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 HEG1 57493 broad.mit.edu 37 3 124748221 124748221 + Missense_Mutation SNP A A G TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr3:124748221A>G ENST00000311127.4 - 2 495 c.428T>C c.(427-429)aTg>aCg p.M143T NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 143 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 GGTCTGAACCATCACGCCCTC 0.488000 28 26 0 0 1 0 0 MCRS1 10445 broad.mit.edu 37 12 49959390 49959390 + Silent SNP A A G TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr12:49959390A>G ENST00000550165.1 - 5 476 c.210T>C c.(208-210)tcT>tcC p.S70S MCRS1_ENST00000546244.1_5'UTR|MCRS1_ENST00000357123.4_Silent_p.S83S|MCRS1_ENST00000343810.4_Silent_p.S70S Q96EZ8 MCRS1_HUMAN microspherule protein 1 70 Ser-rich. DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|MLL1 complex|nucleolus protein binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11) 23 TTGCCCGGGTAGAAGATTTTG 0.562000 65 154 0 0 1 0 0 DIS3 22894 broad.mit.edu 37 13 73345240 73345240 + Missense_Mutation SNP G G A TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr13:73345240G>A ENST00000377767.4 - 12 1749 c.1649C>T c.(1648-1650)tCc>tTc p.S550F DIS3_ENST00000377780.4_Missense_Mutation_p.S520F|DIS3_ENST00000545453.1_Missense_Mutation_p.S388F NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 550 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) ACATTTTAAGGAACACAAGTT 0.348000 Multiple Myeloma(4;0.011) 6 36 0 0 1 0 0 C6orf211 79624 broad.mit.edu 37 6 151789765 151789765 + Silent SNP A A G TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr6:151789765A>G ENST00000367294.3 + 5 1105 c.846A>G c.(844-846)ggA>ggG p.G282G C6orf211_ENST00000545879.1_Silent_p.G163G NM_024573.1 NP_078849.1 Q9H993 CF211_HUMAN chromosome 6 open reading frame 211 282 protein binding breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7) 15 BRCA - Breast invasive adenocarcinoma(37;0.183) OV - Ovarian serous cystadenocarcinoma(155;5.27e-11) ATTTTTATGGAAAAACAATTC 0.333000 6 90 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55240750 55240750 + Missense_Mutation SNP G G A TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr7:55240750G>A ENST00000275493.2 + 17 2171 c.1994G>A c.(1993-1995)gGc>gAc p.G665D EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.G612D|EGFR_ENST00000455089.1_Missense_Mutation_p.G620D NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 665 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CTGGGGATCGGCCTCTTCATG 0.652000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 386 78 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18023162 18023162 + Missense_Mutation SNP G G A TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr17:18023162G>A ENST00000205890.5 + 2 1386 c.1048G>A c.(1048-1050)Gac>Aac p.D350N NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 350 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TGCGCCGTACGACGCGCCATA 0.602000 13 129 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53945909 53945909 + RNA SNP T T C rs28727441 by1000genomes TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr19:53945909T>C ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ACCCTGACTCTGCCTGAGGCC 0.562000 4 59 0 0 1 0 0 VTI1A 143187 broad.mit.edu 37 10 114207166 114207166 + Missense_Mutation SNP T T C TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr10:114207166T>C ENST00000393077.2 + 1 151 c.35T>C c.