TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr9:43625405C>G ENST00000332857.6 - 4 3310 c.3282G>C c.(3280-3282)aaG>aaC p.K1094N NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 GCCTTTGGCTCTTGCATGAGC 0.502000 9 58 0 0 1 0 0 CHST1 8534 broad.mit.edu 37 11 45671711 45671711 + Silent SNP G G T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr11:45671711G>T ENST00000308064.2 - 4 1433 c.763C>A c.(763-765)Cgg>Agg p.R255R NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 255 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) TACCAGAGCCGCCAGAGCCGG 0.637000 7 74 0.0293803 0.0319052 1 1 0 LCLAT1 253558 broad.mit.edu 37 2 30863132 30863132 + Nonsense_Mutation SNP G G T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr2:30863132G>T ENST00000309052.4 + 7 1101 c.892G>T c.(892-894)Gag>Tag p.E298* LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000540623.1_Nonsense_Mutation_p.E260*|LCLAT1_ENST00000379509.3_Nonsense_Mutation_p.E260* NM_182551.3 NP_872357.2 Q6UWP7 LCLT1_HUMAN lysocardiolipin acyltransferase 1 298 multicellular organismal development|phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2) 19 CACATCCAAGGAGGACCTTCA 0.498000 4 40 0.00909568 0.0103631 1 1 0 SV2C 22987 broad.mit.edu 37 5 75427582 75427582 + Missense_Mutation SNP G G T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr5:75427582G>T ENST00000502798.2 + 2 449 c.7G>T c.(7-9)Gac>Tac p.D3Y SV2C_ENST00000322285.7_Missense_Mutation_p.D3Y NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 3 Interaction with SYT1 (By similarity). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) TAAGATGGAAGACTCTTACAA 0.453000 3 34 1 1 1 1 0 HSD17B10 3028 broad.mit.edu 37 X 53459279 53459279 + Missense_Mutation SNP A A C TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chrX:53459279A>C ENST00000168216.6 - 3 300 c.273T>G c.(271-273)tgT>tgG p.C91W HSD17B10_ENST00000375298.4_Missense_Mutation_p.C91W|HSD17B10_ENST00000375304.5_Missense_Mutation_p.C91W|HSD17B10_ENST00000495986.1_5'UTR NM_001037811.2|NM_004493.2 NP_001032900.1|NP_004484.1 Q99714 HCD2_HUMAN hydroxysteroid (17-beta) dehydrogenase 10 91 branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing mitochondrial matrix|plasma membrane 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1) 8 NADH(DB00157) CGATGCCTGCACAGTTGACAG 0.502000 4 36 0 0 1 0 0 KIAA1324 57535 broad.mit.edu 37 1 109740164 109740164 + Silent SNP C C T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr1:109740164C>T ENST00000369939.3 + 16 2373 c.2190C>T c.(2188-2190)ttC>ttT p.F730F KIAA1324_ENST00000529753.1_Silent_p.F643F|KIAA1324_ENST00000369938.1_3'UTR NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 730 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) AGTCAGGGTTCTCCAAATCTA 0.562000 4 58 0 0 1 0 0 UPF3B 65109 broad.mit.edu 37 X 118968899 118968899 + Missense_Mutation SNP G G T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chrX:118968899G>T ENST00000276201.2 - 11 1463 c.1394C>A c.(1393-1395)gCa>gAa p.A465E UPF3B_ENST00000345865.2_Missense_Mutation_p.A452E NM_080632.2 NP_542199.1 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B (yeast) 465 Sufficient for association with EJC core. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1) 30 CCTTTCTGCTGCTGAATCTCC 0.517000 13 195 6.31663e-08 8.78011e-08 1 1 0 PRR19 284338 broad.mit.edu 37 19 42814725 42814725 + Missense_Mutation SNP G G A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr19:42814725G>A ENST00000499536.2 + 2 1715 c.904G>A c.(904-906)Ggg>Agg p.G302R PRR19_ENST00000598490.1_3'UTR|PRR19_ENST00000341747.3_Missense_Mutation_p.G302R A6NJB7 PRR19_HUMAN proline rich 19 302 Pro-rich. NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 10 Prostate(69;0.00682) TCGGCCCTGGGGGGTTGGCCT 0.647000 7 166 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201052309 201052309 + Silent SNP G G A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr1:201052309G>A ENST00000362061.3 - 10 1600 c.1374C>T c.