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 MYO5A 4644 broad.mit.edu 37 15 52622589 52622589 + Nonsense_Mutation SNP T T A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr15:52622589T>A ENST00000399231.3 - 34 4684 c.4441A>T c.(4441-4443)Aag>Tag p.K1481* MYO5A_ENST00000553916.1_Nonsense_Mutation_p.K1479*|MYO5A_ENST00000399233.2_Nonsense_Mutation_p.K1478*|MYO5A_ENST00000358212.6_Nonsense_Mutation_p.K1506*|MYO5A_ENST00000356338.6_Nonsense_Mutation_p.K1454* NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 1481 actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) TCATCCTCCTTCTTGTATTCC 0.428000 28 141 0 0 1 0 0 CNGA4 1262 broad.mit.edu 37 11 6265487 6265487 + Missense_Mutation SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr11:6265487G>C ENST00000379936.2 + 6 1691 c.1576G>C c.(1576-1578)Gct>Cct p.A526P NM_001037329.3 NP_001032406.1 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 526 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTTAAGATTGCTTACCGCAT 0.592000 6 52 0 0 1 0 0 FAF1 11124 broad.mit.edu 37 1 51253830 51253830 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr1:51253830C>G ENST00000396153.2 - 4 660 c.209G>C c.(208-210)aGt>aCt p.S70T FAF1_ENST00000371778.4_Missense_Mutation_p.S70T NM_007051.2 NP_008982.1 Q9UNN5 FAF1_HUMAN Fas (TNFRSF6) associated factor 1 70 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity p.0?(3) breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) AGCTGGATGACTTGCTGGATT 0.423000 10 35 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296282 39296282 + Missense_Mutation SNP G G T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr17:39296282G>T ENST00000345847.4 - 1 457 c.458C>A c.(457-459)tCt>tAt p.S153Y NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 149 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 ttcacagcaagaggggcggca 0.662000 4 55 0.150653 0.15248 1 1 0 FRAS1 80144 broad.mit.edu 37 4 79362436 79362436 + Nonsense_Mutation SNP G G T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr4:79362436G>T ENST00000264895.6 + 41 6090 c.5650G>T c.(5650-5652)Gag>Tag p.E1884* FRAS1_ENST00000325942.6_Nonsense_Mutation_p.E1884* NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1883 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TGGCTGCATTGAGAACACAGG 0.453000 6 6 0.00116845 0.001235 1 1 0 FAM122C 159091 broad.mit.edu 37 X 133941655 133941655 + Silent SNP T T G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chrX:133941655T>G ENST00000414371.2 + 3 308 c.135T>G c.(133-135)ggT>ggG p.G45G FAM122C_ENST00000370785.3_Silent_p.G9G|FAM122C_ENST00000445123.1_5'UTR|FAM122C_ENST00000475361.1_3'UTR|FAM122C_ENST00000370784.4_Silent_p.G9G NM_001170780.1|NM_001170784.1 NP_001164251.1|NP_001164255.1 Q6P4D5 F222C_HUMAN family with sequence similarity 122C 9 endometrium(2)|kidney(1)|lung(2) 5 Acute lymphoblastic leukemia(192;0.000127) TGAAACTAGGTTTCAAGTCGC 0.522000 18 125 0 0 1 0 0 ADIPOR1 51094 broad.mit.edu 37 1 202912932 202912932 + Missense_Mutation SNP C C T rs145759019 TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr1:202912932C>T ENST00000367254.3 - 5 688 c.490G>A c.(490-492)Gca>Aca p.A164T ADIPOR1_ENST00000436244.1_Silent_p.A253A|ADIPOR1_ENST00000340990.5_Silent_p.A253A Q96A54 ADR1_HUMAN adiponectin receptor 1 0 fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(75;0.141) GGTCCCACTGCGCCACAATGA 0.537000 9 51 0 0 1 0 0 DIS3 22894 broad.mit.edu 37 13 73346337 73346337 + Missense_Mutation SNP T T G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr13:73346337T>G ENST00000377767.4 - 10 1563 c.1463A>C c.(1462-1464)gAt>gCt p.D488A DIS3_ENST00000545453.1_Missense_Mutation_p.D326A|DIS3_ENST00000377780.4_Missense_Mutation_p.D458A NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 488 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) ATGTAGAGCATCGTCTATATC 0.363000 Multiple Myeloma(4;0.011) 8 32 0 0 1 0 0 CCDC64 92558 broad.mit.edu 37 12 120510394 120510394 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr12:120510394C>T ENST00000397558.2 + 6 1169 c.1169C>T c.(1168-1170)tCa>tTa p.S390L CCDC64_ENST00000257583.4_Missense_Mutation_p.S39L|CCDC64_ENST00000446727.2_Intron NM_207311.2 NP_997194.2 Q6ZP65 BICR1_HUMAN coiled-coil domain containing 64 390 Golgi to secretory granule transport|neuron projection development centrosome dynactin binding|Rab GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGTGCTGACTCAGCCGTCTCC 0.567000 27 78 0 0 1 0 0 NEDD9 4739 broad.mit.edu 37 6 11190841 11190841 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr6:11190841C>G ENST00000379446.5 - 5 1427 c.1261G>C c.(1261-1263)Gag>Cag p.E421Q RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.E421Q NM_001271033.1|NM_006403.3 NP_001257962.1|NP_006394.1 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally down-regulated 9 421 actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) ACACCCATCTCAAGGGCCTGC 0.532000 10 54 0 0 1 0 0 SLC25A25 114789 broad.mit.edu 37 9 130868088 130868088 + Silent SNP C C A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr9:130868088C>A ENST00000373066.5 + 7 1229 c.822C>A c.(820-822)ctC>ctA p.L274L SLC25A25_ENST00000373064.5_Silent_p.L242L|SLC25A25_ENST00000373068.2_Silent_p.L276L|SLC25A25_ENST00000373069.5_Silent_p.L288L|SLC25A25_ENST00000432073.2_Silent_p.L262L|SLC25A25_ENST00000433501.1_Silent_p.L139L NM_001265614.2 NP_001252543.1 Q6KCM7 SCMC2_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 242 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3) 10 CCAGGTCACTCTGGCGGGGCA 0.577000 15 76 6.31663e-08 6.89462e-08 1 1 0 FRG1B 284802 broad.mit.edu 37 20 29625947 29625947 + Missense_Mutation SNP T T C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr20:29625947T>C ENST00000278882.3 + 5 571 c.191T>C c.(190-192)aTt>aCt p.I64T FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T p.I64T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCAGATGCAATTGGACCAAGA 0.343000 4 99 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133541671 133541671 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr2:133541671C>T ENST00000409261.1 - 14 3086 c.2713G>A c.(2713-2715)Gac>Aac p.D905N NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D905N|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 905 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TCTCCACTGTCACTAGACTCA 0.647000 26 53 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195508133 195508133 + Missense_Mutation SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr3:195508133G>A ENST00000463781.3 - 2 10777 c.10318C>T c.(10318-10320)Cct>Tct p.P3440S MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P3440S|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 209 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.P3440S(2) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACAGGAACAGGGGTGGCGTGA 0.592000 3 7 0 0 1 0 0 MCF2 4168 broad.mit.edu 37 X 138729002 138729002 + Missense_Mutation SNP C C A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chrX:138729002C>A ENST00000520602.1 - 3 371 c.86G>T c.(85-87)tGt>tTt p.C29F MCF2_ENST00000370578.4_Missense_Mutation_p.C114F|MCF2_ENST00000519895.1_Missense_Mutation_p.C29F|MCF2_ENST00000414978.1_Missense_Mutation_p.C29F P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 0 CRAL-TRIO. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) CTCTGGTATACATCTAAAATT 0.313000 5 14 0.0381472 0.0390834 1 1 0 KLHL20 27252 broad.mit.edu 37 1 173720961 173720961 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr1:173720961C>G ENST00000209884.4 + 4 792 c.656C>G c.(655-657)tCc>tGc p.S219C KLHL20_ENST00000546011.1_Missense_Mutation_p.S30C NM_014458.3 NP_055273.2 Q9Y2M5 KLH20_HUMAN kelch-like family member 20 219 BACK. cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1) 34 GATATAATATCCAGTGATGAG 0.403000 8 31 0 0 1 0 0 BTG1 694 broad.mit.edu 37 12 92538099 92538099 + Silent SNP A A G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr12:92538099A>G ENST00000256015.3 - 2 634 c.273T>C c.(271-273)agT>agC p.S91S NM_001731.2 NP_001722.1 P62324 BTG1_HUMAN B-cell translocation gene 1, anti-proliferative 91 cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|transcription cofactor activity haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2) 16 Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09) ACAGCTCCTGACTGCTCAGTC 0.507000 T MYC BCLL OREG0022024 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 86 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114268618 114268618 + Missense_Mutation SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr7:114268618G>A ENST00000393500.3 + 9 826 c.6G>A c.(4-6)atG>atA p.M2I FOXP2_ENST00000390668.3_Missense_Mutation_p.M118I|FOXP2_ENST00000350908.4_Missense_Mutation_p.M94I|FOXP2_ENST00000403559.4_Missense_Mutation_p.M94I|FOXP2_ENST00000459666.1_3'UTR|FOXP2_ENST00000393489.3_Missense_Mutation_p.M2I|FOXP2_ENST00000393494.2_Missense_Mutation_p.M94I|FOXP2_ENST00000408937.3_Missense_Mutation_p.M119I|FOXP2_ENST00000378237.3_Missense_Mutation_p.M94I|FOXP2_ENST00000360232.4_Missense_Mutation_p.M94I|FOXP2_ENST00000393498.2_Missense_Mutation_p.M94I|FOXP2_ENST00000393491.3_Missense_Mutation_p.M2I O15409 FOXP2_HUMAN forkhead box P2 94 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 TGGCCATGATGACTCCCCAGG 0.468000 10 162 0 0 1 0 0 NEFH 4744 broad.mit.edu 37 22 29885744 29885744 + Silent SNP T T C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr22:29885744T>C ENST00000310624.6 + 4 2148 c.2115T>C c.