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 TIMELESS 8914 broad.mit.edu 37 12 56816656 56816656 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr12:56816656C>T ENST00000229201.4 - 19 2564 c.2410G>A c.(2410-2412)Gag>Aag p.E804K TIMELESS_ENST00000553532.1_Missense_Mutation_p.E805K|TIMELESS_ENST00000554616.1_Intron NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 805 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin p.E805K(1) NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 CCATAGCCCTCAGTCATCTCT 0.498000 38 59 0 0 0.023175 0 0 TSPAN14 81619 broad.mit.edu 37 10 82269077 82269077 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr10:82269077C>T ENST00000429989.2 + 5 523 c.300C>T c.(298-300)ctC>ctT p.L100L TSPAN14_ENST00000372158.1_Silent_p.L100L|TSPAN14_ENST00000372164.3_Silent_p.L83L|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372156.1_Silent_p.L100L|TSPAN14_ENST00000341863.6_Intron NM_030927.2 NP_112189.2 Q8NG11 TSN14_HUMAN tetraspanin 14 100 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 Colorectal(32;0.229) CCATCGTGCTCATCTTCTTCC 0.612000 23 28 0 0 0.018920 0 0 MED13 9969 broad.mit.edu 37 17 60042437 60042437 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:60042437G>C ENST00000397786.2 - 20 4850 c.4774C>G c.(4774-4776)Cta>Gta p.L1592V NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1592 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GCTGTCTGTAGAGCTGATGTC 0.453000 12 41 0 0 0.010729 0 0 TDRD5 163589 broad.mit.edu 37 1 179659915 179659915 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:179659915C>G ENST00000444136.1 + 18 3195 c.2945C>G c.(2944-2946)tCt>tGt p.S982C TDRD5_ENST00000294848.8_Missense_Mutation_p.S928C|TDRD5_ENST00000367614.1_Missense_Mutation_p.S928C NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 928 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 CGTCAAGAATCTGTAGACCAG 0.438000 13 47 0 0 0.016723 0 0 CERS1 10715 broad.mit.edu 37 19 18990068 18990068 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr19:18990068C>T ENST00000427170.2 - 5 953 c.882G>A c.(880-882)atG>atA p.M294I CERS1_ENST00000542296.2_Missense_Mutation_p.M196I|GDF1_ENST00000247005.6_5'UTR|CERS1_ENST00000429504.2_Missense_Mutation_p.M294I NM_001492.4|NM_021267.3 NP_001483.3|NP_067090.1 P27544 CERS1_HUMAN ceramide synthase 1 294 TLC. ceramide biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|microsome sphingosine N-acyltransferase activity endometrium(3)|lung(2) 5 AGTAGAGGTTCATAAGGGTGA 0.612000 4 27 0 0 0.009096 0 0 PKD1L2 114780 broad.mit.edu 37 16 81219116 81219116 + Nonsense_Mutation SNP C C A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr16:81219116C>A ENST00000599697.1 - 11 1977 c.1978G>T c.(1978-1980)Gaa>Taa p.E660* PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 660 REJ. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GGCCTGAGTTCCCAGGGCGCA 0.632000 9 23 0.000274275 0.000283652 0.004482 1 0 AC008103.5 0 broad.mit.edu 37 22 18842424 18842424 + RNA SNP G G A rs9605827 TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr22:18842424G>A ENST00000412938.1 + 0 2208 CTGCCCTCGCGGAGTGGGGAA 0.622000 3 19 0 0 0.004482 0 0 DDR1 780 broad.mit.edu 37 6 30862324 30862324 + Silent SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:30862324C>G ENST00000324771.8 + 13 1937 c.1389C>G c.(1387-1389)ctC>ctG p.L463L DDR1_ENST00000376570.4_Silent_p.L463L|DDR1_ENST00000376568.3_Silent_p.L463L|DDR1_ENST00000418800.2_Silent_p.L463L|DDR1_ENST00000452441.1_Silent_p.L463L|DDR1_ENST00000454612.2_Silent_p.L463L|DDR1_ENST00000376569.3_Silent_p.L463L|DDR1_ENST00000376567.2_Silent_p.L463L|DDR1_ENST00000508312.1_Silent_p.L481L|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000513240.1_Silent_p.L463L|DDR1_ENST00000376575.3_Silent_p.L463L|DDR1_ENST00000361741.4_Intron Q08345 DDR1_HUMAN discoidin domain receptor tyrosine kinase 1 463 cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) CGGTTCACCTCTCTGTCCCTG 0.632000 46 52 0 0 0.013114 0 0 PLEC 5339 broad.mit.edu 37 8 144996219 144996219 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:144996219C>T ENST00000322810.4 - 32 8350 c.8181G>A c.(8179-8181)gaG>gaA p.E2727E PLEC_ENST00000436759.2_Silent_p.E2617E|PLEC_ENST00000398774.2_Silent_p.E2558E|PLEC_ENST00000354958.2_Silent_p.E2568E|PLEC_ENST00000354589.3_Silent_p.E2590E|PLEC_ENST00000357649.2_Silent_p.E2594E|PLEC_ENST00000527096.1_Silent_p.E2613E|PLEC_ENST00000356346.3_Silent_p.E2576E|PLEC_ENST00000345136.3_Silent_p.E2590E NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2727 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCCTCTGGTTCTCCTCAGCCA 0.701000 4 27 0 0 0.009096 0 0 WDTC1 23038 broad.mit.edu 37 1 27632792 27632792 + Missense_Mutation SNP T T A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:27632792T>A ENST00000319394.3 + 16 2487 c.1952T>A c.(1951-1953)aTc>aAc p.I651N WDTC1_ENST00000361771.3_Missense_Mutation_p.I650N NM_001276252.1|NM_015023.3 NP_001263181.1|NP_055838.2 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 651 protein binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 21 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) GGCTACCGGATCACGGGCCTG 0.647000 21 38 0 0 0.014323 0 0 PTPN14 5784 broad.mit.edu 37 1 214549657 214549657 + Nonsense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:214549657G>A ENST00000366956.5 - 15 3006 c.2812C>T c.(2812-2814)Cga>Tga p.R938* PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 938 Tyrosine-protein phosphatase. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) TCACGGATTCGGCTGCGCTCG 0.458000 31 55 0 0 0.041601 0 0 ABCA12 26154 broad.mit.edu 37 2 215797408 215797408 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:215797408G>C ENST00000272895.7 - 53 7957 c.7738C>G c.(7738-7740)Caa>Gaa p.Q2580E AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.Q2262E NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 2580 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GTGGAACCTTGGCTGCTGGTA 0.423000 14 42 0 0 0.020292 0 0 TRPA1 8989 broad.mit.edu 37 8 72958807 72958807 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:72958807C>G ENST00000262209.4 - 17 2209 c.2002G>C c.(2002-2004)Gaa>Caa p.E668Q RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 668 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) TTGGTGAATTCTAATGGACAT 0.294000 11 38 0 0 0.013537 0 0 APBA3 9546 broad.mit.edu 37 19 3759797 3759797 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr19:3759797C>G ENST00000316757.3 - 2 666 c.466G>C c.(466-468)Gag>Cag p.E156Q NM_004886.3 NP_004877.1 O96018 APBA3_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 3 156 intracellular signal transduction|protein transport intracellular|membrane protein binding endometrium(1)|large_intestine(1)|skin(1) 3 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18) GAGGCCCCCTCCACCCATTCT 0.642000 10 33 0 0 0.008291 0 0 MAATS1 89876 broad.mit.edu 37 3 119462951 119462951 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr3:119462951G>A ENST00000273390.5 + 14 1887 c.1810G>A c.(1810-1812)Gag>Aag p.E604K NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 CATGCTGGCTGAGCGCCAGCG 0.572000 33 78 0 0 0.027894 0 0 OR4S1 256148 broad.mit.edu 37 11 48328704 48328704 + Splice_Site SNP A A G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:48328704A>G ENST00000319988.1 + 1 930 c.927_splice c.e1+1 p.*310_splice NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 GGGAGAAGTGACATTCCAGAG 0.428000 10 33 0 0 0.008291 0 0 KSR2 283455 broad.mit.edu 37 12 118105354 118105354 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr12:118105354G>A ENST00000425217.1 - 5 1063 c.1009C>T c.(1009-1011)Cgc>Tgc p.R337C KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.R63C|KSR2_ENST00000339824.5_Missense_Mutation_p.R366C NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 366 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity p.R398C(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AAGAAGGAGCGGAGGGAGCGC 0.602000 11 19 0 0 0.008291 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(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) ACTGGACGCAGGcagcagcag 0.657000 4 22 0 0 0.014758 0 0 TRPA1 8989 broad.mit.edu 37 8 72958791 72958791 + Missense_Mutation SNP G G T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:72958791G>T ENST00000262209.4 - 17 2225 c.2018C>A c.(2017-2019)aCa>aAa p.T673K RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 673 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) CTGTGTAGGTGTTTTTTTGGT 0.269000 19 45 3.8784e-16 4.38586e-16 0.012319 1 0 DCHS2 54798 broad.mit.edu 37 4 155161884 155161884 + Silent SNP A A G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr4:155161884A>G ENST00000357232.3 - 23 5798 c.5799T>C c.(5797-5799)aaT>aaC p.N1933N NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1933 Cadherin 17. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TGGTTCCAGGATTACTCTCTT 0.383000 16 55 0 0 0.024245 0 0 HUWE1 10075 broad.mit.edu 37 X 53589155 53589155 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chrX:53589155C>T ENST00000342160.3 - 53 7712 c.7255G>A c.(7255-7257)Gag>Aag p.E2419K HUWE1_ENST00000262854.6_Missense_Mutation_p.E2419K Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 2419 Glu-rich. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 CTGCTGTCCTCTTCCTGAGTG 0.498000 17 12 0 0 0.033300 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102504835 102504835 + Silent SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr14:102504835G>C ENST00000360184.4 + 58 11111 c.10947G>C c.(10945-10947)ctG>ctC p.L3649L RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 3649 AAA 5 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 ACCCGGTGCTGAACCGTGAAG 0.542000 7 34 0 0 0.008291 0 0 DDR1 780 broad.mit.edu 37 6 30860256 30860256 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:30860256C>T ENST00000324771.8 + 10 1584 c.1036C>T c.(1036-1038)Ctg>Ttg p.L346L DDR1_ENST00000376570.4_Silent_p.L346L|DDR1_ENST00000376568.3_Silent_p.L346L|DDR1_ENST00000418800.2_Silent_p.L346L|DDR1_ENST00000452441.1_Silent_p.L346L|DDR1_ENST00000454612.2_Silent_p.L346L|DDR1_ENST00000376569.3_Silent_p.L346L|DDR1_ENST00000376567.2_Silent_p.L346L|DDR1_ENST00000508312.1_Silent_p.L364L|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000513240.1_Silent_p.L346L|DDR1_ENST00000376575.3_Silent_p.L346L|DDR1_ENST00000361741.4_Silent_p.L77L Q08345 DDR1_HUMAN discoidin domain receptor tyrosine kinase 1 346 cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) GGCTCGCTTTCTGCAGTGCCG 0.637000 35 33 0 0 0.012213 0 0 GPATCH8 23131 broad.mit.edu 37 17 42483420 42483420 + Splice_Site SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:42483420C>G ENST00000434000.1 - 8 541 c.e8-1 GPATCH8_ENST00000591680.1_Splice_Site Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) CTTTTAATCTCTGGGTTAAAA 0.433000 18 29 0 0 0.038395 0 0 FLII 2314 broad.mit.edu 37 17 18151261 18151261 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:18151261C>T ENST00000327031.4 - 19 2502 c.2277G>A c.(2275-2277)ctG>ctA p.L759L FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Silent_p.L704L|FLII_ENST00000579294.1_Silent_p.L748L|FLII_ENST00000379450.4_Silent_p.L673L NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 759 Interaction with ACTL6A. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) TTCTTGGCATCAGCTCCACCT 0.617000 32 73 0 0 0.012213 0 0 C2CD3 26005 broad.mit.edu 37 11 73789689 73789689 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:73789689C>G ENST00000334126.7 - 23 4300 c.4074G>C c.(4072-4074)aaG>aaC p.K1358N C2CD3_ENST00000313663.7_Missense_Mutation_p.K1358N Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1358 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) CACCCACGATCTTCTGCATGA 0.498000 41 71 0 0 0.027894 0 0 NKAP 79576 broad.mit.edu 37 X 119066103 119066103 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chrX:119066103C>G ENST00000371410.3 - 6 980 c.814G>C c.(814-816)Gag>Cag p.E272Q NKAP_ENST00000477789.1_5'UTR NM_024528.3 NP_078804.2 Q8N5F7 NKAP_HUMAN NFKB activating protein 272 Necessary for interaction with CIR1. 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 TCCAGAAACTCTTCTTGGGAT 0.353000 74 51 0 0 0.014410 0 0 SOCS7 30837 broad.mit.edu 37 17 36552194 36552194 + Silent SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:36552194G>A ENST00000577233.1 + 9 1719 c.1719G>A c.(1717-1719)caG>caA p.Q573Q SOCS7_ENST00000331159.5_Silent_p.Q539Q NM_014598.2 NP_055413.1 O14512 SOCS7_HUMAN suppressor of cytokine signaling 7 573 intracellular signal transduction|negative regulation of signal transduction|regulation of growth cytoplasm|nucleus|plasma membrane protein binding|SH3 domain binding central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5) 9 Breast(7;3.47e-17) TTTCCAAACAGAAGCAAGAGG 0.512000 18 31 0 0 0.038395 0 0 RNF14 9604 broad.mit.edu 37 5 141358039 141358039 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr5:141358039C>G ENST00000394520.2 + 5 787 c.478C>G c.