(1372-1374)ctC>ctT p.L458L CACNA1S_ENST00000367338.3_Silent_p.L458L NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 458 L -> H (in dbSNP:rs12742169). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GGGTCAGCCAGAGAGGCTGGT 0.562000 4 50 0 0 1 0 0 GDPD2 54857 broad.mit.edu 37 X 69645308 69645308 + Splice_Site SNP G G T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chrX:69645308G>T ENST00000453994.2 + 3 570 c.e3+1 GDPD2_ENST00000374382.3_Splice_Site|GDPD2_ENST00000538649.1_Intron|GDPD2_ENST00000536730.1_Splice_Site NM_001171192.1 NP_001164663.1 Q9HCC8 GDPD2_HUMAN glycerophosphodiester phosphodiesterase domain containing 2 glycerol metabolic process|lipid metabolic process cytoplasm|cytoskeleton|integral to membrane|plasma membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2) 22 Renal(35;0.156) ACTTCAATGAGTGTGTCATGG 0.592000 10 128 4.68919e-08 6.58381e-08 1 1 0 MAMLD1 10046 broad.mit.edu 37 X 149639245 149639245 + Missense_Mutation SNP G G T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chrX:149639245G>T ENST00000370401.2 + 4 1710 c.1400G>T c.(1399-1401)gGc>gTc p.G467V MAMLD1_ENST00000426613.2_Missense_Mutation_p.G442V|MAMLD1_ENST00000262858.5_Missense_Mutation_p.G467V|MAMLD1_ENST00000432680.2_Missense_Mutation_p.G442V Q13495 MAMD1_HUMAN mastermind-like domain containing 1 467 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) TCTAGCCCAGGCTTGCCACAG 0.587000 11 109 2.27111e-07 3.0649e-07 1 1 0 WAC 51322 broad.mit.edu 37 10 28905206 28905206 + Nonsense_Mutation SNP C C G TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr10:28905206C>G ENST00000375664.3 + 12 2135 c.1526C>G c.(1525-1527)tCa>tGa p.S509* WAC_ENST00000354911.4_Nonsense_Mutation_p.S554*|WAC_ENST00000375646.1_Nonsense_Mutation_p.S402*|WAC_ENST00000347934.4_Nonsense_Mutation_p.S451* Q9BTA9 WAC_HUMAN WW domain containing adaptor with coiled-coil 554 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding p.S554*(1) NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1) 32 TCCACGTGTTCATTAACGCCT 0.438000 3 60 0 0 1 0 0 TIMM44 10469 broad.mit.edu 37 19 7992608 7992608 + Silent SNP G G A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr19:7992608G>A ENST00000270538.3 - 12 1441 c.1173C>T c.(1171-1173)atC>atT p.I391I TIMM44_ENST00000598968.1_5'UTR NM_006351.3 NP_006342.2 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 homolog (yeast) 391 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 17 CCTGGAAGGTGATGATCAGCA 0.652000 7 120 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169511400 169511400 + Missense_Mutation SNP C C G TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr1:169511400C>G ENST00000367796.3 - 13 3144 c.2943G>C c.(2941-2943)caG>caC p.Q981H F5_ENST00000367797.3_Missense_Mutation_p.Q976H P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 976 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GTGAGGCATTCTGGGGGCTGA 0.473000 4 96 0 0 1 0 0 GLDC 2731 broad.mit.edu 37 9 6620296 6620296 + Missense_Mutation SNP G G C TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr9:6620296G>C ENST00000321612.6 - 3 508 c.358C>G c.(358-360)Ctg>Gtg p.L120V NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 120 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) ATGGCATGCAGAGTTGCAAGG 0.393000 3 42 0 0 1 0 0 DUSP26 78986 broad.mit.edu 37 8 33451072 33451072 + Missense_Mutation SNP G G C TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr8:33451072G>C ENST00000256261.4 - 3 932 c.415C>G c.