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 FDFT1 2222 broad.mit.edu 37 8 11679320 11679320 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr8:11679320G>A ENST00000220584.4 + 4 665 c.443G>A c.(442-444)cGg>cAg p.R148Q FDFT1_ENST00000525777.1_Missense_Mutation_p.R63Q|FDFT1_ENST00000538689.1_Missense_Mutation_p.R37Q|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000443614.2_Intron|FDFT1_ENST00000528812.1_Missense_Mutation_p.R84Q|FDFT1_ENST00000528643.1_Missense_Mutation_p.R63Q|FDFT1_ENST00000525900.1_Missense_Mutation_p.R141Q|FDFT1_ENST00000530664.1_Missense_Mutation_p.R84Q NM_004462.3 NP_004453.3 P37268 FDFT_HUMAN farnesyl-diphosphate farnesyltransferase 1 148 cholesterol biosynthetic process|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2) 12 all_epithelial(15;0.234) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.18) GACATTTGCCGGAGAATGGGC 0.423000 4 200 0 0 0.009096 0 0 EPHA2 1969 broad.mit.edu 37 1 16464404 16464404 + Nonsense_Mutation SNP G G C TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr1:16464404G>C ENST00000358432.5 - 5 1410 c.1256C>G c.(1255-1257)tCa>tGa p.S419* NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 419 Fibronectin type-III 1. 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) TACCAGGCCTGAGACGCCATT 0.637000 38 36 0 0 0.023175 0 0 FAM84A 151354 broad.mit.edu 37 2 14774194 14774194 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr2:14774194G>A ENST00000295092.2 + 2 379 c.91G>A c.(91-93)Gtc>Atc p.V31I FAM84A_ENST00000331243.4_Missense_Mutation_p.V31I NM_145175.2 NP_660158.2 Q96KN4 FA84A_HUMAN family with sequence similarity 84, member A 31 endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(1;0.00969) CGAACTGCGGGTCGGGGTTGC 0.617000 3 56 0 0 0.004672 0 0 PRL 5617 broad.mit.edu 37 6 22294711 22294711 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr6:22294711C>T ENST00000306482.1 - 2 649 c.131G>A c.(130-132)cGa>cAa p.R44Q RP3-404K8.2_ENST00000561912.1_RNA NM_000948.5|NM_001163558.2 NP_000939.1|NP_001157030.1 P01236 PRL_HUMAN prolactin 44 cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth cytosol|extracellular region hormone activity|prolactin receptor binding NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1) 16 Ovarian(93;0.163) AAACAGGTCTCGAAGGGTCAC 0.602000 12 33 0 0 0.010729 0 0 MED13L 23389 broad.mit.edu 37 12 116457051 116457051 + Silent SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr12:116457051G>A ENST00000281928.3 - 7 1193 c.987C>T c.(985-987)acC>acT p.T329T NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 329 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GTTCTGGAGAGGTGGGAGGGG 0.542000 16 84 0 0 0.024245 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18473914 18473914 + Missense_Mutation SNP C C G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr12:18473914C>G ENST00000433979.1 + 7 1272 c.1156C>G c.(1156-1158)Cag>Gag p.Q386E PIK3C2G_ENST00000535651.1_Missense_Mutation_p.Q386E|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.Q386E|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.Q386E NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 386 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) GGACCACAGTCAGTTTTATCT 0.333000 6 34 0 0 0.003080 0 0 TM9SF3 56889 broad.mit.edu 37 10 98312702 98312702 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr10:98312702C>T ENST00000371142.4 - 6 991 c.775G>A c.(775-777)Gaa>Aaa p.E259K NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 259 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TCCATTTCTTCCTCTTTACTG 0.313000 16 45 0 0 0.004990 0 0 GCK 2645 broad.mit.edu 37 7 44185251 44185251 + Silent SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr7:44185251G>A ENST00000403799.3 - 9 1567 c.1098C>T c.