(478-480)Caa>Gaa p.Q160E RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000394514.2_Missense_Mutation_p.Q34E|RNF14_ENST00000394515.3_Intron|RNF14_ENST00000394519.1_Missense_Mutation_p.Q160E|RNF14_ENST00000356143.1_Missense_Mutation_p.Q160E|RNF14_ENST00000347642.3_Missense_Mutation_p.Q160E|RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA NM_001201365.1|NM_004290.4 NP_001188294.1|NP_004281.1 Q9UBS8 RNF14_HUMAN ring finger protein 14 160 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_hematologic(541;0.0536)|Ovarian(839;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) AAGGACAGCTCAAGCTTCTCC 0.443000 6 15 0 0 0.021553 0 0 AKAP1 8165 broad.mit.edu 37 17 55182885 55182885 + Silent SNP C C A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:55182885C>A ENST00000337714.3 + 2 293 c.60C>A c.(58-60)ctC>ctA p.L20L AKAP1_ENST00000572557.1_Silent_p.L20L|AKAP1_ENST00000539273.1_Silent_p.L20L|AKAP1_ENST00000571629.1_Silent_p.L20L|AKAP1_ENST00000314126.3_Silent_p.L20L NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 20 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding p.L20L(1) endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) TGGCGCTCCTCGGCTGGTGGT 0.577000 22 32 1.87028e-06 1.97646e-06 0.012319 1 0 EGF 1950 broad.mit.edu 37 4 110866313 110866313 + Silent SNP A A G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr4:110866313A>G ENST00000265171.5 + 5 1267 c.822A>G c.(820-822)aaA>aaG p.K274K EGF_ENST00000509793.1_Silent_p.K274K|EGF_ENST00000503392.1_Silent_p.K274K NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 274 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) TAGCCAACAAACACACTGGAA 0.398000 7 23 0 0 0.029380 0 0 LACTB 114294 broad.mit.edu 37 15 63419597 63419597 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr15:63419597C>T ENST00000413507.2 + 4 700 c.661C>T c.(661-663)Cgt>Tgt p.R221C RPS27L_ENST00000559763.1_Intron|LACTB_ENST00000261893.4_Missense_Mutation_p.R221C NM_171846.2 NP_741982.1 P83111 LACTB_HUMAN lactamase, beta 221 mitochondrion hydrolase activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1) 12 AAGTGGAATTCGTCATTATGA 0.299000 34 85 0 0 0.021022 0 0 CARF 79800 broad.mit.edu 37 2 203834680 203834680 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:203834680G>C ENST00000320443.8 + 10 2035 c.992G>C c.(991-993)aGa>aCa p.R331T CARF_ENST00000545253.1_Missense_Mutation_p.R243T|CARF_ENST00000402905.2_Missense_Mutation_p.R331T|CARF_ENST00000438828.2_Missense_Mutation_p.R331T|WDR12_ENST00000477723.1_Intron|CARF_ENST00000414439.1_Missense_Mutation_p.R229T|CARF_ENST00000428585.1_Missense_Mutation_p.R255T|CARF_ENST00000456821.2_3'UTR|CARF_ENST00000545262.1_Missense_Mutation_p.R255T calcium responsive transcription factor CCTGAATATAGAGTTCCTACA 0.308000 15 22 0 0 0.020292 0 0 CYP4A11 1579 broad.mit.edu 37 1 47395807 47395807 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:47395807C>T ENST00000310638.4 - 12 1571 c.1540G>A c.(1540-1542)Gaa>Aaa p.E514K CYP4A11_ENST00000371904.4_Missense_Mutation_p.E515K|CYP4A11_ENST00000475477.1_5'UTR NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 514 NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V). long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) TCCTTGTCTTCACAAGGGTTA 0.562000 11 43 0 0 0.010729 0 0 MYH7 4625 broad.mit.edu 37 14 23893298 23893298 + Missense_Mutation SNP G G T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr14:23893298G>T ENST00000355349.3 - 23 2902 c.2740C>A c.(2740-2742)Cag>Aag p.Q914K NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 914 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) GCCTCCAGCTGAATCTTGTTT 0.532000 28 66 2.44723e-14 2.72917e-14 0.024334 1 0 RASA1 5921 broad.mit.edu 37 5 86675622 86675622 + Nonsense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr5:86675622C>G ENST00000456692.2 + 19 2142 c.2027C>G c.(2026-2028)tCa>tGa p.S676* RASA1_ENST00000512763.1_Nonsense_Mutation_p.S686*|RASA1_ENST00000506290.1_Nonsense_Mutation_p.S687*|RASA1_ENST00000274376.6_Nonsense_Mutation_p.S853* NM_022650.2 NP_072179.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 853 C2. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) AACATACTTTCAGAGCTTGTG 0.303000 14 17 0 0 0.028581 0 0 SERAC1 84947 broad.mit.edu 37 6 158535902 158535902 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:158535902G>A ENST00000367104.3 - 15 1734 c.1603C>T c.(1603-1605)Cat>Tat p.H535Y SERAC1_ENST00000367101.1_3'UTR|SERAC1_ENST00000367102.2_3'UTR NM_032861.3 NP_116250.3 Q96JX3 SRAC1_HUMAN serine active site containing 1 535 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 15 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) CGTGATCCATGATGAGGGACA 0.383000 62 110 0 0 0.014410 0 0 POM121L12 285877 broad.mit.edu 37 7 53103452 53103452 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr7:53103452G>A ENST00000408890.4 + 1 104 c.88G>A c.(88-90)Gcg>Acg p.A30T NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 30 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CGACGCCCTGGCGGCTCCCAT 0.697000 13 42 0 0 0.024245 0 0 STX18 53407 broad.mit.edu 37 4 4458949 4458949 + Silent SNP G G T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr4:4458949G>T ENST00000306200.2 - 5 529 c.466C>A c.(466-468)Cga>Aga p.R156R STX18_ENST00000505286.1_Silent_p.R156R NM_016930.2 NP_058626.1 Q9P2W9 STX18_HUMAN syntaxin 18 156 ER to Golgi vesicle-mediated transport|intracellular protein transport endoplasmic reticulum membrane|Golgi membrane|integral to membrane SNAP receptor activity large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 5 UCEC - Uterine corpus endometrioid carcinoma (64;0.0534) CTTTTAACTCGGATGGCTCTC 0.343000 7 26 3.09899e-07 3.31838e-07 0.004482 1 0 MFRP 83552 broad.mit.edu 37 11 119214569 119214569 + Missense_Mutation SNP C C A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:119214569C>A ENST00000555262.1 - 9 1240 c.1081G>T c.(1081-1083)Gtg>Ttg p.V361L MFRP_ENST00000360167.4_Intron|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000449574.2_Missense_Mutation_p.V361L|MFRP_ENST00000530681.1_Missense_Mutation_p.V361L NM_001278431.1 NP_001265360.1 membrane frizzled-related protein autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1) 18 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) GTCTCATACACCTCCACGTAG 0.582000 38 83 4.32679e-17 4.91589e-17 0.027894 1 0 LOX 4015 broad.mit.edu 37 5 121405752 121405752 + Missense_Mutation SNP A A T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr5:121405752A>T ENST00000231004.4 - 6 1542 c.1243T>A c.(1243-1245)Tca>Aca p.S415T LOX_ENST00000513319.1_5'UTR|SRFBP1_ENST00000504881.1_Intron NM_001178102.1|NM_002317.5 NP_001171573.1|NP_002308.2 P28300 LYOX_HUMAN lysyl oxidase 415 Lysyl-oxidase like. protein modification process extracellular space copper ion binding|protein-lysine 6-oxidase activity endometrium(1)|lung(6)|prostate(1) 8 all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02) ACTTACGGTGAAATTGTGCAG 0.403000 31 35 0 0 0.041601 0 0 SDF4 51150 broad.mit.edu 37 1 1163936 1163936 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:1163936C>G ENST00000263741.7 - 2 530 c.238G>C c.(238-240)Gag>Cag p.E80Q SDF4_ENST00000459994.2_5'UTR|SDF4_ENST00000545427.1_Missense_Mutation_p.E80Q|SDF4_ENST00000360001.6_Missense_Mutation_p.E80Q NM_016176.3|NM_016547.2 NP_057260.2|NP_057631.1 Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 80 cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis bleb|Golgi lumen|late endosome|soluble fraction calcium ion binding|identical protein binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) AGGAAGACCTCCTGGTGGAAG 0.617000 17 31 0 0 0.033300 0 0 CPT1C 126129 broad.mit.edu 37 19 50204760 50204760 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr19:50204760G>C ENST00000392518.4 + 7 934 c.562G>C c.(562-564)Gag>Cag p.E188Q CPT1C_ENST00000323446.5_Missense_Mutation_p.E188Q|CPT1C_ENST00000598293.1_Missense_Mutation_p.E188Q|CPT1C_ENST00000405931.2_Missense_Mutation_p.E188Q|CPT1C_ENST00000354199.5_Missense_Mutation_p.E188Q NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 188 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) TTAGTACCTGGAGTCGGTCCG 0.706000 14 32 0 0 0.024245 0 0 UGT2A1 10941 broad.mit.edu 37 4 70512979 70512979 + Silent SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr4:70512979G>A ENST00000503640.1 - 1 439 c.384C>T c.(382-384)ggC>ggT p.G128G UGT2A1_ENST00000286604.4_Silent_p.G128G|UGT2A1_ENST00000512704.1_Silent_p.G128G|UGT2A1_ENST00000514019.1_Silent_p.G128G NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 128 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 TTTTAAGAACGCCATCACAGA 0.418000 19 36 0 0 0.038395 0 0 LOC102546299 102546299 broad.mit.edu 37 5 164028158 164028158 + RNA SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr5:164028158G>A ENST00000486913.3 + 0 336 CTC-340A15.2_ENST00000519570.1_RNA|CTC-340A15.2_ENST00000522303.1_RNA|CTC-340A15.2_ENST00000522646.1_RNA|CTC-340A15.2_ENST00000517508.1_RNA|CTC-340A15.2_ENST00000523704.1_RNA TGCCGTTGTAGACGCCCACCC 0.592000 11 6 0 0 0.008291 0 0 DFNA5 1687 broad.mit.edu 37 7 24784316 24784316 + Missense_Mutation SNP C C A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr7:24784316C>A ENST00000342947.3 - 3 694 c.269G>T c.(268-270)gGa>gTa p.G90V DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409775.3_Missense_Mutation_p.G90V|DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000419307.1_5'UTR NM_004403.2 NP_004394.1 O60443 DFNA5_HUMAN deafness, autosomal dominant 5 90 sensory perception of sound endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 CTCCAGGGTTCCACTCACGTG 0.562000 50 48 7.89702e-26 9.14392e-26 0.014410 1 0 IFLTD1 160492 broad.mit.edu 37 12 25672833 25672833 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr12:25672833G>C ENST00000539744.1 - 7 1100 c.621C>G c.(619-621)atC>atG p.I207M IFLTD1_ENST00000445693.1_Missense_Mutation_p.I241M|IFLTD1_ENST00000413632.2_Missense_Mutation_p.I285M|IFLTD1_ENST00000282881.6_Missense_Mutation_p.I304M|IFLTD1_ENST00000458174.2_Missense_Mutation_p.I325M NM_001256266.1 NP_001243195.1 Q8N9Z9 ILFT1_HUMAN intermediate filament tail domain containing 1 304 intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847) GATAATTTGAGATATCTTTCT 0.373000 18 40 0 0 0.038395 0 0 DNAH11 8701 broad.mit.edu 37 7 21847506 21847506 + Missense_Mutation SNP A A G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr7:21847506A>G ENST00000328843.6 + 64 10223 c.10192A>G c.(10192-10194)Att>Gtt p.I3398V DNAH11_ENST00000409508.3_Missense_Mutation_p.I3391V Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3398 Stalk (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GTCAGAGAAGATTCGCTGGGG 0.443000 Kartagener syndrome 15 14 0 0 0.033300 0 0 VCAN 1462 broad.mit.edu 37 5 82834175 82834175 + Nonsense_Mutation SNP G G T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr5:82834175G>T ENST00000265077.3 + 8 5918 c.5353G>T c.(5353-5355)Gaa>Taa p.E1785* VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Nonsense_Mutation_p.E798* NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1785 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding p.E1785*(1) 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) GTCTGAAAGGGAAATGACAGA 0.403000 27 24 2.24059e-21 2.55766e-21 0.030593 1 0 KNTC1 9735 broad.mit.edu 37 12 123061462 123061462 + Silent SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr12:123061462C>G ENST00000333479.7 + 30 2784 c.2607C>G c.(2605-2607)ctC>ctG p.L869L KNTC1_ENST00000450485.2_Intron NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 869 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) GATACATTCTCAAACAAGATG 0.348000 14 21 0 0 0.020292 0 0 OR2M5 127059 broad.mit.edu 37 1 248309245 248309245 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:248309245C>T ENST00000366476.1 + 1 796 c.796C>T c.(796-798)Cgc>Tgc p.R266C NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CACATCTGATCGCTCCCCTAT 0.522000 65 94 0 0 0.014410 0 0 ABCA2 20 broad.mit.edu 37 9 139910605 139910605 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr9:139910605G>C ENST00000265662.5 - 22 3273 c.3126C>G c.(3124-3126)ttC>ttG p.F1042L ABCA2_ENST00000371605.3_Missense_Mutation_p.F1041L|ABCA2_ENST00000341511.6_Missense_Mutation_p.F1042L Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1041 ABC transporter 1. cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) ACGTTGGAGGGAACAGGCCGG 0.652000 44 63 0 0 0.013114 0 0 PLOD1 5351 broad.mit.edu 37 1 12024727 12024727 + Nonsense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:12024727C>G ENST00000196061.4 + 13 1382 c.1355C>G c.(1354-1356)tCa>tGa p.S452* PLOD1_ENST00000376369.3_Nonsense_Mutation_p.S499* NM_000302.3 NP_000293.2 Q02809 PLOD1_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 452 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) CCCTATATTTCAAACATCTAC 0.587000 52 68 0 0 0.014410 0 0 ZNF835 90485 broad.mit.edu 37 19 57174961 57174961 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr19:57174961C>G ENST00000537055.2 - 2 1837 c.1606G>C c.(1606-1608)Gaa>Caa p.E536Q NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 TCTTAATCTTCTGCTGGTCCA 0.577000 27 31 0 0 0.030593 0 0 NAT8 9027 broad.mit.edu 37 2 73868736 73868736 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:73868736C>G ENST00000272425.3 - 2 169 c.20G>C c.(19-21)cGc>cCc p.R7P NM_003960.3|NM_016347.2 NP_003951.3|NP_057431.2 Q9UHE5 NAT8_HUMAN N-acetyltransferase 8 (GCN5-related, putative) 7 gastrulation with mouth forming second|response to drug integral to membrane N-acetyltransferase activity breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1) 9 CTGGTATTTGCGGATGTGACA 0.592000 33 84 0 0 0.041601 0 0 RGL1 23179 broad.mit.edu 37 1 183816705 183816705 + Silent SNP A A G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:183816705A>G ENST00000304685.3 + 4 710 c.249A>G c.