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 PCDHB14 56122 broad.mit.edu 37 5 140604627 140604627 + Missense_Mutation SNP G G C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr5:140604627G>C ENST00000239449.4 + 1 1550 c.1550G>C c.(1549-1551)aGg>aCg p.R517T PCDHB14_ENST00000515856.2_Missense_Mutation_p.R364T NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 517 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTGCCCTCAGGTCGCTGGAC 0.682000 20 153 0 0 0.639603 0 0 LILRB2 10288 broad.mit.edu 37 19 54780728 54780728 + Silent SNP C C G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr19:54780728C>G ENST00000391748.1 - 10 1540 c.1413G>C c.(1411-1413)ctG>ctC p.L471L LILRB2_ENST00000391749.4_Silent_p.L472L|LILRB2_ENST00000434421.1_Silent_p.L356L|LILRB2_ENST00000391746.1_Silent_p.L472L|LILRB2_ENST00000314446.5_Silent_p.L471L NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 472 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ggaggaggagcagtaggaCGA 0.582000 36 124 0 0 0.788014 0 0 VPS33B 26276 broad.mit.edu 37 15 91557072 91557072 + Nonsense_Mutation SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr15:91557072G>A ENST00000333371.3 - 5 672 c.319C>T c.(319-321)Cga>Tga p.R107* VPS33B_ENST00000557358.1_5'UTR|VPS33B_ENST00000535906.1_Nonsense_Mutation_p.R80*|VPS33B_ENST00000535843.1_Nonsense_Mutation_p.R16* NM_018668.3 NP_061138.3 Q9H267 VP33B_HUMAN vacuolar protein sorting 33 homolog B (yeast) 107 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2) 16 Lung NSC(78;0.0987)|all_lung(78;0.175) TTGCGAGTTCGGCCAGCCAAT 0.517000 40 146 0 0 0.840704 0 0 TRHDE 29953 broad.mit.edu 37 12 73014920 73014920 + Silent SNP T T C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr12:73014920T>C ENST00000261180.4 + 14 2463 c.2367T>C c.(2365-2367)taT>taC p.Y789Y NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 789 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 CAACAACATATATCAAGCTTG 0.313000 25 82 0 0 0.706142 0 0 C3 718 broad.mit.edu 37 19 6692960 6692960 + Missense_Mutation SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr19:6692960G>A ENST00000245907.6 - 26 3457 c.3365C>T c.(3364-3366)gCg>gTg p.A1122V NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1122 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TATCACGGGCGCATCCTCCTG 0.557000 5 274 0 0 0.184627 0 0 COBLL1 22837 broad.mit.edu 37 2 165551667 165551667 + Silent SNP C C A rs61748611 TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr2:165551667C>A ENST00000375458.2 - 11 2456 c.2235G>T c.(2233-2235)tcG>tcT p.S745S COBLL1_ENST00000194871.6_Silent_p.S850S|COBLL1_ENST00000392717.2_Silent_p.S821S|COBLL1_ENST00000409184.3_Silent_p.S783S|COBLL1_ENST00000342193.4_Silent_p.S783S NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 821 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 GCCAGTCTTTCGATATTTCCA 0.383000 5 321 0.248553 0.253184 0.248553 1 0 LRRC4C 57689 broad.mit.edu 37 11 40135934 40135934 + Missense_Mutation SNP C C G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr11:40135934C>G ENST00000278198.2 - 2 3872 c.1909G>C c.(1909-1911)Gag>Cag p.E637Q LRRC4C_ENST00000527150.1_Missense_Mutation_p.E637Q|LRRC4C_ENST00000528697.1_Missense_Mutation_p.E637Q|LRRC4C_ENST00000530763.1_Missense_Mutation_p.E637Q Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 637 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) ATTTGAGTCTCTTGTACATTG 0.318000 18 97 0 0 0.539581 0 0 C5orf54 63920 broad.mit.edu 37 5 159821393 159821393 + Nonsense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr5:159821393C>A ENST00000408953.3 - 2 1612 c.1105G>T c.(1105-1107)Gag>Tag p.E369* C5orf54_ENST00000523213.1_Nonsense_Mutation_p.E369* NM_022090.3 NP_071373.2 Q8IZ13 CE054_HUMAN chromosome 5 open reading frame 54 369 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 12 attttaaactctttattttca 0.353000 20 80 3.51602e-12 4.17845e-12 0.575678 1 0 DCAF17 80067 broad.mit.edu 37 2 172309702 172309702 + Silent SNP G G T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr2:172309702G>T ENST00000375255.3 + 6 933 c.606G>T c.(604-606)ggG>ggT p.G202G DCAF17_ENST00000539783.1_Silent_p.G202G|DCAF17_ENST00000468592.1_3'UTR NM_025000.3 NP_079276.2 Q5H9S7 DCA17_HUMAN DDB1 and CUL4 associated factor 17 202 CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus p.G202G(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1) 17 CACTTGTAGGGATTCTAGAGA 0.328000 4 99 0.184627 0.189243 0.184627 1 0 MTNR1B 4544 broad.mit.edu 37 11 92715080 92715080 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr11:92715080C>T ENST00000257068.2 + 2 697 c.691C>T c.(691-693)Cgc>Tgc p.R231C NM_005959.3 NP_005950.1 P49286 MTR1B_HUMAN melatonin receptor 1B 231 R -> H (in dbSNP:rs8192553). G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) GCTTCAGGCCCGCAGGAAAGC 0.582000 21 127 0 0 0.592651 0 0 COL4A3 1285 broad.mit.edu 37 2 228173694 228173694 + Silent SNP A A T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr2:228173694A>T ENST00000396578.3 + 49 4704 c.4542A>T c.(4540-4542)gcA>gcT p.A1514A AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 1514 Collagen IV NC1.|Required for the anti-angiogenic activity of tumstatin. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GTAATTTTGCATCTCGAAATG 0.433000 35 106 0 0 0.788014 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803554 142803554 + RNA SNP T T A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr1:142803554T>A ENST00000423385.1 - 0 1411 CTGATGAATCTGCAGTCAGGT 0.274000 5 226 0 0 0.184627 0 0 HECTD4 283450 broad.mit.edu 37 12 112617111 112617111 + Missense_Mutation SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr12:112617111G>A ENST00000550722.1 - 63 11035 c.10640C>T c.(10639-10641)gCg>gTg p.A3547V HECTD4_ENST00000377560.5_Missense_Mutation_p.A3521V|HECTD4_ENST00000430131.2_Missense_Mutation_p.A3271V NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GATGGGCTTCGCTGGTGTCAG 0.547000 7 29 0 0 0.248553 0 0 SCUBE1 80274 broad.mit.edu 37 22 43617226 43617226 + Missense_Mutation SNP G G C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr22:43617226G>C ENST00000360835.3 - 13 1628 c.1502C>G c.(1501-1503)cCc>cGc p.P501R NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 501 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) CTGGCTGTGGGGCCGGAGGTG 0.642000 18 56 0 0 0.539581 0 0 CSMD3 114788 broad.mit.edu 37 8 114111056 114111056 + Missense_Mutation SNP T T C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr8:114111056T>C ENST00000297405.5 - 5 1090 c.846A>G c.(844-846)atA>atG p.I282M CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Missense_Mutation_p.I282M|CSMD3_ENST00000343508.3_Missense_Mutation_p.I242M|CSMD3_ENST00000455883.2_Missense_Mutation_p.I282M NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 282 CUB 2. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AATCAGTAAATATGAGTGAAA 0.383000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 26 118 0 0 0.667858 0 0 FAT2 2196 broad.mit.edu 37 5 150885275 150885275 + Missense_Mutation SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr5:150885275G>A ENST00000261800.5 - 23 12913 c.12901C>T c.(12901-12903)Cgc>Tgc p.R4301C NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 4301 epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CGGCTGAGGCGCATACCCACC 0.667000 4 73 0 0 0.150653 0 0 YIPF7 285525 broad.mit.edu 37 4 44626759 44626759 + Missense_Mutation SNP G G T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr4:44626759G>T ENST00000332990.5 - 5 555 c.539C>A c.(538-540)gCc>gAc p.A180D NM_182592.2 NP_872398.2 Q8N8F6 YIPF7_HUMAN Yip1 domain family, member 7 180 endoplasmic reticulum membrane|integral to membrane breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1) 12 GCAGCCAATGGCACTCATGCC 0.507000 3 15 1.23904e-05 1.37299e-05 0.184627 1 0 KDM6A 7403 broad.mit.edu 37 X 44929602 44929602 + Splice_Site SNP G G T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chrX:44929602G>T ENST00000377967.4 + 17 2743 c.2702_splice c.e17+1 p.R901_splice KDM6A_ENST00000543216.1_Splice_Site_p.R822_splice|KDM6A_ENST00000382899.4_Splice_Site_p.R908_splice|KDM6A_ENST00000536777.1_Splice_Site_p.R856_splice NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 901 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.R901K(1) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 AAGGCATGCAGGTTAGTGTGG 0.418000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 9 13 4.68919e-08 5.37781e-08 0.361761 1 0 GRM6 2916 broad.mit.edu 37 5 178413301 178413301 + Missense_Mutation SNP C C T rs150850494 TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr5:178413301C>T ENST00000231188.5 - 8 2132 c.1954G>A c.(1954-1956)Gcc>Acc p.A652T GRM6_ENST00000517717.1_Missense_Mutation_p.A652T|RP11-281O15.4_ENST00000519491.1_RNA NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 652 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) AGCCTGCGGGCGGCACAGACC 0.642000 4 21 0 0 0.184627 0 0 CPN2 1370 broad.mit.edu 37 3 194062541 194062541 + Silent SNP G G A rs140809499 byFrequency TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr3:194062541G>A ENST00000323830.3 - 2 980 c.891C>T c.(889-891)acC>acT p.T297T CPN2_ENST00000429275.1_Silent_p.T297T NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 297 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) GCTGGTTATGGGTCAGAGACA 0.587000 25 64 0 0 0.717897 0 0 KRT16 3868 broad.mit.edu 37 17 39767694 39767694 + Missense_Mutation SNP C C A rs142812826 byFrequency TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr17:39767694C>A ENST00000301653.4 - 3 738 c.674G>T c.(673-675)cGg>cTg p.R225L NM_005557.3 NP_005548.2 P08779 K1C16_HUMAN keratin 16 225 Coil 1B.