(1096-1098)atC>atT p.I366I GCK_ENST00000437084.1_Silent_p.I349I|GCK_ENST00000345378.2_Silent_p.I367I|GCK_ENST00000395796.3_Silent_p.I365I NM_000162.3 NP_000153.1 P35557 HXK4_HUMAN glucokinase (hexokinase 4) 366 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 CGCGGCGCACGATGTCGCAGT 0.706000 7 23 0 0 0.003080 0 0 BCMO1 53630 broad.mit.edu 37 16 81295760 81295760 + Missense_Mutation SNP C C G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr16:81295760C>G ENST00000258168.2 + 4 804 c.343C>G c.(343-345)Cac>Gac p.H115D BCMO1_ENST00000425577.2_Missense_Mutation_p.H46D|BCMO1_ENST00000564552.1_Missense_Mutation_p.H115D NM_017429.2 NP_059125.2 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 1 115 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 CTACTTGTCTCACACCATCCC 0.468000 67 176 0 0 0.014410 0 0 CLSPN 63967 broad.mit.edu 37 1 36228069 36228069 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr1:36228069G>A ENST00000251195.5 - 5 854 c.758C>T c.(757-759)tCt>tTt p.S253F CLSPN_ENST00000520551.1_Missense_Mutation_p.S253F|CLSPN_ENST00000373220.3_Missense_Mutation_p.S253F|CLSPN_ENST00000318121.3_Missense_Mutation_p.S253F Q9HAW4 CLSPN_HUMAN claspin 253 activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm anaphase-promoting complex binding|DNA binding NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ACTCTCCAAAGATGGTTCTTT 0.398000 58 59 0 0 0.014410 0 0 ZNF844 284391 broad.mit.edu 37 19 12187275 12187275 + Missense_Mutation SNP G G C TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr19:12187275G>C ENST00000439326.3 + 4 1515 c.1340G>C c.(1339-1341)cGt>cCt p.R447P ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R447P(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GAGAGAAACCGTATGAGTGTA 0.433000 3 147 0 0 0.004672 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102509076 102509076 + Silent SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr14:102509076G>A ENST00000360184.4 + 69 12668 c.12504G>A c.(12502-12504)cgG>cgA p.R4168R RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 4168 AAA 6 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 CCGTCTCACGGATATGCAAGG 0.577000 47 45 0 0 0.014410 0 0 BRD8 10902 broad.mit.edu 37 5 137486496 137486496 + Missense_Mutation SNP C C G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr5:137486496C>G ENST00000254900.5 - 22 3429 c.3058G>C c.(3058-3060)Gag>Cag p.E1020Q NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 1020 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GAAGCCACCTCTGGCTTTCCA 0.463000 49 154 0 0 0.014410 0 0 BPIFA3 128861 broad.mit.edu 37 20 31812910 31812910 + Silent SNP C C T rs140343618 byFrequency TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr20:31812910C>T ENST00000375454.3 + 4 603 c.393C>T c.(391-393)ttC>ttT p.F131F BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Silent_p.F95F NM_178466.3 NP_848561.2 Q9BQP9 SPLC3_HUMAN BPI fold containing family A, member 3 131 extracellular region lipid binding GCAGGTCCTTCGATAACAACA 0.507000 28 92 0 0 0.006320 0 0 CACNG2 10369 broad.mit.edu 37 22 36960638 36960638 + Silent SNP C C A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr22:36960638C>A ENST00000300105.6 - 4 1713 c.732G>T c.(730-732)acG>acT p.T244T NM_006078.3 NP_006069.1 Q9Y698 CCG2_HUMAN calcium channel, voltage-dependent, gamma subunit 2 244 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 GTGAGGGCTCCGTGGAGCGCG 0.697000 35 101 9.84934e-19 1.08733e-18 0.010771 1 0 PCBP3 54039 broad.mit.edu 37 21 47350746 47350746 + Missense_Mutation SNP G G C TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr21:47350746G>C ENST00000400314.1 + 13 1181 c.843G>C c.(841-843)atG>atC p.M281I PCBP3_ENST00000400310.1_Intron|PCBP3_ENST00000449640.1_Missense_Mutation_p.M281I|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400304.1_Missense_Mutation_p.M271I|PCBP3_ENST00000400308.1_Missense_Mutation_p.M255I|PRED62_ENST00000593412.1_Intron|PCBP3_ENST00000400309.1_Missense_Mutation_p.M280I P57721 PCBP3_HUMAN poly(rC) binding protein 3 281 mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) aaaatctgatgggccagtcat 0.547000 17 38 0 0 0.008871 0 0 OR7G1 125962 broad.mit.edu 37 19 9226035 9226035 + Silent SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr19:9226035G>A ENST00000293614.1 - 1 404 c.405C>T c.