(415-417)Cgg>Ggg p.R139G DUSP26_ENST00000523956.1_Missense_Mutation_p.R139G NM_024025.1 NP_076930.1 Q9BV47 DUS26_HUMAN dual specificity phosphatase 26 (putative) 139 Tyrosine-protein phosphatase. Golgi apparatus|nucleus protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1) 15 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) CTCAGCGCCCGGTGGATGAAG 0.607000 7 55 0 0 1 0 0 AGAP5 729092 broad.mit.edu 37 10 75457451 75457451 + Silent SNP C C T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr10:75457451C>T ENST00000443782.2 - 1 188 c.63G>A c.(61-63)caG>caA p.Q21Q AGAP5_ENST00000374094.4_Silent_p.Q21Q|RP11-464F9.1_ENST00000399449.3_RNA A6NIR3 AGAP5_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 21 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1) 12 ACACCGACCCCTGTTGCTGGT 0.607000 5 78 0 0 1 0 0 ZNF860 344787 broad.mit.edu 37 3 32032046 32032046 + Missense_Mutation SNP G G A rs143925165 by1000genomes TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr3:32032046G>A ENST00000360311.4 + 2 2024 c.1475G>A c.(1474-1476)cGt>cAt p.R492H NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 492 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 AAGACCTTCCGTCACAATTCA 0.403000 4 93 0 0 1 0 0 KRTAP19-4 337971 broad.mit.edu 37 21 31869328 31869328 + Missense_Mutation SNP C C G TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr21:31869328C>G ENST00000334058.2 - 1 123 c.101G>C c.(100-102)aGa>aCa p.R34T NM_181610.1 NP_853641.1 Q3LI73 KR194_HUMAN keratin associated protein 19-4 34 intermediate filament p.R34K(1) central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 ATAACCCAGTCTGCGGAAGCT 0.527000 9 163 0 0 1 0 0 PPP2R5D 5528 broad.mit.edu 37 6 42974779 42974779 + Missense_Mutation SNP G G C TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr6:42974779G>C ENST00000485511.1 + 4 632 c.453G>C c.(451-453)gaG>gaC p.E151D PPP2R5D_ENST00000461010.1_Missense_Mutation_p.E45D|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.E119D|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.E143D NM_001270476.1|NM_006245.3 NP_001257405.1|NP_006236.1 Q14738 2A5D_HUMAN protein phosphatase 2, regulatory subunit B', delta 151 nervous system development|signal transduction cytoplasm|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 25 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GACTCAACGAGATGGTGGAGT 0.542000 6 77 0 0 1 0 0 YY1AP1 55249 broad.mit.edu 37 1 155638451 155638451 + Silent SNP G G A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr1:155638451G>A ENST00000368340.5 - 8 1308 c.1200C>T c.(1198-1200)ctC>ctT p.L400L YY1AP1_ENST00000535662.1_Silent_p.L128L|YY1AP1_ENST00000404643.1_Silent_p.L262L|YY1AP1_ENST00000355499.4_Silent_p.L282L|YY1AP1_ENST00000295566.4_Silent_p.L328L|YY1AP1_ENST00000407221.1_Silent_p.L251L|YY1AP1_ENST00000405763.3_Silent_p.L420L|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368330.2_Silent_p.L282L|YY1AP1_ENST00000368339.5_Silent_p.L420L|YY1AP1_ENST00000359205.5_Silent_p.L271L|YY1AP1_ENST00000347088.5_Silent_p.L282L|YY1AP1_ENST00000361831.5_Silent_p.L271L|YY1AP1_ENST00000311573.5_Silent_p.L251L|MSTO1_ENST00000538143.1_Intron NM_001198904.1 NP_001185833.1 YY1 associated protein 1 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2) 31 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) TGTTCATGTTGAGGTTCTTGA 0.433000 6 103 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181701970 181701970 + Missense_Mutation SNP G G C TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr1:181701970G>C ENST00000526775.1 + 19 2856 c.2691G>C c.(2689-2691)caG>caC p.Q897H CACNA1E_ENST00000357570.5_Missense_Mutation_p.Q867H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.Q523H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.Q848H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.Q897H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.Q916H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.Q916H NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 916 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GGCACAGGCAGAGCCAACGGC 0.662000 6 91 0 0 1 0 0 ZNF433 163059 broad.mit.edu 37 19 12127013 12127013 + Silent SNP C C T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr19:12127013C>T ENST00000419886.2 - 5 855 c.564G>A c.