(34-36)tTc>tCc p.F12S VTI1A_ENST00000432306.1_Missense_Mutation_p.F12S|VTI1A_ENST00000483122.1_3'UTR NM_145206.2 NP_660207.2 Q96AJ9 VTI1A_HUMAN vesicle transport through interaction with t-SNAREs 1A 12 intracellular protein transport|retrograde transport, endosome to Golgi SNARE complex protein transporter activity|SNAP receptor activity VTI1A/TCF7L2(8) breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 Colorectal(252;0.0314)|Breast(234;0.183) Epithelial(162;0.0126)|all cancers(201;0.0487) GAGCAGGACTTCGCGGTGCTC 0.647000 T TCF7L2 colorectal 12 10 0 0 1 0 0 ZNF157 7712 broad.mit.edu 37 X 47270081 47270081 + Missense_Mutation SNP C C A TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chrX:47270081C>A ENST00000377073.3 + 3 288 c.202C>A c.(202-204)Ctc>Atc p.L68I NM_003446.3 NP_003437.2 P51786 ZN157_HUMAN zinc finger protein 157 68 KRAB. negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 ATTAACAGGCCTCTGCGTGGC 0.517000 3 16 0.00024832 0.000273152 1 1 0 AKAP13 11214 broad.mit.edu 37 15 86284361 86284361 + Missense_Mutation SNP C C A TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr15:86284361C>A ENST00000394518.2 + 35 7788 c.7693C>A c.(7693-7695)Ccg>Acg p.P2565T AKAP13_ENST00000394510.2_Missense_Mutation_p.P810T|AKAP13_ENST00000361243.2_Missense_Mutation_p.P2569T|AKAP13_ENST00000560579.1_3'UTR NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 2565 Interaction with ESR1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 CTTGTCCCGCCCGAGCTCCCT 0.627000 11 20 0.00136819 0.00144713 1 1 0 DCAF12L2 340578 broad.mit.edu 37 X 125299247 125299247 + Missense_Mutation SNP G G A TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chrX:125299247G>A ENST00000538699.1 - 2 741 c.661C>T c.(661-663)Cgg>Tgg p.R221W DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R221W NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 221 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 GGGTCCATCCGCCACAGAGCC 0.637000 5 76 0 0 1 0 0 ZNF557 79230 broad.mit.edu 37 19 7083503 7083503 + Silent SNP C C G TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr19:7083503C>G ENST00000414706.1 + 8 1514 c.1041C>G c.(1039-1041)ccC>ccG p.P347P ZNF557_ENST00000439035.2_Silent_p.P340P|ZNF557_ENST00000252840.6_Silent_p.P347P NM_001044387.1|NM_001044388.1|NM_024341.2 NP_001037852.1|NP_001037853.1|NP_077317.2 Q8N988 ZN557_HUMAN zinc finger protein 557 340 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 Lung(535;0.179) GAGAAAAACCCTACACATGTA 0.423000 29 52 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100685498 100685498 + Missense_Mutation SNP G G C TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr7:100685498G>C ENST00000306151.4 + 3 10865 c.10801G>C c.(10801-10803)Gtt>Ctt p.V3601L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3601 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACTCCTTCTGTTGACAGAAG 0.463000 21 149 0 0 1 0 0 BUB1 699 broad.mit.edu 37 2 111415208 111415208 + Missense_Mutation SNP A A T TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr2:111415208A>T ENST00000535254.1 - 13 1538 c.1471T>A c.(1471-1473)Tct>Act p.S491T BUB1_ENST00000409311.1_Missense_Mutation_p.S511T|BUB1_ENST00000302759.6_Missense_Mutation_p.S511T NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 511 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) CAAGCCCCAGATGACCTTACA 0.303000 8 34 0 0 1 0 0 TCN2 6948 broad.mit.edu 37 22 31018998 31018998 + Missense_Mutation SNP G G A rs144166182 TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr22:31018998G>A ENST00000215838.3 + 8 1644 c.1150G>A c.(1150-1152)Gtg>Atg p.V384M TCN2_ENST00000405742.3_Missense_Mutation_p.V380M|TCN2_ENST00000407817.3_Missense_Mutation_p.V357M P20062 TCO2_HUMAN transcobalamin II 384 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular space cobalamin binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1) 22 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CTTAACCTCCGTGATGGGGAA 0.557000 13 106 0 0 1 0 0 EGF 1950 broad.mit.edu 37 4 110932547 110932547 + Nonsense_Mutation SNP C C A TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr4:110932547C>A ENST00000265171.5 + 24 4005 c.3560C>A c.