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 PKD1 5310 broad.mit.edu 37 16 2160529 2160529 + Missense_Mutation SNP G G A TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr16:2160529G>A ENST00000262304.4 - 15 4847 c.4639C>T c.(4639-4641)Cgc>Tgc p.R1547C PKD1_ENST00000423118.1_Missense_Mutation_p.R1547C NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 1547 PKD 10. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CCCCGCACGCGCCGCTTCACC 0.647000 3 104 0 0 1 0 0 CHRM3 1131 broad.mit.edu 37 1 240071606 240071606 + Silent SNP C C A TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr1:240071606C>A ENST00000255380.4 + 5 1634 c.855C>A c.(853-855)ggC>ggA p.G285G NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 285 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) ACCCCACGGGCAGTTCTCGAA 0.517000 16 21 1.3612e-06 1.48495e-06 1 1 0 CRISP2 7180 broad.mit.edu 37 6 49665595 49665595 + Missense_Mutation SNP A A T TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr6:49665595A>T ENST00000339139.4 - 8 729 c.493T>A c.(493-495)Tat>Aat p.Y165N NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3 NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 165 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) TGGCAAACATAGTAGTATTTT 0.328000 62 92 0 0 1 0 0 CA13 377677 broad.mit.edu 37 8 86178909 86178909 + Missense_Mutation SNP G G A TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr8:86178909G>A ENST00000321764.3 + 4 729 c.427G>A c.(427-429)Gct>Act p.A143T CA13_ENST00000517298.1_3'UTR NM_198584.2 NP_940986.1 Q8N1Q1 CAH13_HUMAN carbonic anhydrase XIII 143 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding large_intestine(1)|lung(6) 7 AGATGGACTGGCTGTCTTGGG 0.418000 38 38 0 0 1 0 0 KIAA0947 23379 broad.mit.edu 37 5 5462371 5462371 + Missense_Mutation SNP C C T TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr5:5462371C>T ENST00000296564.7 + 13 3146 c.2924C>T c.(2923-2925)gCt>gTt p.A975V NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 975 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 GTGAGAGAAGCTGCAGTGCAG 0.478000 9 11 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23904954 23904954 + Missense_Mutation SNP T T A TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr13:23904954T>A ENST00000382298.3 - 10 13649 c.13061A>T c.(13060-13062)cAt>cTt p.H4354L SACS_ENST00000402364.1_Missense_Mutation_p.H3604L|SACS_ENST00000382292.3_Missense_Mutation_p.H4354L NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 4354 J. cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) ATTCTGCAAATGTTTAAAAAC 0.383000 40 6 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 4 167 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219890815 219890815 + Missense_Mutation SNP G G A rs141456868 by1000genomes TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr2:219890815G>A ENST00000341552.5 - 14 2361 c.2278C>T c.(2278-2280)Cgg>Tgg p.R760W CCDC108_ENST00000453220.1_Missense_Mutation_p.R760W|CCDC108_ENST00000441968.1_Missense_Mutation_p.R760W NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 760 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTCGTGCCCGCACCGTCAGG 0.592000 4 89 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) 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) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 81 96 0 0 1 0 0 SUSD4 55061 broad.mit.edu 37 1 223441914 223441914 + Silent SNP G G A TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr1:223441914G>A ENST00000343846.3 - 3 1098 c.465C>T c.(463-465)taC>taT p.Y155Y SUSD4_ENST00000366878.4_Silent_p.Y155Y|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000344029.6_Silent_p.Y155Y|SUSD4_ENST00000454695.2_5'UTR Q5VX71 SUSD4_HUMAN sushi domain containing 4 155 Sushi 2. integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) GTAGGTCGGGGTACCGGATCT 0.448000 3 76 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154394056 154394056 + Missense_Mutation SNP C C T TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr5:154394056C>T ENST00000435029.4 + 1 797 c.637C>T c.