(2113-2115)ccT>ccC p.P705P NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 711 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 CAAAGTCCCCTGAGAAGGCCA 0.562000 5 120 0 0 1 0 0 API5 8539 broad.mit.edu 37 11 43333683 43333683 + Silent SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr11:43333683G>C ENST00000378852.3 + 1 131 c.6G>C c.(4-6)ccG>ccC p.P2P API5_ENST00000420461.2_Silent_p.P2P|API5_ENST00000534600.1_Silent_p.P2P|API5_ENST00000455725.2_5'UTR|API5_ENST00000531273.1_Silent_p.P2P|API5_ENST00000534695.1_Silent_p.P2P NM_001142930.1|NM_006595.3 NP_001136402.1|NP_006586.1 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 2 Not acetylated. anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 TCACCATGCCGACAGTAGAGG 0.647000 OREG0020900 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 25 0 0 1 0 0 ATP11A 23250 broad.mit.edu 37 13 113510301 113510301 + Missense_Mutation SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr13:113510301G>C ENST00000487903.1 + 20 2408 c.2320G>C c.(2320-2322)Gac>Cac p.D774H ATP11A_ENST00000283558.8_Missense_Mutation_p.D774H|ATP11A_ENST00000375630.2_Missense_Mutation_p.D774H|ATP11A_ENST00000375645.3_Missense_Mutation_p.D774H P98196 AT11A_HUMAN ATPase, class VI, type 11A 774 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) GCCTCGAGAAGACGGGAGTTC 0.542000 27 100 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578507 7578507 + Nonsense_Mutation SNP G G T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr17:7578507G>T ENST00000420246.2 - 5 555 c.423C>A c.(421-423)tgC>tgA p.C141* TP53_ENST00000445888.2_Nonsense_Mutation_p.C141*|TP53_ENST00000359597.4_Nonsense_Mutation_p.C141*|TP53_ENST00000269305.4_Nonsense_Mutation_p.C141*|TP53_ENST00000455263.2_Nonsense_Mutation_p.C141*|TP53_ENST00000413465.2_Nonsense_Mutation_p.C141* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 141 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). 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.C141W(13)|p.C141*(11)|p.0?(8)|p.A138_P142delAKTCP(4)|p.C141C(4)|p.N131fs*27(2)|p.P142fs*7(1)|p.L137_W146del10(1)|p.C141A(1)|p.C9W(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C141fs*5(1)|p.P142del(1)|p.C48W(1)|p.C141_P142insXX(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) GCTGCACAGGGCAGGTCTTGG 0.577000 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) 10 39 2.27111e-07 2.46283e-07 1 1 0 PCDH1 5097 broad.mit.edu 37 5 141244682 141244682 + Nonsense_Mutation SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr5:141244682G>C ENST00000287008.3 - 3 1361 c.1214C>G c.(1213-1215)tCa>tGa p.S405* PCDH1_ENST00000394536.3_Nonsense_Mutation_p.S405*|PCDH1_ENST00000536585.1_Nonsense_Mutation_p.S383*|PCDH1_ENST00000456271.1_Nonsense_Mutation_p.S393*|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 405 Cadherin 4. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) CACATCCTCTGAGATGTTAGC 0.557000 6 89 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 37 0 0 1 0 0 FHOD1 29109 broad.mit.edu 37 16 67267932 67267932 + Silent SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr16:67267932C>T ENST00000258201.4 - 13 1921 c.1674G>A c.(1672-1674)ctG>ctA p.L558L FHOD1_ENST00000567687.1_Silent_p.L137L NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 558 FH1. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) ACTCTACATTCAGCATGTCCT 0.617000 8 67 0 0 1 0 0 DCAF15 90379 broad.mit.edu 37 19 14070103 14070103 + Missense_Mutation SNP C C A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr19:14070103C>A ENST00000254337.6 + 7 1052 c.1031C>A c.(1030-1032)cCt>cAt p.P344H NM_138353.2 NP_612362.2 Q66K64 DCA15_HUMAN DDB1 and CUL4 associated factor 15 344 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1) 11 GAAGCCCGGCCTGCCCTGTGC 0.701000 3 25 0.00909568 0.00937641 1 1 0 MCCC1 56922 broad.mit.edu 37 3 182738007 182738007 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr3:182738007C>G ENST00000492597.1 - 16 2263 c.1561G>C c.(1561-1563)Gac>Cac p.D521H MCCC1_ENST00000265594.4_Missense_Mutation_p.D630H|MCCC1_ENST00000539926.1_3'UTR Q96RQ3 MCCA_HUMAN methylcrotonoyl-CoA carboxylase 1 (alpha) 630 biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2) 40 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) ACTGGAATGTCAATCTCAATA 0.378000 6 46 0 0 1 0 0 PHLDA1 22822 broad.mit.edu 37 12 76425191 76425191 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr12:76425191C>G ENST00000266671.5 - 1 2521 c.331G>C c.(331-333)Gag>Cag p.E111Q PHLDA1_ENST00000602540.1_5'UTR Q8WV24 PHLA1_HUMAN pleckstrin homology-like domain, family A, member 1 111 apoptosis cytoplasmic vesicle membrane|nucleolus|plasma membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 14 Colorectal(145;0.09) GCGCCGTCCTCGCCCCAGCGG 0.756000 4 4 0 0 1 0 0 SLC14A2 8170 broad.mit.edu 37 18 43216966 43216966 + Missense_Mutation SNP C C A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr18:43216966C>A ENST00000255226.6 + 6 1478 c.662C>A c.(661-663)tCt>tAt p.S221Y SLC14A2_ENST00000586448.1_Missense_Mutation_p.S221Y NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 221 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCAGTTCTTTCTAGTGCCTTG 0.517000 42 155 6.4308e-24 7.35578e-24 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168105622 168105622 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr2:168105622C>G ENST00000409195.1 + 9 7809 c.7720C>G c.(7720-7722)Caa>Gaa p.Q2574E XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q2574E|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q2352E|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2399 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TGTTAAAACTCAAAGCCAAAA 0.333000 15 54 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53636079 53636079 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr16:53636079C>T ENST00000262135.4 - 25 3710 c.3617G>A c.(3616-3618)gGt>gAt p.G1206D RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.G1252D|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.G1286D NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 1286 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) AATACCTTCACCATCTGCTCG 0.443000 14 38 0 0 1 0 0 JADE1 79960 broad.mit.edu 37 4 129793167 129793167 + Missense_Mutation SNP A A T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr4:129793167A>T ENST00000226319.6 + 11 2559 c.2279A>T c.(2278-2280)cAg>cTg p.Q760L PHF17_ENST00000452328.2_Missense_Mutation_p.Q748L|PHF17_ENST00000512960.1_Missense_Mutation_p.Q760L NM_199320.2 NP_955352.1 Q6IE81 JADE1_HUMAN 760 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 GGGGAACGGCAGCAGCAGGGA 0.532000 3 24 0 0 1 0 0 SEPT5 5413 broad.mit.edu 37 22 19709227 19709227 + Missense_Mutation SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr22:19709227G>A ENST00000438754.2 + 8 1089 c.809G>A c.(808-810)cGg>cAg p.R270Q SEPT5_ENST00000455784.2_Missense_Mutation_p.R261Q|SEPT5_ENST00000383045.3_Missense_Mutation_p.R270Q|SEPT5_ENST00000406395.1_Missense_Mutation_p.R261Q NM_001009939.2 NP_001009939.1 Q99719 SEPT5_HUMAN septin 5 261 cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting plasma membrane|septin complex|synaptic vesicle GTP binding|GTPase activity|protein binding|structural molecule activity lung(1)|upper_aerodigestive_tract(1) 2 Colorectal(54;0.0993) CAGCGGGTCCGGGGCCGACTG 0.677000 27 82 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46298746 46298746 + Nonsense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr12:46298746C>G ENST00000334344.6 + 21 5565 c.5393C>G c.(5392-5394)tCa>tGa p.S1798* ARID2_ENST00000444670.1_Nonsense_Mutation_p.S1408*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1798 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AATAACTTATCAGTGCTAGCC 0.358000 """N, S, F""" hepatocellular carcinoma 6 34 0 0 1 0 0 PHLDA1 22822 broad.mit.edu 37 12 76424750 76424750 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr12:76424750C>G ENST00000266671.5 - 1 2962 c.772G>C c.(772-774)Gag>Cag p.E258Q RP11-290L1.3_ENST00000552367.1_RNA|PHLDA1_ENST00000602540.1_Missense_Mutation_p.E117Q Q8WV24 PHLA1_HUMAN pleckstrin homology-like domain, family A, member 1 258 PH. apoptosis cytoplasmic vesicle membrane|nucleolus|plasma membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 14 Colorectal(145;0.09) TCCTTGCCCTCTGCCATCACC 0.577000 8 33 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 37 0 0 1 0 0 BOC 91653 broad.mit.edu 37 3 112991470 112991470 + Nonsense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr3:112991470C>G ENST00000495514.1 + 7 1585 c.881C>G c.(880-882)tCa>tGa p.S294* BOC_ENST00000355385.3_Nonsense_Mutation_p.S294*|BOC_ENST00000273395.4_Nonsense_Mutation_p.S294* Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 294 Ig-like C2-type 3. cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) GAGGAGGACTCAGGCACCTAC 0.617000 15 46 0 0 1 0 0 TTC7B 145567 broad.mit.edu 37 14 91161916 91161916 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr14:91161916C>G ENST00000357056.2 - 6 826 c.705G>C c.