(247-249)gaA>gaG p.E83E RGL1_ENST00000360851.3_Silent_p.E48E|RGL1_ENST00000367531.1_Silent_p.E83E|RGL1_ENST00000539189.1_Silent_p.E48E|RGL1_ENST00000536277.1_Silent_p.E46E NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 48 N-terminal Ras-GEF. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 TACAGGTTGAAGGGGACCAGC 0.418000 3 172 0 0 0.014758 0 0 MUC1 4582 broad.mit.edu 37 1 155161971 155161971 + Silent SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:155161971C>G ENST00000368395.1 - 2 233 c.162G>C c.(160-162)gtG>gtC p.V54V MUC1_ENST00000368390.3_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368398.3_Intron NM_001204285.1|NM_001204286.1 NP_001191214.1|NP_001191215.1 P15941 MUC1_HUMAN mucin 1, cell surface associated 836 apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus protein binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2) 10 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TGGTCATACTCACAGCATTCT 0.577000 T IGH@ B-NHL 21 115 0 0 0.012319 0 0 C1orf127 148345 broad.mit.edu 37 1 11007909 11007909 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:11007909C>T ENST00000377004.4 - 12 2282 c.2283G>A c.(2281-2283)ctG>ctA p.L761L C1orf127_ENST00000377008.4_Silent_p.L594L NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 612 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) CCCACAGGCTCAGGGTTTGCG 0.662000 5 29 0 0 0.014758 0 0 SYNE3 161176 broad.mit.edu 37 14 95906295 95906295 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr14:95906295C>G ENST00000334258.5 - 11 2043 c.2029G>C c.(2029-2031)Gag>Cag p.E677Q SYNE3_ENST00000554873.1_Missense_Mutation_p.E434Q|SYNE3_ENST00000557275.1_Missense_Mutation_p.E677Q NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 GGGCCCGCCTCTCCCCGGTGT 0.637000 75 66 0 0 0.014410 0 0 GRIN3A 116443 broad.mit.edu 37 9 104499666 104499666 + Missense_Mutation SNP A A G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr9:104499666A>G ENST00000361820.3 - 1 1196 c.596T>C c.(595-597)tTc>tCc p.F199S NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 199 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GCTCTGGGGGAAGGCGAGCAG 0.587000 3 100 0 0 0.004672 0 0 MAG 4099 broad.mit.edu 37 19 35790470 35790470 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr19:35790470C>T ENST00000361922.4 + 5 579 c.429C>T c.(427-429)atC>atT p.I143I MAG_ENST00000597035.1_3'UTR|MAG_ENST00000537831.2_Silent_p.I118I|MAG_ENST00000392213.3_Silent_p.I143I NM_080600.2 NP_542167.1 P20916 MAG_HUMAN myelin associated glycoprotein 143 Ig-like C2-type 1. blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2) 34 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) CCCCCAACATCGTGGTGCCCC 0.672000 3 19 0 0 0.004672 0 0 RNF14 9604 broad.mit.edu 37 5 141358012 141358012 + Nonsense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr5:141358012C>T ENST00000394520.2 + 5 760 c.451C>T c.(451-453)Cag>Tag p.Q151* RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000394514.2_Nonsense_Mutation_p.Q25*|RNF14_ENST00000394515.3_Intron|RNF14_ENST00000394519.1_Nonsense_Mutation_p.Q151*|RNF14_ENST00000356143.1_Nonsense_Mutation_p.Q151*|RNF14_ENST00000347642.3_Nonsense_Mutation_p.Q151*|RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA NM_001201365.1|NM_004290.4 NP_001188294.1|NP_004281.1 Q9UBS8 RNF14_HUMAN ring finger protein 14 151 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_hematologic(541;0.0536)|Ovarian(839;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) GATTGGTTCTCAGAAAAAAGT 0.463000 11 11 0 0 0.008291 0 0 ZFP28 140612 broad.mit.edu 37 19 57061542 57061542 + Missense_Mutation SNP G G T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr19:57061542G>T ENST00000301318.3 + 6 865 c.794G>T c.(793-795)gGa>gTa p.G265V AC007228.11_ENST00000596587.1_RNA|ZFP28_ENST00000591844.1_Missense_Mutation_p.G265V NM_020828.1 NP_065879.1 Q8NHY6 ZFP28_HUMAN ZFP28 zinc finger protein 265 KRAB 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 35 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) AGTGACCTGGGATCAGCAGGT 0.478000 5 9 3.59834e-05 3.78608e-05 0.021553 1 0 RALGDS 5900 broad.mit.edu 37 9 136030585 136030585 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr9:136030585G>A ENST00000542690.1 - 6 656 c.376C>T c.(376-378)Cac>Tac p.H126Y GBGT1_ENST00000372040.3_Silent_p.V113V|GBGT1_ENST00000372043.3_Silent_p.V113V|GBGT1_ENST00000372038.3_Missense_Mutation_p.H126Y|GBGT1_ENST00000540636.1_Silent_p.V96V|GBGT1_ENST00000472281.1_5'UTR Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 0 N-terminal Ras-GEF. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) CAAACACCGTGACCCCAATGG 0.587000 T CIITA """PMBL, Hodgkin Lymphona, """ 35 56 0 0 0.019004 0 0 HIST1H3D 8351 broad.mit.edu 37 6 26197074 26197074 + Missense_Mutation SNP C C A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:26197074C>A ENST00000377831.5 - 2 858 c.405G>T c.(403-405)agG>agT p.R135S HIST1H3D_ENST00000356476.2_Missense_Mutation_p.R135S NM_003530.3 NP_003521.2 P68431 H31_HUMAN histone cluster 1, H3d 135 Missing (in Ref. 2; AAA52651). blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6) 14 all_hematologic(11;0.196) CAATTTACGCCCTCTCCCCAC 0.502000 28 40 7.26314e-15 8.17526e-15 0.034045 1 0 TRPS1 7227 broad.mit.edu 37 8 116631735 116631735 + Nonsense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:116631735G>C ENST00000395715.3 - 3 1167 c.590C>G c.(589-591)tCa>tGa p.S197* TRPS1_ENST00000519076.1_Nonsense_Mutation_p.S138*|TRPS1_ENST00000520276.1_Nonsense_Mutation_p.S188*|TRPS1_ENST00000519674.1_Nonsense_Mutation_p.S184*|TRPS1_ENST00000220888.5_Nonsense_Mutation_p.S184* NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 184 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TGGGTTTTTTGAGGCCACTGA 0.483000 Langer-Giedion syndrome 21 139 0 0 0.008871 0 0 DST 667 broad.mit.edu 37 6 56338733 56338733 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:56338733C>T ENST00000370754.5 - 93 21838 c.21839G>A c.(21838-21840)aGa>aAa p.R7280K DST_ENST00000370769.4_Missense_Mutation_p.R7102K|DST_ENST00000370788.2_Missense_Mutation_p.R4905K|DST_ENST00000446842.2_Missense_Mutation_p.R6776K|DST_ENST00000421834.2_Missense_Mutation_p.R5014K|DST_ENST00000244364.6_Missense_Mutation_p.R4688K|DST_ENST00000361203.3_Missense_Mutation_p.R6991K|DST_ENST00000312431.6_3'UTR Q03001 DYST_HUMAN dystonin 7100 GAR. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATCAGCAGCTCTCCTCTTATA 0.373000 11 5 0 0 0.008291 0 0 C1orf168 199920 broad.mit.edu 37 1 57216842 57216842 + Missense_Mutation SNP T T C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:57216842T>C ENST00000343433.6 - 9 1342 c.1262A>G c.(1261-1263)cAg>cGg p.Q421R C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 421 p.Q421L(1) NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 GTTGGTCATCTGAATTTTTTC 0.458000 3 48 0 0 0.004672 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128984583 128984583 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr5:128984583G>C ENST00000274487.4 + 13 2223 c.2078G>C c.(2077-2079)aGa>aCa p.R693T CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 693 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) CCTGGATTCAGAGACTGGCAA 0.448000 48 44 0 0 0.014410 0 0 MLLT6 4302 broad.mit.edu 37 17 36869265 36869265 + Silent SNP G G T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:36869265G>T ENST00000378137.5 + 9 970 c.879G>T c.(877-879)ctG>ctT p.L293L MLLT6_ENST00000325718.7_Intron P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 622 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) GGTGCTGTCTGCCAGATACTC 0.602000 T MLL AL 19 65 3.32936e-07 3.54936e-07 0.038395 1 0 CSPG4 1464 broad.mit.edu 37 15 75982391 75982391 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr15:75982391G>A ENST00000308508.5 - 3 1107 c.1015C>T c.(1015-1017)Cgc>Tgc p.R339C NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 339 Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 AGGCCCAGGCGGTGTTCCTGG 0.642000 5 37 0 0 0.029380 0 0 CUEDC2 79004 broad.mit.edu 37 10 104184490 104184490 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr10:104184490G>C ENST00000369937.4 - 3 279 c.134C>G c.(133-135)tCg>tGg p.S45W NM_024040.2 NP_076945.2 Q9H467 CUED2_HUMAN CUE domain containing 2 45 cytoplasm|nucleus protein binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.122) Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) TGATGGGCCCGAGGGGCCCAG 0.587000 30 43 0 0 0.034045 0 0 MLLT6 4302 broad.mit.edu 37 17 36872785 36872785 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:36872785C>T ENST00000325718.7 + 10 1293 c.1202C>T c.(1201-1203)tCt>tTt p.S401F CTB-58E17.9_ENST00000579499.1_RNA NM_005937.3 NP_005928.2 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 401 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) GTGGTCTTCTCTGGCTTTGGG 0.657000 T MLL AL 30 42 0 0 0.013726 0 0 PGAP3 93210 broad.mit.edu 37 17 37840929 37840929 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:37840929C>T ENST00000300658.4 - 3 445 c.353G>A c.(352-354)aGc>aAc p.S118N PGAP3_ENST00000579146.1_Missense_Mutation_p.S118N|PGAP3_ENST00000429199.2_Missense_Mutation_p.S118N|PGAP3_ENST00000378011.4_Intron NM_033419.3 NP_219487.3 Q96FM1 PGAP3_HUMAN post-GPI attachment to proteins 3 118 GPI anchor biosynthetic process Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane hydrolase activity, acting on ester bonds breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 CATCACCAGGCTGGCCAGGCC 0.602000 18 26 0 0 0.038395 0 0 CSPG4 1464 broad.mit.edu 37 15 75982360 75982360 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr15:75982360G>A ENST00000308508.5 - 3 1138 c.1046C>T c.(1045-1047)gCc>gTc p.A349V NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 349 Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 CAGCAGGGAGGCATTGGTGGC 0.667000 3 30 0 0 0.004672 0 0 DDR1 780 broad.mit.edu 37 6 30859860 30859860 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:30859860C>G ENST00000446312.1 + 8 980 c.647C>G c.(646-648)tCt>tGt p.S216C DDR1_ENST00000376570.4_Silent_p.V249V|DDR1_ENST00000324771.8_Silent_p.V249V|DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000376568.3_Silent_p.V249V|DDR1_ENST00000418800.2_Silent_p.V249V|DDR1_ENST00000452441.1_Silent_p.V249V|DDR1_ENST00000454612.2_Silent_p.V249V|DDR1_ENST00000376569.3_Silent_p.V249V|DDR1_ENST00000376567.2_Silent_p.V249V|DDR1_ENST00000508312.1_Silent_p.V267V|DDR1_ENST00000513240.1_Silent_p.V249V|DDR1_ENST00000376575.3_Silent_p.V249V|DDR1_ENST00000361741.4_5'UTR Q08345 DDR1_HUMAN discoidin domain receptor tyrosine kinase 1 0 cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) AGCTGCGGGTCTGGCCAGGCT 0.577000 54 89 0 0 0.014410 0 0 ZUFSP 221302 broad.mit.edu 37 6 116968707 116968707 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:116968707C>G ENST00000368576.3 - 8 1626 c.1383G>C c.(1381-1383)tgG>tgC p.W461C NM_145062.2 NP_659499.2 Q96AP4 ZUFSP_HUMAN zinc finger with UFM1-specific peptidase domain 461 intracellular zinc ion binding NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186) AGTTCAATATCCATTCAAATA 0.353000 21 54 0 0 0.010504 0 0 DOCK1 1793 broad.mit.edu 37 10 129141970 129141970 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr10:129141970G>C ENST00000280333.6 + 31 3230 c.3121G>C c.(3121-3123)Gag>Cag p.E1041Q DOCK1_ENST00000484400.1_3'UTR NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1041 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) CCTGCAACTGGAGAATTTTTC 0.433000 2 7 0 0 0.004672 0 0 IL16 3603 broad.mit.edu 37 15 81565513 81565513 + Missense_Mutation SNP G G T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr15:81565513G>T ENST00000394660.2 + 6 1118 c.758G>T c.(757-759)gGa>gTa p.G253V IL16_ENST00000302987.4_Missense_Mutation_p.G253V NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 253 Interaction with GRIN2A.|PDZ 1. immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 TTTGCAGGGGGAGCAGCAGCA 0.522000 18 42 6.49762e-13 7.14738e-13 0.038395 1 0 POM121L12 285877 broad.mit.edu 37 7 53103987 53103987 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr7:53103987G>A ENST00000408890.4 + 1 639 c.623G>A c.(622-624)cGg>cAg p.R208Q NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 208 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GGTGGCAGGCGGAACCTGCAG 0.667000 42 59 0 0 0.036044 0 0 ITSN1 6453 broad.mit.edu 37 21 35208792 35208792 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr21:35208792G>C ENST00000381318.3 + 29 3805 c.3517G>C c.(3517-3519)Gag>Cag p.E1173Q ITSN1_ENST00000379960.5_3'UTR|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.E1097Q|ITSN1_ENST00000399352.1_Missense_Mutation_p.E1168Q|ITSN1_ENST00000437442.2_Missense_Mutation_p.E1168Q|ITSN1_ENST00000399353.1_Missense_Mutation_p.E1131Q|ITSN1_ENST00000381285.4_Missense_Mutation_p.E1173Q|ITSN1_ENST00000399355.2_Missense_Mutation_p.E1102Q|ITSN1_ENST00000399367.3_Missense_Mutation_p.E1168Q|ITSN1_ENST00000381291.4_Missense_Mutation_p.E1173Q|ITSN1_ENST00000399326.3_3'UTR NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 1173 SH3 5. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 GAATGACGATGAGCTGGCCTT 0.572000 19 26 0 0 0.038395 0 0 GCN1L1 10985 broad.mit.edu 37 12 120600729 120600729 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr12:120600729C>T ENST00000300648.6 - 20 2097 c.2085G>A c.