(3559-3561)tCa>tAa p.S1187* EGF_ENST00000509793.1_Nonsense_Mutation_p.S1145*|EGF_ENST00000503392.1_Nonsense_Mutation_p.S1146* NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 1187 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 p.S1187L(1) 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) TCTCTCCTATCAGCTAACCCA 0.502000 12 127 1.3612e-06 1.55971e-06 1 1 0 SYN3 8224 broad.mit.edu 37 22 32923909 32923909 + Silent SNP C C T TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr22:32923909C>T ENST00000358763.2 - 12 1556 c.1314G>A c.(1312-1314)ccG>ccA p.P438P SYN3_ENST00000332840.5_Silent_p.P438P NM_001135774.1 NP_001129246.1 O14994 SYN3_HUMAN synapsin III 438 J; Pro-rich linker. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 TCATACCTTGCGGAGGTGGGC 0.587000 4 12 0 0 1 0 0 IGKV5-2 0 broad.mit.edu 37 2 89197262 89197262 + RNA SNP G G A TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr2:89197262G>A ENST00000390244.2 + 0 370 ATCTGAGGATGCTGCATATTA 0.438000 15 53 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34961676 34961676 + Missense_Mutation SNP G G A TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chrX:34961676G>A ENST00000329357.5 + 1 764 c.728G>A c.(727-729)cGc>cAc p.R243H NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 243 Pro-rich. breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 CCAGAGACTCGCGCATCTCAT 0.642000 11 72 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5153998 5153998 + Missense_Mutation SNP C C T TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr12:5153998C>T ENST00000252321.3 + 1 914 c.685C>T c.(685-687)Cgc>Tgc p.R229C NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 229 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 GCCCCTGCCCCGCAACGAGTT 0.607000 14 94 0 0 1 0 0 DPY19L2P2 0 broad.mit.edu 37 7 102912190 102912190 + RNA SNP T T G TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr7:102912190T>G ENST00000312132.4 - 0 2389 TCTGGATAAATATGGAAGCGT 0.343000 3 62 0 0 1 0 0 COL16A1 1307 broad.mit.edu 37 1 32157245 32157245 + Splice_Site SNP T T G TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr1:32157245T>G ENST00000373672.3 - 18 1774 c.e18-2 COL16A1_ENST00000373668.3_Splice_Site|COL16A1_ENST00000271069.6_Splice_Site NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) TGGCCGGCCCTGTGGGGGGAT 0.652000 5 40 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245849237 245849237 + Silent SNP C C T TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr1:245849237C>T ENST00000366518.4 + 9 1913 c.1809C>T c.(1807-1809)tcC>tcT p.S603S KIF26B_ENST00000407071.2_Silent_p.S984S Q2KJY2 KI26B_HUMAN kinesin family member 26B 984 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.S984S(2) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) ATAATGGGTCCGAAGGTCAGC 0.622000 5 30 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 30926645 30926645 + Missense_Mutation SNP G G A rs144668195 TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr11:30926645G>A ENST00000597505.1 - 29 4170 c.4171C>T c.(4171-4173)Cgg>Tgg p.R1391W DCDC1_ENST00000339794.5_Missense_Mutation_p.R470W|DCDC1_ENST00000406071.2_Missense_Mutation_p.R126W P59894 DCDC1_HUMAN doublecortin domain containing 1 153 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) GTCTTCATCCGTAAAGACAAT 0.403000 4 44 0 0 1 0 0 TLR7 51284 broad.mit.edu 37 X 12905054 12905054 + Missense_Mutation SNP G G C TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chrX:12905054G>C ENST00000380659.3 + 3 1566 c.1427G>C c.