(703-705)ttG>ttC p.L235F TTC7B_ENST00000328459.6_Missense_Mutation_p.L235F Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 235 binding NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 36 Melanoma(154;0.222) CTCCTCTTGTCAAGTTCCTGT 0.383000 6 34 0 0 1 0 0 LRIG2 9860 broad.mit.edu 37 1 113637318 113637318 + Silent SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr1:113637318G>C ENST00000361127.4 + 6 942 c.744G>C c.(742-744)cgG>cgC p.R248R NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 248 cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) AAATGCAGCGGAATGGAATTA 0.358000 15 92 0 0 1 0 0 QTRT1 81890 broad.mit.edu 37 19 10823678 10823678 + Missense_Mutation SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr19:10823678G>A ENST00000250237.5 + 9 1031 c.1021G>A c.(1021-1023)Gcg>Acg p.A341T NM_031209.2 NP_112486.1 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 341 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) CAACACGGCCGCGCTGCACCA 0.682000 7 23 0 0 1 0 0 MCM5 4174 broad.mit.edu 37 22 35817407 35817407 + Silent SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr22:35817407C>T ENST00000216122.4 + 15 2083 c.1929C>T c.(1927-1929)ctC>ctT p.L643L MCM5_ENST00000382011.5_Silent_p.L600L NM_006739.3 NP_006730.2 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 643 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 CCCTGCGGCTCTTCCAAGTGT 0.612000 46 121 0 0 1 0 0 MLH1 4292 broad.mit.edu 37 3 37081768 37081768 + Silent SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr3:37081768C>G ENST00000231790.2 + 14 1866 c.1650C>G c.(1648-1650)ctC>ctG p.L550L MLH1_ENST00000455445.2_Silent_p.L309L|MLH1_ENST00000435176.1_Silent_p.L452L|MLH1_ENST00000536378.1_Silent_p.L309L|MLH1_ENST00000458205.2_Silent_p.L309L|MLH1_ENST00000539477.1_Silent_p.L309L NM_000249.3|NM_001258273.1 NP_000240.1|NP_001245202.1 P40692 MLH1_HUMAN mutL homolog 1 550 Interaction with EXO1. L -> P (in HNPCC2). mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding p.0?(1) NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 127 TATACCTTCTCAACACCACCA 0.498000 1 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian, CNS""" """colorectal, endometrial, ovarian, CNS""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 13 51 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154197823 154197823 + Silent SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chrX:154197823C>G ENST00000360256.4 - 7 992 c.792G>C c.(790-792)ctG>ctC p.L264L NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 264 F5/8 type A 1.|Plastocyanin-like 2. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GGCATCCAATCAGACCTGTAA 0.418000 27 67 0 0 1 0 0 FBXO41 150726 broad.mit.edu 37 2 73493698 73493698 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr2:73493698C>T ENST00000521871.1 - 3 1433 c.1018G>A c.(1018-1020)Gag>Aag p.E340K FBXO41_ENST00000295133.5_Missense_Mutation_p.E401K|FBXO41_ENST00000520530.2_Missense_Mutation_p.E340K Q8TF61 FBX41_HUMAN F-box protein 41 340 intracellular protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1) 13 AGCTGCCGCTCGGCACGGTCA 0.701000 4 26 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). 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 plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 19 16 7.88262e-20 8.89458e-20 1 1 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240729 39240729 + Missense_Mutation SNP A A G rs148949542 by1000genomes TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr17:39240729A>G ENST00000391417.4 + 1 271 c.271A>G c.(271-273)Atg>Gtg p.M91V NM_033061.3 NP_149050.3 keratin associated protein 4-7 NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 cagctgctgtatgtccagctg 0.677000 3 65 0 0 1 0 0 KRTAP4-4 84616 broad.mit.edu 37 17 39316759 39316759 + Missense_Mutation SNP T T C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr17:39316759T>C ENST00000390661.3 - 1 224 c.185A>G c.(184-186)cAc>cGc p.H62R NM_032524.1 NP_115913.1 Q9BYR3 KRA44_HUMAN keratin associated protein 4-4 62 26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR]. Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1). keratin filament kidney(1)|large_intestine(1)|lung(5) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GCAGCTGGGGTGGCAGCAGGT 0.662000 4 112 0 0 1 0 0 CRAMP1L 57585 broad.mit.edu 37 16 1705274 1705274 + Missense_Mutation SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr16:1705274G>C ENST00000397412.3 + 9 1191 c.1092G>C c.(1090-1092)caG>caC p.Q364H CRAMP1L_ENST00000436138.3_Missense_Mutation_p.Q361H|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.Q364H|LA16c-431H6.6_ENST00000454337.1_3'UTR Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 364 nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 TCTTGAAGCAGAAGTGGGCGC 0.552000 32 32 0 0 1 0 0 SERPINF2 5345 broad.mit.edu 37 17 1657465 1657465 + Missense_Mutation SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr17:1657465G>C ENST00000324015.3 + 10 1190 c.1113G>C c.(1111-1113)caG>caC p.Q371H SERPINF2_ENST00000450523.2_Missense_Mutation_p.Q307H|SERPINF2_ENST00000382061.4_Missense_Mutation_p.Q371H NM_000934.3 NP_000925.2 P08697 A2AP_HUMAN serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 371 acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) Streptokinase(DB00086) TCTCCGAGCAGAGCCTGGTGG 0.677000 11 76 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3179079 3179079 + Missense_Mutation SNP G G T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr4:3179079G>T ENST00000355072.5 + 34 4573 c.4428G>T c.(4426-4428)ttG>ttT p.L1476F NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 1476 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GCTTTGTATTGAAACAGTTTG 0.299000 8 18 3.86212e-05 4.16112e-05 1 1 0 RHOBTB3 22836 broad.mit.edu 37 5 95099311 95099311 + Missense_Mutation SNP A A G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr5:95099311A>G ENST00000379982.3 + 7 1656 c.1148A>G c.(1147-1149)aAa>aGa p.K383R GLRX_ENST00000508780.1_Intron NM_014899.3 NP_055714.3 O94955 RHBT3_HUMAN Rho-related BTB domain containing 3 383 retrograde transport, endosome to Golgi Golgi apparatus ATP binding|ATPase activity|Rab GTPase binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1) 16 all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.79e-16) TGCATTTTAAAAACACCAGGA 0.328000 8 38 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62169209 62169209 + Missense_Mutation SNP T T G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr15:62169209T>G ENST00000261517.5 - 75 10260 c.10187A>C c.(10186-10188)cAg>cCg p.Q3396P VPS13C_ENST00000395896.4_Missense_Mutation_p.Q3396P|VPS13C_ENST00000395898.3_Missense_Mutation_p.Q3353P|VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000249837.3_Missense_Mutation_p.Q3353P NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 3396 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 CCATATAAGCTGATCTCTCTT 0.294000 10 97 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60907449 60907449 + Silent SNP G G A rs142357165 TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr20:60907449G>A ENST00000252999.3 - 28 3597 c.3531C>T c.(3529-3531)gcC>gcT p.A1177A NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1177 Domain IV 1 (domain IV B). angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTGCCTGTTCGGCTGTGAGCC 0.627000 9 109 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36189162 36189162 + Missense_Mutation SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr4:36189162G>C ENST00000303965.4 - 8 2078 c.1589C>G c.(1588-1590)tCt>tGt p.S530C NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 530 PH 1. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TGATATAGCAGAAAGGGGAAT 0.308000 16 34 0 0 1 0 0 NTNG2 84628 broad.mit.edu 37 9 135073778 135073778 + Silent SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr9:135073778C>T ENST00000393229.3 + 3 1415 c.639C>T c.(637-639)ttC>ttT p.F213F NTNG2_ENST00000360670.3_Silent_p.F213F|NTNG2_ENST00000393228.4_Silent_p.F213F|NTNG2_ENST00000372179.3_Silent_p.F213F NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 213 Laminin N-terminal. axonogenesis anchored to plasma membrane central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) ACGTGCGCTTCGAGGTGCGGG 0.667000 9 37 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 167023506 167023506 + Missense_Mutation SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr3:167023506G>C ENST00000392766.2 - 17 1990 c.1650C>G c.(1648-1650)atC>atG p.I550M ZBBX_ENST00000455345.2_Missense_Mutation_p.I550M|ZBBX_ENST00000392764.1_Missense_Mutation_p.I521M|ZBBX_ENST00000307529.5_Missense_Mutation_p.I550M|ZBBX_ENST00000392767.2_Missense_Mutation_p.I550M NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 550 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 AGGATTCTTTGATGTCTTGAG 0.343000 16 31 0 0 1 0 0 MRPL4 51073 broad.mit.edu 37 19 10369342 10369342 + Silent SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr19:10369342C>T ENST00000393733.2 + 8 747 c.720C>T c.