(2083-2085)aaG>aaA p.K695K NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 695 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAGGATCGATCTTCATCCTGG 0.557000 38 74 0 0 0.021022 0 0 A1BG 1 broad.mit.edu 37 19 58863922 58863922 + Splice_Site SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr19:58863922C>T ENST00000263100.3 - 4 402 c.e4-1 A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA NM_130786.3 NP_570602.2 P04217 A1BG_HUMAN alpha-1-B glycoprotein extracellular region NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2) 15 all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269) GGCAAGGACTCTGTGGGTGGG 0.602000 16 115 0 0 0.028581 0 0 HIST1H2BB 3018 broad.mit.edu 37 6 26043802 26043802 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:26043802C>G ENST00000357905.2 - 1 83 c.84G>C c.(82-84)aaG>aaC p.K28N NM_021062.2 NP_066406.1 P33778 H2B1B_HUMAN histone cluster 1, H2bb 28 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 GCTTACGCTTCTTACCATCCT 0.507000 38 117 0 0 0.021022 0 0 NPTXR 23467 broad.mit.edu 37 22 39222541 39222541 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr22:39222541C>T ENST00000333039.2 - 3 1185 c.1062G>A c.(1060-1062)gcG>gcA p.A354A NM_014293.3 NP_055108.2 O95502 NPTXR_HUMAN neuronal pentraxin receptor 354 Pentaxin. integral to membrane metal ion binding central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Melanoma(58;0.04) GCTCATGGCCCGCCTCTAGCA 0.667000 15 95 0 0 0.033300 0 0 ZZEF1 23140 broad.mit.edu 37 17 3981229 3981229 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:3981229C>T ENST00000381638.2 - 19 3061 c.2937G>A c.(2935-2937)ctG>ctA p.L979L ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 979 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 CCGTGCTCTTCAGCTGCAGGT 0.512000 24 46 0 0 0.021523 0 0 RPLP0P2 113157 broad.mit.edu 37 11 61404539 61404539 + RNA SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:61404539C>G ENST00000496593.1 + 0 1143 NR_002775.2 GAATACTGGTCTGGACCCCGA 0.542000 15 25 0 0 0.020292 0 0 TTLL2 83887 broad.mit.edu 37 6 167753771 167753771 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:167753771C>T ENST00000239587.5 + 3 471 c.383C>T c.(382-384)tCc>tTc p.S128F NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 128 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) TGGAGGACATCCTCTTTCCGA 0.537000 5 24 0 0 0.014758 0 0 ZNF182 7569 broad.mit.edu 37 X 47837109 47837109 + Missense_Mutation SNP T T C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chrX:47837109T>C ENST00000396965.1 - 7 727 c.377A>G c.(376-378)aAg>aGg p.K126R ZNF182_ENST00000376943.3_Missense_Mutation_p.K107R|ZNF182_ENST00000305127.6_Missense_Mutation_p.K126R NM_001178099.1 NP_001171570.1 P17025 ZN182_HUMAN zinc finger protein 182 126 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1) 22 AATTGTTTTCTTGTCAGAAAA 0.383000 14 8 0 0 0.016723 0 0 SHC4 399694 broad.mit.edu 37 15 49126974 49126974 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr15:49126974C>T ENST00000332408.4 - 11 2157 c.1729G>A c.(1729-1731)Gaa>Aaa p.E577K SHC4_ENST00000396535.3_Missense_Mutation_p.E334K|SHC4_ENST00000537958.1_Missense_Mutation_p.E291K NM_203349.3 NP_976224.3 Q6S5L8 SHC4_HUMAN SHC (Src homology 2 domain containing) family, member 4 577 SH2. intracellular signal transduction cell junction|postsynaptic membrane breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 29 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) ACCTTGCCTTCAGGATCCACC 0.453000 33 85 0 0 0.015359 0 0 MOCS1 4337 broad.mit.edu 37 6 39874211 39874211 + Silent SNP G G T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:39874211G>T ENST00000308559.7 - 10 1918 c.1785C>A c.(1783-1785)gtC>gtA p.V595V MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000425303.2_Silent_p.V611V|MOCS1_ENST00000373195.3_Silent_p.V508V|MOCS1_ENST00000340692.5_Silent_p.V611V Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis 1 611 Molybdenum cofactor biosynthesis protein C. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 21 Ovarian(28;0.0355)|Colorectal(47;0.196) TGTCCCTGCTGACAGCCTTGC 0.627000 72 96 3.61411e-23 4.16483e-23 0.014410 1 0 SLC37A4 2542 broad.mit.edu 37 11 118895769 118895769 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:118895769C>T ENST00000545985.1 - 11 1897 c.1141G>A c.(1141-1143)Ggg>Agg p.G381R SLC37A4_ENST00000357590.5_Missense_Mutation_p.G403R|TRAPPC4_ENST00000533058.1_3'UTR|SLC37A4_ENST00000330775.7_Missense_Mutation_p.G402R|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Missense_Mutation_p.G308R NM_001164277.1|NM_001467.5 NP_001157749.1|NP_001458.1 O43826 G6PT1_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 4 381 glucose homeostasis|glucose metabolic process endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane glucose-6-phosphate transmembrane transporter activity endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1) 6 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.58e-05) AAGGGCAGCCCAGCCAGAAAG 0.582000 30 53 0 0 0.041601 0 0 CUL7 9820 broad.mit.edu 37 6 43007895 43007895 + Splice_Site SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:43007895C>G ENST00000535468.1 - 22 4631 c.4546_splice c.e22+1 p.K1515_splice CUL7_ENST00000265348.3_Splice_Site_p.K1431_splice NM_001168370.1|NM_014780.4 NP_001161842.1|NP_055595.2 Q14999 CUL7_HUMAN cullin 7 1431 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GCTGCTCACTCTTGTTGTAGA 0.592000 23 112 0 0 0.016522 0 0 LCT 3938 broad.mit.edu 37 2 136579616 136579616 + Silent SNP C C A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:136579616C>A ENST00000264162.2 - 5 970 c.960G>T c.(958-960)ctG>ctT p.L320L AC011893.3_ENST00000437007.1_RNA NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 320 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) ATGAACAACTCAGAAACTCAT 0.313000 13 31 1.05317e-09 1.1429e-09 0.020292 1 0 NAT8 9027 broad.mit.edu 37 2 73868737 73868737 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:73868737G>A ENST00000272425.3 - 2 168 c.19C>T c.(19-21)Cgc>Tgc p.R7C NM_003960.3|NM_016347.2 NP_003951.3|NP_057431.2 Q9UHE5 NAT8_HUMAN N-acetyltransferase 8 (GCN5-related, putative) 7 gastrulation with mouth forming second|response to drug integral to membrane N-acetyltransferase activity breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1) 9 TGGTATTTGCGGATGTGACAA 0.592000 32 83 0 0 0.037714 0 0 OR2T6 254879 broad.mit.edu 37 1 248551737 248551737 + Silent SNP C C A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:248551737C>A ENST00000355728.2 + 1 828 c.828C>A c.(826-828)gcC>gcA p.A276A NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCTTCTCTGCCTTTTATACCA 0.463000 16 69 4.7546e-09 5.11384e-09 0.028581 1 0 UBALD1 124402 broad.mit.edu 37 16 4664715 4664715 + Silent SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr16:4664715C>G ENST00000590965.1 - 1 160 c.84G>C c.(82-84)gcG>gcC p.A28A UBALD1_ENST00000591401.1_Silent_p.A28A|UBALD1_ENST00000587615.1_Silent_p.A28A|UBALD1_ENST00000587649.1_Silent_p.A28A|UBALD1_ENST00000283474.7_Silent_p.A28A|UBALD1_ENST00000591897.1_Intron UBA-like domain containing 1 GCAGTTGCTTCGCCTGGTCGG 0.731000 4 23 0 0 0.014758 0 0 MYO3A 53904 broad.mit.edu 37 10 26409613 26409613 + Silent SNP T T C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr10:26409613T>C ENST00000265944.5 + 18 1951 c.1785T>C c.(1783-1785)ggT>ggC p.G595G MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 595 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 AGCAACTTGGTAGTATATACA 0.438000 12 70 0 0 0.010729 0 0 BBS2 583 broad.mit.edu 37 16 56539947 56539947 + Splice_Site SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr16:56539947G>A ENST00000245157.5 - 7 1139 c.717_splice c.e7-1 p.S240_splice BBS2_ENST00000568104.1_Splice_Site_p.S240_splice|BBS2_ENST00000561951.1_5'UTR NM_031885.3 NP_114091.3 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 240 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3) 26 ATGATTTTTCGACTGAAAAAG 0.343000 Bardet-Biedl syndrome 10 24 0 0 0.006214 0 0 MAGI2 9863 broad.mit.edu 37 7 78636436 78636436 + Missense_Mutation SNP G G T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr7:78636436G>T ENST00000354212.4 - 2 641 c.388C>A c.(388-390)Cgt>Agt p.R130S MAGI2_ENST00000522391.1_Missense_Mutation_p.R130S|MAGI2_ENST00000419488.1_Missense_Mutation_p.R130S NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 130 Guanylate kinase-like. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) AGGTTGTCACGAATGATTTGC 0.363000 27 34 4.87955e-14 5.41675e-14 0.027356 1 0 HIST2H3D 653604 broad.mit.edu 37 1 149784921 149784921 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:149784921C>T ENST00000331491.1 - 1 315 c.316G>A c.(316-318)Gaa>Aaa p.E106K NM_001123375.2 NP_001116847.1 Q71DI3 H32_HUMAN histone cluster 2, H3d 106 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding|protein binding biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3) 7 TTCGTGTCTTCGAACAGCCCC 0.652000 11 51 0 0 0.033300 0 0 SYCP1 6847 broad.mit.edu 37 1 115398091 115398091 + Missense_Mutation SNP A A C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:115398091A>C ENST00000369522.3 + 2 246 c.6A>C c.(4-6)gaA>gaC p.E2D SYCP1_ENST00000369518.1_Missense_Mutation_p.E2D NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 2 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AGAAAATGGAAAAGCAAAAGC 0.483000 16 44 0 0 0.028581 0 0 NT5C1A 84618 broad.mit.edu 37 1 40129051 40129051 + Silent SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:40129051G>C ENST00000235628.1 - 4 488 c.489C>G c.(487-489)ctC>ctG p.L163L NM_032526.1 NP_115915.1 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 163 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2) 15 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GATAGGCCTTGAGGTAGCAGA 0.532000 23 29 0 0 0.012319 0 0 CDR2L 30850 broad.mit.edu 37 17 72997458 72997458 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:72997458C>T ENST00000337231.5 + 3 627 c.215C>T c.(214-216)aCg>aTg p.T72M NM_014603.2 NP_055418.2 Q86X02 CDR2L_HUMAN cerebellar degeneration-related protein 2-like 72 all_lung(278;0.226) CAGCTGGACACGCTGCGGCAC 0.562000 6 21 0 0 0.029380 0 0 CYCS 54205 broad.mit.edu 37 7 25163649 25163649 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr7:25163649C>T ENST00000305786.2 - 2 259 c.90G>A c.(88-90)ggG>ggA p.G30G CYCS_ENST00000409409.1_Silent_p.G30G|CYCS_ENST00000409764.1_Silent_p.G30G NM_018947.5 NP_061820.1 P99999 CYC_HUMAN cytochrome c, somatic 30 activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 4 Melatonin(DB01065)|Minocycline(DB01017) GGAGATTTGGCCCAGTCTTGT 0.443000 4 86 0 0 0.009096 0 0 PTOV1 53635 broad.mit.edu 37 19 50361359 50361359 + Silent SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr19:50361359G>A ENST00000391842.1 + 9 1094 c.924G>A c.(922-924)ccG>ccA p.P308P PTOV1_ENST00000221557.9_Silent_p.P276P|PTOV1_ENST00000601638.1_Silent_p.P276P|PTOV1_ENST00000600603.1_Silent_p.P276P|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000601675.1_Silent_p.P308P|PTOV1_ENST00000599732.1_Silent_p.P308P|AC018766.5_ENST00000593654.1_RNA NM_017432.3 NP_059128.2 Q86YD1 PTOV1_HUMAN prostate tumor overexpressed 1 308 Interaction with FLOT1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|plasma membrane endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1) 16 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) AGCTCATCCCGCAGCAGCTGC 0.687000 12 30 0 0 0.010729 0 0 ANKAR 150709 broad.mit.edu 37 2 190571721 190571721 + Silent SNP A A G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:190571721A>G ENST00000520309.1 + 9 2056 c.1968A>G c.(1966-1968)caA>caG p.Q656Q ANKAR_ENST00000438402.2_Silent_p.Q656Q|ANKAR_ENST00000281412.6_Silent_p.Q420Q|ANKAR_ENST00000431575.2_Silent_p.Q585Q|ANKAR_ENST00000313581.4_Silent_p.Q656Q NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 656 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) ACACTATTCAATACCTGTTTT 0.353000 10 66 0 0 0.006214 0 0 TTN 7273 broad.mit.edu 37 2 179579947 179579947 + Missense_Mutation SNP T T C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:179579947T>C ENST00000589042.1 - 90 26190 c.25966A>G c.(25966-25968)Aaa>Gaa p.K8656E TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.K8339E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K7412E|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8339 Ig-like 69. 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) TCAGCTCCTTTCAGTGTCTCT 0.398000 40 92 0 0 0.027894 0 0 POM121L12 285877 broad.mit.edu 37 7 53103453 53103453 + Missense_Mutation SNP C C A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr7:53103453C>A ENST00000408890.4 + 1 105 c.89C>A c.(88-90)gCg>gAg p.A30E NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 30 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GACGCCCTGGCGGCTCCCATG 0.692000 13 42 0.000422831 0.000435426 0.028581 1 0 PRKD3 23683 broad.mit.edu 37 2 37501611 37501611 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:37501611G>A ENST00000379066.1 - 11 2366 c.1604C>T c.(1603-1605)aCt>aTt p.T535I PRKD3_ENST00000234179.2_Missense_Mutation_p.T535I O94806 KPCD3_HUMAN protein kinase D3 535 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) TGCTTGAGGAGTAACAGGCAT 0.453000 18 45 0 0 0.007413 0 0 GRK4 2868 broad.mit.edu 37 4 3021418 3021418 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr4:3021418C>T ENST00000398052.4 + 9 1135 c.792C>T c.