(1426-1428)aGa>aCa p.R476T NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 476 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) AGGAGTTGCAGATTCAAAAAC 0.368000 39 101 0 0 1 0 0 CASP4 837 broad.mit.edu 37 11 104815486 104815486 + Silent SNP G G T TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr11:104815486G>T ENST00000444739.2 - 8 2038 c.1128C>A c.(1126-1128)ggC>ggA p.G376G CASP4_ENST00000393150.3_Silent_p.G320G NM_001225.3 NP_001216.1 P49662 CASP4_HUMAN caspase 4, apoptosis-related cysteine peptidase 376 apoptosis|induction of apoptosis|proteolysis intracellular cysteine-type endopeptidase activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2) 23 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357) ATTTTCAATTGCCAGGAAAGA 0.383000 8 36 0.000978159 0.00105488 1 1 0 CLSTN3 9746 broad.mit.edu 37 12 7295599 7295599 + Missense_Mutation SNP G G A TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr12:7295599G>A ENST00000537408.1 + 10 2249 c.1711G>A c.(1711-1713)Gag>Aag p.E571K CLSTN3_ENST00000266546.6_Missense_Mutation_p.E559K Q9BQT9 CSTN3_HUMAN calsyntenin 3 559 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 TAGGGATTTCGAGAGCCTGGG 0.612000 15 32 0 0 1 0 0 TMCO3 55002 broad.mit.edu 37 13 114149982 114149982 + Missense_Mutation SNP C C T TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr13:114149982C>T ENST00000434316.2 + 2 445 c.86C>T c.(85-87)gCg>gTg p.A29V TMCO3_ENST00000375391.1_Missense_Mutation_p.A29V|TMCO3_ENST00000474393.1_3'UTR NM_017905.4 NP_060375.4 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 29 integral to membrane solute:hydrogen antiporter activity NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1) 25 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) GAGGAGGTGGCGCAGCGTGTG 0.647000 16 19 0 0 1 0 0 TVP23B 51030 broad.mit.edu 37 17 18692723 18692723 + Missense_Mutation SNP A A G TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr17:18692723A>G ENST00000307767.8 + 2 369 c.70A>G c.(70-72)Aat>Gat p.N24D TVP23B_ENST00000581733.1_5'UTR|TVP23B_ENST00000476139.1_5'UTR|TVP23B_ENST00000574226.1_Missense_Mutation_p.N24D NM_016078.4 NP_057162.4 trans-golgi network vesicle protein 23 homolog B (S. cerevisiae) GGAGACGACTAATAGACCAAG 0.413000 19 69 0 0 1 0 0 GOLGA6C 653641 broad.mit.edu 37 15 75562493 75562493 + Missense_Mutation SNP C C A TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr15:75562493C>A ENST00000300576.5 + 18 2035 c.2035C>A c.(2035-2037)Ccg>Acg p.P679T NM_001164404.1 NP_001157876.1 A6NDK9 GOG6C_HUMAN golgin A6 family, member C 679 ovary(1) 1 TGACAACCCCCCGGTACAGCA 0.602000 6 142 3.59834e-05 4.03895e-05 1 1 0 CUX2 23316 broad.mit.edu 37 12 111758084 111758084 + Silent SNP G G A TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr12:111758084G>A ENST00000261726.6 + 17 2425 c.2271G>A c.(2269-2271)gcG>gcA p.A757A NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 757 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 CCGCGCAGGCGCCGCTCCCGG 0.736000 3 14 0 0 1 0 0 HHIPL1 84439 broad.mit.edu 37 14 100123456 100123456 + Missense_Mutation SNP G G T TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr14:100123456G>T ENST00000330710.5 + 3 1120 c.1022G>T c.(1021-1023)gGg>gTg p.G341V HHIPL1_ENST00000357223.2_Missense_Mutation_p.G341V NM_001127258.1 NP_001120730.1 Q96JK4 HIPL1_HUMAN HHIP-like 1 341 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2) 15 Melanoma(154;0.128) GACCCCTTTGGGACATTTGGA 0.532000 68 169 1.7488e-33 2.04646e-33 1 1 0 ARHGEF1 0 broad.mit.edu 37 19 42396888 42396888 + Silent SNP G G A TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr19:42396888G>A ENST00000599846.1 + 7 707 c.582G>A c.