(718-720)ttC>ttT p.F240F CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000307422.5_Silent_p.F240F|MRPL4_ENST00000590669.1_Silent_p.F240F|MRPL4_ENST00000253099.6_Silent_p.F240F Q9BYD3 RM04_HUMAN mitochondrial ribosomal protein L4 240 translation mitochondrion|ribosome structural constituent of ribosome breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 Renal(1328;0.0112) OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06) Lung(535;0.00705) TTAAGACCTTCAACTTGATCC 0.567000 10 82 0 0 1 0 0 ART3 419 broad.mit.edu 37 4 76997033 76997033 + Splice_Site SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr4:76997033G>C ENST00000355810.4 + 2 110 c.e2-1 ART3_ENST00000513494.1_Splice_Site|ART3_ENST00000341029.5_Splice_Site|ART3_ENST00000349321.3_Splice_Site NM_001130016.2 NP_001123488.1 Q13508 NAR3_HUMAN ADP-ribosyltransferase 3 protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1) 16 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TTTTAATTTAGAAGAGAAAAA 0.358000 4 55 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186120395 186120395 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr1:186120395C>T ENST00000271588.4 + 94 14901 c.14672C>T c.(14671-14673)gCt>gTt p.A4891V HMCN1_ENST00000367492.2_Missense_Mutation_p.A4891V NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4891 Nidogen G2 beta-barrel. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TTTGGAATTGCTTTCCTTAAT 0.398000 16 81 0 0 1 0 0 DNAJC21 134218 broad.mit.edu 37 5 34954703 34954703 + Missense_Mutation SNP C C T rs141076061 TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr5:34954703C>T ENST00000382021.2 + 13 1842 c.1615C>T c.(1615-1617)Cgg>Tgg p.R539W DNAJC21_ENST00000303525.7_Missense_Mutation_p.R507W|DNAJC21_ENST00000342382.4_Missense_Mutation_p.R494W NM_194283.3 NP_919259.3 Q5F1R6 DJC21_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 21 494 protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) ATTTCCATCTCGGAATAAACT 0.388000 11 132 0 0 1 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1853768 1853768 + Missense_Mutation SNP G G T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr8:1853768G>T ENST00000518288.1 + 18 2088 c.1925G>T c.(1924-1926)cGa>cTa p.R642L ARHGEF10_ENST00000520359.1_Missense_Mutation_p.R580L|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.R643L|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.R643L|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.R618L O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 643 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) TACCTCATTCGATCAGATGAT 0.428000 4 92 1 1 1 1 0 TARBP1 6894 broad.mit.edu 37 1 234566017 234566017 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr1:234566017C>G ENST00000040877.1 - 15 2424 c.2425G>C c.(2425-2427)Gta>Cta p.V809L NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 809 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) ATGCTCACTACTCTCTGAATC 0.483000 9 44 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30490717 30490717 + Missense_Mutation SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr16:30490717G>A ENST00000356798.6 + 6 691 c.511G>A c.(511-513)Gaa>Aaa p.E171K ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000454514.2_Intron|ITGAL_ENST00000358164.5_Intron|RP11-297C4.2_ENST00000569459.1_RNA NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 171 VWFA. blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GCAGCCAGATGAATTTCAGAA 0.438000 5 41 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124402690 124402690 + Missense_Mutation SNP G G T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr10:124402690G>T ENST00000368909.3 + 53 7124 c.7018G>T c.(7018-7020)Gcc>Tcc p.A2340S DMBT1_ENST00000368956.2_Missense_Mutation_p.A1712S|DMBT1_ENST00000359586.6_Missense_Mutation_p.A1060S|DMBT1_ENST00000330163.4_Missense_Mutation_p.A1712S|DMBT1_ENST00000338354.3_Missense_Mutation_p.A2340S|DMBT1_ENST00000344338.3_Missense_Mutation_p.A2330S|DMBT1_ENST00000368955.3_Missense_Mutation_p.A2330S NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2340 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TCTTCGCATTGCCCGCTTCCG 0.577000 21 71 1.96292e-10 2.18539e-10 1 1 0 NUP98 4928 broad.mit.edu 37 11 3800193 3800193 + Missense_Mutation SNP T T C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr11:3800193T>C ENST00000324932.7 - 4 685 c.265A>G c.(265-267)Aat>Gat p.N89D NUP98_ENST00000355260.3_Missense_Mutation_p.N89D|NUP98_ENST00000397007.4_Missense_Mutation_p.N89D|NUP98_ENST00000397004.4_Missense_Mutation_p.N89D|NUP98_ENST00000359171.4_Missense_Mutation_p.N89D NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 89 Gly/Thr-rich. carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) AACAAGGTATTTGCTGTTCCT 0.478000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 6 70 0 0 1 0 0 MAP4K1 11184 broad.mit.edu 37 19 39103253 39103253 + Silent SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr19:39103253G>A ENST00000591517.1 - 9 691 c.663C>T c.(661-663)ctC>ctT p.L221L MAP4K1_ENST00000396857.2_Silent_p.L221L|MAP4K1_ENST00000586296.1_Silent_p.L221L|MAP4K1_ENST00000589130.1_Silent_p.L217L|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000423454.2_5'UTR NM_007181.4 NP_009112.1 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase kinase 1 221 Protein kinase. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CTGCCTACCTGAGAGGGTGCA 0.607000 13 29 0 0 1 0 0 ANKEF1 63926 broad.mit.edu 37 20 10030698 10030698 + Nonsense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr20:10030698C>G ENST00000378380.3 + 6 1810 c.1481C>G c.(1480-1482)tCa>tGa p.S494* SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Nonsense_Mutation_p.S494* NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 AAGGTATTTTCAAACATTAAT 0.383000 10 100 0 0 1 0 0 MTSS1 9788 broad.mit.edu 37 8 125577908 125577908 + Silent SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr8:125577908G>C ENST00000518547.1 - 9 1292 c.819C>G c.(817-819)gtC>gtG p.V273V MTSS1_ENST00000395508.2_Silent_p.V7V|MTSS1_ENST00000524090.1_Silent_p.V163V|MTSS1_ENST00000378017.3_Silent_p.V273V|MTSS1_ENST00000325064.5_Silent_p.V277V|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000354184.4_Silent_p.V73V|MTSS1_ENST00000431961.2_Silent_p.V73V NM_014751.4 NP_055566.3 O43312 MTSS1_HUMAN metastasis suppressor 1 273 Ser-rich. actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CTCACCTGCAGACACTGGACT 0.507000 13 39 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61484020 61484020 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr2:61484020C>T ENST00000398571.2 - 47 6190 c.6114G>A c.(6112-6114)atG>atA p.M2038I NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 2038 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) AAATGTTCTTCATATCAGCCA 0.299000 5 48 0 0 1 0 0 BCL7C 9274 broad.mit.edu 37 16 30905233 30905233 + Silent SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr16:30905233C>T ENST00000380317.4 - 1 390 c.33G>A c.(31-33)cgG>cgA p.R11R BCL7C_ENST00000215115.4_Silent_p.R11R|MIR4519_ENST00000570025.1_RNA|AC106782.20_ENST00000572471.1_RNA|MIR4519_ENST00000564901.1_RNA|MIR762_ENST00000390236.1_RNA|MIR4519_ENST00000565573.1_RNA Q8WUZ0 BCL7C_HUMAN B-cell CLL/lymphoma 7C 11 apoptosis large_intestine(1)|lung(3)|prostate(1)|skin(1) 6 Colorectal(24;0.198) TGGCCCGGCTCCGGGTCTCGG 0.746000 5 57 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120613633 120613633 + Missense_Mutation SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr12:120613633G>C ENST00000300648.6 - 11 970 c.958C>G c.(958-960)Ctg>Gtg p.L320V NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 320 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) CGCAGTGCCAGCACAGCTTCA 0.552000 7 30 0 0 1 0 0 MAD1L1 8379 broad.mit.edu 37 7 1997277 1997277 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr7:1997277C>T ENST00000406869.1 - 16 2140 c.1583G>A c.(1582-1584)cGg>cAg p.R528Q MAD1L1_ENST00000402746.1_Missense_Mutation_p.R436Q|MAD1L1_ENST00000265854.7_Missense_Mutation_p.R528Q|MAD1L1_ENST00000399654.2_Missense_Mutation_p.R528Q Q9Y6D9 MD1L1_HUMAN MAD1 mitotic arrest deficient-like 1 (yeast) 528 Necessary for interaction with NEK2. cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5) 36 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) CAGAGCTCGCCGCTCCAGCTG 0.637000 14 96 0 0 1 0 0 CSRP2BP 57325 broad.mit.edu 37 20 18142502 18142502 + Missense_Mutation SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr20:18142502G>C ENST00000278816.2 + 6 1371 c.721G>C c.(721-723)Gag>Cag p.E241Q CSRP2BP_ENST00000435364.2_Missense_Mutation_p.E241Q|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.E240Q|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.E113Q Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 241 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 CATTACTGTTGAGGGACTTAG 0.418000 20 85 0 0 1 0 0 CCDC73 493860 broad.mit.edu 37 11 32635535 32635535 + Missense_Mutation SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr11:32635535G>C ENST00000335185.5 - 16 2372 c.2329C>G c.(2329-2331)Ctt>Gtt p.L777V NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 777 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) TTAAGATGAAGATGGGAAATG 0.328000 9 38 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43846118 43846118 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr12:43846118C>T ENST00000389420.3 - 14 2037 c.2038G>A c.(2038-2040)Gga>Aga p.G680R ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G680R NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 680 Cys-rich. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GTTTCAGTTCCACAAGGAGTA 0.343000 24 37 0 0 1 0 0 NUP188 23511 broad.mit.edu 37 9 131721149 131721149 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr9:131721149C>G ENST00000372577.2 + 7 462 c.441C>G c.