|Rod. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) ATCCAACACCCGGCGCAGGCC 0.622000 25 101 4.87955e-14 5.84122e-14 0.693898 1 0 C22orf31 25770 broad.mit.edu 37 22 29454807 29454807 + Missense_Mutation SNP A A C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr22:29454807A>C ENST00000216071.4 - 3 847 c.796T>G c.(796-798)Ttc>Gtc p.F266V NM_015370.1 NP_056185.1 O95567 CV031_HUMAN chromosome 22 open reading frame 31 266 cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 27 CTGCCAGGGAACCGGTCCCTC 0.522000 17 154 0 0 0.520397 0 0 TOMM34 10953 broad.mit.edu 37 20 43572117 43572117 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr20:43572117C>T ENST00000372813.3 - 6 954 c.802G>A c.(802-804)Gct>Act p.A268T PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron NM_006809.4 NP_006800.2 Q15785 TOM34_HUMAN translocase of outer mitochondrial membrane 34 268 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane heat shock protein binding|signal sequence binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 11 Myeloproliferative disorder(115;0.0122) TGGGCTTGAGCCCGTCTGTAG 0.473000 5 222 0 0 0.248553 0 0 PKHD1 5314 broad.mit.edu 37 6 51893027 51893027 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr6:51893027C>T ENST00000371117.3 - 30 3762 c.3487G>A c.(3487-3489)Gca>Aca p.A1163T PKHD1_ENST00000340994.4_Missense_Mutation_p.A1163T NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1163 IPT/TIG 6; atypical. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GGGGGCAGTGCCACCTCCAGG 0.547000 5 212 0 0 0.184627 0 0 TUBBP1 92755 broad.mit.edu 37 8 30210308 30210308 + RNA SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr8:30210308G>A ENST00000518096.1 + 0 920 CCCTTCCCACGTCTCCATTTC 0.562000 15 123 0 0 0.479597 0 0 STXBP3 6814 broad.mit.edu 37 1 109295688 109295688 + Missense_Mutation SNP A A T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr1:109295688A>T ENST00000370008.3 + 3 153 c.103A>T c.(103-105)Atg>Ttg p.M35L NM_007269.2 NP_009200.2 O00186 STXB3_HUMAN syntaxin binding protein 3 35 Mediates interaction with DOC2B (By similarity). negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule syntaxin-2 binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1) 13 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231) TTTTAAGATAATGCTTTTAGA 0.289000 36 110 0 0 0.779181 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 6 85 0 0 0.278610 0 0 ZFAND4 93550 broad.mit.edu 37 10 46121636 46121636 + Silent SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr10:46121636C>T ENST00000374366.3 - 8 1878 c.1413G>A c.(1411-1413)gaG>gaA p.E471E ZFAND4_ENST00000344646.5_Silent_p.E545E|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Intron Q86XD8 ANUB1_HUMAN zinc finger, AN1-type domain 4 545 zinc ion binding TATCCCGAGCCTCAACTTTGG 0.398000 45 165 0 0 0.847076 0 0 EPHB4 2050 broad.mit.edu 37 7 100414856 100414856 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr7:100414856C>T ENST00000358173.3 - 8 2014 c.1546G>A c.(1546-1548)Ggg>Agg p.G516R EPHB4_ENST00000360620.3_Missense_Mutation_p.G516R|EPHB4_ENST00000477446.1_Intron NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 516 Fibronectin type-III 2. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) CCGAAGGGCCCGTAGCCGGCC 0.657000 7 31 0 0 0.307466 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 6 68 0 0 0.217242 0 0 MYO5A 4644 broad.mit.edu 37 15 52672048 52672048 + Silent SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr15:52672048G>A ENST00000399231.3 - 17 2313 c.2070C>T c.(2068-2070)atC>atT p.I690I MYO5A_ENST00000553916.1_Silent_p.I690I|MYO5A_ENST00000358212.6_Silent_p.I690I|MYO5A_ENST00000399233.2_Silent_p.I690I|MYO5A_ENST00000356338.6_Silent_p.I690I NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 690 Myosin head-like. 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) CACTGATTCGGATGGTTTCCA 0.473000 43 190 0 0 0.870114 0 0 ADCY8 114 broad.mit.edu 37 8 131793033 131793033 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr8:131793033C>T ENST00000286355.5 - 18 5451 c.3359G>A c.(3358-3360)cGa>cAa p.R1120Q ADCY8_ENST00000377928.3_Missense_Mutation_p.R989Q NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 1120 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GCTGTCCATTCGGCTTGCCAG 0.567000 HNSCC(32;0.087) 64 304 0 0 0.870114 0 0 ZNF12 7559 broad.mit.edu 37 7 6731084 6731084 + Nonsense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr7:6731084C>A ENST00000405858.1 - 5 2030 c.1489G>T c.(1489-1491)Gaa>Taa p.E497* AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Nonsense_Mutation_p.E423*|ZNF12_ENST00000342651.5_Nonsense_Mutation_p.E459* NM_006956.2|NM_016265.3 NP_008887.2|NP_057349.2 P17014 ZNF12_HUMAN zinc finger protein 12 497 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) TTTCCACATTCATTACATTCG 0.398000 48 180 2.65591e-33 3.57024e-33 0.870114 1 0 VWA2 340706 broad.mit.edu 37 10 116045935 116045935 + Missense_Mutation SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr10:116045935G>A ENST00000603594.1 + 11 1556 c.1235G>A c.(1234-1236)gGc>gAc p.G412D VWA2_ENST00000392982.3_Missense_Mutation_p.G412D NM_001272046.1 NP_001258975.1 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 412 VWFA 2. extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) AGCCTCGATGGCATTCCCTTC 0.697000 4 133 0 0 0.150653 0 0 NOC2L 26155 broad.mit.edu 37 1 889227 889227 + Missense_Mutation SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr1:889227G>A ENST00000327044.6 - 8 872 c.823C>T c.(823-825)Cgg>Tgg p.R275W NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog (S. cerevisiae) 275 nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) CTGATGTGCCGCAGCACGGCC 0.617000 7 53 0 0 0.278610 0 0 RFT1 91869 broad.mit.edu 37 3 53156407 53156407 + Missense_Mutation SNP T T C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr3:53156407T>C ENST00000296292.3 - 4 500 c.439A>G c.(439-441)Atg>Gtg p.M147V RFT1_ENST00000394738.3_Missense_Mutation_p.M108V NM_052859.3 NP_443091.1 Q96AA3 RFT1_HUMAN RFT1 homolog (S. cerevisiae) 147 carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane lipid transporter activity NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104) TTCACAAACATATGTGCTTGT 0.443000 44 93 0 0 0.870114 0 0 AHCYL2 23382 broad.mit.edu 37 7 129053482 129053482 + Missense_Mutation SNP A A G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr7:129053482A>G ENST00000325006.3 + 12 1468 c.1414A>G c.(1414-1416)Agc>Ggc p.S472G AHCYL2_ENST00000446212.1_Missense_Mutation_p.S370G|AHCYL2_ENST00000490911.1_Missense_Mutation_p.S369G|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S391G|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S471G|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S369G NM_001130720.2|NM_015328.3 NP_001124192.1|NP_056143.1 Q96HN2 SAHH3_HUMAN adenosylhomocysteinase-like 2 472 one-carbon metabolic process adenosylhomocysteinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 22 TATGAAGAATAGCTGCATCGT 0.428000 23 104 0 0 0.681144 0 0 CXCL10 3627 broad.mit.edu 37 4 76943875 76943875 + Missense_Mutation SNP C C G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr4:76943875C>G ENST00000306602.1 - 2 222 c.157G>C c.(157-159)Gca>Cca p.A53P ART3_ENST00000341029.5_Intron NM_001565.3 NP_001556.2 P02778 CXL10_HUMAN chemokine (C-X-C motif) ligand 10 53 blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation extracellular space cAMP-dependent protein kinase regulator activity|chemokine activity kidney(1)|large_intestine(1)|lung(1) 3 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) AATTGGCTTGCAGGAATAATT 0.363000 17 103 0 0 0.557998 0 0 FAM135B 51059 broad.mit.edu 37 8 139164635 139164635 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr8:139164635C>A ENST00000395297.1 - 13 2253 c.2083G>T c.(2083-2085)Gtc>Ttc p.V695F NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 695 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GACCAGGCGACGGAGCTTGGC 0.552000 HNSCC(54;0.14) 30 97 1.32181e-22 1.72045e-22 0.717897 1 0 OR8D4 338662 broad.mit.edu 37 11 123777296 123777296 + Missense_Mutation SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr11:123777296G>A ENST00000321355.2 + 1 188 c.158G>A c.(157-159)cGt>cAt p.R53H NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) AGGCTGAATCGTCAACTTCAT 0.408000 58 282 0 0 0.870114 0 0 KCNT2 343450 broad.mit.edu 37 1 196205130 196205130 + Silent SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr1:196205130C>T ENST00000367433.5 - 26 3311 c.3210G>A c.(3208-3210)gaG>gaA p.E1070E KCNT2_ENST00000294725.8_Silent_p.E1094E|KCNT2_ENST00000367431.4_Silent_p.E1028E|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 1094 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 CATCATTCAGCTCTATTCTGG 0.313000 89 298 0 0 0.870114 0 0 ACTL7B 10880 broad.mit.edu 37 9 111617803 111617803 + Silent SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr9:111617803G>A ENST00000374667.3 - 1 1436 c.408C>T c.(406-408)acC>acT p.T136T NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B 136 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 TCTTCATGGCGGTGCGGAAGA 0.622000 32 60 0 0 0.740014 0 0 POLI 11201 broad.mit.edu 37 18 51800403 51800403 + Missense_Mutation SNP G G T rs142974796 byFrequency TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr18:51800403G>T ENST00000579534.1 + 3 492 c.349G>T c.