(562-564)gaG>gaA p.E188E CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|ZNF433_ENST00000344980.6_Silent_p.E223E|CTD-2006C1.2_ENST00000476474.1_RNA Q8N7K0 ZN433_HUMAN zinc finger protein 433 223 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1) 14 GATATGGTTTCTCTCCAGTGT 0.388000 3 29 0 0 1 0 0 LCN2 3934 broad.mit.edu 37 9 130912526 130912526 + Nonsense_Mutation SNP A A T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr9:130912526A>T ENST00000540948.1 + 2 221 c.148A>T c.(148-150)Aag>Tag p.K50* LCN2_ENST00000372998.1_Nonsense_Mutation_p.K50*|LCN2_ENST00000470902.1_Intron|LCN2_ENST00000277480.2_Nonsense_Mutation_p.K50*|LCN2_ENST00000373013.2_Nonsense_Mutation_p.K50*|LCN2_ENST00000373017.1_Nonsense_Mutation_p.K50* P80188 NGAL_HUMAN lipocalin 2 50 apoptosis|innate immune response|regulation of apoptosis|siderophore transport iron ion binding|transporter activity central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 8 GTTCCAGGGGAAGTGGTATGT 0.557000 4 40 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9048429 9048429 + Missense_Mutation SNP C C G TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr19:9048429C>G ENST00000397910.4 - 5 33405 c.33202G>C c.(33202-33204)Gaa>Caa p.E11068Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11070 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 GGTGTGGTTTCTAGTTCACCA 0.502000 4 48 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 5 48 0 0 1 0 0 ZNF181 339318 broad.mit.edu 37 19 35232973 35232973 + Missense_Mutation SNP G G C TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr19:35232973G>C ENST00000392232.3 + 6 1987 c.1819G>C c.(1819-1821)Gag>Cag p.E607Q ZNF181_ENST00000459757.1_Missense_Mutation_p.E562Q|ZNF181_ENST00000492450.1_Missense_Mutation_p.E563Q Q2M3W8 ZN181_HUMAN zinc finger protein 181 563 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) CTATACATGTGAGAAATCTTA 0.343000 4 78 0 0 1 0 0 ZMYM3 9203 broad.mit.edu 37 X 70467344 70467344 + Missense_Mutation SNP G G T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chrX:70467344G>T ENST00000373998.1 - 13 2862 c.2165C>A c.(2164-2166)gCg>gAg p.A722E ZMYM3_ENST00000314425.5_Missense_Mutation_p.A722E|ZMYM3_ENST00000373984.3_Missense_Mutation_p.A724E|ZMYM3_ENST00000353904.2_Missense_Mutation_p.A722E|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.A724E NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 722 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) GCGCTTACACGCATGGCACCG 0.577000 3 26 0.004672 0.00541173 1 1 0 PLCD4 84812 broad.mit.edu 37 2 219499329 219499329 + Missense_Mutation SNP C C G TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr2:219499329C>G ENST00000450993.2 + 13 2211 c.1872C>G c.(1870-1872)ttC>ttG p.F624L PLCD4_ENST00000417849.1_Missense_Mutation_p.F624L|PLCD4_ENST00000432688.1_Missense_Mutation_p.F656L NM_032726.3 NP_116115.1 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 624 C2. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3) 23 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TCAGCCCTTTCAAAGCCCAGA 0.507000 9 137 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 8 85 0 0 1 0 0 WSCD2 9671 broad.mit.edu 37 12 108641878 108641878 + Missense_Mutation SNP G G T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr12:108641878G>T ENST00000332082.4 + 10 2274 c.1456G>T c.