(439-441)ttC>ttG p.F147L NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 147 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 TCACTTACTTCCAAGATGAAA 0.313000 3 28 0 0 1 0 0 USP8 9101 broad.mit.edu 37 15 50769116 50769116 + Missense_Mutation SNP G G T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr15:50769116G>T ENST00000433963.1 + 10 1420 c.920G>T c.(919-921)tGt>tTt p.C307F USP8_ENST00000425032.3_Missense_Mutation_p.C230F|USP8_ENST00000396444.3_Missense_Mutation_p.C307F|USP8_ENST00000307179.4_Missense_Mutation_p.C307F NM_001128611.1 NP_001122083.1 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 307 Rhodanese. cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) TGGCTCCTTTGTTATCCCCAG 0.388000 16 63 1.33834e-09 1.48015e-09 1 1 0 MYH13 8735 broad.mit.edu 37 17 10248849 10248849 + Missense_Mutation SNP C C A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr17:10248849C>A ENST00000418404.3 - 13 1511 c.1348G>T c.(1348-1350)Gac>Tac p.D450Y MYH13_ENST00000570743.1_Missense_Mutation_p.D450Y|MYH13_ENST00000252172.4_Missense_Mutation_p.D450Y Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 450 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TGCTTGGTGTCCAGCTGCTGG 0.512000 45 93 5.39261e-20 6.1263e-20 1 1 0 MTMR1 8776 broad.mit.edu 37 X 149901147 149901147 + Nonsense_Mutation SNP C C A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chrX:149901147C>A ENST00000445323.2 + 10 1146 c.1025C>A c.(1024-1026)tCa>tAa p.S342* MTMR1_ENST00000538506.1_Nonsense_Mutation_p.S221*|MTMR1_ENST00000544228.1_Nonsense_Mutation_p.S334*|MTMR1_ENST00000542156.1_Nonsense_Mutation_p.S334*|MTMR1_ENST00000451863.2_Nonsense_Mutation_p.S334*|MTMR1_ENST00000370390.3_Nonsense_Mutation_p.S334*|MTMR1_ENST00000541925.1_Nonsense_Mutation_p.S240* Q13613 MTMR1_HUMAN myotubularin related protein 1 334 Myotubularin phosphatase. plasma membrane protein tyrosine phosphatase activity p.S334*(1) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) AACGCACAGTCACACAAGCTT 0.423000 9 54 4.68919e-08 5.15194e-08 1 1 0 SHPRH 257218 broad.mit.edu 37 6 146276084 146276084 + Silent SNP A A T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr6:146276084A>T ENST00000367503.3 - 2 773 c.375T>A c.(373-375)ccT>ccA p.P125P SHPRH_ENST00000275233.7_Silent_p.P125P|SHPRH_ENST00000438092.2_Silent_p.P125P|SHPRH_ENST00000367505.2_Silent_p.P125P NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 125 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) AACTCTGTGCAGGAAGAAGCT 0.338000 11 24 0 0 1 0 0 UGGT1 56886 broad.mit.edu 37 2 128870740 128870740 + Missense_Mutation SNP A A T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr2:128870740A>T ENST00000375990.3 + 6 935 c.532A>T c.(532-534)Att>Ttt p.I178F UGGT1_ENST00000259253.6_Missense_Mutation_p.I202F Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 202 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 CTACTCTGAGATTGGCTCTGA 0.343000 27 63 0 0 1 0 0 STRADA 92335 broad.mit.edu 37 17 61781922 61781922 + Silent SNP G G A rs147552949 TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr17:61781922G>A ENST00000392950.4 - 9 1041 c.768C>T c.(766-768)aaC>aaT p.N256N STRADA_ENST00000582137.1_Silent_p.N264N|STRADA_ENST00000447001.3_Silent_p.N249N|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000336174.6_Silent_p.N293N|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000375840.4_Silent_p.N235N|STRADA_ENST00000579340.1_3'UTR NM_001003786.2|NM_001165969.1|NM_153335.5 NP_001003786.1|NP_001159441.1|NP_699166.2 Q7RTN6 STRAA_HUMAN STE20-related kinase adaptor alpha 293 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|kinase binding|protein kinase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2) 13 GCACTGTGCCGTTCAGTTTCT 0.632000 21 74 0 0 1 0 0 HDLBP 3069 broad.mit.edu 37 2 242187753 242187753 + Missense_Mutation SNP C C A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr2:242187753C>A ENST00000391975.1 - 13 1750 c.1523G>T c.(1522-1524)cGt>cTt p.R508L HDLBP_ENST00000476807.1_5'UTR|HDLBP_ENST00000391976.2_Missense_Mutation_p.R508L|HDLBP_ENST00000310931.4_Missense_Mutation_p.R508L|HDLBP_ENST00000427183.2_Missense_Mutation_p.R475L NM_203346.3 NP_976221.1 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 508 KH 5. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding p.R508H(1) breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) ATCCTTGGTACGCTCATTTTC 0.458000 24 72 2.44723e-14 2.74287e-14 1 1 0 MAATS1 89876 broad.mit.edu 37 3 119434438 119434438 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr3:119434438C>T ENST00000273390.5 + 6 607 c.530C>T c.(529-531)tCt>tTt p.S177F MAATS1_ENST00000463700.1_Missense_Mutation_p.S177F NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 CCTCCTACTTCTACTAAGCAC 0.368000 37 175 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30732535 30732535 + Silent SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr16:30732535G>A ENST00000262518.4 + 21 3664 c.3279G>A c.(3277-3279)ctG>ctA p.L1093L SRCAP_ENST00000395059.2_Silent_p.L1093L|SRCAP_ENST00000344771.4_Intron NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1093 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) TGGGGGTCCTGAGTGGGACCT 0.602000 21 107 0 0 1 0 0 GAL3ST2 64090 broad.mit.edu 37 2 242741340 242741340 + Silent SNP A A G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr2:242741340A>G ENST00000192314.6 + 3 395 c.264A>G c.(262-264)tcA>tcG p.S88S NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 88 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) CCGCCGGCTCACGCGTCCACC 0.642000 7 78 0 0 1 0 0 ZC3H14 79882 broad.mit.edu 37 14 89077222 89077222 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr14:89077222C>G ENST00000251038.5 + 16 2367 c.2142C>G c.(2140-2142)ttC>ttG p.F714L ZC3H14_ENST00000557607.1_Missense_Mutation_p.F398L|ZC3H14_ENST00000556945.1_Missense_Mutation_p.F583L|ZC3H14_ENST00000406216.3_Missense_Mutation_p.F260L|ZC3H14_ENST00000393514.5_Missense_Mutation_p.F689L|ZC3H14_ENST00000359301.3_Missense_Mutation_p.F549L|ZC3H14_ENST00000336693.4_Missense_Mutation_p.F549L|ZC3H14_ENST00000318308.6_Missense_Mutation_p.F284L|ZC3H14_ENST00000302216.8_Missense_Mutation_p.F557L|ZC3H14_ENST00000555900.1_Missense_Mutation_p.F416L|ZC3H14_ENST00000555755.1_Missense_Mutation_p.F708L NM_001160103.1|NM_001160104.1|NM_024824.4 NP_001153575.1|NP_001153576.1|NP_079100.2 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 714 cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 ACTGCACATTCTACCATCCCA 0.393000 20 84 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121652803 121652803 + Missense_Mutation SNP A A G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr7:121652803A>G ENST00000393386.2 + 12 4114 c.3703A>G c.(3703-3705)Atg>Gtg p.M1235V PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1235 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity p.M1235V(2) NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 AAGTGAAAACATGCTGCACTC 0.393000 9 130 0 0 1 0 0 B4GALNT1 2583 broad.mit.edu 37 12 58023955 58023955 + Missense_Mutation SNP T T A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr12:58023955T>A ENST00000341156.4 - 6 1276 c.692A>T c.(691-693)cAg>cTg p.Q231L B4GALNT1_ENST00000550764.1_Missense_Mutation_p.Q231L|B4GALNT1_ENST00000449184.3_Missense_Mutation_p.Q231L|B4GALNT1_ENST00000552350.1_Missense_Mutation_p.Q231L|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.Q176L NM_001478.3 NP_001469.1 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 231 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) TGTGTTGGTCTGGTAGCTTCG 0.577000 7 86 0 0 1 0 0 ROCK1 6093 broad.mit.edu 37 18 18586533 18586533 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr18:18586533C>G ENST00000399799.1 - 16 2604 c.1664G>C c.(1663-1665)aGg>aCg p.R555T NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 555 Interaction with FHOD1. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) CGATTCTGTCCTAAGTAAGTC 0.348000 12 45 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38154137 38154137 + Missense_Mutation SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr22:38154137G>C ENST00000406386.3 + 16 6460 c.6205G>C c.(6205-6207)Gag>Cag p.E2069Q TRIOBP_ENST00000403663.2_Missense_Mutation_p.E356Q|RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000407319.2_Missense_Mutation_p.E356Q NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 2069 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CGAGGCACTGGAGAAGGAGGT 0.662000 7 26 0 0 1 0 0 NR2E1 7101 broad.mit.edu 37 6 108499435 108499435 + Missense_Mutation SNP T T C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr6:108499435T>C ENST00000368986.4 + 5 1340 c.632T>C c.(631-633)tTg>tCg p.L211S NR2E1_ENST00000368983.3_Missense_Mutation_p.L248S NM_003269.3 NP_003260.1 Q9Y466 NR2E1_HUMAN nuclear receptor subfamily 2, group E, member 1 211 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3) 30 all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637) BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689) ACGCTGTCTTTGCAAGACCAG 0.507000 8 54 0 0 1 0 0 SLC4A11 83959 broad.mit.edu 37 20 3211402 3211402 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr20:3211402C>T ENST00000380059.3 - 11 1488 c.1387G>A c.