(349-351)Gta>Tta p.V117L POLI_ENST00000406285.3_Missense_Mutation_p.V117L|POLI_ENST00000579434.1_Missense_Mutation_p.V14L|POLI_ENST00000217800.5_Missense_Mutation_p.V14L NM_007195.2 NP_009126.2 Q9UNA4 POLI_HUMAN polymerase (DNA directed) iota 117 UmuC. DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1) 26 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) TCCACAGTTGGTATTAGTTAA 0.348000 DNA polymerases (catalytic subunits) 11 27 3.03607e-14 3.66115e-14 0.411799 1 0 APOBEC3D 140564 broad.mit.edu 37 22 39427930 39427930 + Missense_Mutation SNP T T C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr22:39427930T>C ENST00000216099.7 + 6 1401 c.994T>C c.(994-996)Tgc>Cgc p.C332R APOBEC3D_ENST00000427494.2_Missense_Mutation_p.C148R|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.C332R NM_152426.3 NP_689639.2 Q96AK3 ABC3D_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D 332 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2) 11 Melanoma(58;0.04) GGAGGGGCTCTGCAGCCTGAG 0.617000 11 139 0 0 0.624587 0 0 ESM1 11082 broad.mit.edu 37 5 54275232 54275232 + Silent SNP A A G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr5:54275232A>G ENST00000381405.4 - 3 628 c.483T>C c.(481-483)atT>atC p.I161I ESM1_ENST00000598310.1_5'UTR|ESM1_ENST00000381403.4_Silent_p.I111I NM_007036.4 NP_008967.1 Q9NQ30 ESM1_HUMAN endothelial cell-specific molecule 1 161 angiogenesis|regulation of cell growth extracellular region growth factor activity|insulin-like growth factor binding breast(1)|kidney(1)|large_intestine(4)|lung(4) 10 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116) Lung(15;0.23) CTTCTCTCACAATATTGCCAT 0.433000 19 134 0 0 0.557998 0 0 FOXC2 2303 broad.mit.edu 37 16 86601397 86601397 + Silent SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr16:86601397C>A ENST00000320354.4 + 1 541 c.456C>A c.(454-456)tcC>tcA p.S152S NM_005251.2 NP_005242.1 Q99958 FOXC2_HUMAN forkhead box C2 (MFH-1, mesenchyme forkhead 1) 152 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 15 ACCCGGACTCCTACAACATGT 0.627000 Late-onset Hereditary Lymphedema 30 98 1.74807e-11 2.06247e-11 0.750413 1 0 MARK1 4139 broad.mit.edu 37 1 220825399 220825399 + Missense_Mutation SNP G G T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr1:220825399G>T ENST00000402574.1 + 15 2240 c.1238G>T c.(1237-1239)cGa>cTa p.R413L MARK1_ENST00000366917.4_Missense_Mutation_p.R548L|MARK1_ENST00000366918.4_Missense_Mutation_p.R526L NM_018650.3 NP_061120.3 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 548 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) CCCTCAGCACGACCCCGCCAC 0.512000 20 116 0.00152264 0.00163211 0.592651 1 0 ALPK2 115701 broad.mit.edu 37 18 56246569 56246569 + Missense_Mutation SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr18:56246569G>A ENST00000361673.3 - 4 1652 c.1439C>T c.(1438-1440)gCc>gTc p.A480V NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 480 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 ATTGTCACTGGCAAATTCCTC 0.478000 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 209 0 0 0.150653 0 0 SCAI 286205 broad.mit.edu 37 9 127765428 127765428 + Missense_Mutation SNP T T A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr9:127765428T>A ENST00000336505.5 - 11 1088 c.1030A>T c.(1030-1032)Agc>Tgc p.S344C SCAI_ENST00000487795.1_5'UTR|SCAI_ENST00000373549.4_Missense_Mutation_p.S367C NM_001144877.2 NP_001138349.1 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion 344 negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1) 35 TATAGCTGGCTGAAGGTTGGT 0.383000 193 340 0 0 0.870114 0 0 CAPN15 6650 broad.mit.edu 37 16 602492 602492 + Missense_Mutation SNP A A T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr16:602492A>T ENST00000219611.2 + 11 3062 c.2699A>T c.(2698-2700)cAc>cTc p.H900L LA16c-366D1.3_ENST00000565879.1_RNA NM_005632.2 NP_005623.1 calpain 15 GCCTTCAACCACTGGGGGCCG 0.706000 8 24 0 0 0.307466 0 0 MED12L 116931 broad.mit.edu 37 3 151129183 151129183 + Missense_Mutation SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr3:151129183G>A ENST00000474524.1 + 39 5961 c.5923G>A c.(5923-5925)Gca>Aca p.A1975T MED12L_ENST00000273432.4_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1975 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CTATCCGGCCGCACATTCCAA 0.572000 4 164 0 0 0.150653 0 0 SLC6A12 6539 broad.mit.edu 37 12 306025 306025 + Missense_Mutation SNP A A C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr12:306025A>C ENST00000428720.1 - 11 1842 c.1099T>G c.(1099-1101)Ttc>Gtc p.F367V SLC6A12_ENST00000536824.1_Missense_Mutation_p.F367V|SLC6A12_ENST00000397296.2_Missense_Mutation_p.F367V|SLC6A12_ENST00000359674.4_Missense_Mutation_p.F367V|SLC6A12_ENST00000424061.2_Missense_Mutation_p.F367V NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 367 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) GCCTTGGGGAAGGCGATGAAG 0.582000 14 73 0 0 0.435327 0 0 MARCH7 64844 broad.mit.edu 37 2 160604745 160604745 + Missense_Mutation SNP A A T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr2:160604745A>T ENST00000259050.3 + 5 1066 c.944A>T c.(943-945)tAc>tTc p.Y315F MARCH7_ENST00000409591.1_Missense_Mutation_p.Y277F|MARCH7_ENST00000409175.1_Missense_Mutation_p.Y315F|MARCH7_ENST00000539065.1_Missense_Mutation_p.Y259F NM_022826.2 NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase 315 Ser-rich. ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 GAAAATTCTTACGTTTCTCCA 0.398000 26 94 0 0 0.693898 0 0 EPHA2 1969 broad.mit.edu 37 1 16475542 16475542 + Splice_Site SNP A A C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr1:16475542A>C ENST00000358432.5 - 3 308 c.153_splice c.e3-1 p.W52_splice EPHA2_ENST00000461614.1_5'UTR NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 52 activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) ATCAGGTCCCACTGTGGGGGG 0.557000 11 58 0 0 0.361761 0 0 FOXP4 116113 broad.mit.edu 37 6 41565600 41565600 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr6:41565600C>A ENST00000373060.1 + 16 2265 c.1807C>A c.(1807-1809)Ctc>Atc p.L603I FOXP4_ENST00000307972.4_Missense_Mutation_p.L603I|FOXP4_ENST00000373057.3_Missense_Mutation_p.L601I|FOXP4_ENST00000409208.1_Missense_Mutation_p.L591I|FOXP4_ENST00000373063.3_Missense_Mutation_p.L590I NM_001012426.1|NM_001012427.1 NP_001012426.1|NP_001012427.1 Q8IVH2 FOXP4_HUMAN forkhead box P4 603 embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development 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 autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) CCTGCTGCCCCTCAGCCACGA 0.706000 OREG0004068 type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 3 13 0.115264 0.119641 0.115264 1 0 EML4 27436 broad.mit.edu 37 2 42557100 42557100 + Missense_Mutation SNP C C G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr2:42557100C>G ENST00000318522.5 + 23 2961 c.2699C>G c.(2698-2700)cCg>cGg p.P900R EML4_ENST00000401738.3_Missense_Mutation_p.P911R|EML4_ENST00000453191.2_Missense_Mutation_p.P164R|EML4_ENST00000402711.2_Missense_Mutation_p.P842R NM_019063.3 NP_061936.2 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 900 microtubule-based process|mitosis cytoplasm|microtubule protein binding p.P900L(1) EML4/ALK(543) NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 12 ACTCCCACACCGCCTCCTTCT 0.473000 T ALK NSCLC 33 133 0 0 0.750413 0 0 RYR2 6262 broad.mit.edu 37 1 237870464 237870464 + Missense_Mutation SNP A A T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr1:237870464A>T ENST00000366574.2 + 68 10113 c.9796A>T c.(9796-9798)Aca>Tca p.T3266S RYR2_ENST00000542537.1_Missense_Mutation_p.T3250S|RYR2_ENST00000360064.6_Missense_Mutation_p.T3264S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3266 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GATGTGCTGCACAGCCCTGAA 0.478000 11 60 0 0 0.361761 0 0 UNC13C 440279 broad.mit.edu 37 15 54919300 54919300 + Nonsense_Mutation SNP G G T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr15:54919300G>T ENST00000545554.1 + 32 6634 c.6634G>T c.(6634-6636)Gag>Tag p.E2212* UNC13C_ENST00000537900.1_Nonsense_Mutation_p.E2210*|UNC13C_ENST00000260323.11_Nonsense_Mutation_p.E2212*|UNC13C_ENST00000539562.2_Nonsense_Mutation_p.E133* Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 2212 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ATCTACTGAAGAGAGTGCTTG 0.353000 12 28 1.08611e-07 1.23696e-07 0.387290 1 0 TCP11L2 255394 broad.mit.edu 37 12 106717343 106717343 + Missense_Mutation SNP A A G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr12:106717343A>G ENST00000546625.1 + 6 850 c.691A>G c.(691-693)Atg>Gtg p.M231V TCP11L2_ENST00000552690.1_3'UTR|TCP11L2_ENST00000547153.1_Missense_Mutation_p.M231V|TCP11L2_ENST00000299045.3_Missense_Mutation_p.M231V Q8N4U5 T11L2_HUMAN t-complex 11, testis-specific-like 2 231 endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2) 15 TTTTACAATTATGAGTCTCAG 0.363000 15 79 0 0 0.479597 0 0 PIK3R5 23533 broad.mit.edu 37 17 8792082 8792082 + Missense_Mutation SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr17:8792082G>A ENST00000447110.1 - 10 1146 c.1022C>T c.