(790-792)ctC>ctT p.L264L GRK4_ENST00000398051.4_Silent_p.L232L|GRK4_ENST00000504933.1_Silent_p.L264L|GRK4_ENST00000345167.6_Silent_p.L232L NM_182982.2 NP_892027.2 P32298 GRK4_HUMAN G protein-coupled receptor kinase 4 264 Protein kinase. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1)|upper_aerodigestive_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GCTTGGTGCTCACCATTATGA 0.433000 44 60 0 0 0.042209 0 0 HSD17B14 51171 broad.mit.edu 37 19 49316972 49316972 + Missense_Mutation SNP T T C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr19:49316972T>C ENST00000263278.4 - 7 756 c.490A>G c.(490-492)Atg>Gtg p.M164V HSD17B14_ENST00000599157.1_Missense_Mutation_p.M140V NM_016246.2 NP_057330.2 Q9BPX1 DHB14_HUMAN hydroxysteroid (17-beta) dehydrogenase 14 164 steroid catabolic process centrosome|cytosol estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity large_intestine(3)|lung(1)|skin(1) 5 all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346) GCTTTGGTCATGGCTGTTACT 0.612000 41 58 0 0 0.030466 0 0 TRABD2A 129293 broad.mit.edu 37 2 85097636 85097636 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:85097636C>G ENST00000335459.5 - 2 587 c.382G>C c.(382-384)Gag>Cag p.E128Q TRABD2A_ENST00000409520.2_Missense_Mutation_p.E128Q|TRABD2A_ENST00000409133.1_Missense_Mutation_p.E128Q NM_001080824.1 NP_001074293.1 TraB domain containing 2A TTGACATACTCCAGGTGGCGC 0.577000 15 39 0 0 0.024245 0 0 ZIK1 284307 broad.mit.edu 37 19 58102361 58102361 + Silent SNP C C A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr19:58102361C>A ENST00000597850.1 + 4 1397 c.1182C>A c.(1180-1182)ctC>ctA p.L394L ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Silent_p.L381L|ZIK1_ENST00000599456.1_Silent_p.L339L NM_001010879.2 NP_001010879.2 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 1 394 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AAGCTACCCTCATTAAACACC 0.438000 26 43 1.85244e-09 2.0013e-09 0.018920 1 0 AHRR 57491 broad.mit.edu 37 5 422960 422960 + Silent SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr5:422960G>A ENST00000316418.5 + 6 614 c.570G>A c.(568-570)ccG>ccA p.P190P AHRR_ENST00000506456.1_Silent_p.P46P|AHRR_ENST00000512529.1_Silent_p.P36P|AHRR_ENST00000505113.1_Silent_p.P190P NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) GGCAGCCCCCGCCCTTGGAGA 0.592000 6 47 0 0 0.029380 0 0 CNOT6L 246175 broad.mit.edu 37 4 78641757 78641757 + Missense_Mutation SNP T T A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr4:78641757T>A ENST00000504123.1 - 12 1626 c.1496A>T c.(1495-1497)aAc>aTc p.N499I CNOT6L_ENST00000264903.4_Missense_Mutation_p.N499I Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 499 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 9 ACCAAGCACGTTCATATGAGT 0.428000 40 131 0 0 0.030466 0 0 IFT140 9742 broad.mit.edu 37 16 1573848 1573848 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr16:1573848G>A ENST00000426508.2 - 25 3614 c.3251C>T c.(3250-3252)gCg>gTg p.A1084V IFT140_ENST00000361339.5_Missense_Mutation_p.A278V NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 1084 p.A1084E(1)|p.A1084V(1) breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) CAGCATGACCGCCCTGTCCAT 0.672000 13 38 0 0 0.013537 0 0 PLEC 5339 broad.mit.edu 37 8 144995409 144995409 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:144995409C>T ENST00000322810.4 - 32 9160 c.8991G>A c.(8989-8991)gaG>gaA p.E2997E PLEC_ENST00000436759.2_Silent_p.E2887E|PLEC_ENST00000398774.2_Silent_p.E2828E|PLEC_ENST00000354958.2_Silent_p.E2838E|PLEC_ENST00000354589.3_Silent_p.E2860E|PLEC_ENST00000357649.2_Silent_p.E2864E|PLEC_ENST00000527096.1_Silent_p.E2883E|PLEC_ENST00000356346.3_Silent_p.E2846E|PLEC_ENST00000345136.3_Silent_p.E2860E NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2997 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 ACGTGAGGTTCTCGTGCGTGT 0.657000 31 128 0 0 0.012213 0 0 FOXE3 2301 broad.mit.edu 37 1 47882283 47882283 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:47882283G>A ENST00000335071.2 + 1 540 c.296G>A c.(295-297)cGc>cAc p.R99H NM_012186.2 NP_036318.1 Q13461 FOXE3_HUMAN forkhead box E3 99 cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding lung(3)|prostate(1)|upper_aerodigestive_tract(1) 5 READ - Rectum adenocarcinoma(2;0.0908) GCCATCTACCGCTTCATCACC 0.662000 6 45 0 0 0.021553 0 0 NKIRAS2 28511 broad.mit.edu 37 17 40174467 40174467 + Missense_Mutation SNP A A G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:40174467A>G ENST00000307641.5 + 3 766 c.145A>G c.(145-147)Aca>Gca p.T49A NKIRAS2_ENST00000393881.3_Missense_Mutation_p.T49A|NKIRAS2_ENST00000479407.1_Missense_Mutation_p.T49A|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.T49A|NKIRAS2_ENST00000462043.2_Intron|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.T49A|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.T49A|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.T47A|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.T49A NM_001001349.2 NP_001001349.1 Q9NYR9 KBRS2_HUMAN NFKB inhibitor interacting Ras-like 2 49 Small GTPase-like. I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 9 all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319) CTCCATTGAGACAGACCGGGG 0.557000 27 42 0 0 0.024334 0 0 IL1B 3553 broad.mit.edu 37 2 113591119 113591119 + Missense_Mutation SNP C C A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:113591119C>A ENST00000263341.2 - 4 343 c.133G>T c.(133-135)Gat>Tat p.D45Y IL1B_ENST00000491056.1_5'UTR NM_000576.2 NP_000567.1 P01584 IL1B_HUMAN interleukin 1, beta 45 activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation cytosol|extracellular space cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8) 12 Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366) ATGCCGCCATCCAGAGGGCAG 0.602000 29 55 9.39395e-14 1.03805e-13 0.030593 1 0 ARAP1 116985 broad.mit.edu 37 11 72406880 72406880 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:72406880C>T ENST00000359373.5 - 24 4154 c.3303G>A c.(3301-3303)atG>atA p.M1101I ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393605.3_Missense_Mutation_p.M861I|ARAP1_ENST00000455638.2_Missense_Mutation_p.M1101I|ARAP1_ENST00000334211.8_Missense_Mutation_p.M856I|ARAP1_ENST00000426523.1_Missense_Mutation_p.M856I|ARAP1_ENST00000429686.1_Missense_Mutation_p.M795I|ARAP1_ENST00000393609.3_Missense_Mutation_p.M1101I Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 1101 Rho-GAP. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 TGTGCACGTTCATCTGGTTCG 0.537000 14 23 0 0 0.016723 0 0 NSL1 25936 broad.mit.edu 37 1 212965008 212965008 + Missense_Mutation SNP C C A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:212965008C>A ENST00000366977.3 - 1 116 c.98G>T c.(97-99)cGa>cTa p.R33L NSL1_ENST00000366975.6_Missense_Mutation_p.R33L|NSL1_ENST00000422588.2_Missense_Mutation_p.R33L|NSL1_ENST00000366976.1_Missense_Mutation_p.R33L NM_015471.3 NP_056286.3 Q96IY1 NSL1_HUMAN NSL1, MIS12 kinetochore complex component 33 cell division|chromosome segregation|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102) AAAGTCTTCTCGGGGAGTGGC 0.632000 31 58 1.39806e-14 1.56634e-14 0.037714 1 0 PRDX6 9588 broad.mit.edu 37 1 173456943 173456943 + Missense_Mutation SNP G G T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:173456943G>T ENST00000340385.5 + 5 748 c.616G>T c.(616-618)Gtc>Ttc p.V206F PRDX6_ENST00000470017.1_3'UTR NM_004905.2 NP_004896.1 P30041 PRDX6_HUMAN peroxiredoxin 6 206 cell redox homeostasis|phospholipid catabolic process cytoplasmic membrane-bounded vesicle|cytosol|lysosome peroxiredoxin activity|phospholipase A2 activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 12 CCCGAAAGGAGTCTTCACCAA 0.478000 38 42 1.07121e-22 1.22859e-22 0.027894 1 0 LINC00264 645528 broad.mit.edu 37 10 26880338 26880338 + RNA SNP G G C rs3118888 by1000genomes TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr10:26880338G>C ENST00000412114.1 + 0 573 NR_026793.1 GCTGAAACATGGAAGGTAAAA 0.483000 3 29 0 0 0.004672 0 0 USH1C 10083 broad.mit.edu 37 11 17531964 17531964 + Missense_Mutation SNP A A C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:17531964A>C ENST00000005226.7 - 17 1517 c.1518T>G c.(1516-1518)aaT>aaG p.N506K USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 0 PDZ 3. equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 CTGAAATCTCATTATCAGCAG 0.502000 10 12 0 0 0.008291 0 0 EIF4B 1975 broad.mit.edu 37 12 53410267 53410267 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr12:53410267G>C ENST00000262056.9 + 2 350 c.24G>C c.(22-24)aaG>aaC p.K8N RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000420463.3_Missense_Mutation_p.K8N|EIF4B_ENST00000416762.3_Missense_Mutation_p.K8N|RP11-983P16.4_ENST00000549388.1_RNA NM_001417.4 NP_001408.2 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 8 insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1) 22 CAAAAAAGAAGAATAAGAAGG 0.393000 10 29 0 0 0.006214 0 0 KALRN 8997 broad.mit.edu 37 3 124398320 124398320 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr3:124398320G>A ENST00000360013.3 + 51 7460 c.7333G>A c.(7333-7335)Gag>Aag p.E2445K KALRN_ENST00000462213.1_Missense_Mutation_p.E62K|KALRN_ENST00000428018.2_Missense_Mutation_p.E716K|KALRN_ENST00000291478.4_Missense_Mutation_p.E748K NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2444 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GAACAGTTCCGAGGAATCAGA 0.428000 38 122 0 0 0.023175 0 0 HLTF 6596 broad.mit.edu 37 3 148781271 148781271 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr3:148781271G>C ENST00000310053.5 - 10 1300 c.1107C>G c.(1105-1107)atC>atG p.I369M HLTF_ENST00000465259.1_Missense_Mutation_p.I369M|HLTF_ENST00000494055.1_Missense_Mutation_p.I369M|HLTF_ENST00000392912.2_Missense_Mutation_p.I369M NM_003071.3|NM_139048.2 NP_003062.2|NP_620636.1 Q14527 HLTF_HUMAN helicase-like transcription factor 369 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TCTTCTCCTTGATATCTGAAA 0.333000 25 61 0 0 0.034045 0 0 SLC39A4 55630 broad.mit.edu 37 8 145638738 145638738 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:145638738C>T ENST00000276833.5 - 9 1738 c.1435G>A c.(1435-1437)Gac>Aac p.D479N SLC39A4_ENST00000301305.3_Missense_Mutation_p.D504N|SLC39A4_ENST00000531013.1_5'UTR NM_017767.2 NP_060237.2 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), member 4 504 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) TGCACGGCGTCGCCCAGAGTG 0.697000 8 27 0 0 0.004482 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507588 74507588 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:74507588C>T ENST00000354431.4 - 7 1218 c.1027G>A c.(1027-1029)Gaa>Aaa p.E343K LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E343K NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 343 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TCCAATTTTTCATCCACAATT 0.308000 5 40 0 0 0.014758 0 0 PLEC 5339 broad.mit.edu 37 8 144995127 144995127 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:144995127C>G ENST00000322810.4 - 32 9442 c.9273G>C c.(9271-9273)aaG>aaC p.K3091N PLEC_ENST00000436759.2_Missense_Mutation_p.K2981N|PLEC_ENST00000398774.2_Missense_Mutation_p.K2922N|PLEC_ENST00000354958.2_Missense_Mutation_p.K2932N|PLEC_ENST00000354589.3_Missense_Mutation_p.K2954N|PLEC_ENST00000357649.2_Missense_Mutation_p.K2958N|PLEC_ENST00000527096.1_Missense_Mutation_p.K2977N|PLEC_ENST00000356346.3_Missense_Mutation_p.K2940N|PLEC_ENST00000345136.3_Missense_Mutation_p.K2954N NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3091 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TCTTGATGATCTTCTCCACTG 0.622000 17 53 0 0 0.028581 0 0 SLC6A5 9152 broad.mit.edu 37 11 20622705 20622705 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:20622705C>G ENST00000525748.1 + 2 307 c.34C>G c.(34-36)Ctg>Gtg p.L12V NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 12 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) AATGAATAAACTGCCAGCCAA 0.572000 6 17 0 0 0.021553 0 0 CBFA2T2 9139 broad.mit.edu 37 20 32232451 32232451 + Silent SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr20:32232451G>A ENST00000346541.3 + 12 2351 c.1814G>A c.(1813-1815)tGa>tAa p.*605* CBFA2T2_ENST00000342704.5_Silent_p.*596*|CBFA2T2_ENST00000359606.3_Silent_p.*615*|CBFA2T2_ENST00000397800.1_Silent_p.*576*|CBFA2T2_ENST00000375279.2_Silent_p.*605*|CBFA2T2_ENST00000543126.1_Silent_p.*153* NM_005093.3 NP_005084.1 O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 2 0 nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2) 20 AACGGACTCTGAGCCCCGGAC 0.607000 33 99 0 0 0.017118 0 0 CATSPER2 117155 broad.mit.edu 37 15 43924464 43924464 + Silent SNP T T C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr15:43924464T>C ENST00000396879.1 - 13 1600 c.1488A>G c.(1486-1488)cgA>cgG p.R496R CATSPER2_ENST00000321596.5_Silent_p.R498R|CATSPER2_ENST00000355438.2_3'UTR|CATSPER2_ENST00000354127.4_Silent_p.R496R|CATSPER2_ENST00000381761.1_Silent_p.R502R|STRC_ENST00000541030.1_Intron Q96P56 CTSR2_HUMAN cation channel, sperm associated 2 498 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) ACTCAAAATATCGGAAGAGTG 0.483000 21 53 0 0 0.008871 0 0 BOD1L1 259282 broad.mit.edu 37 4 13601055 13601055 + Nonsense_Mutation SNP G G T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr4:13601055G>T ENST00000040738.5 - 10 7604 c.7469C>A c.