(1387-1389)Gcg>Acg p.A463T SLC4A11_ENST00000539553.1_Missense_Mutation_p.A420T|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Missense_Mutation_p.A436T NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 436 Membrane (bicarbonate transporter). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 GCCAGGGGCGCGGTGGTCAGC 0.682000 3 38 0 0 1 0 0 GORASP1 64689 broad.mit.edu 37 3 39139759 39139759 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr3:39139759C>T ENST00000319283.3 - 9 2112 c.1291G>A c.(1291-1293)Gac>Aac p.D431N GORASP1_ENST00000479927.1_Missense_Mutation_p.D336N|GORASP1_ENST00000422110.2_Missense_Mutation_p.D276N NM_031899.2 NP_114105.1 Q9BQQ3 GORS1_HUMAN golgi reassembly stacking protein 1, 65kDa 431 mitotic prophase|protein transport cytosol|Golgi apparatus|membrane central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) GCCTGGCTGTCCAGCCCCTCA 0.607000 20 47 0 0 1 0 0 POLR2K 5440 broad.mit.edu 37 8 101163574 101163574 + Splice_Site SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr8:101163574G>A ENST00000353107.3 + 2 126 c.e2-1 POLR2K_ENST00000522439.1_Splice_Site|POLR2K_ENST00000519765.1_3'UTR NM_005034.3 NP_005025.1 P53803 RPAB4_HUMAN polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction nucleoplasm DNA binding|DNA-directed RNA polymerase activity|zinc ion binding large_intestine(1)|lung(1)|prostate(1) 3 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.59e-09)|all cancers(13;1.74e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) TGTGATTTCAGGGGCTAACAA 0.418000 11 69 0 0 1 0 0 FAM89B 23625 broad.mit.edu 37 11 65341071 65341071 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr11:65341071C>T ENST00000316409.2 + 2 811 c.490C>T c.(490-492)Cgt>Tgt p.R164C FAM89B_ENST00000449319.2_3'UTR|FAM89B_ENST00000530349.1_Missense_Mutation_p.R177C NM_001098784.1|NM_001098785.1|NM_152832.2 NP_001092254.1|NP_001092255.1|NP_690045.1 Q8N5H3 FA89B_HUMAN family with sequence similarity 89, member B 164 large_intestine(1)|urinary_tract(2) 3 GCACAATGCCCGTGACCAGTG 0.662000 11 43 0 0 1 0 0 TRAV26-1 28657 broad.mit.edu 37 14 22592028 22592028 + RNA SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr14:22592028C>G ENST00000390455.3 + 0 322 GCAAACCTGCCTTGTAATCAC 0.443000 7 118 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3789613 3789613 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr16:3789613C>G ENST00000262367.5 - 25 5055 c.4246G>C c.(4246-4248)Gaa>Caa p.E1416Q CREBBP_ENST00000382070.3_Missense_Mutation_p.E1378Q NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1416 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GAGCCGTATTCTTGGACGTGC 0.493000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 11 42 0 0 1 0 0 SMG5 23381 broad.mit.edu 37 1 156235927 156235927 + Silent SNP A A G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr1:156235927A>G ENST00000361813.5 - 12 1644 c.1500T>C c.(1498-1500)agT>agC p.S500S SMG5_ENST00000368267.4_Intron NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 500 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) CACCTTCAAGACTCTTGTCAG 0.532000 16 98 0 0 1 0 0 KCNJ15 3772 broad.mit.edu 37 21 39671975 39671975 + Silent SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr21:39671975G>A ENST00000398930.1 + 4 1146 c.792G>A c.(790-792)ctG>ctA p.L264L KCNJ15_ENST00000398934.1_Silent_p.L264L|KCNJ15_ENST00000328656.3_Silent_p.L264L|KCNJ15_ENST00000398938.2_Silent_p.L264L|KCNJ15_ENST00000398932.1_Silent_p.L264L Q99712 IRK15_HUMAN potassium inwardly-rectifying channel, subfamily J, member 15 264 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 CGAGCCCCCTGAGAGACCTCA 0.547000 12 30 0 0 1 0 0 TDGF1P3 6998 broad.mit.edu 37 X 109764337 109764337 + RNA SNP T T C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chrX:109764337T>C ENST00000602699.1 + 0 798 NR_002718.2 ACGCCTCTTTTCCCCCTAATT 0.403000 25 57 0 0 1 0 0 MSI2 124540 broad.mit.edu 37 17 55478817 55478817 + Silent SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr17:55478817C>T ENST00000284073.2 + 6 599 c.390C>T c.(388-390)ttC>ttT p.F130F MSI2_ENST00000442934.2_Silent_p.F69F|MSI2_ENST00000322684.3_Silent_p.F126F|MSI2_ENST00000579180.1_Silent_p.F26F|MSI2_ENST00000416426.2_Silent_p.F108F NM_138962.2 NP_620412.1 Q96DH6 MSI2H_HUMAN musashi RNA-binding protein 2 130 RRM 2. cytoplasm nucleotide binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1) 7 Breast(9;1.78e-08) GBM - Glioblastoma multiforme(1;0.0025) AGCAATATTTCGAGCAGTTTG 0.488000 T HOXA9 CML 20 61 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37431192 37431192 + Missense_Mutation SNP A A T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr10:37431192A>T ENST00000374660.1 + 7 1298 c.1199A>T c.(1198-1200)gAa>gTa p.E400V ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E400V|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E400V Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 456 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CCTACAAAAGAATCATCTACA 0.378000 4 20 0 0 1 0 0 TIMP3 7078 broad.mit.edu 37 22 33255201 33255201 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr22:33255201C>T ENST00000266085.6 + 5 774 c.473C>T c.(472-474)aCt>aTt p.T158I SYN3_ENST00000332840.5_Intron|SYN3_ENST00000358763.2_Intron NM_000362.4 NP_000353.1 P35625 TIMP3_HUMAN TIMP metallopeptidase inhibitor 3 158 Mediates interaction with EFEMP1. negative regulation of membrane protein ectodomain proteolysis|visual perception metal ion binding|metalloendopeptidase inhibitor activity|protein binding endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1) 7 TGCTTTGTGACTTCCAAGAAC 0.542000 72 61 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120475322 120475322 + Missense_Mutation SNP T T G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr9:120475322T>G ENST00000355622.6 + 3 1017 c.916T>G c.(916-918)Tgt>Ggt p.C306G TLR4_ENST00000394487.4_Missense_Mutation_p.C266G|TLR4_ENST00000472304.1_3'UTR NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 306 C -> W (in dbSNP:rs2770145). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 CTTATTTAATTGTTTGACAAA 0.338000 12 55 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204944417 204944417 + Missense_Mutation SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr1:204944417G>A ENST00000367172.4 + 15 1905 c.1577G>A c.(1576-1578)cGg>cAg p.R526Q NFASC_ENST00000338586.6_Missense_Mutation_p.R526Q|NFASC_ENST00000404907.1_Missense_Mutation_p.R537Q|NFASC_ENST00000401399.1_Missense_Mutation_p.R526Q|NFASC_ENST00000367170.4_Missense_Mutation_p.R526Q|NFASC_ENST00000360049.4_Missense_Mutation_p.R537Q|NFASC_ENST00000403080.1_Missense_Mutation_p.R526Q|NFASC_ENST00000339876.6_Missense_Mutation_p.R526Q|NFASC_ENST00000539706.1_Missense_Mutation_p.R537Q|NFASC_ENST00000404076.1_Missense_Mutation_p.R520Q|NFASC_ENST00000513543.1_Missense_Mutation_p.R537Q|NFASC_ENST00000367171.4_Missense_Mutation_p.R526Q|NFASC_ENST00000367169.4_Missense_Mutation_p.R526Q|NFASC_ENST00000338515.6_Missense_Mutation_p.R526Q O94856 NFASC_HUMAN neurofascin 526 Ig-like C2-type 6. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AGGATCTACCGGATGCCCGAG 0.632000 OREG0014142 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 75 0 0 1 0 0 ADAM22 53616 broad.mit.edu 37 7 87778374 87778374 + Splice_Site SNP T T A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr7:87778374T>A ENST00000398204.4 + 18 1889 c.e18+2 ADAM22_ENST00000315984.7_Splice_Site|ADAM22_ENST00000265727.7_Splice_Site|ADAM22_ENST00000398201.4_Splice_Site|ADAM22_ENST00000398209.3_Splice_Site NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) TCAAGCCAGGTAATTTACAAA 0.388000 3 28 0 0 1 0 0 PHLDA1 22822 broad.mit.edu 37 12 76424317 76424317 + Nonstop_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr12:76424317C>G ENST00000266671.5 - 1 3395 c.1205G>C c.(1204-1206)tGa>tCa p.*402S RP11-290L1.3_ENST00000552367.1_RNA|PHLDA1_ENST00000602540.1_Nonstop_Mutation_p.*261S Q8WV24 PHLA1_HUMAN pleckstrin homology-like domain, family A, member 1 0 apoptosis cytoplasmic vesicle membrane|nucleolus|plasma membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 14 Colorectal(145;0.09) CTGCCCCTTTCAGGCAGAGTT 0.662000 9 61 0 0 1 0 0 ARL2 402 broad.mit.edu 37 11 64787927 64787927 + Missense_Mutation SNP A A G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr11:64787927A>G ENST00000246747.4 + 4 471 c.376A>G c.(376-378)Aag>Gag p.K126E ARL2_ENST00000533729.1_Intron|ARL2_ENST00000529384.1_Missense_Mutation_p.K126E|SNX15_ENST00000301886.3_Intron NM_001667.3 NP_001658.2 P36404 ARL2_HUMAN ADP-ribosylation factor-like 2 126 cell cycle|centrosome organization|maintenance of protein location in nucleus|negative regulation of GTPase activity|positive regulation of cell-substrate adhesion|positive regulation of microtubule polymerization|small GTPase mediated signal transduction|tight junction assembly|tubulin complex assembly centrosome|lateral plasma membrane|mitochondrial intermembrane space|nucleus GTP binding|GTPase activity|GTPase inhibitor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 5 CTTTGCTAATAAGCAGGACCT 0.587000 4 29 0 0 1 0 0 PITX2 5308 broad.mit.edu 37 4 111542381 111542381 + Missense_Mutation SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr4:111542381G>A ENST00000354925.2 - 6 2034 c.329C>T c.