(1021-1023)gCc>gTc p.A341V PIK3R5_ENST00000584803.1_Missense_Mutation_p.A341V|PIK3R5_ENST00000581552.1_Missense_Mutation_p.A341V NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 341 DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121). platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 ATCTCTCTCGGCACAGTGCCC 0.617000 3 36 0 0 0.115264 0 0 WHSC1 7468 broad.mit.edu 37 4 1957915 1957915 + Splice_Site SNP G G T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr4:1957915G>T ENST00000382895.3 + 17 3312 c.2881_splice c.e17+1 p.A961_splice WHSC1_ENST00000382888.3_Splice_Site_p.A309_splice|WHSC1_ENST00000508803.1_Splice_Site_p.A961_splice|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382891.5_Splice_Site_p.A961_splice|WHSC1_ENST00000382892.2_Splice_Site_p.A961_splice NM_133330.2 NP_579877.1 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 961 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) CTTCAAAAACGGTACGGAGAT 0.463000 T IGH@ MM 15 138 2.31682e-05 2.55006e-05 0.479597 1 0 IL12A 3592 broad.mit.edu 37 3 159710911 159710911 + Splice_Site SNP A A T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr3:159710911A>T ENST00000305579.2 + 3 684 c.378_splice c.e3+1 p.K126_splice IL12A_ENST00000480787.1_Intron|IL12A_ENST00000466512.1_Splice_Site_p.K126_splice|CTD-2049J23.2_ENST00000497452.1_RNA NM_000882.3 NP_000873.2 P29459 IL12A_HUMAN interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) 92 cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus interleukin-12 complex cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity endometrium(3)|kidney(1)|large_intestine(1)|lung(4) 9 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GAATTAACCAAGGTATAAAGG 0.383000 24 99 0 0 0.681144 0 0 BCL2L11 10018 broad.mit.edu 37 2 111907687 111907687 + Missense_Mutation SNP G G T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr2:111907687G>T ENST00000393256.3 + 3 734 c.461G>T c.(460-462)cGt>cTt p.R154L BCL2L11_ENST00000393253.2_Missense_Mutation_p.R64L|BCL2L11_ENST00000308659.8_Missense_Mutation_p.R94L|BCL2L11_ENST00000357757.2_Missense_Mutation_p.R154L NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3 NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1 O43521 B2L11_HUMAN BCL2-like 11 (apoptosis facilitator) 154 activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane protein binding endometrium(4)|large_intestine(3)|lung(2)|prostate(2) 11 GAGTTGCGGCGTATTGGAGAC 0.448000 11 45 2.10051e-16 2.62964e-16 0.411799 1 0 PCDH10 57575 broad.mit.edu 37 4 134071805 134071805 + Silent SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr4:134071805C>T ENST00000264360.4 + 1 1336 c.510C>T c.(508-510)gaC>gaT p.D170D NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 170 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) TCTCCCTGGACGTGCAGACCC 0.637000 20 101 0 0 0.575678 0 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 3 15 0 0 0.184627 0 0 LRP1B 53353 broad.mit.edu 37 2 141283518 141283518 + Missense_Mutation SNP T T A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr2:141283518T>A ENST00000389484.3 - 49 8892 c.7921A>T c.(7921-7923)Aca>Tca p.T2641S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2641 LDL-receptor class A 14. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATGAACCCTGTGGTTTTCACT 0.383000 TSP Lung(27;0.18) 22 64 0 0 0.639603 0 0 NMS 129521 broad.mit.edu 37 2 101087010 101087010 + Silent SNP A A G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr2:101087010A>G ENST00000376865.1 + 1 67 c.60A>G c.(58-60)ctA>ctG p.L20L NM_001011717.1 NP_001011717.1 Q5H8A3 NMS_HUMAN neuromedin S 20 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1) 14 TCTGCATGCTACAGATTCCCT 0.537000 34 153 0 0 0.788014 0 0 ELTD1 64123 broad.mit.edu 37 1 79383352 79383352 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr1:79383352C>A ENST00000370742.3 - 12 1779 c.1716G>T c.(1714-1716)tgG>tgT p.W572C NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 572 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) CTATAAAACTCCAAATAAAGT 0.279000 10 46 3.86212e-05 4.19462e-05 0.361761 1 0 SEC31A 22872 broad.mit.edu 37 4 83770026 83770026 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr4:83770026C>A ENST00000432794.1 - 20 2596 c.2433G>T c.(2431-2433)aaG>aaT p.K811N SEC31A_ENST00000348405.4_Missense_Mutation_p.K772N|SEC31A_ENST00000326950.5_Missense_Mutation_p.K772N|SEC31A_ENST00000395310.2_Missense_Mutation_p.K811N|SEC31A_ENST00000311785.7_Missense_Mutation_p.K811N|SEC31A_ENST00000513858.1_Missense_Mutation_p.K772N|SEC31A_ENST00000508479.1_Missense_Mutation_p.K811N|SEC31A_ENST00000505472.1_Missense_Mutation_p.K811N|SEC31A_ENST00000264405.5_Missense_Mutation_p.K544N|SEC31A_ENST00000355196.2_Missense_Mutation_p.K811N|SEC31A_ENST00000509142.1_Missense_Mutation_p.K811N|SEC31A_ENST00000508502.1_Missense_Mutation_p.K811N|SEC31A_ENST00000505984.1_Missense_Mutation_p.K772N|SEC31A_ENST00000500777.2_Missense_Mutation_p.K772N|SEC31A_ENST00000448323.1_Missense_Mutation_p.K811N|SEC31A_ENST00000443462.2_Missense_Mutation_p.K806N O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 811 Interaction with PDCD6.|Pro-rich. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) CAGGCCTGCCCTTGGGGAGCT 0.488000 28 118 1.88708e-17 2.38063e-17 0.729181 1 0 TRPC4 7223 broad.mit.edu 37 13 38266248 38266248 + Missense_Mutation SNP C C G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr13:38266248C>G ENST00000379705.3 - 4 1979 c.1122G>C c.(1120-1122)ttG>ttC p.L374F TRPC4_ENST00000338947.5_Missense_Mutation_p.L201F|TRPC4_ENST00000447043.1_Missense_Mutation_p.L374F|TRPC4_ENST00000379679.1_Missense_Mutation_p.L201F|TRPC4_ENST00000355779.2_Missense_Mutation_p.L374F|TRPC4_ENST00000426868.2_Missense_Mutation_p.L374F|TRPC4_ENST00000358477.2_Missense_Mutation_p.L374F|TRPC4_ENST00000379673.2_Missense_Mutation_p.L374F|TRPC4_ENST00000379681.3_Missense_Mutation_p.L374F Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 374 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) ACAAAAAAGTCAAATAGGAGG 0.483000 18 65 0 0 0.592651 0 0 ZIK1 284307 broad.mit.edu 37 19 58102416 58102416 + Missense_Mutation SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr19:58102416G>A ENST00000597850.1 + 4 1452 c.1237G>A c.(1237-1239)Ggg>Agg p.G413R ZIK1_ENST00000536878.2_Missense_Mutation_p.G400R|ZIK1_ENST00000599456.1_Missense_Mutation_p.G358R|ZIK1_ENST00000307468.4_3'UTR NM_001010879.2 NP_001010879.2 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 1 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TGGTGACTGTGGGAAATCCTT 0.458000 16 77 0 0 0.479597 0 0 FBN2 2201 broad.mit.edu 37 5 127670537 127670537 + Splice_Site SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr5:127670537C>A ENST00000508053.1 - 37 4948 c.e37-1 FBN2_ENST00000507835.1_Splice_Site|FBN2_ENST00000508989.1_Splice_Site|FBN2_ENST00000262464.4_Splice_Site P35556 FBN2_HUMAN fibrillin 2 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TCATTGACATCTAGAAAATTT 0.348000 4 102 0.184627 0.189243 0.184627 1 0 GRM1 2911 broad.mit.edu 37 6 146755141 146755141 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr6:146755141C>A ENST00000361719.2 + 9 3264 c.2794C>A c.(2794-2796)Ccc>Acc p.P932T GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P932T NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 932 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CGTCATCAAGCCCCTCACTAA 0.557000 33 136 7.11191e-15 8.70413e-15 0.769981 1 0 TBR1 10716 broad.mit.edu 37 2 162274270 162274270 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr2:162274270C>T ENST00000389554.3 + 2 1093 c.776C>T c.(775-777)gCg>gTg p.A259V NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 259 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.A259V(1) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 GTGATTTTGGCGGATCCCAAT 0.423000 4 231 0 0 0.150653 0 0 ZNF536 9745 broad.mit.edu 37 19 30936347 30936347 + Missense_Mutation SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr19:30936347G>A ENST00000355537.3 + 2 2025 c.1878G>A c.(1876-1878)atG>atA p.M626I NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 626 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CTGGGAACATGAAGGAGAAGC 0.597000 58 222 0 0 0.870114 0 0 WNK4 65266 broad.mit.edu 37 17 40948502 40948502 + Missense_Mutation SNP T T A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr17:40948502T>A ENST00000246914.5 + 18 3656 c.3635T>A c.(3634-3636)aTc>aAc p.1212_1212insN NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 0 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CTCCCAGGCATCATGCGAAGG 0.647000 22 67 0 0 0.693898 0 0 BTAF1 9044 broad.mit.edu 37 10 93748998 93748998 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr10:93748998C>A ENST00000265990.6 + 20 2823 c.2515C>A c.(2515-2517)Caa>Aaa p.Q839K BTAF1_ENST00000471217.1_3'UTR NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 839 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) ACAGCAGGTCCAAATGACAGT 0.418000 10 78 7.48243e-07 8.40492e-07 0.335167 1 0 APOBEC3B 9582 broad.mit.edu 37 22 39385564 39385564 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr22:39385564C>A ENST00000402182.3 + 5 727 c.672C>A c.(670-672)gaC>gaA p.D224E APOBEC3B_ENST00000333467.3_Missense_Mutation_p.D224E|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.D224E Q9UH17 ABC3B_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B 224 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 13 Melanoma(58;0.04) AGCGCCTGGACAATGGCACCT 0.562000 17 70 1.67942e-08 1.93961e-08 0.539581 1 0 KRTAP13-3 337960 broad.mit.edu 37 21 31798152 31798152 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr21:31798152C>A ENST00000390690.2 - 1 134 c.79G>T c.(79-81)Ggc>Tgc p.G27C NM_181622.1 NP_853653.1 Q3SY46 KR133_HUMAN keratin associated protein 13-3 27 intermediate filament endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 14 TAGGAAGAGCCACAGGAGGAG 0.567000 34 136 2.20474e-14 2.67835e-14 0.788014 1 0 TP53 7157 broad.mit.edu 37 17 7576853 7576853 + Splice_Site SNP C C T rs11575996 TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr17:7576853C>T ENST00000420246.2 - 9 1125 c.993_splice c.e9+1 p.Q331_splice TP53_ENST00000455263.2_Splice_Site_p.Q331_splice|TP53_ENST00000445888.2_Splice_Site_p.Q331_splice|TP53_ENST00000359597.4_Splice_Site_p.Q331_splice|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Splice_Site_p.Q331_splice NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 331 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.0?