(403-405)ctC>ctT p.L135L OR7G1_ENST00000541538.1_Silent_p.L135L Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, member 1 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 20 GGACATTCATGAGGACTGTGT 0.493000 28 98 0 0 0.006320 0 0 BCOR 54880 broad.mit.edu 37 X 39930340 39930340 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chrX:39930340C>T ENST00000342274.4 - 6 3486 c.3124G>A c.(3124-3126)Gag>Aag p.E1042K BCOR_ENST00000378444.4_Missense_Mutation_p.E1042K|BCOR_ENST00000378455.4_Missense_Mutation_p.E1024K|BCOR_ENST00000397354.3_Missense_Mutation_p.E1042K NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 1042 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 TTGCACATCTCGGAGTCTTTG 0.488000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 34 28 0 0 0.012213 0 0 ZBTB37 84614 broad.mit.edu 37 1 173842693 173842693 + Missense_Mutation SNP C C A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr1:173842693C>A ENST00000427304.1 + 4 1288 c.1012C>A c.(1012-1014)Ccc>Acc p.P338T ZBTB37_ENST00000432989.1_Missense_Mutation_p.P338T|ZBTB37_ENST00000367704.1_Intron|ZBTB37_ENST00000367702.1_Missense_Mutation_p.P338T|ZBTB37_ENST00000367701.4_Missense_Mutation_p.P338T NM_001122770.1 NP_001116242.1 Q5TC79 ZBT37_HUMAN zinc finger and BTB domain containing 37 338 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4) 13 GCCTAAGCAACCCAGCTCCCA 0.458000 14 66 6.72482e-11 7.14112e-11 0.024245 1 0 SATB1 6304 broad.mit.edu 37 3 18393545 18393545 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr3:18393545G>A ENST00000338745.6 - 10 3452 c.1718C>T c.(1717-1719)gCg>gTg p.A573V SATB1_ENST00000454909.2_Missense_Mutation_p.A573V|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.A573V NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 573 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 GTGATGCACCGCGTTGCTCTC 0.498000 37 112 0 0 0.025465 0 0 DIP2A 23181 broad.mit.edu 37 21 47969758 47969758 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr21:47969758C>T ENST00000318711.7 + 22 2783 c.2600C>T c.(2599-2601)tCg>tTg p.S867L DIP2A_ENST00000457905.3_Missense_Mutation_p.S866L|DIP2A_ENST00000427143.2_Missense_Mutation_p.S802L|DIP2A_ENST00000417564.2_Missense_Mutation_p.S866L|DIP2A_ENST00000400274.1_Missense_Mutation_p.S862L NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 866 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) CCGGATGCCTCGGAGGAGGAC 0.642000 37 118 0 0 0.021022 0 0 SEC14L2 23541 broad.mit.edu 37 22 30812008 30812008 + Silent SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr22:30812008C>T ENST00000312932.9 + 10 1103 c.843C>T c.(841-843)agC>agT p.S281S SEC14L2_ENST00000402592.3_Silent_p.S198S|SEC14L2_ENST00000403484.1_Silent_p.S207S|SEC14L2_ENST00000405717.3_Silent_p.S281S|RP4-539M6.19_ENST00000439838.1_Silent_p.S115S NM_012429.3 NP_036561.1 O76054 S14L2_HUMAN SEC14-like 2 (S. cerevisiae) 281 GOLD. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus phospholipid binding|transporter activity|vitamin E binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1) 10 Vitamin E(DB00163) ATGAACACAGCGTGCAGATTT 0.557000 30 110 0 0 0.009535 0 0 MRGPRF 116535 broad.mit.edu 37 11 68772961 68772961 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr11:68772961C>T ENST00000309099.6 - 3 1199 c.817G>A c.(817-819)Gag>Aag p.E273K MRGPRF_ENST00000441623.1_Missense_Mutation_p.E273K NM_145015.4 NP_659452.3 Q96AM1 MRGRF_HUMAN MAS-related GPR, member F 273 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|lung(4) 7 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GTGACGTACTCGGGGAAGGGG 0.612000 4 7 0 0 0.021553 0 0 HERC3 8916 broad.mit.edu 37 4 89583679 89583679 + Nonsense_Mutation SNP C C G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr4:89583679C>G ENST00000402738.1 + 11 1483 c.1244C>G c.