(580-582)gcG>gcA p.A194A ARHGEF1_ENST00000337665.4_Silent_p.A209A|ARHGEF1_ENST00000347545.4_Silent_p.A161A|ARHGEF1_ENST00000354532.3_Silent_p.A194A|ARHGEF1_ENST00000378152.4_Silent_p.A176A Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 194 RGSL. cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) GGCACGTGGCGGAGCGGCTGC 0.706000 7 13 0 0 1 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58549469 58549469 + Missense_Mutation SNP G G A rs148253808 TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr19:58549469G>A ENST00000282326.1 + 3 512 c.265G>A c.(265-267)Gcg>Acg p.A89T ZSCAN1_ENST00000601162.1_Missense_Mutation_p.A89T|ZSCAN1_ENST00000391700.1_Missense_Mutation_p.A89T NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 89 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A89T(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GTTCCTGGGCGCGCTGCCCAG 0.692000 11 13 0 0 1 0 0 SLC26A4 5172 broad.mit.edu 37 7 107355878 107355878 + Missense_Mutation SNP C C G TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr7:107355878C>G ENST00000265715.3 + 21 2554 c.2330C>G c.(2329-2331)aCa>aGa p.T777R SLC26A4_ENST00000544569.1_Missense_Mutation_p.T364R|SLC26A4_ENST00000541474.1_Missense_Mutation_p.T338R|SLC26A4_ENST00000543100.1_Missense_Mutation_p.T346R NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 777 regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GCTATGCGTACACTTGCATCC 0.373000 Pendred syndrome 5 143 0 0 1 0 0 GOLGA6C 653641 broad.mit.edu 37 15 75562495 75562495 + Silent SNP G G T rs138154232 by1000genomes TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr15:75562495G>T ENST00000300576.5 + 18 2037 c.2037G>T c.(2035-2037)ccG>ccT p.P679P NM_001164404.1 NP_001157876.1 A6NDK9 GOG6C_HUMAN golgin A6 family, member C 679 ovary(1) 1 ACAACCCCCCGGTACAGCAGA 0.602000 6 144 0.0215528 0.0215528 1 1 0 KIFAP3 22920 broad.mit.edu 37 1 169985738 169985738 + Missense_Mutation SNP C C G TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr1:169985738C>G ENST00000367765.1 - 10 2429 c.928G>C c.(928-930)Gtg>Ctg p.V310L KIFAP3_ENST00000361580.2_Missense_Mutation_p.V350L|KIFAP3_ENST00000367767.1_Missense_Mutation_p.V306L|KIFAP3_ENST00000540905.1_Missense_Mutation_p.V52L|KIFAP3_ENST00000538366.1_Missense_Mutation_p.V272L NM_001204517.1 NP_001191446.1 Q92845 KIFA3_HUMAN kinesin-associated protein 3 350 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ATCATTTTCACCAGTTTTTCA 0.328000 7 106 0 0 1 0 0 SOWAHB 345079 broad.mit.edu 37 4 77817817 77817817 + Missense_Mutation SNP C C G TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr4:77817817C>G ENST00000334306.2 - 1 1185 c.1186G>C c.(1186-1188)Gac>Cac p.D396H NM_001029870.1 NP_001025041.1 A6NEL2 ANR56_HUMAN sosondowah ankyrin repeat domain family member B 396 TCCACAAAGTCATCCAGATCT 0.572000 35 70 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 124009064 124009064 + Missense_Mutation SNP A A G TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr10:124009064A>G ENST00000369005.1 + 22 9006 c.8666A>G c.(8665-8667)aAt>aGt p.N2889S TACC2_ENST00000368999.1_Missense_Mutation_p.N979S|TACC2_ENST00000360561.3_Missense_Mutation_p.N937S|TACC2_ENST00000515603.1_Missense_Mutation_p.N2767S|TACC2_ENST00000453444.2_Missense_Mutation_p.N2816S|TACC2_ENST00000369001.1_Missense_Mutation_p.N516S|TACC2_ENST00000358010.1_Missense_Mutation_p.N1035S|TACC2_ENST00000513429.1_Missense_Mutation_p.N1035S|TACC2_ENST00000334433.3_Missense_Mutation_p.N2889S|TACC2_ENST00000369004.3_Missense_Mutation_p.N949S|TACC2_ENST00000260733.3_Missense_Mutation_p.N967S|TACC2_ENST00000515273.1_Missense_Mutation_p.N2816S|TACC2_ENST00000369000.1_Missense_Mutation_p.N512S NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2889 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CGCAGGGCCAATGCTGAGATT 0.612000 13 13 0 0 1 0 0 PCDH19 57526 broad.mit.edu 37 X 99661865 99661865 + Missense_Mutation SNP T T C TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chrX:99661865T>C ENST00000373034.4 - 1 3406 c.1731A>G c.