(637-639)Cat>Tat p.H213Y NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 213 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GTCCCGATCTCATGCCATCTT 0.468000 40 34 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161578 90161578 + RNA SNP G G A rs13337896 by1000genomes TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr16:90161578G>A ENST00000567960.1 + 0 314 TUBB8P7_ENST00000564451.1_RNA p.R105H(3) GCCAAGGGACGCTACACCGAA 0.587000 3 46 0 0 1 0 0 SPHK1 8877 broad.mit.edu 37 17 74383472 74383472 + Silent SNP A A G TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr17:74383472A>G ENST00000545180.1 + 8 1769 c.960A>G c.(958-960)gtA>gtG p.V320V SPHK1_ENST00000323374.4_Silent_p.V406V|SPHK1_ENST00000392496.3_Silent_p.V320V|SPHK1_ENST00000590959.1_Silent_p.V334V|SPHK1_ENST00000592299.1_Silent_p.V320V Q9NYA1 SPHK1_HUMAN sphingosine kinase 1 320 'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1) 11 CCTACTTGGTATATGTGCCCG 0.592000 25 31 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871052 170871052 + Silent SNP G G A rs112083427 TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr6:170871052G>A ENST00000392092.2 + 3 507 c.228G>A c.(226-228)caG>caA p.Q76Q TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 76 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q76Q(4) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcagcagcagcagc 0.572000 3 55 0 0 1 0 0 FBXO44 93611 broad.mit.edu 37 1 11718892 11718892 + Missense_Mutation SNP G G A TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr1:11718892G>A ENST00000251546.4 + 4 700 c.463G>A c.(463-465)Gac>Aac p.D155N FBXO44_ENST00000251547.5_Silent_p.A196A|FBXO44_ENST00000376760.1_Missense_Mutation_p.D155N|FBXO44_ENST00000376762.4_Missense_Mutation_p.D155N|FBXO44_ENST00000376768.1_Missense_Mutation_p.D187N|FBXO44_ENST00000376770.1_Silent_p.A196A NM_183412.2 NP_904319.1 Q9H4M3 FBX44_HUMAN F-box protein 44 0 FBA. protein catabolic process SCF ubiquitin ligase complex protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) CAGACCCGGCGACCATCCAGC 0.672000 53 42 0 0 1 0 0 CNGA3 1261 broad.mit.edu 37 2 98999896 98999896 + Silent SNP G G A TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr2:98999896G>A ENST00000393504.1 + 5 858 c.441G>A c.(439-441)acG>acA p.T147T CNGA3_ENST00000409937.1_Silent_p.T151T|CNGA3_ENST00000436404.2_Intron|CNGA3_ENST00000272602.2_Silent_p.T147T NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 147 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 GCAACAACACGGAGGAGGAGT 0.587000 15 81 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178579222 178579222 + Missense_Mutation SNP C C T TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr5:178579222C>T ENST00000251582.7 - 10 1651 c.1550G>A c.(1549-1551)tGc>tAc p.C517Y ADAMTS2_ENST00000274609.5_Missense_Mutation_p.C517Y NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 517 Disintegrin. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) AGGATGGCTGCACCACAGCTG 0.607000 15 19 0 0 1 0 0 RRBP1 6238 broad.mit.edu 37 20 17639352 17639352 + Nonsense_Mutation SNP C C A TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr20:17639352C>A ENST00000377813.1 - 3 2104 c.1801G>T c.(1801-1803)Gag>Tag p.E601* RRBP1_ENST00000360807.4_Intron|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377807.2_Intron|RRBP1_ENST00000246043.4_Nonsense_Mutation_p.E601* Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 601 41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS]. protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 GAAGCTGACTCTGTCTTTTTA 0.517000 4 49 0.000602214 0.000637639 1 1 0 FAM217A 222826 broad.mit.edu 37 6 4069773 4069773 + Silent SNP T T C TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr6:4069773T>C ENST00000274673.3 - 7 1087 c.684A>G c.