(1243-1245)tCa>tGa p.S415* HERC3_ENST00000264345.3_Nonsense_Mutation_p.S415*|HERC3_ENST00000543130.1_Intron NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 415 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) CAAAAACTCTCAGAACACAAC 0.348000 21 55 0 0 0.018920 0 0 SPTA1 6708 broad.mit.edu 37 1 158650472 158650472 + Silent SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr1:158650472G>A ENST00000368148.3 - 5 759 c.579C>T c.(577-579)acC>acT p.T193T SPTA1_ENST00000368147.3_Silent_p.T193T NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 193 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GCAGAACTTCGGTGCGCTCCC 0.463000 36 125 0 0 0.015359 0 0 MST1L 11223 broad.mit.edu 37 1 17083837 17083837 + RNA SNP T T C rs7798 by1000genomes TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr1:17083837T>C ENST00000455405.2 - 0 751 CTAATTCCTTTCAGGACCCAG 0.572000 3 63 0 0 0.014758 0 0 ACTA1 58 broad.mit.edu 37 1 229567573 229567573 + Silent SNP C C A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr1:229567573C>A ENST00000366684.3 - 6 987 c.885G>T c.(883-885)ctG>ctT p.L295L ACTA1_ENST00000366683.2_Silent_p.L207L NM_001100.3 NP_001091.1 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 295 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton p.L295L(1) endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1) 28 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) TGTTGGCATACAGGTCCTTCC 0.597000 4 126 0.00116845 0.00120075 0.021553 1 0 CACNA1D 776 broad.mit.edu 37 3 53844075 53844075 + Nonsense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr3:53844075G>A ENST00000288139.3 + 48 6120 c.6002G>A c.(6001-6003)tGg>tAg p.W2001* CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.W1957*|CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.W1981*|CACNA1D_ENST00000544977.1_3'UTR NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1981 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) ACCCGGTCGTGGGCCACCCCT 0.612000 24 77 0 0 0.024334 0 0 DNAJC18 202052 broad.mit.edu 37 5 138773229 138773229 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr5:138773229C>T ENST00000302060.5 - 2 139 c.59G>A c.(58-60)aGa>aAa p.R20K NM_152686.3 NP_689899.1 Q9H819 DJC18_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 18 20 protein folding integral to membrane heat shock protein binding|unfolded protein binding endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TTTGTTTCTTCTAACTGCGTC 0.478000 25 96 0 0 0.024334 0 0 COL5A1 1289 broad.mit.edu 37 9 137591821 137591821 + Missense_Mutation SNP T T C TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr9:137591821T>C ENST00000371817.3 + 3 758 c.344T>C c.(343-345)tTc>tCc p.F115S COL5A1_ENST00000464187.1_3'UTR NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 115 Laminin G-like.|TSP N-terminal. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AGCCAGGCCTTCCTGGTCTCC 0.587000 30 93 0 0 0.008361 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672668 141672668 + Silent SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr7:141672668G>A ENST00000547270.1 - 1 905 c.822C>T c.(820-822)cgC>cgT p.R274R NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 274 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) CTATTTTGTCGCGCCACAGAA 0.502000 23 67 0 0 0.021523 0 0 CYP26A1 1592 broad.mit.edu 37 10 94834671 94834671 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr10:94834671C>T ENST00000371531.1 + 3 721 c.343C>T c.(343-345)Ctc>Ttc p.L115F CYP26A1_ENST00000394139.1_Missense_Mutation_p.L115F|CYP26A1_ENST00000224356.4_Missense_Mutation_p.L184F NM_057157.2 NP_476498.1 O43174 CP26A_HUMAN cytochrome P450, family 26, subfamily A, polypeptide 1 184 negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Colorectal(252;0.122) GGTGAAGCGCCTCATGTTCCG 0.652000 3 105 0 0 0.009096 0 0 CBR3 874 broad.mit.edu 37 21 37507579 37507579 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr21:37507579C>T ENST00000290354.5 + 1 370 c.89C>T c.