(7468-7470)tCa>tAa p.S2490* NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 2490 DNA binding CCTTCCTGCTGAATAACTTGC 0.507000 OREG0016115 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 49 1.61879e-10 1.77261e-10 0.013537 1 0 USP24 23358 broad.mit.edu 37 1 55598230 55598230 + Silent SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:55598230G>C ENST00000294383.6 - 31 3524 c.3525C>G c.(3523-3525)ctC>ctG p.L1175L USP24_ENST00000407756.1_Silent_p.L1015L NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 1175 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 CTAAGTTGTAGAGCACTCTGA 0.383000 29 41 0 0 0.037714 0 0 ELMO2 63916 broad.mit.edu 37 20 44999107 44999107 + Missense_Mutation SNP T T C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr20:44999107T>C ENST00000372176.1 - 20 2063 c.1595A>G c.(1594-1596)gAg>gGg p.E532G ELMO2_ENST00000445496.2_Missense_Mutation_p.E437G|ELMO2_ENST00000352077.2_Missense_Mutation_p.E618G|ELMO2_ENST00000439931.2_Missense_Mutation_p.E632G|ELMO2_ENST00000290246.6_Missense_Mutation_p.E620G|ELMO2_ENST00000396391.1_Missense_Mutation_p.E620G|ELMO2_ENST00000454865.2_Missense_Mutation_p.E352G Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 620 apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1) 16 Myeloproliferative disorder(115;0.0122) AGCACTTTTCTCTTTCATGTG 0.458000 27 107 0 0 0.027356 0 0 LGR5 8549 broad.mit.edu 37 12 71965319 71965319 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr12:71965319G>C ENST00000266674.5 + 12 1407 c.1096G>C c.(1096-1098)Gat>Cat p.D366H LGR5_ENST00000540815.2_Missense_Mutation_p.D342H|LGR5_ENST00000536515.1_Missense_Mutation_p.D294H O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 366 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 CCTATTAGAAGATTTACCCAG 0.338000 7 28 0 0 0.038147 0 0 DNAI2 64446 broad.mit.edu 37 17 72308173 72308173 + Missense_Mutation SNP T T A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:72308173T>A ENST00000579490.1 + 11 1832 c.1697T>A c.(1696-1698)aTc>aAc p.I566N DNAI2_ENST00000582036.1_Missense_Mutation_p.I497N|DNAI2_ENST00000307504.5_Missense_Mutation_p.I366N|DNAI2_ENST00000446837.2_Missense_Mutation_p.I509N|DNAI2_ENST00000311014.6_Missense_Mutation_p.I509N Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 509 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CGAGAGAAGATCCTGGAGGCC 0.652000 Kartagener syndrome 14 21 0 0 0.024245 0 0 SELE 6401 broad.mit.edu 37 1 169694892 169694892 + Missense_Mutation SNP A A C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:169694892A>C ENST00000333360.7 - 13 1965 c.1826T>G c.(1825-1827)aTc>aGc p.I609S SELE_ENST00000367779.4_Missense_Mutation_p.I483S|SELE_ENST00000367776.1_Missense_Mutation_p.I546S|SELE_ENST00000367775.1_Missense_Mutation_p.I484S|SELE_ENST00000367777.1_Missense_Mutation_p.I546S|SELE_ENST00000367781.4_Missense_Mutation_p.I546S|SELE_ENST00000367782.4_Missense_Mutation_p.I546S|SELE_ENST00000367780.4_Missense_Mutation_p.I484S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Missense_Mutation_p.I483S NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 609 actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) AACTTAAAGGATGTAAGAAGG 0.408000 13 26 0 0 0.020292 0 0 NCF1B 654816 broad.mit.edu 37 7 72640053 72640053 + RNA SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr7:72640053G>A ENST00000423083.1 + 0 158 NR_003186.1 TTCAAGGTGCGCCCTGATGAC 0.587000 15 13 0 0 0.012319 0 0 BMP10 27302 broad.mit.edu 37 2 69093522 69093522 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:69093522C>T ENST00000295379.1 - 2 674 c.516G>A c.(514-516)gaG>gaA p.E172E NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 172 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 CCCCTTTGCTCTCCAGCACTT 0.448000 25 61 0 0 0.024334 0 0 PLEK 5341 broad.mit.edu 37 2 68620335 68620335 + Missense_Mutation SNP G G C rs146499837 TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:68620335G>C ENST00000234313.7 + 7 983 c.804G>C c.(802-804)ttG>ttC p.L268F NM_002664.2 NP_002655.2 P08567 PLEK_HUMAN pleckstrin 268 PH 2. actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) AGTTCATCTTGAGAGAAGACC 0.423000 45 130 0 0 0.039052 0 0 LIN9 286826 broad.mit.edu 37 1 226465500 226465500 + Silent SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:226465500G>A ENST00000328205.5 - 7 1251 c.706C>T c.(706-708)Ctg>Ttg p.L236L LIN9_ENST00000481685.1_Silent_p.L201L|LIN9_ENST00000366801.1_Silent_p.L185L NM_173083.3 NP_775106.2 Q5TKA1 LIN9_HUMAN lin-9 homolog (C. elegans) 220 Sufficient for interaction with RB1. cell cycle|DNA replication nucleoplasm breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) CCAATAACCAGAGGCAAAGGA 0.333000 12 48 0 0 0.013537 0 0 POLDIP3 84271 broad.mit.edu 37 22 42981957 42981957 + Missense_Mutation SNP G G T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr22:42981957G>T ENST00000252115.5 - 9 1210 c.1106C>A c.(1105-1107)cCa>cAa p.P369Q POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Missense_Mutation_p.P340Q|POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000451060.2_3'UTR NM_032311.3 NP_115687.2 Q9BY77 PDIP3_HUMAN polymerase (DNA-directed), delta interacting protein 3 369 positive regulation of translation cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1) 16 TTTCATTGATGGGCTGTCACT 0.552000 7 35 8.12818e-05 8.51524e-05 0.029380 1 0 PNKP 11284 broad.mit.edu 37 19 50368399 50368399 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr19:50368399C>T ENST00000322344.3 - 4 592 c.483G>A c.(481-483)gtG>gtA p.V161V PNKP_ENST00000600573.1_Silent_p.V161V|PNKP_ENST00000596014.1_Silent_p.V161V|PNKP_ENST00000600910.1_Silent_p.V161V NM_007254.3 NP_009185.2 Q96T60 PNKP_HUMAN polynucleotide kinase 3'-phosphatase 161 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) CCTGGGGTTTCACCCCAGCTG 0.582000 Other BER factors 5 21 0 0 0.014758 0 0 RIMS4 140730 broad.mit.edu 37 20 43385614 43385614 + Silent SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr20:43385614G>A ENST00000372851.3 - 5 582 c.516C>T c.(514-516)gtC>gtT p.V172V RIMS4_ENST00000541604.2_Silent_p.V173V NM_001205317.1|NM_182970.3 NP_001192246.1|NP_892015.1 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 172 C2. exocytosis|neurotransmitter transport cell junction|synapse p.V172V(1) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1) 29 Myeloproliferative disorder(115;0.0122) ACTTGCGAGCGACTTTGGTCT 0.562000 117 361 0 0 0.014410 0 0 SYT5 6861 broad.mit.edu 37 19 55690416 55690416 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr19:55690416G>A ENST00000590851.1 - 1 342 c.158C>T c.(157-159)cCg>cTg p.P53L SYT5_ENST00000354308.3_5'UTR|SYT5_ENST00000537500.1_5'UTR O00445 SYT5_HUMAN synaptotagmin V 0 energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) ACATGGTGGCGGGGTCCTGGA 0.642000 8 15 0 0 0.004482 0 0 SPATS1 221409 broad.mit.edu 37 6 44337822 44337822 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:44337822C>G ENST00000288390.2 + 6 1077 c.730C>G c.(730-732)Cca>Gca p.P244A SPATS1_ENST00000323108.8_Missense_Mutation_p.P244A Q496A3 SPAS1_HUMAN spermatogenesis associated, serine-rich 1 244 NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1) 14 all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TACATTTATTCCACTTGAGCC 0.323000 42 54 0 0 0.014410 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659578 24659578 + RNA SNP A A G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr22:24659578A>G ENST00000414583.2 + 0 3103 NR_003714.1 TGCGCAGGCCAACACTCACTG 0.617000 4 20 0 0 0.009096 0 0 HBD 3045 broad.mit.edu 37 11 5255269 5255269 + Silent SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:5255269C>G ENST00000380299.3 - 2 481 c.267G>C c.(265-267)ctG>ctC p.L89L HBD_ENST00000292901.3_Silent_p.L89L NM_000519.3 NP_000510.1 P02042 HBD_HUMAN hemoglobin, delta 89 L -> V (in Lucania; dbSNP:rs34933313). blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 16 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCAGCTCACTCAGCTGAGAAA 0.493000 30 60 0 0 0.010818 0 0 OSGEPL1 64172 broad.mit.edu 37 2 190617430 190617430 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:190617430C>T ENST00000264151.5 - 7 1217 c.1115G>A c.(1114-1116)cGt>cAt p.R372H OSGEPL1_ENST00000519810.1_Intron|OSGEPL1_ENST00000522700.1_Missense_Mutation_p.R372H NM_022353.2 NP_071748.2 Q9H4B0 OSGP2_HUMAN O-sialoglycoprotein endopeptidase-like 1 372 proteolysis|tRNA processing metalloendopeptidase activity large_intestine(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831) CAAGCCAGCACGTAGTCTTTC 0.343000 28 59 0 0 0.027356 0 0 BMS1P20 96610 broad.mit.edu 37 22 22661474 22661474 + RNA SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr22:22661474C>T ENST00000426066.1 + 0 364 NR_027293.1 CCCTCAGATGCGTCTGAAGAA 0.493000 11 82 0 0 0.028581 0 0 USP6NL 9712 broad.mit.edu 37 10 11505446 11505446 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr10:11505446G>A ENST00000379237.1 - 15 1875 c.1481C>T c.(1480-1482)tCa>tTa p.S494L USP6NL_ENST00000277575.5_Missense_Mutation_p.S511L NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like 494 intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 CTCTGTAGCTGAGACGTCTGA 0.537000 46 206 0 0 0.014410 0 0 TNIK 23043 broad.mit.edu 37 3 170786641 170786641 + Missense_Mutation SNP G G T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr3:170786641G>T ENST00000436636.2 - 30 4039 c.3695C>A c.(3694-3696)tCt>tAt p.S1232Y TNIK_ENST00000470834.1_Missense_Mutation_p.S1195Y|TNIK_ENST00000357327.5_Missense_Mutation_p.S1203Y|TNIK_ENST00000341852.6_Missense_Mutation_p.S1148Y|TNIK_ENST00000284483.8_Missense_Mutation_p.S1224Y|TNIK_ENST00000538048.1_Missense_Mutation_p.S1184Y|TNIK_ENST00000488470.1_Missense_Mutation_p.S1177Y|TNIK_ENST00000475336.1_Missense_Mutation_p.S1140Y|TNIK_ENST00000369326.5_Missense_Mutation_p.S1210Y|TNIK_ENST00000460047.1_Missense_Mutation_p.S1169Y NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 1232 CNH. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) ACTTACATGAGATGGTATGTA 0.363000 8 46 0.000157383 0.000163462 0.038147 1 0 KANSL2 54934 broad.mit.edu 37 12 49073534 49073534 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr12:49073534C>T ENST00000550347.1 - 2 926 c.883G>A c.(883-885)Ggt>Agt p.G295S KANSL2_ENST00000553086.1_Missense_Mutation_p.G112S|KANSL2_ENST00000420613.2_Missense_Mutation_p.G112S|KANSL2_ENST00000357861.3_5'UTR Q9H9L4 CL041_HUMAN KAT8 regulatory NSL complex subunit 2 112 p.G112C(2) AGTGTTTCACCCACAGGCCCT 0.507000 6 17 0 0 0.021553 0 0 INTS10 55174 broad.mit.edu 37 8 19681434 19681434 + Missense_Mutation SNP A A G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:19681434A>G ENST00000397977.3 + 7 1113 c.715A>G c.(715-717)Aag>Gag p.K239E NM_018142.2 NP_060612.2 Q9NVR2 INT10_HUMAN integrator complex subunit 10 239 snRNA processing integrator complex protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 20 Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215) TAGCTCTCAGAAGTACATAAT 0.398000 24 50 0 0 0.024334 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21471722 21471722 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr12:21471722C>G ENST00000307378.6 - 4 916 c.196G>C c.(196-198)Gag>Cag p.E66Q SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.E64Q|SLCO1A2_ENST00000473830.1_5'UTR|SLCO1A2_ENST00000537524.1_5'UTR|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E66Q NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 66 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 TTACCAATCTCAAAGCTTCCA 0.328000 23 61 0 0 0.016522 0 0 DDX58 23586 broad.mit.edu 37 9 32493813 32493813 + Silent SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr9:32493813G>A ENST00000379882.1 - 2 391 c.234C>T c.(232-234)atC>atT p.I78I DDX58_ENST00000542096.1_Silent_p.I52I|DDX58_ENST00000545044.1_5'UTR|DDX58_ENST00000379868.1_5'UTR|DDX58_ENST00000379883.2_Silent_p.I123I O95786 DDX58_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 123 CARD 1. detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;0.00056) GATCAGAAATGATATCGGTTG 0.274000 26 23 0 0 0.027356 0 0 PLEC 5339 broad.mit.edu 37 8 144996152 144996152 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:144996152C>G ENST00000322810.4 - 32 8417 c.8248G>C c.(8248-8250)Gag>Cag p.E2750Q PLEC_ENST00000436759.2_Missense_Mutation_p.E2640Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E2581Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E2591Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E2613Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E2617Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E2636Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E2599Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E2613Q NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2750 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GTGACCTCCTCTGAGTGCGCC 0.687000 4 45 0 0 0.009096 0 0 M1AP 130951 broad.mit.edu 37 2 74785901 74785901 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:74785901G>A ENST00000290536.5 - 11 1651 c.1535C>T c.(1534-1536)tCt>tTt p.S512F M1AP_ENST00000358434.2_Missense_Mutation_p.S161F|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.S508F|M1AP_ENST00000409585.1_Missense_Mutation_p.S508F NM_138804.3 NP_620159.2 meiosis 1 associated protein ATCTGAGGAAGATTTGCTGGC 0.587000 14 85 0 0 0.020292 0 0 NOTCH1 4851 broad.mit.edu 37 9 139400138 139400138 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr9:139400138C>T ENST00000277541.6 - 25 4285 c.4210G>A c.