(682-684)ccA>ccG p.P228P FAM217A_ENST00000380188.2_5'UTR NM_173563.2 NP_775834.2 Q8IXS0 CF146_HUMAN family with sequence similarity 217, member A 228 TTATTGTTTCTGGCTTCAAGT 0.368000 10 99 0 0 1 0 0 ESCO2 157570 broad.mit.edu 37 8 27634109 27634109 + Missense_Mutation SNP A A G TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr8:27634109A>G ENST00000305188.8 + 3 522 c.284A>G c.(283-285)aAt>aGt p.N95S ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR NM_001017420.2 NP_001017420.1 Q56NI9 ESCO2_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 2 95 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) TGGTACCTCAATCCACTGGAG 0.358000 SC Phocomelia syndrome 7 44 0 0 1 0 0 CYB5R4 51167 broad.mit.edu 37 6 84634311 84634311 + Splice_Site SNP G G A TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr6:84634311G>A ENST00000369681.4 + 10 954 c.814_splice c.e10+1 p.G272_splice NM_016230.3 NP_057314.2 Q7L1T6 NB5R4_HUMAN cytochrome b5 reductase 4 272 cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) GAAAGATACAGGTATGCTGTG 0.348000 68 98 0 0 1 0 0 PHGDH 26227 broad.mit.edu 37 1 120286533 120286533 + Missense_Mutation SNP G G T TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr1:120286533G>T ENST00000369407.3 + 11 2877 c.1370G>T c.(1369-1371)cGg>cTg p.R457L PHGDH_ENST00000482968.1_3'UTR|PHGDH_ENST00000369409.4_Missense_Mutation_p.R491L O43175 SERA_HUMAN phosphoglycerate dehydrogenase 491 brain development|L-serine biosynthetic process electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 18 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593) NADH(DB00157) GCAGGCGTGCGGCTGCTGTCC 0.582000 OREG0013728 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 128 0.000978159 0.00100611 1 1 0 UBP1 7342 broad.mit.edu 37 3 33454278 33454278 + Silent SNP G G A rs143011066 TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr3:33454278G>A ENST00000283629.3 - 4 913 c.384C>T c.(382-384)taC>taT p.Y128Y UBP1_ENST00000283628.5_Silent_p.Y128Y|UBP1_ENST00000447368.2_Silent_p.Y128Y NM_001128161.1|NM_014517.4 NP_001121633.1|NP_055332.3 Q9NZI7 UBIP1_HUMAN upstream binding protein 1 (LBP-1a) 128 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2) 23 GATGCTCTGTGTATTGTAGCC 0.453000 4 144 0 0 1 0 0 CCDC6 8030 broad.mit.edu 37 10 61666066 61666066 + Silent SNP T T C TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr10:61666066T>C ENST00000263102.6 - 1 348 c.117A>G c.(115-117)ggA>ggG p.G39G NM_005436.4 NP_005427.2 Q16204 CCDC6_HUMAN coiled-coil domain containing 6 39 Poly-Gly. cytoplasm|cytoskeleton SH3 domain binding|structural constituent of cytoskeleton CCDC6/RET(4) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1) 18 Kidney(211;0.0597) cgccgccgcctcccccgccgc 0.726000 T RET NSCLC 9 42 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238280890 238280890 + Missense_Mutation SNP C C T TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr2:238280890C>T ENST00000295550.4 - 9 4222 c.3770G>A c.(3769-3771)aGg>aAg p.R1257K COL6A3_ENST00000392003.2_Missense_Mutation_p.R850K|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1056K|COL6A3_ENST00000472056.1_Missense_Mutation_p.R650K|COL6A3_ENST00000392004.3_Missense_Mutation_p.R1051K|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1051K|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1051K|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1057K NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1257 Nonhelical region.|VWFA 7. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GTCAACCAGCCTCTCTATGAG 0.582000 5 52 0 0 1 0 0 CALCB 797 broad.mit.edu 37 11 15096620 15096620 + Missense_Mutation SNP A A G TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr11:15096620A>G ENST00000523376.1 + 8 1395 c.133A>G c.