(88-90)tCt>tTt p.S30F CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000453159.1_RNA NM_001236.3 NP_001227.1 O75828 CBR3_HUMAN carbonyl reductase 3 30 cytosol|nucleus carbonyl reductase (NADPH) activity|NADPH binding kidney(1)|large_intestine(1)|lung(1) 3 CGACAGTTCTCTGGGGATGTG 0.726000 3 13 0 0 0.004672 0 0 OR52B6 340980 broad.mit.edu 37 11 5602923 5602923 + Missense_Mutation SNP C C A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr11:5602923C>A ENST00000345043.2 + 1 817 c.817C>A c.(817-819)Cct>Act p.P273T HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA NM_001005162.2 NP_001005162.2 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, member 6 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTTCTATGTCCCTGCGCTTTT 0.517000 54 233 1.91123e-38 2.16347e-38 0.014410 1 0 MGAT4B 11282 broad.mit.edu 37 5 179228838 179228838 + Missense_Mutation SNP C C G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr5:179228838C>G ENST00000337755.5 - 1 1160 c.274G>C c.(274-276)Gaa>Caa p.E92Q MGAT4B_ENST00000521305.1_5'UTR|MGAT4B_ENST00000292591.7_Missense_Mutation_p.E77Q NM_054013.3 NP_463459.1 Q9UQ53 MGT4B_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B 77 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 13 all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCTGCCTTTCTGACACGGCC 0.672000 OREG0017110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 35 0 0 0.006214 0 0 IL18BP 10068 broad.mit.edu 37 11 71712615 71712615 + Missense_Mutation SNP G G C TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr11:71712615G>C ENST00000497194.2 + 4 1896 c.524G>C c.(523-525)aGa>aCa p.R175T IL18BP_ENST00000393707.4_Intron|IL18BP_ENST00000531053.1_Missense_Mutation_p.R175T|IL18BP_ENST00000337131.5_Intron|IL18BP_ENST00000404792.1_Intron|IL18BP_ENST00000393703.4_Intron|IL18BP_ENST00000260049.5_Intron|IL18BP_ENST00000393705.4_Intron O95998 I18BP_HUMAN interleukin 18 binding protein 0 T-helper 1 type immune response extracellular region interleukin-18 binding|receptor antagonist activity endometrium(2)|kidney(1)|large_intestine(3)|lung(1) 7 AGCCCAAGGAGAGGCCTCCAG 0.607000 4 19 0 0 0.009096 0 0 ITSN2 50618 broad.mit.edu 37 2 24521584 24521584 + Missense_Mutation SNP C C A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr2:24521584C>A ENST00000355123.4 - 13 1887 c.1444G>T c.(1444-1446)Gtc>Ttc p.V482F ITSN2_ENST00000361999.3_Missense_Mutation_p.V482F|ITSN2_ENST00000406921.3_Missense_Mutation_p.V482F NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 482 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTAACCTGACAATTTCTTCT 0.398000 36 135 4.11147e-13 4.47248e-13 0.017118 1 0 NFAT5 10725 broad.mit.edu 37 16 69681025 69681025 + Silent SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr16:69681025C>T ENST00000349945.1 + 5 1618 c.66C>T c.(64-66)acC>acT p.T22T NFAT5_ENST00000354436.2_Silent_p.T98T|NFAT5_ENST00000566899.1_Silent_p.T22T|NFAT5_ENST00000432919.1_Silent_p.T116T|NFAT5_ENST00000393742.2_Silent_p.T22T|NFAT5_ENST00000567239.1_Silent_p.T116T NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 98 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CCTCAGTCACCGACAGCAAGG 0.532000 96 302 0 0 0.014410 0 0 C17orf74 201243 broad.mit.edu 37 17 7329025 7329025 + Nonsense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr17:7329025G>A ENST00000333870.3 + 1 92 c.18G>A c.(16-18)tgG>tgA p.W6* RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Nonsense_Mutation_p.W6* NM_175734.4 NP_783861.3 Q0P670 CQ074_HUMAN chromosome 17 open reading frame 74 6 integral to membrane cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 22 Prostate(122;0.157) ACCAGCTATGGCATAACACCG 0.592000 65 170 0 0 0.014410 0 0 RPA1 6117 broad.mit.edu 37 17 1747221 1747221 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr17:1747221G>A ENST00000254719.5 + 3 202 c.92G>A c.