(4210-4212)Gag>Aag p.E1404K NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1404 EGF-like 36. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GATGTGGGCTCACAGGTCCCC 0.677000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 35 49 0 0 0.013726 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659591 24659591 + RNA SNP A A G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr22:24659591A>G ENST00000414583.2 + 0 3116 NR_003714.1 ACTCACTGACATCGAAGGCTG 0.632000 4 24 0 0 0.014758 0 0 BEND2 139105 broad.mit.edu 37 X 18183158 18183158 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chrX:18183158C>G ENST00000380033.4 - 14 2503 c.2371G>C c.(2371-2373)Gat>Cat p.D791H NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 791 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 GCGTCGGGATCTCCTGGCTTT 0.478000 64 43 0 0 0.014410 0 0 PLEC 5339 broad.mit.edu 37 8 144995066 144995066 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:144995066C>G ENST00000322810.4 - 32 9503 c.9334G>C c.(9334-9336)Gag>Cag p.E3112Q PLEC_ENST00000436759.2_Missense_Mutation_p.E3002Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E2943Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E2953Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E2975Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E2979Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E2998Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E2961Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E2975Q NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3112 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CGCAGGCCCTCAAAGCAAAGC 0.647000 13 35 0 0 0.016723 0 0 SDF4 51150 broad.mit.edu 37 1 1164020 1164020 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:1164020C>T ENST00000263741.7 - 2 446 c.154G>A c.(154-156)Gag>Aag p.E52K SDF4_ENST00000459994.2_5'UTR|SDF4_ENST00000545427.1_Missense_Mutation_p.E52K|SDF4_ENST00000360001.6_Missense_Mutation_p.E52K NM_016176.3|NM_016547.2 NP_057260.2|NP_057631.1 Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 52 cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis bleb|Golgi lumen|late endosome|soluble fraction calcium ion binding|identical protein binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) TCATTCTCCTCCCTGTTGGCT 0.627000 29 44 0 0 0.041601 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151161325 151161325 + Nonsense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:151161325C>T ENST00000367328.1 + 17 3763 c.3451C>T c.(3451-3453)Cag>Tag p.Q1151* PLEKHG1_ENST00000358517.2_Nonsense_Mutation_p.Q1151* NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 1151 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) GGTAGTAAGTCAGCCCAACAA 0.522000 25 114 0 0 0.016522 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659593 24659593 + RNA SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr22:24659593C>T ENST00000414583.2 + 0 3118 NR_003714.1 TCACTGACATCGAAGGCTGCC 0.632000 4 24 0 0 0.014758 0 0 ACVR1 90 broad.mit.edu 37 2 158617419 158617419 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:158617419C>G ENST00000263640.3 - 9 1666 c.1237G>C c.(1237-1239)Gaa>Caa p.E413Q ACVR1_ENST00000409283.2_Missense_Mutation_p.E413Q|ACVR1_ENST00000434821.1_Missense_Mutation_p.E413Q|ACVR1_ENST00000410057.2_Missense_Mutation_p.E413Q NM_001105.4 NP_001096.1 Q04771 ACVR1_HUMAN activin A receptor, type I 413 Protein kinase. BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway activin receptor complex activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 19 BRCA - Breast invasive adenocarcinoma(221;0.104) Adenosine triphosphate(DB00171) CTGGCCACTTCCCACAAAACA 0.433000 5 34 0 0 0.029380 0 0 SPEF2 79925 broad.mit.edu 37 5 35692806 35692806 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr5:35692806G>A ENST00000440995.2 + 12 1879 c.1879G>A c.(1879-1881)Gag>Aag p.E627K SPEF2_ENST00000509059.1_Missense_Mutation_p.E627K|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.E627K Q9C093 SPEF2_HUMAN sperm flagellar 2 627 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGTTCTGCAAGAGGAGATTAA 0.393000 21 41 0 0 0.016522 0 0 ABCC8 6833 broad.mit.edu 37 11 17427072 17427072 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:17427072C>G ENST00000302539.4 - 27 3496 c.3371G>C c.(3370-3372)aGa>aCa p.R1124T ABCC8_ENST00000389817.3_Missense_Mutation_p.R1123T NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1123 ABC transmembrane type-1 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AGATGAAAATCTGTTCAGGAT 0.512000 46 101 0 0 0.014410 0 0 CASP1 834 broad.mit.edu 37 11 104901918 104901918 + Missense_Mutation SNP T T C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:104901918T>C ENST00000533400.1 - 4 462 c.427A>G c.(427-429)Agg>Ggg p.R143G CASP1_ENST00000446369.1_Missense_Mutation_p.R50G|CASP1_ENST00000436863.3_Missense_Mutation_p.R143G|CASP1_ENST00000393136.4_Missense_Mutation_p.R122G|CASP1_ENST00000525825.1_Missense_Mutation_p.R122G|CASP1_ENST00000526568.1_Missense_Mutation_p.R50G|CASP1_ENST00000534497.1_Missense_Mutation_p.R50G|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000593315.1_Missense_Mutation_p.R122G|CASP1_ENST00000527979.1_Missense_Mutation_p.R106G|CASP1_ENST00000528974.1_Missense_Mutation_p.R104G|CASP1_ENST00000594519.1_Missense_Mutation_p.R50G|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000598974.1_Missense_Mutation_p.R143G NM_001257118.1 NP_001244047.1 P29466 CASP1_HUMAN caspase 1, apoptosis-related cysteine peptidase 143 cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) TTCCATATCCTTTGAGCTTCT 0.507000 16 24 0 0 0.028581 0 0 CCHCR1 54535 broad.mit.edu 37 6 31118878 31118878 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:31118878G>C ENST00000396268.3 - 5 1011 c.823C>G c.(823-825)Cac>Gac p.H275D CCHCR1_ENST00000376266.5_Missense_Mutation_p.H186D|CCHCR1_ENST00000451521.2_Missense_Mutation_p.H239D|CCHCR1_ENST00000396263.2_Missense_Mutation_p.H186D|CCHCR1_ENST00000480060.1_Intron NM_001105563.1|NM_001105564.1 NP_001099033.1|NP_001099034.1 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 186 E -> D (in dbSNP:rs130067). cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1) 23 GCCTCCTCGTGAGCCTGTGTC 0.572000 41 146 0 0 0.036044 0 0 KMT2A 4297 broad.mit.edu 37 11 118339526 118339526 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:118339526G>A ENST00000534358.1 + 2 492 c.469G>A c.(469-471)Gtc>Atc p.V157I KMT2A_ENST00000389506.5_Missense_Mutation_p.V157I|KMT2A_ENST00000354520.4_Missense_Mutation_p.V157I NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A AGATGAAGAAGTCAGAGTGCG 0.408000 19 28 0 0 0.008871 0 0 EPB41L1 2036 broad.mit.edu 37 20 34761727 34761727 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr20:34761727G>A ENST00000338074.2 + 2 189 c.28G>A c.(28-30)Gag>Aag p.E10K EPB41L1_ENST00000441639.1_Intron|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373941.1_Missense_Mutation_p.E10K|EPB41L1_ENST00000373950.2_Intron|EPB41L1_ENST00000202028.5_Intron NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 10 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) CCCCGACTCTGAGGTGAAGAA 0.627000 20 69 0 0 0.014323 0 0 CUL7 9820 broad.mit.edu 37 6 43008291 43008291 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:43008291C>T ENST00000535468.1 - 21 4338 c.4252G>A c.(4252-4254)Gag>Aag p.E1418K CUL7_ENST00000265348.3_Missense_Mutation_p.E1334K NM_001168370.1|NM_014780.4 NP_001161842.1|NP_055595.2 Q14999 CUL7_HUMAN cullin 7 1334 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) TCTGTATCCTCCAGCTTCAGG 0.567000 57 187 0 0 0.014410 0 0 BAZ2B 29994 broad.mit.edu 37 2 160245956 160245956 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:160245956C>G ENST00000392783.2 - 21 3611 c.3116G>C c.(3115-3117)aGa>aCa p.R1039T BAZ2B_ENST00000392782.1_Missense_Mutation_p.R1003T|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R939T|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000355831.2_Missense_Mutation_p.R1005T NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1039 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 TTTATTTAATCTTTTCTCATC 0.323000 23 56 0 0 0.014323 0 0 SMAD4 4089 broad.mit.edu 37 18 48584552 48584552 + Nonsense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr18:48584552C>G ENST00000342988.3 + 6 1263 c.725C>G c.(724-726)tCa>tGa p.S242* SMAD4_ENST00000588745.1_Intron|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S242* NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 242 BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2)|p.S242*(1) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) CAGATAGCATCAGGGCCTCAG 0.433000 21 14 0 0 0.010504 0 0 LDLR 3949 broad.mit.edu 37 19 11242105 11242105 + Missense_Mutation SNP A A G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr19:11242105A>G ENST00000557933.1 + 18 2845 c.2758A>G c.(2758-2760)Ata>Gta p.I920V LDLR_ENST00000558518.1_3'UTR|LDLR_ENST00000558013.1_3'UTR|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000535915.1_3'UTR|LDLR_ENST00000545707.1_3'UTR|LDLR_ENST00000455727.2_3'UTR P01130 LDLR_HUMAN low density lipoprotein receptor 0 cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) TTTGTTTTATATATTTATTCA 0.488000 OREG0025249 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 15 0 0 0.008291 0 0 CORO1A 11151 broad.mit.edu 37 16 30199820 30199820 + Missense_Mutation SNP C C T rs150186033 byFrequency TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr16:30199820C>T ENST00000219150.5 + 10 1509 c.1204C>T c.(1204-1206)Cgg>Tgg p.R402W CORO1A_ENST00000565497.1_Intron|CORO1A_ENST00000570045.1_Missense_Mutation_p.R402W NM_001193333.2|NM_007074.3 NP_001180262.1|NP_009005.1 P31146 COR1A_HUMAN coronin, actin binding protein, 1A 402 cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 9 CCCAAAGAGCCGGGAGCTGAG 0.701000 20 29 0 0 0.008871 0 0 CIRH1A 84916 broad.mit.edu 37 16 69199456 69199456 + Silent SNP A A G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr16:69199456A>G ENST00000563094.1 + 15 1894 c.1860A>G c.(1858-1860)aaA>aaG p.K620K CIRH1A_ENST00000314423.7_Intron|CIRH1A_ENST00000352319.4_Intron Q969X6 CIR1A_HUMAN cirrhosis, autosomal recessive 1A (cirhin) 0 nucleolus protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(108;0.125) TACCTCCCAAATCTTCTTCTG 0.403000 14 24 0 0 0.016723 0 0 PCDH19 57526 broad.mit.edu 37 X 99657785 99657785 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chrX:99657785C>G ENST00000373034.4 - 3 4028 c.2353G>C c.(2353-2355)Gac>Cac p.D785H PCDH19_ENST00000420881.2_Missense_Mutation_p.D738H|PCDH19_ENST00000255531.7_Missense_Mutation_p.D738H NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 785 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 AGGCGGATGTCATTCTTACTG 0.448000 10 14 0 0 0.006214 0 0 EPB42 2038 broad.mit.edu 37 15 43508574 43508574 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr15:43508574G>A ENST00000300215.3 - 2 635 c.178C>T c.(178-180)Cgc>Tgc p.R60C EPB42_ENST00000540029.1_Missense_Mutation_p.R30C|EPB42_ENST00000441366.2_Missense_Mutation_p.R30C P16452 EPB42_HUMAN erythrocyte membrane protein band 4.2 30 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) ACAAAGAGGCGCCGGGAGCTG 0.582000 27 50 0 0 0.027356 0 0 PLEC 5339 broad.mit.edu 37 8 144996395 144996395 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:144996395C>T ENST00000322810.4 - 32 8174 c.8005G>A c.(8005-8007)Gag>Aag p.E2669K PLEC_ENST00000436759.2_Missense_Mutation_p.E2559K|PLEC_ENST00000398774.2_Missense_Mutation_p.E2500K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2510K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2532K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2536K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2555K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2518K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2532K NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2669 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 tgctgctCCTCACGCAGCTGC 0.672000 9 8 0 0 0.006214 0 0 HUWE1 10075 broad.mit.edu 37 X 53560308 53560308 + Missense_Mutation SNP C C A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chrX:53560308C>A ENST00000342160.3 - 83 13544 c.13087G>T c.(13087-13089)Gct>Tct p.A4363S HUWE1_ENST00000262854.6_Missense_Mutation_p.A4363S Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 4363 HECT. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TCCTGGATAGCCAACAGTAGC 0.512000 8 5 0.000157383 0.000163462 0.038147 1 0 LMO7 4008 broad.mit.edu 37 13 76381901 76381901 + Silent SNP A A G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr13:76381901A>G ENST00000357063.3 + 11 2898 c.1638A>G c.(1636-1638)gtA>gtG p.V546V LMO7_ENST00000465261.2_Silent_p.V261V|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000377534.3_Silent_p.V546V|LMO7_ENST00000321797.8_Silent_p.V261V|LMO7_ENST00000526202.1_Intron Q8WWI1 LMO7_HUMAN LIM domain 7 546 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) ATGATTCTGTAGAGCGAGATA 0.388000 30 59 0 0 0.034045 0 0 TENM4 26011 broad.mit.edu 37 11 78381038 78381038 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:78381038C>T ENST00000278550.7 - 32 6814 c.6352G>A c.