(8)|p.Q331H(7)|p.Q331P(2)|p.Q331fs*6(1)|p.I332fs*49(1)|p.?(1)|p.Q331Q(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) GACTTAGTACCTGAAGGGTGA 0.453000 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) 56 79 0 0 0.870114 0 0 NME7 29922 broad.mit.edu 37 1 169200035 169200035 + Missense_Mutation SNP G G C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr1:169200035G>C ENST00000367811.3 - 10 1167 c.911C>G c.(910-912)tCt>tGt p.S304C NME7_ENST00000472647.1_Missense_Mutation_p.S268C NM_013330.3 NP_037462.1 Q9Y5B8 NDK7_HUMAN NME/NM23 family member 7 304 CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process centrosome ATP binding|metal ion binding|nucleoside diphosphate kinase activity central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1) 16 all_hematologic(923;0.208) ACAAGGGCCAGAATACATTTC 0.323000 29 54 0 0 0.779181 0 0 CACNA1D 776 broad.mit.edu 37 3 53699745 53699745 + Silent SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr3:53699745C>A ENST00000288139.3 + 6 943 c.825C>A c.(823-825)gcC>gcA p.A275A CACNA1D_ENST00000350061.5_Silent_p.A275A|CACNA1D_ENST00000422281.2_Silent_p.A275A NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 275 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TTCACATAGCCCTTTTGGTAT 0.353000 36 148 1.04594e-18 1.32972e-18 0.819951 1 0 MDGA2 161357 broad.mit.edu 37 14 47426789 47426789 + Missense_Mutation SNP A A C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr14:47426789A>C ENST00000426342.1 - 9 1729 c.983T>G c.(982-984)gTc>gGc p.V328G MDGA2_ENST00000357362.3_Missense_Mutation_p.V328G|MDGA2_ENST00000399232.2_Missense_Mutation_p.V626G|MDGA2_ENST00000439988.2_Missense_Mutation_p.V557G NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 557 Ig-like 3. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 ACTCATAGTGACACTTCGATC 0.458000 28 118 0 0 0.729181 0 0 TMEM71 137835 broad.mit.edu 37 8 133764056 133764056 + Missense_Mutation SNP C C A rs111461300 byFrequency TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr8:133764056C>A ENST00000356838.3 - 4 431 c.289G>T c.(289-291)Gtt>Ttt p.V97F TMEM71_ENST00000377901.4_Missense_Mutation_p.V97F|TMEM71_ENST00000523829.1_Missense_Mutation_p.V97F|TMEM71_ENST00000517538.1_5'UTR NM_144649.2 NP_653250.2 Q6P5X7 TMM71_HUMAN transmembrane protein 71 97 integral to membrane endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) TTATACATAACGCTGGTCTGG 0.398000 54 233 3.21867e-24 4.2229e-24 0.870114 1 0 ACSM2B 348158 broad.mit.edu 37 16 20554262 20554262 + Missense_Mutation SNP T T G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr16:20554262T>G ENST00000329697.6 - 12 1651 c.1483A>C c.(1483-1485)Agc>Cgc p.S495R ACSM2B_ENST00000567001.1_Missense_Mutation_p.S495R|ACSM2B_ENST00000565322.1_Missense_Mutation_p.S416R|ACSM2B_ENST00000565232.1_Missense_Mutation_p.S495R NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 495 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 TCTGGGCTGCTGATCACAGCC 0.537000 18 92 0 0 0.575678 0 0 RASSF4 83937 broad.mit.edu 37 10 45480280 45480280 + Missense_Mutation SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr10:45480280G>A ENST00000374417.2 + 5 435 c.301G>A c.(301-303)Gga>Aga p.G101R RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000334940.6_Silent_p.E140E|RASSF4_ENST00000340258.4_Silent_p.E131E Q9H2L5 RASF4_HUMAN Ras association (RalGDS/AF-6) domain family member 4 101 cell cycle|signal transduction protein binding NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 AGGAGGCAGAGGAGGCCCCCC 0.667000 26 205 0 0 0.706142 0 0 KDM6B 23135 broad.mit.edu 37 17 7755572 7755572 + Silent SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr17:7755572G>A ENST00000254846.5 + 19 4775 c.4386G>A c.(4384-4386)gtG>gtA p.V1462V KDM6B_ENST00000448097.2_Silent_p.V1462V NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 1462 JmjC. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 GAGACCTCGTGTGGATTAATG 0.607000 OREG0024145 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 106 0 0 0.788014 0 0 GYPE 2996 broad.mit.edu 37 4 144826671 144826671 + Translation_Start_Site SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr4:144826671C>T ENST00000358615.4 - 0 41 GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame NM_198682.2 NP_941391.2 P15421 GLPE_HUMAN glycophorin E (MNS blood group) integral to plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 all_hematologic(180;0.158) CCTGAGATCACGAGCTGGCTC 0.398000 4 80 0 0 0.150653 0 0 CALCA 796 broad.mit.edu 37 11 14989331 14989331 + Missense_Mutation SNP G G T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr11:14989331G>T ENST00000361010.3 - 4 371 c.297C>A c.(295-297)agC>agA p.S99R CALCA_ENST00000486207.1_Missense_Mutation_p.S99R|CALCB_ENST00000523376.1_Intron NM_001033953.2 NP_001029125.1 P06881 CALCA_HUMAN calcitonin-related polypeptide alpha 99 activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation cytosol|extracellular space hormone activity central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 8 Phentolamine(DB00692) CCCCTGATCTGCTCAGCAAGC 0.542000 27 81 3.01185e-09 3.50314e-09 0.667858 1 0 SIRPD 128646 broad.mit.edu 37 20 1532406 1532406 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr20:1532406C>T ENST00000381623.3 - 2 1541 c.352G>A c.(352-354)Gtg>Atg p.V118M SIRPD_ENST00000381621.1_Missense_Mutation_p.V118M Q9H106 SIRPD_HUMAN signal-regulatory protein delta 118 Ig-like V-type. extracellular region breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1) 15 ATGAACTTCACGCAGTAATAG 0.488000 22 100 0 0 0.608945 0 0 CNTLN 54875 broad.mit.edu 37 9 17236462 17236462 + Missense_Mutation SNP A A T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr9:17236462A>T ENST00000380647.3 + 5 809 c.725A>T c.(724-726)aAt>aTt p.N242I CNTLN_ENST00000380641.4_Missense_Mutation_p.N242I|CNTLN_ENST00000425824.1_Missense_Mutation_p.N242I|CNTLN_ENST00000262360.5_Missense_Mutation_p.N242I Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 242 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) GTTATAAAAAATCTGGAGGAG 0.378000 30 142 0 0 0.740014 0 0 SPRTN 83932 broad.mit.edu 37 1 231488769 231488769 + Missense_Mutation SNP T T C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr1:231488769T>C ENST00000295050.7 + 5 1468 c.1132T>C c.(1132-1134)Tcc>Ccc p.S378P SPRTN_ENST00000391858.4_3'UTR NM_001010984.2|NM_032018.5 NP_001010984.1|NP_114407.3 SprT-like N-terminal domain TTCTAAGATATCCCTAAGAAA 0.418000 25 77 0 0 0.639603 0 0 ZNF418 147686 broad.mit.edu 37 19 58438767 58438767 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr19:58438767C>A ENST00000396147.1 - 4 1073 c.782G>T c.(781-783)gGa>gTa p.G261V ZNF418_ENST00000599852.1_Missense_Mutation_p.G176V|ZNF418_ENST00000425570.3_Missense_Mutation_p.G282V|ZNF418_ENST00000595830.1_Missense_Mutation_p.G261V|ZNF418_ENST00000600989.1_Intron NM_133460.1 NP_597717.1 Q8TF45 ZN418_HUMAN zinc finger protein 418 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) CCCACATTCTCCACATTCATA 0.418000 15 210 1.3612e-06 1.51862e-06 0.479597 1 0 BTBD9 114781 broad.mit.edu 37 6 38256211 38256211 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr6:38256211C>A ENST00000481247.1 - 8 1442 c.1291G>T c.(1291-1293)Gct>Tct p.A431S BTBD9_ENST00000314100.6_Missense_Mutation_p.A363S|BTBD9_ENST00000403056.1_Missense_Mutation_p.A431S|BTBD9_ENST00000408958.1_Missense_Mutation_p.A363S|BTBD9_ENST00000419706.2_Missense_Mutation_p.A401S NM_001099272.1|NM_052893.1 NP_001092742.1|NP_443125.1 Q96Q07 BTBD9_HUMAN BTB (POZ) domain containing 9 431 cell adhesion breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 12 GCACAATCAGCAATTGTTGCA 0.428000 18 75 5.35267e-07 6.05405e-07 0.557998 1 0 RPS10P7 376693 broad.mit.edu 37 1 201489431 201489431 + RNA SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr1:201489431C>A ENST00000441932.1 + 0 1601 RP11-134G8.7_ENST00000454651.1_RNA NR_026667.1 TGATTACCTTCATCTGCCCTC 0.537000 6 16 3.59834e-05 3.93418e-05 0.217242 1 0 ALPK1 80216 broad.mit.edu 37 4 113359713 113359713 + Missense_Mutation SNP G G C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr4:113359713G>C ENST00000458497.1 + 13 3541 c.3262G>C c.(3262-3264)Gca>Cca p.A1088P ALPK1_ENST00000177648.9_Missense_Mutation_p.A1088P|ALPK1_ENST00000504176.2_Missense_Mutation_p.A1010P NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 1088 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) ACAGATGACCGCACAGCACTA 0.428000 39 151 0 0 0.819951 0 0 DEPDC7 91614 broad.mit.edu 37 11 33054967 33054967 + Missense_Mutation SNP A A T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr11:33054967A>T ENST00000311388.3 + 9 1851 c.1475A>T c.(1474-1476)cAc>cTc p.H492L DEPDC7_ENST00000241051.3_Missense_Mutation_p.H501L NM_139160.2 NP_631899.2 Q96QD5 DEPD7_HUMAN DEP domain containing 7 501 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 17 TATAAGTGTCACCCAGACATC 0.299000 35 108 0 0 0.796494 0 0 MDC1 9656 broad.mit.edu 37 6 30680344 30680344 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr6:30680344C>T ENST00000376406.3 - 5 2022 c.1375G>A c.(1375-1377)Gag>Aag p.E459K MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.E459K NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 459 Required for nuclear localization (NLS1). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 AGCTCTTCCTCCTCCACGTCT 0.493000 Other conserved DNA damage response genes 35 133 0 0 0.796494 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890513 23890513 + Missense_Mutation SNP T T A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr15:23890513T>A ENST00000532292.1 - 1 662 c.568A>T c.