(133-135)Agc>Ggc p.S45G CALCB_ENST00000533448.1_Missense_Mutation_p.S34G|CALCB_ENST00000324229.6_Missense_Mutation_p.S34G P10092 CALCB_HUMAN calcitonin-related polypeptide beta 34 cellular calcium ion homeostasis|signal transduction|vasodilation extracellular region|soluble fraction neuropeptide hormone activity endometrium(1)|large_intestine(1)|lung(1)|skin(2) 5 TGCCCTGGAGAGCAGCCCAGA 0.617000 OREG0020793 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 57 0 0 1 0 0 HBS1L 10767 broad.mit.edu 37 6 135287541 135287541 + Missense_Mutation SNP T T C TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr6:135287541T>C ENST00000367837.5 - 17 2175 c.1969A>G c.(1969-1971)Aaa>Gaa p.K657E HBS1L_ENST00000367826.2_Missense_Mutation_p.K615E|HBS1L_ENST00000527578.1_Missense_Mutation_p.K493E|HBS1L_ENST00000415177.2_Missense_Mutation_p.K592E|HBS1L_ENST00000367824.4_Missense_Mutation_p.K493E|HBS1L_ENST00000445176.2_Missense_Mutation_p.K381E NM_001145158.1|NM_006620.3 NP_001138630.1|NP_006611.1 Q9Y450 HBS1L_HUMAN HBS1-like (S. cerevisiae) 657 signal transduction GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 20 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) TTAAAGTCTTTATATAGCTCA 0.363000 6 160 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23887535 23887535 + Silent SNP C C T TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr14:23887535C>T ENST00000355349.3 - 30 4215 c.4053G>A c.(4051-4053)acG>acA p.T1351T NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1351 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 p.T1351T(1) 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) CCTTGGCCTCCGTCTCCTCCT 0.672000 3 110 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 7 126 0 0 1 0 0 DDX4 54514 broad.mit.edu 37 5 55088550 55088550 + Nonsense_Mutation SNP A A T TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr5:55088550A>T ENST00000505374.1 + 17 1476 c.1384A>T c.(1384-1386)Aag>Tag p.K462* DDX4_ENST00000511853.1_Nonsense_Mutation_p.K313*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.K442*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.K428*|DDX4_ENST00000354991.5_Nonsense_Mutation_p.K428* NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 462 Helicase ATP-binding. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) AGAAATGAAGAAGTTAATTTC 0.368000 31 34 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85639709 85639709 + Silent SNP G G A TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr4:85639709G>A ENST00000322366.6 - 47 7976 c.7569C>T c.(7567-7569)taC>taT p.Y2523Y WDFY3_ENST00000295888.4_Silent_p.Y2540Y Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2540 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GAGCACAGCGGTACATGTGTT 0.408000 3 56 0 0 1 0 0 RP11-190P13.2 0 broad.mit.edu 37 3 114998012 114998012 + RNA DEL G G - TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr3:114998012delG ENST00000459855.1 + 0 338 GACAACAATAGGGACCATGAT 0.403 2 4 --- --- --- --- MYO6 4646 broad.mit.edu 37 6 76599857 76599858 + Frame_Shift_Ins INS - - A TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr6:76599857_76599858insA ENST00000369981.3 + 26 3021_3022 c.2742_2743insA c.(2740-2745)caaaaafs p.QK914fs MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs Q9UM54 MYO6_HUMAN myosin VI 914 actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding p.K917fs*10(1) breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) GTGCATTACAGAAAAAAAAACA 0.381 7 76 --- --- --- --- ADCK5 203054 broad.mit.edu 37 8 145617535 145617549 + Splice_Site DEL GGGGGTGCAAGGTGA GGGGGTGCAAGGTGA - rs11270020 TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr8:145617535_145617549delGGGGGTGCAAGGTGA ENST00000308860.6 + 12 1301_1311 c.1267_splice c.e12+1 p.L419_splice NM_174922.3 NP_777582.3 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 419 Protein kinase. integral to membrane protein serine/threonine kinase activity p.?