(1456-1458)Gac>Tac p.D486Y WSCD2_ENST00000549903.1_Missense_Mutation_p.D506Y|WSCD2_ENST00000261400.3_Missense_Mutation_p.D506Y|WSCD2_ENST00000547525.1_Missense_Mutation_p.D486Y Q2TBF2 WSCD2_HUMAN WSC domain containing 2 486 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 CCTGAAGCAGGACCTCTTTGT 0.597000 4 64 0.014758 0.0165432 1 1 0 CNTNAP1 8506 broad.mit.edu 37 17 40843218 40843218 + Missense_Mutation SNP C C G TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr17:40843218C>G ENST00000264638.4 + 14 2340 c.2123C>G c.(2122-2124)tCc>tGc p.S708C CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 708 Fibrinogen C-terminal. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) TGGGGAGGCTCCCAGCCTGGG 0.627000 5 106 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237758927 237758927 + Silent SNP C C A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr1:237758927C>A ENST00000366574.2 + 34 4883 c.4566C>A c.(4564-4566)gcC>gcA p.A1522A RYR2_ENST00000542537.1_Silent_p.A1506A|RYR2_ENST00000360064.6_Silent_p.A1520A NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1522 4 X approximate repeats.|B30.2/SPRY 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CATTCATTGCCAATGGCAAGG 0.522000 3 38 0.004672 0.00541173 1 1 0 TRBC2 28638 broad.mit.edu 37 7 142499857 142499857 + RNA SNP T T C TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr7:142499857T>C ENST00000466254.1 + 0 474 GGCCACCTTGTATGCCGTGCT 0.562000 4 54 0 0 1 0 0 ADM 133 broad.mit.edu 37 11 10327981 10327981 + Missense_Mutation SNP G G T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr11:10327981G>T ENST00000526492.1 + 4 545 c.382G>T c.(382-384)Gca>Tca p.A128S ADM_ENST00000534464.1_Silent_p.V70V|ADM_ENST00000528655.1_Silent_p.V117V|ADM_ENST00000525063.1_Silent_p.V117V|ADM_ENST00000278175.5_Silent_p.V117V|ADM_ENST00000530439.1_Silent_p.V49V P35318 ADML_HUMAN adrenomedullin 0 blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding cytoplasm|extracellular space|soluble fraction hormone activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1) 6 all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257) CGTGCACGGTGCAGAAGCTGG 0.647000 5 37 0.184627 0.192956 1 1 0 RAB3C 115827 broad.mit.edu 37 5 58146996 58146996 + Missense_Mutation SNP G G C TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr5:58146996G>C ENST00000282878.4 + 5 671 c.502G>C c.(502-504)Gag>Cag p.E168Q CTD-2176I21.2_ENST00000510198.1_RNA NM_138453.2 NP_612462.1 Q96E17 RAB3C_HUMAN RAB3C, member RAS oncogene family 168 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1) 21 all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664) OV - Ovarian serous cystadenocarcinoma(10;1.8e-34) TCCAGGGTTTGAGTTTTTTGA 0.388000 4 80 0 0 1 0 0 SCML2 10389 broad.mit.edu 37 X 18275119 18275119 + Missense_Mutation SNP C C G TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chrX:18275119C>G ENST00000251900.4 - 11 1464 c.1305G>C c.(1303-1305)caG>caC p.Q435H SCML2_ENST00000398048.3_Missense_Mutation_p.Q171H NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) 435 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) CTGGAGGGAGCTGGATGGAAT 0.418000 4 58 0 0 1 0 0 TNPO3 23534 broad.mit.edu 37 7 128610229 128610229 + Silent SNP G G C TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr7:128610229G>C ENST00000393245.1 - 20 3046 c.2673C>G c.(2671-2673)ctC>ctG p.L891L TNPO3_ENST00000471166.1_Silent_p.L891L|TNPO3_ENST00000482320.1_Silent_p.L791L|TNPO3_ENST00000471234.1_Silent_p.L793L|TNPO3_ENST00000265388.5_Silent_p.L857L NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 857 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 TGATCTCCCAGAGCACTTCAG 0.498000 5 145 0 0 1 0 0 HPSE2 60495 broad.mit.edu 37 10 100481442 100481442 + Missense_Mutation SNP T T C TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr10:100481442T>C ENST00000370552.3 - 5 987 c.928A>G c.