(568-570)Acc>Tcc p.T190S NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) AACTGGGAGGTAGCTGGGAAG 0.582000 19 79 0 0 0.575678 0 0 SDC2 6383 broad.mit.edu 37 8 97614673 97614673 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr8:97614673C>T ENST00000302190.4 + 3 1144 c.223C>T c.(223-225)Cca>Tca p.P75S SDC2_ENST00000518385.1_Missense_Mutation_p.P39S|SDC2_ENST00000522911.1_Missense_Mutation_p.P46S|SDC2_ENST00000519914.1_Missense_Mutation_p.P46S NM_002998.3 NP_002989.2 P34741 SDC2_HUMAN syndecan 2 75 integral to plasma membrane cytoskeletal protein binding|PDZ domain binding breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2) 16 Breast(36;3.41e-05) Sargramostim(DB00020) TCGACCACTTCCAAAGATACT 0.448000 36 148 0 0 0.769981 0 0 CCL1 6346 broad.mit.edu 37 17 32688914 32688914 + Splice_Site SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr17:32688914C>T ENST00000225842.3 - 2 147 c.76_splice c.e2-1 p.M26_splice NM_002981.1 NP_002972.1 P22362 CCL1_HUMAN chemokine (C-C motif) ligand 1 26 cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction extracellular space chemokine activity Ovarian(249;0.0443)|Breast(31;0.133) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155) AGGGTACCTGCACTAGAAGAG 0.453000 OREG0024322 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 130 0 0 0.819951 0 0 SLC43A3 29015 broad.mit.edu 37 11 57176684 57176684 + Silent SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr11:57176684G>A ENST00000395123.2 - 13 1639 c.1335C>T c.(1333-1335)acC>acT p.T445T SLC43A3_ENST00000395124.1_Silent_p.T445T|SLC43A3_ENST00000352187.1_Silent_p.T445T|SLC43A3_ENST00000533524.1_Silent_p.T458T|SLC43A3_ENST00000529554.1_Silent_p.T445T|RP11-872D17.8_ENST00000529411.1_Silent_p.T89T NM_001278201.1|NM_014096.2 NP_001265130.1|NP_054815.2 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 445 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 CTTTGATGAGGGTGAAGATGG 0.567000 45 168 0 0 0.853193 0 0 ARID2 196528 broad.mit.edu 37 12 46244170 46244170 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr12:46244170C>T ENST00000334344.6 + 15 2436 c.2264C>T c.(2263-2265)aCa>aTa p.T755I ARID2_ENST00000422737.1_Missense_Mutation_p.T606I|ARID2_ENST00000444670.1_Missense_Mutation_p.T365I|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 755 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) CAACCTGTTACAGTTGTGAAT 0.478000 """N, S, F""" hepatocellular carcinoma 20 87 0 0 0.575678 0 0 OR52E4 390081 broad.mit.edu 37 11 5905705 5905705 + Missense_Mutation SNP G G T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr11:5905705G>T ENST00000316987.2 + 1 205 c.183G>T c.(181-183)atG>atT p.M61I NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCAGCCCATGTTCTACTTCC 0.433000 71 251 4.98926e-31 6.65235e-31 0.870114 1 0 KLHL28 54813 broad.mit.edu 37 14 45403630 45403630 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr14:45403630C>A ENST00000396128.4 - 3 1150 c.1031G>T c.(1030-1032)cGt>cTt p.R344L KLHL28_ENST00000355081.2_Missense_Mutation_p.R358L NM_017658.3 NP_060128.2 Q9NXS3 KLH28_HUMAN kelch-like family member 28 344 p.R344H(1) breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 GACGCCAGGACGCACATTAGT 0.393000 74 98 2.10328e-26 2.78176e-26 0.870114 1 0 IGSF9B 22997 broad.mit.edu 37 11 133815961 133815961 + Missense_Mutation SNP T T A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr11:133815961T>A ENST00000321016.8 - 2 487 c.257A>T c.(256-258)tAt>tTt p.Y86F IGSF9B_ENST00000533871.2_Missense_Mutation_p.Y86F Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 86 Ig-like 1. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CTTACCTGCATACTCAGGGTC 0.612000 4 9 0 0 0.184627 0 0 ZNF83 55769 broad.mit.edu 37 19 53116711 53116711 + Silent SNP A A G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr19:53116711A>G ENST00000597597.1 - 2 3360 c.1107T>C c.(1105-1107)ggT>ggC p.G369G ZNF83_ENST00000391789.4_Silent_p.G341G|ZNF83_ENST00000301096.3_Silent_p.G369G|ZNF83_ENST00000544146.1_Silent_p.G369G|ZNF83_ENST00000541777.2_Silent_p.G369G|ZNF83_ENST00000536937.1_Silent_p.G369G|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Silent_p.G369G|ZNF83_ENST00000601257.1_Intron P51522 ZNF83_HUMAN zinc finger protein 83 369 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) AAGGTTTCTCACCGGCATGAA 0.393000 57 199 0 0 0.870114 0 0 DPEP3 64180 broad.mit.edu 37 16 68012506 68012506 + Silent SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr16:68012506G>A ENST00000268793.4 - 3 886 c.513C>T c.(511-513)tgC>tgT p.C171C DPEP3_ENST00000574342.1_5'UTR NM_001129758.1|NM_022357.3 NP_001123230.1|NP_071752.3 Q9H4B8 DPEP3_HUMAN dipeptidase 3 146 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) CCTGGGACTGGCATGAGACGG 0.612000 4 171 0 0 0.150653 0 0 IMMP2L 83943 broad.mit.edu 37 7 110303688 110303688 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr7:110303688C>A ENST00000405709.2 - 6 940 c.498G>T c.(496-498)gaG>gaT p.E166D IMMP2L_ENST00000452895.1_Missense_Mutation_p.E166D|IMMP2L_ENST00000450877.1_Missense_Mutation_p.E148D|IMMP2L_ENST00000331762.3_Missense_Mutation_p.E166D|IMMP2L_ENST00000415362.1_Missense_Mutation_p.E166D|IMMP2L_ENST00000489381.1_5'UTR NM_032549.3 NP_115938.1 Q96T52 IMP2L_HUMAN IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) 166 protein processing involved in protein targeting to mitochondrion|proteolysis integral to membrane|mitochondrial inner membrane peptidase complex|nucleus serine-type peptidase activity p.E166E(1) endometrium(3)|large_intestine(6)|lung(5) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173) CTGGTAAGCGCTCTGGAGGAA 0.493000 33 110 2.08457e-15 2.57044e-15 0.750413 1 0 NPHP3 27031 broad.mit.edu 37 3 132413714 132413714 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr3:132413714C>A ENST00000337331.5 - 16 2353 c.2267G>T c.(2266-2268)cGg>cTg p.R756L NPHP3_ENST00000326682.8_3'UTR NM_153240.4 NP_694972.3 Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 756 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CATGGACTCCCGGATAGAGTG 0.373000 31 157 8.88839e-20 1.13883e-19 0.750413 1 0 CHL1 10752 broad.mit.edu 37 3 384665 384665 + Splice_Site SNP A A T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr3:384665A>T ENST00000256509.2 + 8 1321 c.e8-1 CHL1_ENST00000397491.2_Intron NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TTTTTATTTCAGTAAAGCATG 0.328000 20 77 0 0 0.557998 0 0 BPHL 670 broad.mit.edu 37 6 3129325 3129325 + Missense_Mutation SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr6:3129325G>A ENST00000380368.2 + 5 1018 c.374G>A c.(373-375)gGc>gAc p.G125D BPHL_ENST00000380379.5_Missense_Mutation_p.G142D|BPHL_ENST00000434640.1_Missense_Mutation_p.G125D|BPHL_ENST00000380375.3_Missense_Mutation_p.G125D Q86WA6 BPHL_HUMAN biphenyl hydrolase-like (serine hydrolase) 142 cellular amino acid metabolic process|response to toxin mitochondrion hydrolase activity p.G125D(1) endometrium(4)|kidney(1)|large_intestine(2)|lung(6) 13 Ovarian(93;0.0386) all_hematologic(90;0.108) AGTGATGGGGGCATAACCGCA 0.488000 4 164 0 0 0.150653 0 0 EDC4 23644 broad.mit.edu 37 16 67911296 67911296 + Missense_Mutation SNP A A T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr16:67911296A>T ENST00000358933.5 + 5 867 c.628A>T c.(628-630)Aat>Tat p.N210Y EDC4_ENST00000574770.1_3'UTR NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 210 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) GGCTCTGGTTAATGGCAAAAT 0.567000 25 65 0 0 0.681144 0 0 PREX2 80243 broad.mit.edu 37 8 69028102 69028102 + Silent SNP T T C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr8:69028102T>C ENST00000288368.4 + 26 3538 c.3261T>C c.(3259-3261)ttT>ttC p.F1087F NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1087 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GGGTATGTTTTAATGTAGCAG 0.383000 33 163 0 0 0.760397 0 0 MTR 4548 broad.mit.edu 37 1 237044136 237044136 + Splice_Site SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr1:237044136G>A ENST00000366577.5 + 25 3070 c.2676_splice c.e25+1 p.V892_splice MTR_ENST00000535889.1_Splice_Site_p.V841_splice NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 892 B12-binding. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) GTGTGGTGGTGGTAAGTGGGT 0.408000 3 65 0 0 0.115264 0 0 C9orf135 138255 broad.mit.edu 37 9 72472845 72472845 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr9:72472845C>T ENST00000377197.3 + 4 488 c.401C>T c.(400-402)aCa>aTa p.T134I C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Missense_Mutation_p.T134I NM_001010940.1 NP_001010940.1 Q5VTT2 CI135_HUMAN chromosome 9 open reading frame 135 134 integral to membrane endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 TTGCCTGCCACAGGTTTTGGA 0.368000 71 129 0 0 0.870114 0 0 BCL9L 283149 broad.mit.edu 37 11 118779003 118779003 + Missense_Mutation SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr11:118779003G>A ENST00000334801.3 - 2 1352 c.388C>T c.(388-390)Cca>Tca p.P130S BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 130 negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) TCCAGGGATGGGGTCCCAGCC 0.592000 21 98 0 0 0.575678 0 0 ISL1 3670 broad.mit.edu 37 5 50687247 50687247 + Missense_Mutation SNP A A T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr5:50687247A>T ENST00000230658.7 + 5 1490 c.905A>T c.