(328-330)cCg>cTg p.P110L PITX2_ENST00000306732.3_Missense_Mutation_p.P117L|PITX2_ENST00000557119.2_Missense_Mutation_p.P117L|PITX2_ENST00000394598.2_Missense_Mutation_p.P110L|PITX2_ENST00000355080.5_Missense_Mutation_p.P64L|PITX2_ENST00000394595.3_Intron NM_001204397.1 NP_001191326.1 Q99697 PITX2_HUMAN paired-like homeodomain 2 110 P -> L (in RIEG1).|P -> R (in RIEG1). determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|endometrium(3)|large_intestine(1)|lung(5) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) GGACATGTCCGGGTAGCGGTT 0.622000 8 30 0 0 1 0 0 ZNF789 285989 broad.mit.edu 37 7 99084102 99084102 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr7:99084102C>G ENST00000331410.5 + 5 539 c.269C>G c.(268-270)tCt>tGt p.S90C ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000494186.1_Intron NM_213603.2 NP_998768.2 Q5FWF6 ZN789_HUMAN zinc finger protein 789 90 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1) 11 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TGGCTAGGTTCTGAAGCCAGA 0.373000 4 13 0 0 1 0 0 POLR2K 5440 broad.mit.edu 37 8 101164063 101164063 + Missense_Mutation SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr8:101164063G>A ENST00000353107.3 + 3 208 c.73G>A c.(73-75)Gaa>Aaa p.E25K POLR2K_ENST00000522439.1_Missense_Mutation_p.E25K|POLR2K_ENST00000519765.1_3'UTR NM_005034.3 NP_005025.1 P53803 RPAB4_HUMAN polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa 25 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction nucleoplasm DNA binding|DNA-directed RNA polymerase activity|zinc ion binding large_intestine(1)|lung(1)|prostate(1) 3 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.59e-09)|all cancers(13;1.74e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) GTGTCACACAGAAAATGAAAT 0.294000 4 18 0 0 1 0 0 TMEM106A 113277 broad.mit.edu 37 17 41365217 41365217 + Missense_Mutation SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr17:41365217G>A ENST00000331615.3 + 3 394 c.157G>A c.(157-159)Gat>Aat p.D53N TMEM106A_ENST00000592564.1_3'UTR|TMEM106A_ENST00000541594.1_Missense_Mutation_p.D5N|TMEM106A_ENST00000536052.1_Missense_Mutation_p.D53N|TMEM106A_ENST00000588659.1_Missense_Mutation_p.D53N NM_145041.1 NP_659478.1 Q96A25 T106A_HUMAN transmembrane protein 106A 53 integral to membrane p.D53N(1) NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1) 11 Breast(137;0.0164) BRCA - Breast invasive adenocarcinoma(366;0.0917) AGGAACTGCTGATGCCAGCTT 0.552000 11 116 0 0 1 0 0 USP33 23032 broad.mit.edu 37 1 78189060 78189060 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr1:78189060C>G ENST00000370793.1 - 13 1784 c.1438G>C c.(1438-1440)Gat>Cat p.D480H USP33_ENST00000370794.3_Missense_Mutation_p.D449H|USP33_ENST00000370792.3_Missense_Mutation_p.D480H|USP33_ENST00000357428.1_Missense_Mutation_p.D480H NM_015017.4 NP_055832.3 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 480 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 ATTGTTCCATCAAATATGTCT 0.323000 14 40 0 0 1 0 0 EVC 2121 broad.mit.edu 37 4 5754640 5754640 + Silent SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr4:5754640G>A ENST00000382674.2 + 9 1360 c.1176G>A c.(1174-1176)gaG>gaA p.E392E EVC_ENST00000264956.6_Silent_p.E392E|EVC_ENST00000509451.1_Silent_p.E392E P57679 EVC_HUMAN Ellis van Creveld syndrome 392 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) TCCAGGAGGAGACCAGGTGCC 0.627000 14 38 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104433325 104433325 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr9:104433325C>T ENST00000361820.3 - 3 1969 c.1369G>A c.(1369-1371)Gtc>Atc p.V457I NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 457 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) TCTGAGCTGACGATGGTGGAA 0.478000 40 148 0 0 1 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55340825 55340825 + Missense_Mutation SNP G G T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr19:55340825G>T ENST00000391728.4 + 7 1043 c.1010G>T c.(1009-1011)aGa>aTa p.R337I KIR3DL1_ENST00000541392.1_Missense_Mutation_p.R320I|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.R337I|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.R320I|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.R242I|KIR3DL1_ENST00000402254.2_Intron NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) GGTAACCCCAGACACCTGCAC 0.433000 10 84 0.00010058 0.000106986 1 1 0 ANAPC2 29882 broad.mit.edu 37 9 140077680 140077680 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr9:140077680C>G ENST00000323927.2 - 6 1187 c.1183G>C c.(1183-1185)Gac>Cac p.D395H NM_013366.3 NP_037498.1 Q9UJX6 ANC2_HUMAN anaphase promoting complex subunit 2 395 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) GTGATGATGTCACACGTGTTG 0.617000 40 138 0 0 1 0 0 ACVRL1 94 broad.mit.edu 37 12 52309021 52309021 + Nonsense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr12:52309021C>G ENST00000550683.1 + 6 928 c.827C>G c.(826-828)tCa>tGa p.S276* ACVRL1_ENST00000419526.2_Nonsense_Mutation_p.S88*|ACVRL1_ENST00000388922.4_Nonsense_Mutation_p.S262* NM_001077401.1 NP_001070869.1 P37023 ACVL1_HUMAN activin A receptor type II-like 1 262 Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) TTCATCGCCTCAGACATGACC 0.617000 17 50 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3781195 3781195 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr16:3781195C>T ENST00000262367.5 - 30 5979 c.5170G>A c.(5170-5172)Gag>Aag p.E1724K CREBBP_ENST00000382070.3_Missense_Mutation_p.E1686K NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1724 Interaction with TRERF1. ED -> VV (in Ref. 2; AAC51340). cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GGGCCTACCTCGCACACAGTG 0.652000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 30 124 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 3 40 0 0 1 0 0 ITGA9 3680 broad.mit.edu 37 3 37565099 37565099 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr3:37565099C>T ENST00000264741.5 + 12 1580 c.1324C>T c.(1324-1326)Cct>Tct p.P442S ITGA9_ENST00000422441.1_Missense_Mutation_p.P442S NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 442 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity p.P442T(1) breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) AAATGGCTATCCTGGTAAGCT 0.383000 7 65 0 0 1 0 0 GEMIN4 50628 broad.mit.edu 37 17 650277 650277 + Missense_Mutation SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr17:650277G>A ENST00000576778.1 - 1 2314 c.973C>T c.(973-975)Cgc>Tgc p.R325C GEMIN4_ENST00000437269.1_3'UTR|GEMIN4_ENST00000319004.5_Missense_Mutation_p.R336C P57678 GEMI4_HUMAN gem (nuclear organelle) associated protein 4 336 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) TGGCTGCTGCGGAGCACGGCC 0.632000 7 41 0 0 1 0 0 OR4N5 390437 broad.mit.edu 37 14 20612192 20612192 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr14:20612192C>G ENST00000333629.1 + 1 298 c.298C>G c.(298-300)Cag>Gag p.Q100E NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) CTGCATCACTCAGCTCTTTTT 0.493000 9 75 0 0 1 0 0 SUV420H1 51111 broad.mit.edu 37 11 67925781 67925781 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr11:67925781C>G ENST00000304363.4 - 11 2385 c.2032G>C c.(2032-2034)Gtg>Ctg p.V678L NM_017635.3 NP_060105.3 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 (Drosophila) 678 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 TCTGATGTCACAACTGAACAA 0.463000 10 34 0 0 1 0 0 GFRA1 2674 broad.mit.edu 37 10 117884826 117884826 + Nonsense_Mutation SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr10:117884826G>A ENST00000439649.3 - 5 1028 c.661C>T c.(661-663)Cga>Tga p.R221* GFRA1_ENST00000369236.1_Nonsense_Mutation_p.R221*|GFRA1_ENST00000355422.6_Nonsense_Mutation_p.R226*|GFRA1_ENST00000544592.1_Nonsense_Mutation_p.R105* NM_001145453.1 NP_001138925.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 226 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) ATGGTCTGTCGCCTCCGCTCT 0.562000 9 44 0 0 1 0 0 NEFH 4744 broad.mit.edu 37 22 29885739 29885739 + Missense_Mutation SNP T T A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr22:29885739T>A ENST00000310624.6 + 4 2143 c.2110T>A c.(2110-2112)Tcc>Acc p.S704T NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 710 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 AGAAGCAAAGTCCCCTGAGAA 0.557000 6 126 0 0 1 0 0 RICTOR 253260 broad.mit.edu 37 5 38950389 38950389 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr5:38950389C>G ENST00000357387.3 - 31 3591 c.3561G>C c.(3559-3561)aaG>aaC p.K1187N RICTOR_ENST00000296782.5_Missense_Mutation_p.K1187N NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 1187 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) TACCAAAATTCTTGGTGAATT 0.363000 24 176 0 0 1 0 0 ANKRD49 54851 broad.mit.edu 37 11 94230131 94230131 + Missense_Mutation SNP T T A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr11:94230131T>A ENST00000544253.1 + 2 390 c.272T>A c.(271-273)aTt>aAt p.I91N ANKRD49_ENST00000540349.1_Missense_Mutation_p.I91N|ANKRD49_ENST00000302755.4_Intron|ANKRD49_ENST00000544612.1_Intron Q8WVL7 ANR49_HUMAN ankyrin repeat domain 49 0 positive regulation of transcription, DNA-dependent autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1) 12 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AAAAAAAAAATTACAGAGGGA 0.398000 4 83 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466501 56466501 + Silent SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr19:56466501G>A ENST00000291971.3 + 3 1148 c.1077G>A c.