(928-930)Agg>Ggg p.R310G HPSE2_ENST00000370549.1_Missense_Mutation_p.R252G|HPSE2_ENST00000404542.1_Missense_Mutation_p.R198G|HPSE2_ENST00000370546.1_Missense_Mutation_p.R310G NM_021828.4 NP_068600.4 Q8WWQ2 HPSE2_HUMAN heparanase 2 310 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 40 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) ACATTCTTCCTCGGCCGCCCA 0.438000 3 38 0 0 1 0 0 NKAP 79576 broad.mit.edu 37 X 119070590 119070590 + Missense_Mutation SNP C C G TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chrX:119070590C>G ENST00000371410.3 - 3 689 c.523G>C c.(523-525)Gct>Cct p.A175P NKAP_ENST00000477789.1_5'UTR NM_024528.3 NP_078804.2 Q8N5F7 NKAP_HUMAN NFKB activating protein 175 negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1) 20 GAAGTAGAAGCTGAAGTAGTG 0.284000 4 36 0 0 1 0 0 ZNF283 284349 broad.mit.edu 37 19 44352229 44352229 + Silent SNP C C T TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr19:44352229C>T ENST00000324461.7 + 7 1773 c.1476C>T c.(1474-1476)tgC>tgT p.C492C ZNF283_ENST00000588797.1_Silent_p.C353C NM_181845.1 NP_862828.1 Q8N7M2 ZN283_HUMAN zinc finger protein 283 492 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) GTAAAGAATGCGGAAAGACCT 0.403000 4 53 0 0 1 0 0 UTP14A 10813 broad.mit.edu 37 X 129053162 129053162 + Silent SNP C C A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chrX:129053162C>A ENST00000394422.3 + 7 577 c.549C>A c.(547-549)ccC>ccA p.P183P UTP14A_ENST00000371042.3_Silent_p.P15P|UTP14A_ENST00000371051.5_Silent_p.P129P|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Silent_p.P131P NM_006649.3 NP_006640.2 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) 183 rRNA processing nucleolus|small-subunit processome protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1) 32 CAAGAACTCCCCTGGAGCAGG 0.453000 5 75 0.0215528 0.0237765 1 1 0 USP51 158880 broad.mit.edu 37 X 55514884 55514884 + Silent SNP C C A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chrX:55514884C>A ENST00000500968.3 - 2 571 c.489G>T c.(487-489)cgG>cgT p.R163R USP51_ENST00000586165.1_Intron NM_201286.3 NP_958443.1 Q70EK9 UBP51_HUMAN ubiquitin specific peptidase 51 163 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 AGCAGCTTCTCCGTGTCTGAG 0.726000 3 22 0.014758 0.0165432 1 1 0 VCAN 1462 broad.mit.edu 37 5 82833291 82833291 + Nonsense_Mutation SNP C C A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr5:82833291C>A ENST00000265077.3 + 8 5034 c.4469C>A c.(4468-4470)tCa>tAa p.S1490* VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Nonsense_Mutation_p.S503*|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1490 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CCTGAAACATCAGAACATTTT 0.438000 6 34 0.00198382 0.00237716 1 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274274 39274274 + Silent SNP A A G TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr17:39274274A>G ENST00000391413.2 - 1 332 c.294T>C c.(292-294)acT>acC p.T98T NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 98 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.C99fs*>97(1)|p.T98T(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ggcggcagcaAGTGGGCTGGC 0.657000 5 80 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55221570 55221570 + RNA SNP A A C TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr19:55221570A>C ENST00000413439.1 + 0 1350 TACAGATGCTACGGTGCACAC 0.677000 3 63 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141215176 141215176 + Nonsense_Mutation SNP C C A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr2:141215176C>A ENST00000389484.3 - 61 10641 c.9670G>T c.(9670-9672)Gaa>Taa p.E3224* NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3224 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATGTAGTCTTCAAACAATGTT 0.428000 TSP Lung(27;0.18) 6 99 8.12818e-05 0.00010559 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113304809 113304809 + Silent SNP G G A rs139968307 byFrequency TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr8:113304809G>A ENST00000297405.5 - 55 8989 c.8745C>T c.