(904-906)gAc>gTc p.D302V ISL1_ENST00000511384.1_Missense_Mutation_p.D279V|ISL1_ENST00000505475.2_3'UTR NM_002202.2 NP_002193.2 P61371 ISL1_HUMAN ISL LIM homeobox 1 302 Gln-rich. generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(810;0.000845)|Breast(144;0.0411) TTGCAGAGTGACATAGATCAG 0.498000 25 77 0 0 0.706142 0 0 SNHG14 104472715 broad.mit.edu 37 15 25296663 25296663 + RNA SNP A A G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr15:25296663A>G ENST00000549804.2 + 0 98 SNHG14_ENST00000547292.1_RNA|SNORD116-1_ENST00000384335.1_RNA|SNHG14_ENST00000552781.1_RNA TTCCTTGGAAAAGCTGAACAA 0.488000 44 168 0 0 0.864702 0 0 NPHP4 261734 broad.mit.edu 37 1 6038470 6038470 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr1:6038470C>T ENST00000378156.4 - 3 404 c.139G>A c.(139-141)Gtg>Atg p.V47M NPHP4_ENST00000478423.2_Intron NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephronophthisis 4 47 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) ACCTCCAGCACGCCCTAGGAG 0.557000 3 16 0 0 0.115264 0 0 STEAP3 55240 broad.mit.edu 37 2 120003448 120003448 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr2:120003448C>T ENST00000354888.5 + 3 880 c.376C>T c.(376-378)Cgt>Tgt p.R126C STEAP3_ENST00000450943.2_Missense_Mutation_p.R126C|STEAP3_ENST00000393108.2_Missense_Mutation_p.R126C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393110.2_Missense_Mutation_p.R136C|STEAP3_ENST00000425223.2_Missense_Mutation_p.R126C|STEAP3_ENST00000409811.1_Missense_Mutation_p.R126C|STEAP3_ENST00000393106.2_Missense_Mutation_p.R126C|STEAP3_ENST00000393107.2_Missense_Mutation_p.R126C NM_182915.2 NP_878919.2 Q658P3 STEA3_HUMAN STEAP family member 3, metalloreductase 126 apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 17 CCTTCAGCATCGTGAGTCCAA 0.582000 7 136 0 0 0.248553 0 0 SERPINI1 5274 broad.mit.edu 37 3 167525118 167525118 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr3:167525118C>A ENST00000295777.5 + 6 1399 c.968C>A c.(967-969)aCa>aAa p.T323K SERPINI1_ENST00000488374.1_3'UTR|SERPINI1_ENST00000446050.2_Missense_Mutation_p.T323K NM_005025.4 NP_005016.1 Q99574 NEUS_HUMAN serpin peptidase inhibitor, clade I (neuroserpin), member 1 323 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2) 20 GCAAATTTGACAGGCCTCTCT 0.303000 26 129 1.85244e-09 2.17e-09 0.654019 1 0 NALCN 259232 broad.mit.edu 37 13 101763549 101763549 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr13:101763549C>T ENST00000251127.6 - 19 2302 c.2221G>A c.(2221-2223)Gga>Aga p.G741R NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 741 integral to membrane sodium channel activity|voltage-gated ion channel activity p.G741R(1) NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TCAAATGATCCGCTCAGCATG 0.493000 69 201 0 0 0.870114 0 0 BICC1 80114 broad.mit.edu 37 10 60546842 60546842 + Splice_Site SNP G G C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr10:60546842G>C ENST00000373886.3 + 5 550 c.e5+1 NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 AAGCAACCAGGTGGTTTGTCT 0.353000 5 72 0 0 0.184627 0 0 NOTCH1 4851 broad.mit.edu 37 9 139401756 139401756 + Splice_Site SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr9:139401756C>T ENST00000277541.6 - 22 3719 c.e22+1 NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.?(4) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GCGGCCCTTACCCTGAGTGCC 0.692000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 24 49 0 0 0.667858 0 0 CDH9 1007 broad.mit.edu 37 5 26988326 26988326 + Missense_Mutation SNP C C G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr5:26988326C>G ENST00000231021.4 - 2 287 c.115G>C c.(115-117)Ggt>Cgt p.G39R NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 39 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TTTGTCAGACCCGCTATCTTT 0.393000 32 73 0 0 0.740014 0 0 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr11:115080343G>T ENST00000537058.1 - 8 1049 c.1029C>A c.(1027-1029)acC>acA p.T343T CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000452722.2_Silent_p.T343T Q9BY67 CADM1_HUMAN cell adhesion molecule 1 343 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.T343T(5) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.433000 6 81 0.0215528 0.0228042 0.217242 1 0 LRIG3 121227 broad.mit.edu 37 12 59274631 59274631 + Missense_Mutation SNP T T C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr12:59274631T>C ENST00000320743.3 - 13 1819 c.1533A>G c.(1531-1533)atA>atG p.I511M LRIG3_ENST00000379141.4_Missense_Mutation_p.I451M NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 511 Ig-like C2-type 1. integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) TGGAACCTTTTATTGCCGACT 0.433000 T ROS1 NSCLC 69 196 0 0 0.870114 0 0 ABCA13 154664 broad.mit.edu 37 7 48413965 48413965 + Missense_Mutation SNP T T G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr7:48413965T>G ENST00000435803.1 + 34 11179 c.11155T>G c.(11155-11157)Ttt>Gtt p.F3719V NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3719 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GACAACCGCCTTTGGACAAGG 0.413000 5 19 0 0 0.248553 0 0 TTK 7272 broad.mit.edu 37 6 80720550 80720550 + Silent SNP A A G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr6:80720550A>G ENST00000509894.1 + 5 1318 c.489A>G c.(487-489)aaA>aaG p.K163K TTK_ENST00000230510.3_Silent_p.K163K|TTK_ENST00000369798.2_Silent_p.K163K P33981 TTK_HUMAN TTK protein kinase 163 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) AAAAAAGTAAACAACTTCTTC 0.398000 21 51 0 0 0.608945 0 0 MICAL1 64780 broad.mit.edu 37 6 109773738 109773738 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr6:109773738C>T ENST00000368952.4 - 5 999 c.709G>A c.(709-711)Gca>Aca p.A237T MICAL1_ENST00000358577.3_Missense_Mutation_p.A218T|MICAL1_ENST00000358807.3_Missense_Mutation_p.A218T Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 218 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) TTACCTCCTGCAGCCGAGATA 0.557000 15 43 0 0 0.539581 0 0 DMBT1 1755 broad.mit.edu 37 10 124399561 124399561 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr10:124399561C>A ENST00000368909.3 + 52 6667 c.6561C>A c.(6559-6561)gaC>gaA p.D2187E DMBT1_ENST00000368956.2_Missense_Mutation_p.D1559E|DMBT1_ENST00000338354.3_Missense_Mutation_p.D2187E|DMBT1_ENST00000368955.3_Missense_Mutation_p.D2177E|DMBT1_ENST00000344338.3_Missense_Mutation_p.D2177E|DMBT1_ENST00000359586.6_Missense_Mutation_p.D907E|DMBT1_ENST00000330163.4_Missense_Mutation_p.D1559E NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2187 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) CCTAGGCAGACAATGACACCA 0.527000 3 75 0.004672 0.00497538 0.115264 1 0 SPATA16 83893 broad.mit.edu 37 3 172835423 172835423 + Silent SNP G G C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr3:172835423G>C ENST00000351008.3 - 2 282 c.99C>G c.(97-99)acC>acG p.T33T NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 33 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) GGTGCGCTAAGGTGGACATTT 0.403000 207 423 0 0 0.870114 0 0 LPCAT2 54947 broad.mit.edu 37 16 55583314 55583314 + Splice_Site SNP A A G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr16:55583314A>G ENST00000262134.5 + 10 1245 c.1061_splice c.e10+1 p.K354_splice NM_017839.4 NP_060309.2 Q7L5N7 PCAT2_HUMAN lysophosphatidylcholine acyltransferase 2 354 cellular membrane organization|platelet activating factor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 12 CGAAAATTGAAGTAAGTGTAT 0.363000 26 99 0 0 0.667858 0 0 A2M 2 broad.mit.edu 37 12 9256907 9256907 + Silent SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr12:9256907G>A ENST00000318602.7 - 11 1501 c.1194C>T c.(1192-1194)acC>acT p.T398T NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 398 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) GCTCATCCGTGGTAGCATTGG 0.413000 8 31 0 0 0.278610 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 4 100 0 0 0.150653 0 0 ZNF236 7776 broad.mit.edu 37 18 74671751 74671751 + Missense_Mutation SNP C C G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr18:74671751C>G ENST00000253159.8 + 29 5413 c.5215C>G c.(5215-5217)Cgc>Ggc p.R1739G ZNF236_ENST00000320610.9_Missense_Mutation_p.R1741G NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 1739 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CCAGCTGGAGCGCCACAGCCG 0.502000 14 65 0 0 0.479597 0 0 ATP10B 23120 broad.mit.edu 37 5 159992486 159992486 + Silent SNP G G T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr5:159992486G>T ENST00000327245.5 - 26 5206 c.4360C>A c.(4360-4362)Cga>Aga p.R1454R NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 1454 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(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTCTGGGATCGGCGATGGCTG 0.527000 37 100 1.42033e-22 1.83413e-22 0.796494 1 0 TPD52L3 89882 broad.mit.edu 37 9 6330998 6330998 + Silent SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr9:6330998G>A ENST00000314556.3 + 2 582 c.390G>A c.(388-390)acG>acA p.T130T NM_001001874.2 NP_001001874.1 Q96J77 TPD55_HUMAN tumor protein D52-like 3 0 protein binding p.T130T(2) large_intestine(1)|lung(9)|skin(1) 11 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1) ATAAATACACGTTAAATCAAG 0.313000 23 118 0 0 0.667858 0 0 FIGN 55137 broad.mit.edu 37 2 164467772 164467772 + Silent SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr2:164467772G>A ENST00000333129.3 - 3 884 c.570C>T c.(568-570)aaC>aaT p.N190N FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 190 nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 AATATGATCCGTTGTATCCTG 0.502000 8 69 0 0 0.335167 0 0 PLSCR2 57047 broad.mit.edu 37 3 146171942 146171942 + Silent SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr3:146171942G>A ENST00000497985.1 - 7 988 c.549C>T c.(547-549)atC>atT p.I183I PLSCR2_ENST00000336685.2_Silent_p.I110I NM_001199978.1 NP_001186907.1 Q9NRY7 PLS2_HUMAN phospholipid scramblase 2 110 phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity endometrium(2)|large_intestine(5)|lung(7)|stomach(1) 15 GAGGAGCTTGGATTTCTATCT 0.328000 14 56 0 0 0.435327 0 0 NADSYN1 55191 broad.mit.edu 37 11 71185480 71185480 + Missense_Mutation SNP G G T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr11:71185480G>T ENST00000319023.2 + 9 894 c.706G>T c.