(1729-1731)atA>atG p.I577M PCDH19_ENST00000255531.7_Missense_Mutation_p.I577M|PCDH19_ENST00000420881.2_Missense_Mutation_p.I577M NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 577 Cadherin 6. 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 AGTTGCGGGGTATGTAGACCT 0.572000 4 87 0 0 1 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27998163 27998163 + Missense_Mutation SNP C C G TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chrX:27998163C>G ENST00000441525.1 - 1 1403 c.1289G>C c.(1288-1290)aGa>aCa p.R430T NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 430 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 CCCCTTATATCTCTTAACATA 0.458000 9 39 0 0 1 0 0 C4BPA 722 broad.mit.edu 37 1 207297295 207297295 + Missense_Mutation SNP C C T TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr1:207297295C>T ENST00000367070.3 + 5 651 c.457C>T c.(457-459)Cgt>Tgt p.R153C NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 153 Sushi 2. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 AACCACTAGTCGTTGTGAAGT 0.363000 4 39 0 0 1 0 0 RAI2 10742 broad.mit.edu 37 X 17819635 17819635 + Missense_Mutation SNP G G C TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chrX:17819635G>C ENST00000545871.1 - 3 956 c.496C>G c.(496-498)Ccc>Gcc p.P166A RAI2_ENST00000360011.1_Missense_Mutation_p.P166A|RAI2_ENST00000331511.1_Missense_Mutation_p.P166A|RAI2_ENST00000415486.3_Missense_Mutation_p.P116A|RAI2_ENST00000451717.1_Missense_Mutation_p.P166A NM_001172739.1|NM_001172743.1 NP_001166210.1|NP_001166214.1 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 166 embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) AGGAGCTGGGGCTGGGCCTCG 0.637000 4 76 0 0 1 0 0 CACNB3 784 broad.mit.edu 37 12 49219447 49219447 + Missense_Mutation SNP T T C TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr12:49219447T>C ENST00000301050.2 + 9 836 c.637T>C c.(637-639)Tcc>Ccc p.S213P CACNB3_ENST00000547392.1_Missense_Mutation_p.S186P|CACNB3_ENST00000536187.2_Missense_Mutation_p.S212P|CACNB3_ENST00000547230.1_Missense_Mutation_p.S172P|CACNB3_ENST00000540990.1_Missense_Mutation_p.S200P NM_000725.3 NP_000716.2 P54284 CACB3_HUMAN calcium channel, voltage-dependent, beta 3 subunit 213 axon guidance|membrane depolarization|synaptic transmission cytosol|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1) 12 Verapamil(DB00661) CCCCAGGATCTCCATCACCCG 0.562000 16 93 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167056037 167056037 + Frame_Shift_Del DEL T T - TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr2:167056037delT ENST00000375387.4 - 27 5455 c.5115delA c.(5113-5115)ctfs p.L1705fs AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Frame_Shift_Del_p.L1693fs|SCN9A_ENST00000409435.1_Frame_Shift_Del_p.L1704fs|SCN9A_ENST00000303354.6_Frame_Shift_Del_p.L1705fs Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1704 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) GAATAGGTGCTAGCAATCCAT 0.423 12 214 --- --- --- --- PBRM1 55193 broad.mit.edu 37 3 52610666 52610666 + Frame_Shift_Del DEL G G - TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr3:52610666delG ENST00000356770.4 - 21 3488 c.3486delC c.(3484-3486)ccfs p.P1162fs PBRM1_ENST00000410007.1_Frame_Shift_Del_p.P1169fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.P1169fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.P1209fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.P1194fs|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.P1194fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.P1209fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.P1194fs Q86U86 PB1_HUMAN polybromo 1 1194 BAH 2. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) GAATGAAGATGGGGCCATAAA 0.368 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 32 40 --- --- --- --- AC092661.1 0 broad.mit.edu 37 4 118496039 118496040 + RNA INS - - A TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr4:118496039_118496040insA ENST00000422145.3 + 0 159 NT5C3AP1_ENST00000441170.1_RNA TCTTTTTTTTTAATGGGTTAGA 0.342 4 3 --- --- --- --- RP11-1252I4.2 0 broad.mit.edu 37 5 177398373 177398396 + RNA DEL AGGACGAAGAGCTGGAGAGCGCCA AGGACGAAGAGCTGGAGAGCGCCA - rs70994948 TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA ENST00000511650.1 + 0 145 GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA 0.683 3 4 --- --- --- --- LTB 4050 broad.mit.edu 37 6 31548718 31548718 + Frame_Shift_Del DEL C C - TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr6:31548718delC ENST00000429299.2 - 4 510 c.503delG c.(502-504)gcfs p.G168fs LTB_ENST00000483972.1_5'UTR|LTB_ENST00000446745.2_3'UTR NM_002341.1 NP_002332.1 Q06643 TNFC_HUMAN lymphotoxin beta (TNF superfamily, member 3) 168 cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 9 Infliximab(DB00065)|Simvastatin(DB00641) CCCGTAGGCGCCCCCCGCCCG 0.751 2 4 --- --- --- --- C9orf3 84909 broad.mit.edu 37 9 97535395 97535397 + In_Frame_Del DEL TTT TTT - rs151071633 by1000genomes TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr9:97535395_97535397delTTT ENST00000375315.2 + 2 909_911 c.909_911delTTT c.(907-912)tct>tc p.SF303del C9orf3_ENST00000297979.5_In_Frame_Del_p.SF303del|C9orf3_ENST00000277198.2_In_Frame_Del_p.SF303del NM_001193329.1 NP_001180258.1 Q8N6M6 AMPO_HUMAN chromosome 9 open reading frame 3 303 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(323;0.000275) CAGCTGCATCTTTTGTTGTTTTA 0.463 71 84 --- --- --- --- MUC6 4588 broad.mit.edu 37 11 1031058 1031059 + Splice_Site INS - - G rs140721287 by1000genomes TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr11:1031058_1031059insG ENST00000421673.2 - 6 625 c.e6-2 NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGAACTTGCCTGGGGTGCAGAA 0.703 4 5 --- --- --- --- CCNT1 904 broad.mit.edu 37 12 49087434 49087436 + In_Frame_Del DEL ATG ATG - TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr12:49087434_49087436delATG ENST00000261900.3 - 9 1783_1785 c.1561_1563delCAT c.(1561-1563)del p.H521del NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 521 His-rich. cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 AGTGGTGATTATGATGATGATGA 0.443 10 404 --- --- --- --- SOGA2 23255 broad.mit.edu 37 18 8784233 8784243 + Frame_Shift_Del DEL CTGGGGCTGCG CTGGGGCTGCG - TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chr18:8784233_8784243delCTGGGGCTGCG ENST00000359865.3 + 6 1265_1275 c.1123_1133delCTGGGGCTGCG c.(1123-1134)tfs p.LGLR375fs SOGA2_ENST00000517570.1_Frame_Shift_Del_p.LGLR375fs|SOGA2_ENST00000400050.3_Frame_Shift_Del_p.LGLR375fs|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000306329.11_Frame_Shift_Del_p.LGLR735fs NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 726 GGCAGCCCACCTGGGGCTGCGTGCCCCCAGT 0.673 7 43 --- --- --- --- SRPX 8406 broad.mit.edu 37 X 38079976 38079978 + In_Frame_Del DEL GCA GCA - rs72445954 TCGA-E1-A7YQ-01A-11D-A34J-08 TCGA-E1-A7YQ-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a958293-774d-4cb9-ba11-59ac163cfd03 df861df9-ee5c-4f51-8f5b-cefb65965693 g.chrX:38079976_38079978delGCA ENST00000378533.3 - 1 174_176 c.68_70delTGC c.(67-72)cgc>c p.LR23del SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 23 Missing. cell adhesion cell surface|membrane p.L23delL(2) autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 GGCGGGACGCgcagcagcagcag 0.729 OREG0019726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 4 --- --- --- ---