(8743-8745)tgC>tgT p.C2915C CSMD3_ENST00000455883.2_Silent_p.C2746C|CSMD3_ENST00000352409.3_Silent_p.C2845C|CSMD3_ENST00000343508.3_Silent_p.C2875C NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2915 Sushi 19. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGTTGGCCTGGCACTGTGCCT 0.398000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 13 121 0 0 1 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6536011 6536013 + In_Frame_Del DEL CTC CTC - TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr1:6536011_6536013delCTC ENST00000377748.1 - 4 855_857 c.358_360delGAG c.(358-360)del p.E120del PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 99 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CCACAGAGCTCTCCTCCTCCTCC 0.631 OREG0013041 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 182 --- --- --- --- DNAJC11 55735 broad.mit.edu 37 1 6727803 6727804 + Frame_Shift_Del DEL TC TC - TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr1:6727803_6727804delTC ENST00000377577.5 - 4 466_467 c.343_344delGA c.(343-345)afs p.E116fs DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 116 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TCTCCTCTCTTCTCTCTCTCTC 0.505 7 57 --- --- --- --- IPP 3652 broad.mit.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr1:46184897_46184898delAC ENST00000396478.3 - 6 1265_1266 c.1163_1164delGT c.(1162-1164)tfs p.C388fs NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 388 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) TAGCCCCATAACACACACACAC 0.347 7 62 --- --- --- --- TAF1B 9014 broad.mit.edu 37 2 9989570 9989571 + Frame_Shift_Ins INS - - A TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr2:9989570_9989571insA ENST00000263663.5 + 3 374_375 c.186_187insA c.(184-189)ctaaaafs p.LK62fs TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR NM_005680.2 NP_005671.2 Q53T94 TAF1B_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa 62 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity p.K63fs*1(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ACCGGGGGCTTAAAAAAAAAAA 0.337 3 6 --- --- --- --- C2orf71 388939 broad.mit.edu 37 2 29295647 29295649 + In_Frame_Del DEL TCC TCC - TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr2:29295647_29295649delTCC ENST00000331664.5 - 1 1478_1480 c.1479_1481delGGA c.(1477-1482)gaa>ga p.EE493del NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 493 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CATTTTGTCTTCCTCCTCCTCCT 0.542 7 144 --- --- --- --- POU3F3 5455 broad.mit.edu 37 2 105472277 105472279 + In_Frame_Del DEL CGC CGC - TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr2:105472277_105472279delCGC ENST00000361360.2 + 1 309_311 c.309_311delCGC c.(307-312)cac>ca p.HA103del RP11-13J10.1_ENST00000598623.1_RNA NM_006236.1 NP_006227.1 P20264 PO3F3_HUMAN POU class 3 homeobox 3 103 Ala-rich.|Gly-rich. metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation nucleus sequence-specific DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 CCCTGCCCCAcgccgccgccgcc 0.754 2 4 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1388900 1388901 + Frame_Shift_Del DEL CA CA - rs71299249 TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr4:1388900_1388901delCA ENST00000324803.4 + 1 3561_3562 c.601_602delCA c.(601-603)cfs p.H201fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 201 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CTCGCCTGCTCACACGTGCCGA 0.658 7 370 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1389392 1389393 + Frame_Shift_Del DEL CA CA - rs34525526 TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr4:1389392_1389393delCA ENST00000324803.4 + 1 4053_4054 c.1093_1094delCA c.