(91-93)cGt>cAt p.R31H NM_002945.3 NP_002936.1 P27694 RFA1_HUMAN replication protein A1, 70kDa 31 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body metal ion binding|protein binding|single-stranded DNA binding breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2) 10 TAGAACATCCGTCCCATTACT 0.488000 Nucleotide excision repair (NER) 24 105 0 0 0.021523 0 0 KCNQ3 3786 broad.mit.edu 37 8 133144493 133144493 + Silent SNP G G C TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr8:133144493G>C ENST00000388996.4 - 14 2238 c.1818C>G c.(1816-1818)gcC>gcG p.A606A KCNQ3_ENST00000519445.1_Silent_p.A594A|KCNQ3_ENST00000521134.1_Silent_p.A486A NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 606 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TGGATGGTCTGGCTACATATG 0.403000 57 71 0 0 0.014410 0 0 PDE1A 5136 broad.mit.edu 37 2 183129053 183129053 + Missense_Mutation SNP C C G rs149743969 TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr2:183129053C>G ENST00000435564.1 - 2 390 c.190G>C c.(190-192)Gaa>Caa p.E64Q PDE1A_ENST00000331935.6_Missense_Mutation_p.E64Q|PDE1A_ENST00000409365.1_Missense_Mutation_p.E48Q|PDE1A_ENST00000358139.2_Missense_Mutation_p.E64Q|PDE1A_ENST00000456212.1_Missense_Mutation_p.E64Q|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000351439.5_Missense_Mutation_p.E48Q|PDE1A_ENST00000410103.1_Missense_Mutation_p.E64Q NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 64 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) TAAACTGCTTCCAGCACAGAT 0.378000 23 100 0 0 0.024334 0 0 TNFRSF11B 4982 broad.mit.edu 37 8 119938851 119938851 + Silent SNP G G A rs150457771 TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr8:119938851G>A ENST00000297350.4 - 4 1077 c.699C>T c.(697-699)aaC>aaT p.N233N NM_002546.3 NP_002537.3 O00300 TR11B_HUMAN tumor necrosis factor receptor superfamily, member 11b 233 Death 1. apoptosis|skeletal system development cytokine activity|receptor activity breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1) 25 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) CACTCTCTGCGTTTACTTTGG 0.443000 52 201 0 0 0.014410 0 0 CPM 1368 broad.mit.edu 37 12 69250409 69250409 + Missense_Mutation SNP C C G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr12:69250409C>G ENST00000551568.1 - 9 1200 c.1140G>C c.(1138-1140)gaG>gaC p.E380D CPM_ENST00000338356.3_Missense_Mutation_p.E380D|CPM_ENST00000546373.1_Missense_Mutation_p.E380D NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 380 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) TCTGGGATTTCTCCGGAATAA 0.408000 38 123 0 0 0.021022 0 0 SPRY1 10252 broad.mit.edu 37 4 124323279 124323279 + Missense_Mutation SNP A A G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr4:124323279A>G ENST00000394339.2 + 2 873 c.533A>G c.(532-534)aAg>aGg p.K178R SPRY1_ENST00000339241.1_Missense_Mutation_p.K178R NM_001258039.1|NM_005841.2 NP_001244968.1|NP_005832.1 O43609 SPY1_HUMAN sprouty homolog 1, antagonist of FGF signaling (Drosophila) 178 epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytosol|lamellipodium|plasma membrane NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3) 11 ACACAGCACAAGTTCATTTGT 0.527000 35 84 0 0 0.013726 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87459257 87459257 + Missense_Mutation SNP G G C TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr7:87459257G>C ENST00000338056.3 + 12 1745 c.1334G>C c.(1333-1335)aGt>aCt p.S445T RUNDC3B_ENST00000493037.1_Missense_Mutation_p.S379T|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.S428T NM_001134405.1|NM_138290.2 NP_001127877.1|NP_612147.1 Q96NL0 RUN3B_HUMAN RUN domain containing 3B 445 breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2) 26 Esophageal squamous(14;0.00164) TCAGTGGCAAGTTACAAGTCT 0.378000 55 163 0 0 0.014410 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751261 19751261 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr13:19751261C>T ENST00000400113.3 - 4 966 c.862G>A c.