(706-708)Gac>Tac p.D236Y NM_018161.4 NP_060631.2 Q6IA69 NADE_HUMAN NAD synthetase 1 236 CN hydrolase. NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 25 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GAAGGGTTGTGACGGGGACCG 0.557000 18 132 5.45727e-16 6.78024e-16 0.729181 1 0 ZNF423 23090 broad.mit.edu 37 16 49671562 49671562 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr16:49671562C>T ENST00000561648.1 - 4 1554 c.1501G>A c.(1501-1503)Gtc>Atc p.V501I ZNF423_ENST00000563137.2_Missense_Mutation_p.V441I|ZNF423_ENST00000262383.2_Missense_Mutation_p.V501I|ZNF423_ENST00000562871.1_Missense_Mutation_p.V441I|ZNF423_ENST00000562520.1_Missense_Mutation_p.V441I|ZNF423_ENST00000535559.1_Missense_Mutation_p.V384I|ZNF423_ENST00000567169.1_Missense_Mutation_p.V384I NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 501 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.V501I(2) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) CAGTGGGAGACGCGGATGTGC 0.562000 6 75 0 0 0.248553 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072997 17072997 + Silent SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr22:17072997G>A ENST00000359963.3 - 1 703 c.444C>T c.(442-444)ccC>ccT p.P148P NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 148 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TGGCCAGGGAGGGCAGTGTGG 0.637000 8 48 0 0 0.307466 0 0 ADC 113451 broad.mit.edu 37 1 33583674 33583675 + Frame_Shift_Ins INS - - C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr1:33583674_33583675insC ENST00000294517.6 + 11 1788_1789 c.1201_1202insC c.(1201-1203)ccafs p.P401fs ADC_ENST00000398167.1_Frame_Shift_Ins_p.P421fs|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_Frame_Shift_Ins_p.P401fs|ADC_ENST00000373441.1_Frame_Shift_Ins_p.P421fs NM_052998.2 NP_443724.1 Q96A70 ADC_HUMAN arginine decarboxylase 401 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) CTTTTGGGGGACCCAGGCCTGC 0.624 11 74 --- --- --- --- COL24A1 255631 broad.mit.edu 37 1 86591796 86591796 + Frame_Shift_Del DEL C C - TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr1:86591796delC ENST00000370571.2 - 3 589 c.223delG c.(223-225)tcfs p.V75fs COL24A1_ENST00000436319.1_Frame_Shift_Del_p.V75fs NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 75 TSP N-terminal. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) GTTAAATGGACCCCCTGAGGT 0.428 7 101 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186276284 186276286 + In_Frame_Del DEL CTC CTC - rs145095882 byFrequency TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr1:186276284_186276286delCTC ENST00000445192.2 + 7 1478_1480 c.1433_1435delCTC c.(1432-1437)acc>a p.TP478del PRG4_ENST00000367486.3_In_Frame_Del_p.TP435del|PRG4_ENST00000367483.4_In_Frame_Del_p.TP437del|PRG4_ENST00000367485.4_In_Frame_Del_p.TP385del|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 478 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.P479delP(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 GCACCCACCACTCCCAAAGAGCC 0.650 11 97 --- --- --- --- NR4A2 4929 broad.mit.edu 37 2 157182714 157182715 + Frame_Shift_Ins INS - - A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr2:157182714_157182715insA ENST00000339562.4 - 7 1849_1850 c.1487_1488insT c.(1486-1488)aaafs p.K496fs NR4A2_ENST00000409572.1_Frame_Shift_Ins_p.K496fs|NR4A2_ENST00000539077.1_Frame_Shift_Ins_p.K507fs|NR4A2_ENST00000409108.2_Frame_Shift_Ins_p.*T461fs|NR4A2_ENST00000426264.1_Frame_Shift_Ins_p.K433fs|NR4A2_ENST00000429376.1_Frame_Shift_Ins_p.*T398fs NM_006186.3 NP_006177.1 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 496 cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 40 TGTCGATGTTCATATTCTGCAA 0.515 22 71 --- --- --- --- SLC51A 200931 broad.mit.edu 37 3 195955100 195955102 + In_Frame_Del DEL CTG CTG - TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr3:195955100_195955102delCTG ENST00000296327.5 + 5 686_688 c.477_479delCTG c.(475-480)ccc>cc p.PC159del NM_152672.5 NP_689885.4 solute carrier family 51, alpha subunit ACACAGGCCCctgctgctgctgc 0.665 9 248 --- --- --- --- RP11-6N13.1 0 broad.mit.edu 37 5 103978776 103978779 + RNA DEL GAAG GAAG - rs60977525 TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr5:103978776_103978779delGAAG ENST00000503650.1 - 0 328 agagagaaaagaaggaaggaagga 0.348 3 4 --- --- --- --- TRBV7-1 28597 broad.mit.edu 37 7 142032162 142032163 + RNA DEL GA GA - TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr7:142032162_142032163delGA ENST00000547918.2 + 0 82 atgtgtgtgtgAGAGAGAGAGA 0.505 4 9 --- --- --- --- FABP5P3 220832 broad.mit.edu 37 7 152140120 152140121 + RNA INS - - T rs112177366 TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr7:152140120_152140121insT ENST00000477993.1 + 0 875_876 NR_002935.1 CTGTTTCTTTCTTTTTTTTTTC 0.327 3 3 --- --- --- --- RUNX1T1 862 broad.mit.edu 37 8 93017415 93017415 + Frame_Shift_Del DEL G G - TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr8:93017415delG ENST00000523629.1 - 6 1123 c.669delC c.(667-669)acfs p.T224fs RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.T197fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.T197fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.T235fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.T187fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.T224fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.T187fs|RUNX1T1_ENST00000521553.1_Frame_Shift_Del_p.T187fs|RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.T187fs NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 224 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.T223T(1)|p.T186T(1)|p.T234T(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) CAGGTGAGGTGGTGCTGGCAT 0.592 41 197 --- --- --- --- LURAP1L 286343 broad.mit.edu 37 9 12775861 12775862 + In_Frame_Ins INS - - GGCGGC rs3833707 by1000genomes TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr9:12775861_12775862insGGCGGC ENST00000319264.3 + 1 842_843 c.147_148insGGCGGC c.(145-150)gggcgg>ggGGCGGCgcgg p.49_50GR>GAAR RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR NM_203403.1 NP_981948.1 Q8IV03 CI150_HUMAN leucine rich adaptor protein 1-like 49 Gly-rich. Missing. p.G49_G50insGGG(2)|p.G50_G52delGGG(1) gcggtggtggtggcggcggcgg 0.688 3 4 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651199 1651228 + In_Frame_Del DEL AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC - rs35089393 by1000genomes TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC ENST00000399676.2 + 1 167_196 c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC c.(127-159)ggg>gg p.GGCGGCGSGCA43del NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 43 G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ccggctgtggaggctgtgggggctgtggctccggctgtgcgggctgtggg 0.691 52 8 --- --- --- --- USP35 57558 broad.mit.edu 37 11 77921387 77921388 + Frame_Shift_Ins INS - - C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr11:77921387_77921388insC ENST00000529308.1 + 10 2747_2748 c.2486_2487insC c.(2485-2487)accfs p.T829fs USP35_ENST00000530267.1_Frame_Shift_Ins_p.T397fs|USP35_ENST00000526425.1_Frame_Shift_Ins_p.T560fs|USP35_ENST00000441408.2_Frame_Shift_Ins_p.T415fs|USP35_ENST00000530535.1_3'UTR NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 829 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) GACGTCTCCATCCCCCTGCTGC 0.634 18 170 --- --- --- --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr19:43969653_43969655delAGC ENST00000244333.3 - 1 157_159 c.69_71delGCT c.(67-72)ctt>ct p.LL23del NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 23 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACCTCCGCGAAGCAGCAGCAGCA 0.675 7 226 --- --- --- --- LILRB4 11006 broad.mit.edu 37 19 55179246 55179246 + Splice_Site DEL T T - rs139028841 byFrequency TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr19:55179246delT ENST00000391736.1 + 13 1515 c.e13+2 LILRB4_ENST00000270452.2_Splice_Site|LILRB4_ENST00000391733.3_Splice_Site|LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000430952.2_Splice_Site NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GACACTGAGGTGAGTCCTTTC 0.617 15 90 --- --- --- --- RPL23AP79 100271626 broad.mit.edu 37 19 59091278 59091279 + RNA INS - - TTCC rs10674364 TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr19:59091278_59091279insTTCC ENST00000493504.1 + 0 129 NR_026052.1 CTCTATTttctttccttccttc 0.446 3 5 --- --- --- --- ZBTB21 49854 broad.mit.edu 37 21 43413874 43413875 + Frame_Shift_Ins INS - - C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr21:43413874_43413875insC ENST00000310826.5 - 3 513_514 c.330_331insG c.(328-333)ggtttcfs p.GF110fs ZBTB21_ENST00000398505.3_Frame_Shift_Ins_p.GF110fs|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Frame_Shift_Ins_p.GF110fs|ZBTB21_ENST00000398499.1_Frame_Shift_Ins_p.GF110fs NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 AGAAAGGAAATCCCAAGACTAT 0.376 16 50 --- --- --- --- SLITRK4 139065 broad.mit.edu 37 X 142718162 142718163 + Frame_Shift_Ins INS - - T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chrX:142718162_142718163insT ENST00000381779.4 - 2 987_988 c.762_763insA c.(760-765)aaaaacfs p.N255fs SLITRK4_ENST00000338017.4_Frame_Shift_Ins_p.N255fs|SLITRK4_ENST00000356928.1_Frame_Shift_Ins_p.N255fs NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 255 LRRCT 1. integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TTGTTGGTTTCTTTTAAAAGCC 0.450 19 47 --- --- --- ---