(1093-1095)cfs p.H365fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 365 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CCCGCCTGCTCACACACGTGCC 0.658 7 733 --- --- --- --- TPTE2P6 374491 broad.mit.edu 37 13 25157747 25157748 + RNA INS - - T rs144668552 by1000genomes TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr13:25157747_25157748insT ENST00000453498.1 + 0 554 AAAATGGGAGGTTTTTTTAGGG 0.411 3 4 --- --- --- --- CHGA 1113 broad.mit.edu 37 14 93397759 93397761 + In_Frame_Del DEL GAG GAG - TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr14:93397759_93397761delGAG ENST00000216492.5 + 6 800_802 c.520_522delGAG c.(520-522)del p.E179del CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 179 regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) TGGggaggaagaggaggaggagg 0.665 4 7 --- --- --- --- ZNF609 23060 broad.mit.edu 37 15 64972995 64972997 + In_Frame_Del DEL CAC CAC - TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr15:64972995_64972997delCAC ENST00000326648.3 + 7 4224_4226 c.4096_4098delCAC c.(4096-4098)del p.H1371del NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 1371 Poly-His. nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GATGTCCACACACCACCACCACC 0.591 8 266 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27027202 27027204 + In_Frame_Del DEL AGC AGC - TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr17:27027202_27027204delAGC ENST00000314616.6 + 34 4856_4858 c.4573_4575delAGC c.(4573-4575)del p.S1528del SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1528 Poly-Ser. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CATCACCCCTAGCAGCAGCAGCA 0.537 7 331 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC TCC - TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr19:47935681_47935683delTCC ENST00000236877.6 - 9 2525_2527 c.2130_2132delGGA c.(2128-2133)gac>ga p.ED710del SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 710 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCGGGACCCGTCCTCCTCCTCCT 0.616 14 218 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr19:54675747_54675749delTCC ENST00000376591.4 - 2 332_334 c.201_203delGGA c.(199-204)gat>ga p.ED67del TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 67 Poly-Glu. integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTTCCTCCATCCTCCTCCTCCT 0.645 9 104 --- --- --- --- ZSCAN18 65982 broad.mit.edu 37 19 58596482 58596482 + Frame_Shift_Del DEL C C - TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr19:58596482delC ENST00000240727.6 - 7 1502 c.1103delG c.(1102-1104)gafs p.G368fs ZSCAN18_ENST00000421612.2_Frame_Shift_Del_p.G232fs|ZSCAN18_ENST00000600404.1_Frame_Shift_Del_p.G424fs|ZSCAN18_ENST00000601144.1_Frame_Shift_Del_p.G368fs NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 368 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCTCTTGGTTCCCAGTTTCGC 0.726 6 12 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr21:11085863_11085864insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catcaccaccaccaccatcacc 0.579 7 25 --- --- --- --- RANGAP1 5905 broad.mit.edu 37 22 41650469 41650471 + In_Frame_Del DEL TCC TCC - TCGA-38-7271-01A-11D-2036-08 TCGA-38-7271-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6732ec04-f55f-4b1d-8413-2c00af79f54e dbc07446-ca03-467e-ac72-576d1eefda30 g.chr22:41650469_41650471delTCC ENST00000455915.2 - 10 2570_2572 c.1101_1103delGGA c.(1099-1104)gaa>ga p.EE367del RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del|RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del P46060 RAGP1_HUMAN Ran GTPase activating protein 1 367 Asp/Glu-rich (highly acidic). mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ctcttctccttcctcctcctcct 0.562 13 94 --- --- --- ---