(6352-6354)Gag>Aag p.E2118K NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 CCAAACTGCTCTGTCTTGCCT 0.478000 19 26 0 0 0.038395 0 0 CATSPER1 117144 broad.mit.edu 37 11 65793518 65793518 + Silent SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:65793518G>A ENST00000312106.5 - 1 470 c.333C>T c.(331-333)taC>taT p.Y111Y NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 111 His-rich. cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 AGTCCTCACCGTAGGAACGGT 0.597000 22 125 0 0 0.012319 0 0 PHF20L1 51105 broad.mit.edu 37 8 133837598 133837598 + Missense_Mutation SNP A A G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:133837598A>G ENST00000395386.2 + 14 2025 c.1726A>G c.(1726-1728)Aag>Gag p.K576E PHF20L1_ENST00000395390.2_Missense_Mutation_p.K551E|PHF20L1_ENST00000220847.7_5'UTR NM_016018.4 NP_057102.4 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 576 Lys-rich. nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2) 15 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) aaaaaagaaaaagaaATCTAA 0.303000 7 0 0 0 0.029380 0 0 ZNF254 9534 broad.mit.edu 37 19 24309211 24309211 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr19:24309211G>A ENST00000357002.4 + 4 524 c.409G>A c.(409-411)Gaa>Aaa p.E137K ZNF254_ENST00000342944.6_Missense_Mutation_p.E52K NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 137 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) GGTGAACAAAGAAGGTTATAA 0.299000 23 34 0 0 0.012319 0 0 C15orf27 123591 broad.mit.edu 37 15 76426621 76426621 + Missense_Mutation SNP C C G rs114291110 by1000genomes TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr15:76426621C>G ENST00000388942.3 + 2 293 c.17C>G c.(16-18)tCt>tGt p.S6C NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 6 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 GTGGCTCCATCTTTCAACATG 0.463000 26 38 0 0 0.030593 0 0 EI24 9538 broad.mit.edu 37 11 125453532 125453532 + Nonsense_Mutation SNP C C A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:125453532C>A ENST00000278903.6 + 12 1216 c.974C>A c.(973-975)tCa>tAa p.S325* STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000343678.4_3'UTR|EI24_ENST00000530985.1_3'UTR NM_004879.3 NP_004870.3 O14681 EI24_HUMAN etoposide induced 2.4 326 apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth endoplasmic reticulum membrane|integral to membrane|nuclear membrane large_intestine(1)|lung(9)|ovary(1) 11 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975) AAGTTCCCTTCACCGCATCCG 0.552000 15 22 1.3612e-06 1.44479e-06 0.024245 1 0 FSCB 84075 broad.mit.edu 37 14 44975541 44975541 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr14:44975541G>A ENST00000340446.4 - 1 941 c.650C>T c.(649-651)tCa>tTa p.S217L NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 217 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) CTGAGTAAATGAAGTTCTGCT 0.393000 26 64 0 0 0.021523 0 0 TP53 7157 broad.mit.edu 37 17 7578203 7578203 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:7578203C>T ENST00000420246.2 - 6 778 c.646G>A c.(646-648)Gtg>Atg p.V216M TP53_ENST00000359597.4_Missense_Mutation_p.V216M|TP53_ENST00000413465.2_Missense_Mutation_p.V216M|TP53_ENST00000455263.2_Missense_Mutation_p.V216M|TP53_ENST00000269305.4_Missense_Mutation_p.V216M|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.V216M NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 216 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCACCACCACACTATGTCGA 0.537000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 27 10 0 0 0.037714 0 0 ZZEF1 23140 broad.mit.edu 37 17 3979948 3979948 + Missense_Mutation SNP C C T rs143736611 byFrequency TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:3979948C>T ENST00000381638.2 - 21 3341 c.3217G>A c.(3217-3219)Gaa>Aaa p.E1073K ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 1073 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 AGTCCTCCTTCGGGGCCACTA 0.552000 10 26 0 0 0.006214 0 0 PPFIA4 8497 broad.mit.edu 37 1 203025593 203025593 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:203025593G>C ENST00000367240.2 + 17 2661 c.2134G>C c.(2134-2136)Gag>Cag p.E712Q PPFIA4_ENST00000414050.2_Missense_Mutation_p.E440Q|PPFIA4_ENST00000599966.1_Missense_Mutation_p.E227Q|PPFIA4_ENST00000272198.6_Missense_Mutation_p.E227Q|PPFIA4_ENST00000447715.2_Missense_Mutation_p.E711Q|PPFIA4_ENST00000295706.4_Missense_Mutation_p.E227Q O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 227 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 GCTGCGGCTAGAGAAGCTTGG 0.567000 8 30 0 0 0.038147 0 0 FZD6 8323 broad.mit.edu 37 8 104343656 104343656 + Silent SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:104343656C>G ENST00000358755.4 + 7 2357 c.2040C>G c.(2038-2040)ctC>ctG p.L680L FZD6_ENST00000540287.1_Silent_p.L375L|FZD6_ENST00000523739.1_Silent_p.L648L|FZD6_ENST00000522566.1_Silent_p.L680L NM_001164616.1|NM_003506.3 NP_001158088.1|NP_003497.2 O60353 FZD6_HUMAN frizzled family receptor 6 680 angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) CAAGCAGCCTCAAAGGTTCCA 0.448000 34 105 0 0 0.015359 0 0 ATP10A 57194 broad.mit.edu 37 15 25953381 25953381 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr15:25953381G>A ENST00000356865.6 - 11 2522 c.2411C>T c.(2410-2412)gCg>gTg p.A804V NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 804 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GCCTTCCGCCGCATACACGTT 0.567000 4 132 0 0 0.009096 0 0 ARAP1 116985 broad.mit.edu 37 11 72406446 72406446 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:72406446C>G ENST00000359373.5 - 26 4413 c.3562G>C c.(3562-3564)Gag>Cag p.E1188Q ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393605.3_Missense_Mutation_p.E948Q|ARAP1_ENST00000455638.2_Missense_Mutation_p.E1188Q|ARAP1_ENST00000334211.8_Missense_Mutation_p.E943Q|ARAP1_ENST00000426523.1_Missense_Mutation_p.E943Q|ARAP1_ENST00000429686.1_Missense_Mutation_p.E882Q|ARAP1_ENST00000393609.3_Missense_Mutation_p.E1188Q Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 1188 Ras-associating. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 ATATGCTGCTCAGTCTCTGCC 0.577000 14 52 0 0 0.033300 0 0 LRRC7 57554 broad.mit.edu 37 1 70504339 70504340 + Frame_Shift_Ins INS - - A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:70504339_70504340insA ENST00000310961.5 + 22 3151_3152 c.2733_2734insA c.(2731-2736)agatgtfs p.C912fs LRRC7_ENST00000415775.2_Frame_Shift_Ins_p.C191fs|LRRC7_ENST00000035383.5_Frame_Shift_Ins_p.C907fs Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 907 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 GGAGTCTTAGTAATGTCTTTTC 0.401 10 64 --- --- --- --- TUFT1 7286 broad.mit.edu 37 1 151542192 151542206 + In_Frame_Del DEL GGCCAAGCTTCAGGA GGCCAAGCTTCAGGA - rs149655288 TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:151542192_151542206delGGCCAAGCTTCAGGA ENST00000368849.3 + 7 602_616 c.540_554delGGCCAAGCTTCAGGA c.(538-555)ctg>ct p.LAKLQE180del TUFT1_ENST00000392712.3_In_Frame_Del_p.LAKLQE125del|TUFT1_ENST00000353024.3_In_Frame_Del_p.LAKLQE121del|TUFT1_ENST00000368848.2_In_Frame_Del_p.LAKLQE155del|TUFT1_ENST00000538902.1_In_Frame_Del_p.LAKLQE199del NM_020127.2 NP_064512.1 Q9NNX1 TUFT1_HUMAN tuftelin 1 180 bone mineralization|odontogenesis cytoplasm|extracellular region structural constituent of tooth enamel cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) AGGACTTGCTGGCCAAGCTTCAGGAGGCCAAGCGG 0.540 39 203 --- --- --- --- NCAPG 64151 broad.mit.edu 37 4 17841312 17841313 + Frame_Shift_Ins INS - - T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr4:17841312_17841313insT ENST00000251496.2 + 17 2656_2657 c.2480_2481insT c.(2479-2481)cgafs p.R827fs NM_022346.3 NP_071741.2 Q9BPX3 CND3_HUMAN non-SMC condensin I complex, subunit G 827 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 27 STAD - Stomach adenocarcinoma(129;0.18) TTAACAGTACATGACAATTTGG 0.312 9 31 --- --- --- --- PET112 5188 broad.mit.edu 37 4 152593929 152593930 + Frame_Shift_Ins INS - - T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr4:152593929_152593930insT ENST00000263985.6 - 12 1569_1570 c.1529_1530insA c.(1528-1530)ggcfs p.G510fs PET112_ENST00000515812.1_Frame_Shift_Ins_p.G469fs|PET112_ENST00000507592.1_5'UTR NM_004564.2 NP_004555.1 O75879 GATB_HUMAN PET112 homolog (yeast) 510 mitochondrion ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 23 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GAGGATGGGCCTCCATCACAGA 0.609 17 35 --- --- --- --- DDX43 55510 broad.mit.edu 37 6 74114465 74114466 + Frame_Shift_Ins INS - - A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:74114465_74114466insA ENST00000370336.4 + 5 779_780 c.621_622insA c.(619-624)gctgtcfs p.V208fs DDX43_ENST00000539829.1_Intron NM_018665.2 NP_061135.2 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 208 intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 CCACAAGTGCCATGTCAAAAGT 0.361 75 102 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110455173 110455174 + Splice_Site INS - - G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:110455173_110455174insG ENST00000378402.5 + 36 4497 c.e36-1 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTTATGGCAGGTTCATTTTC 0.322 HNSCC(38;0.096) 8 126 --- --- --- --- ACO1 48 broad.mit.edu 37 9 32448900 32448900 + Frame_Shift_Del DEL A A - TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr9:32448900delA ENST00000379923.1 + 21 2583 c.2377delA c.(2377-2379)aafs p.K793fs ACO1_ENST00000309951.5_Frame_Shift_Del_p.K793fs|ACO1_ENST00000541043.1_Frame_Shift_Del_p.K694fs NM_001278352.1 NP_001265281.1 P21399 ACOC_HUMAN aconitase 1, soluble 793 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 30 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) TCAGGGAATCAAAGCCGTCCT 0.468 34 24 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139410477 139410477 + Frame_Shift_Del DEL T T - TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr9:139410477delT ENST00000277541.6 - 10 1700 c.1625delA c.(1624-1626)agfs p.K542fs NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 542 EGF-like 14; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GTCCAGGCACTTGGCACCATT 0.667 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 54 17 --- --- --- --- MICALCL 84953 broad.mit.edu 37 11 12316384 12316389 + In_Frame_Del DEL CTCCTA CTCCTA - rs3812754 byFrequency TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:12316384_12316389delCTCCTA ENST00000256186.2 + 3 1697_1702 c.1406_1411delCTCCTA c.(1405-1413)cca>c p.PPT469del NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 469 Poly-Pro. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.T471delT(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) cctcctcctcctcctACAGCGGGAGG 0.573 8 3 --- --- --- --- MTHFD1 4522 broad.mit.edu 37 14 64906869 64906879 + Frame_Shift_Del DEL GTGAAATTATG GTGAAATTATG - TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr14:64906869_64906879delGTGAAATTATG ENST00000555709.1 + 18 2087_2097 c.1700_1710delGTGAAATTATG c.(1699-1710)afs p.SEIM567fs CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000555252.1_Frame_Shift_Del_p.SEIM547fs|MTHFD1_ENST00000545908.1_Frame_Shift_Del_p.SEIM623fs|MTHFD1_ENST00000216605.7_Frame_Shift_Del_p.SEIM623fs NM_005956.3 NP_005947.3 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 567 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) TCTGTGGCCAGTGAAATTATGGCTGTCCTGG 0.479 24 38 --- --- --- --- TNRC6A 27327 broad.mit.edu 37 16 24802886 24802887 + Frame_Shift_Ins INS - - T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr16:24802886_24802887insT ENST00000395799.3 + 6 3052_3053 c.2923_2924insT c.(2923-2925)accfs p.T975fs TNRC6A_ENST00000315183.7_Frame_Shift_Ins_p.T975fs NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 975 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) GGGGGGACCTATACCAGCCCCA 0.525 27 47 --- --- --- --- RALGAPA2 57186 broad.mit.edu 37 20 20621406 20621407 + Frame_Shift_Ins INS - - A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr20:20621406_20621407insA ENST00000202677.6 - 6 630_631 c.488_489insT c.(487-489)atcfs p.I163fs NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 163 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 CCCTGGATGACATGACTGCTGG 0.485 22 84 --- --- --- --- NCOA3 8202 broad.mit.edu 37 20 46279864 46279866 + In_Frame_Del DEL CAA CAA - rs112129664 byFrequency TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr20:46279864_46279866delCAA ENST00000372004.3 + 20 3994_3996 c.3778_3780delCAA c.(3778-3780)del p.Q1272del NCOA3_ENST00000341724.6_In_Frame_Del_p.Q1202del|NCOA3_ENST00000371997.3_In_Frame_Del_p.Q1267del|NCOA3_ENST00000371998.3_In_Frame_Del_p.Q1276del NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1276 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 gcagcagcagcaacagcaacagc 0.567 12 93 --- --- --- --- FLNA 2316 broad.mit.edu 37 X 153580304 153580305 + Frame_Shift_Del DEL AA AA - TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chrX:153580304_153580305delAA ENST00000422373.1 - 41 7078_7079 c.6830_6831delTT c.(6829-6831)tfs p.F2277fs FLNA_ENST00000369856.3_Frame_Shift_Del_p.F418fs|FLNA_ENST00000360319.4_Frame_Shift_Del_p.F2277fs|FLNA_ENST00000344736.4_Frame_Shift_Del_p.F2245fs|FLNA_ENST00000369850.3_Frame_Shift_Del_p.F2285fs NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 2285 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGCGGTCCTCAAAAGAGATCTC 0.619 40 22 --- --- --- ---