(2) endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2) 8 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;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA 0.730 3 4 --- --- --- --- TUSC1 286319 broad.mit.edu 37 9 25678177 25678178 + In_Frame_Ins INS - - CGC TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr9:25678177_25678178insCGC ENST00000358022.3 - 1 678_679 c.142_143insGCG c.(142-144)ggg>GCGggg p.47_48insA NM_001004125.2 NP_001004125.1 Q2TAM9 TUSC1_HUMAN tumor suppressor candidate 1 47 Gly-rich. kidney(1) 1 all_hematologic(1;0.197) all_neural(3;5.42e-18)|Glioma(3;5.54e-17) GBM - Glioblastoma multiforme(1;1.51e-108)|Lung(42;2.88e-14)|LUSC - Lung squamous cell carcinoma(38;3.16e-11) tcgccagcccacgccgccgccg 0.797 3 5 --- --- --- --- KDM2A 22992 broad.mit.edu 37 11 66995593 66995593 + Frame_Shift_Del DEL C C - TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr11:66995593delC ENST00000529006.2 + 11 1489 c.1043delC c.(1042-1044)tcfs p.S348fs KDM2A_ENST00000398645.2_Frame_Shift_Del_p.S348fs|KDM2A_ENST00000526258.1_3'UTR NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 348 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 ACCAACCGTTCCCACCTAACT 0.453 70 88 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + RNA INS - - C rs36063533 TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr12:7080212_7080213insC ENST00000546220.1 + 0 157_158 U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GAGGCCGTAGTTTATTGTGGTG 0.569 7 22 --- --- --- --- RP11-551L14.1 0 broad.mit.edu 37 12 31269189 31269190 + RNA INS - - ATCAT rs35880498 TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr12:31269189_31269190insATCAT ENST00000542490.1 - 0 165 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CATGAGAACTCATTACCATGAT 0.351 3 5 --- --- --- --- Z97634.5 0 broad.mit.edu 37 16 437287 437288 + RNA INS - - A rs137908843 TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr16:437287_437288insA ENST00000412293.1 + 0 521 NR_024453.2 cttgtcaccataaaaaaaaaaa 0.426 2 4 --- --- --- --- DBP 1628 broad.mit.edu 37 19 49139149 49139149 + Frame_Shift_Del DEL C C - TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr19:49139149delC ENST00000222122.5 - 2 681 c.238delG c.(238-240)cafs p.A80fs DBP_ENST00000601104.1_Frame_Shift_Del_p.A80fs NM_001352.3 NP_001343.2 Q10586 DBP_HUMAN D site of albumin promoter (albumin D-box) binding protein 80 regulation of transcription from RNA polymerase II promoter|rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155) CCCACCACTGCCCCAGCCGGG 0.761 2 4 --- --- --- --- AC008103.5 0 broad.mit.edu 37 22 18843723 18843724 + RNA INS - - A TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr22:18843723_18843724insA ENST00000412938.1 + 0 2337 AGGGGCACCCCACGGCCTGGAG 0.619 8 9 --- --- --- --- GGA1 26088 broad.mit.edu 37 22 38013055 38013055 + Frame_Shift_Del DEL G G - TCGA-FY-A3W9-01A-11D-A22D-08 TCGA-FY-A3W9-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 394b10da-aa66-49cb-8448-6c82165ae22a c2b952ae-aee7-4ac2-a122-bea1eead79f5 g.chr22:38013055delG ENST00000414350.3 + 3 642 c.255delG c.(253-255)aafs p.K85fs GGA1_ENST00000406772.1_Intron|GGA1_ENST00000405147.3_Intron|GGA1_ENST00000381756.5_Splice_Site_p.K85_splice|GGA1_ENST00000343632.4_Intron|GGA1_ENST00000337437.4_Intron|GGA1_ENST00000325180.8_Intron NM_001001561.2 NP_001001561.1 Q9UJY5 GGA1_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 1 0 VHS. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|Golgi apparatus part protein binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 10 Melanoma(58;0.0574) ACGACACCAAGGGAGGCCAAG 0.622 2 4 --- --- --- ---