(1075-1077)acG>acA p.T359T NLRP8_ENST00000590542.1_Silent_p.T359T NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 359 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GGTTTAATACGATGGAAAAAA 0.453000 28 60 0 0 1 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 3 24 0 0 1 0 0 TAPT1 202018 broad.mit.edu 37 4 16188416 16188416 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr4:16188416C>T ENST00000405303.2 - 6 917 c.834G>A c.(832-834)atG>atA p.M278I TAPT1_ENST00000508888.1_5'UTR|TAPT1_ENST00000399920.3_Missense_Mutation_p.M167I|TAPT1_ENST00000304584.8_Intron NM_153365.2 NP_699196.2 Q6NXT6 TAPT1_HUMAN transmembrane anterior posterior transformation 1 278 integral to membrane growth hormone-releasing hormone receptor activity NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1) 10 TATTAGACATCATGATAGTAA 0.318000 4 28 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 8 83 0 0 1 0 0 SNRNP200 23020 broad.mit.edu 37 2 96964614 96964614 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr2:96964614C>T ENST00000323853.5 - 7 898 c.821G>A c.(820-822)cGt>cAt p.R274H SNRNP200_ENST00000349783.5_Missense_Mutation_p.R274H NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 274 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 ATCATAGAAACGACTGAGCTG 0.438000 35 78 0 0 1 0 0 SALL4 57167 broad.mit.edu 37 20 50407635 50407635 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr20:50407635C>G ENST00000217086.4 - 2 1498 c.1387G>C c.(1387-1389)Gac>Cac p.D463H SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 463 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TCTATGGGGTCAGGTACAGAG 0.532000 23 128 0 0 1 0 0 APOBEC3A 200315 broad.mit.edu 37 22 39357577 39357577 + Silent SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr22:39357577G>A ENST00000402255.1 + 4 564 c.360G>A c.(358-360)gtG>gtA p.V120V APOBEC3A_ENST00000249116.2_Silent_p.V120V apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 Melanoma(58;0.04) ACACACACGTGAGACTGCGTA 0.572000 46 131 0 0 1 0 0 CCDC64 92558 broad.mit.edu 37 12 120510439 120510439 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr12:120510439C>T ENST00000397558.2 + 6 1214 c.1214C>T c.(1213-1215)tCg>tTg p.S405L CCDC64_ENST00000257583.4_Missense_Mutation_p.S54L|CCDC64_ENST00000446727.2_Intron NM_207311.2 NP_997194.2 Q6ZP65 BICR1_HUMAN coiled-coil domain containing 64 405 Golgi to secretory granule transport|neuron projection development centrosome dynactin binding|Rab GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCAGAAACCTCGTCCGCCAAG 0.567000 15 54 0 0 1 0 0 RADIL 55698 broad.mit.edu 37 7 4917450 4917450 + Silent SNP G G A TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr7:4917450G>A ENST00000399583.3 - 2 508 c.321C>T c.(319-321)gcC>gcT p.A107A RADIL_ENST00000536091.1_Silent_p.A107A NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 107 Ras-associating. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CGTACTGGCCGGCCTGCCTGG 0.692000 12 88 0 0 1 0 0 OOSP2 219990 broad.mit.edu 37 11 59812153 59812153 + Missense_Mutation SNP G G C TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr11:59812153G>C ENST00000278855.2 + 3 438 c.253G>C c.(253-255)Gag>Cag p.E85Q PLAC1L_ENST00000532905.1_Missense_Mutation_p.E54Q NM_173801.3 NP_776162.2 Q86WS3 PLACL_HUMAN 85 extracellular region breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1) 15 GGTAGTTTCTGAGGAAACTCT 0.398000 7 34 0 0 1 0 0 RNF41 10193 broad.mit.edu 37 12 56600242 56600242 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr12:56600242C>G ENST00000345093.4 - 7 1312 c.943G>C c.(943-945)Gaa>Caa p.E315Q RNF41_ENST00000394013.2_Missense_Mutation_p.E244Q|RNF41_ENST00000552656.1_Missense_Mutation_p.E315Q NM_005785.3|NM_194359.2 NP_005776.1|NP_919340.1 Q9H4P4 RNF41_HUMAN ring finger protein 41 315 apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1) 11 TATATCTCTTCCACGCCATGC 0.512000 OREG0021921 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 144 0 0 1 0 0 SLC9A3R1 9368 broad.mit.edu 37 17 72759559 72759559 + Silent SNP C C T rs147104235 byFrequency TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr17:72759559C>T ENST00000262613.5 + 3 852 c.657C>T c.(655-657)atC>atT p.I219I SLC9A3R1_ENST00000413388.2_Silent_p.I63I NM_004252.4 NP_004243.1 O14745 NHRF1_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1 219 PDZ 2. apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association large_intestine(4) 4 TGTCCGCCATCAGGGCTGGCG 0.607000 8 23 0 0 1 0 0 CRELD2 79174 broad.mit.edu 37 22 50315265 50315265 + Missense_Mutation SNP G G T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr22:50315265G>T ENST00000404488.3 + 5 583 c.448G>T c.(448-450)Ggg>Tgg p.G150W CRELD2_ENST00000407217.3_Missense_Mutation_p.G150W|CRELD2_ENST00000328268.4_Missense_Mutation_p.G150W|CRELD2_ENST00000403427.3_Missense_Mutation_p.G150W|CRELD2_ENST00000444954.1_3'UTR NM_001135101.1 NP_001128573.1 Q6UXH1 CREL2_HUMAN cysteine-rich with EGF-like domains 2 150 EGF-like 1. endoplasmic reticulum|extracellular region calcium ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3) 9 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247) GCCCTGCAGCGGGAATGGCCA 0.652000 3 60 1 1 1 1 0 LINGO3 645191 broad.mit.edu 37 19 2290251 2290251 + Missense_Mutation SNP C C G TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr19:2290251C>G ENST00000585527.1 - 1 1772 c.1525G>C c.(1525-1527)Gag>Cag p.E509Q LINGO3_ENST00000404279.1_Missense_Mutation_p.E509Q P0C6S8 LIGO3_HUMAN leucine rich repeat and Ig domain containing 3 509 integral to membrane lung(1)|urinary_tract(1) 2 TTGTGGGCCTCGCCCGGGGTC 0.726000 4 26 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31770038 31770038 + Missense_Mutation SNP C C T TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr19:31770038C>T ENST00000240587.4 - 2 988 c.661G>A c.(661-663)Gct>Act p.A221T NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 221 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TCGTAGGCAGCGCTGCAGTCC 0.602000 13 146 0 0 1 0 0 ALS2CR11 151254 broad.mit.edu 37 2 202352352 202352352 + Frame_Shift_Del DEL T T - TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr2:202352352delT ENST00000439140.1 - 16 5490 c.5446delA c.(5446-5448)ttfs p.I1816fs ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs NM_001168221.1 NP_001161693.1 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 619 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3) 33 CCTCTTTTAATTTTTTTTGGC 0.323 7 54 --- --- --- --- NBEAL1 65065 broad.mit.edu 37 2 204030880 204030882 + In_Frame_Del DEL AAG AAG - TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr2:204030880_204030882delAAG ENST00000449802.1 + 36 5969_5971 c.5636_5638delAAG c.(5635-5640)aaa>a p.KE1879del NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 1879 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 AGTGATGAGAAAGAAGAACAGGA 0.281 15 33 --- --- --- --- MAFA 389692 broad.mit.edu 37 8 144511954 144511956 + In_Frame_Del DEL TGG TGG - TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr8:144511954_144511956delTGG ENST00000333480.2 - 1 620_622 c.621_623delCCA c.(619-624)cat>ca p.HH207del MAFA_ENST00000528185.1_5'UTR NM_201589.3 NP_963883.2 Q8NHW3 MAFA_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A 207 His-rich. insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus nucleus protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H208delH(3) breast(1)|lung(1)|upper_aerodigestive_tract(2) 4 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237) CGCGCCGCCAtggtggtggtggt 0.744 HNSCC(29;0.082) 2 4 --- --- --- --- LRRC14 9684 broad.mit.edu 37 8 145746499 145746502 + Frame_Shift_Del DEL TGAG TGAG - TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr8:145746499_145746502delTGAG ENST00000292524.1 + 4 1265_1268 c.1119_1122delTGAG c.(1117-1122)acfs p.TE373fs LRRC14_ENST00000529022.1_Frame_Shift_Del_p.TE373fs NM_001272036.1|NM_014665.2 NP_001258965.1|NP_055480.1 Q15048 LRC14_HUMAN leucine rich repeat containing 14 373 endometrium(1)|lung(3)|prostate(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TGGAGCTGACTGAGTGTCAGCTCG 0.593 10 50 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396278 + RNA INS - - T rs148140777 by1000genomes TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr10:118396277_118396278insT ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTTT 0.421 2 4 --- --- --- --- CD37 951 broad.mit.edu 37 19 49841253 49841253 + Frame_Shift_Del DEL G G - TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chr19:49841253delG ENST00000535669.2 + 5 528 c.414delG c.(412-414)gcfs p.A139fs CD37_ENST00000323906.4_Frame_Shift_Del_p.A139fs|CD37_ENST00000598095.1_Frame_Shift_Del_p.A71fs|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000426897.2_Frame_Shift_Del_p.A71fs|CD37_ENST00000596426.1_3'UTR P11049 CD37_HUMAN CD37 molecule 139 integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 11 all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443) AGGAGACCGCGGCCGAGGAGA 0.632 17 49 --- --- --- --- RNA5-8SP6 100873336 broad.mit.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-55-7726-01A-11D-2167-08 TCGA-55-7726-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8928b562-7e58-4619-868f-5be53aeec89f 5f0443ea-b942-439d-bd2e-f2a7b8e6b678 g.chrY:10037863delC ENST00000515896.1 + 0 100 ATCGACACTTCGAACGCACTT 0.552 7 31 --- --- --- ---