(862-864)Gtg>Atg p.V288M NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 288 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) ATCTCAGCCACGGACAGCTGC 0.607000 43 137 0 0 0.014410 0 0 THEMIS 387357 broad.mit.edu 37 6 128150927 128150927 + Missense_Mutation SNP G G T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr6:128150927G>T ENST00000368250.1 - 4 664 c.166C>A c.(166-168)Caa>Aaa p.Q56K THEMIS_ENST00000537166.1_Missense_Mutation_p.Q100K|THEMIS_ENST00000368248.2_Missense_Mutation_p.Q135K|THEMIS_ENST00000543064.1_Missense_Mutation_p.Q135K Q8N1K5 THMS1_HUMAN thymocyte selection associated 135 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 AGCATGATTTGCTCACCCTGC 0.403000 69 196 3.31162e-33 3.72975e-33 0.014410 1 0 SPDYE3 441272 broad.mit.edu 37 7 99917323 99917323 + Silent SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr7:99917323G>A ENST00000332397.6 + 9 1666 c.1482G>A c.(1480-1482)ccG>ccA p.P494P SPDYE3_ENST00000437326.2_Silent_p.P117P NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 494 endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 CCATGAACCCGAGGGCCAGGA 0.547000 37 118 0 0 0.017118 0 0 PSG11 5680 broad.mit.edu 37 19 43530465 43530465 + Silent SNP G G C TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr19:43530465G>C ENST00000401740.1 - 1 163 c.60C>G c.(58-60)ctC>ctG p.L20L PSG11_ENST00000320078.7_Silent_p.L20L|PSG11_ENST00000306322.7_Silent_p.L20L|PSG11_ENST00000403486.1_Silent_p.L20L Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 20 female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) CCTCACCTGTGAGCAGGAGCC 0.562000 46 204 0 0 0.014410 0 0 MTA3 57504 broad.mit.edu 37 2 42909708 42909708 + Missense_Mutation SNP C C A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr2:42909708C>A ENST00000405592.1 + 10 1372 c.702C>A c.(700-702)ttC>ttA p.F234L MTA3_ENST00000406652.1_Missense_Mutation_p.F234L|MTA3_ENST00000406911.1_Missense_Mutation_p.F290L|MTA3_ENST00000405094.1_Missense_Mutation_p.F290L|MTA3_ENST00000407270.3_Missense_Mutation_p.F290L Q9BTC8 MTA3_HUMAN metastasis associated 1 family, member 3 290 ELM2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1) 15 GCAAAGACTTCAATGACATAC 0.363000 4 16 0.00024832 0.000256367 0.009096 1 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 5 40 0 0 0.003080 0 0 ABCB6 10058 broad.mit.edu 37 2 220081144 220081144 + Nonsense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr2:220081144C>T ENST00000265316.3 - 4 1228 c.912G>A c.(910-912)tgG>tgA p.W304* ABCB6_ENST00000439002.2_Nonsense_Mutation_p.W258* NM_005689.2 NP_005680.1 Q9NP58 ABCB6_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 6 304 ABC transmembrane type-1. cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 34 Renal(207;0.0474) Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGGTAACAGTCCAGGCCAGAG 0.552000 18 95 0 0 0.010504 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64085080 64085080 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr3:64085080G>A ENST00000295902.6 - 8 2767 c.2182C>T c.(2182-2184)Cgc>Tgc p.R728C RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R784C|PRICKLE2-AS1_ENST00000476308.1_RNA NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 728 Arg-rich. cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) CTCCGCTGGCGCATAAATTGG 0.617000 4 104 0 0 0.009096 0 0 EIF4G2 1982 broad.mit.edu 37 11 10821202 10821202 + Missense_Mutation SNP T T C TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr11:10821202T>C ENST00000526148.1 - 19 2731 c.2221A>G c.(2221-2223)Ata>Gta p.I741V EIF4G2_ENST00000339995.5_Missense_Mutation_p.I741V|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.I703V|EIF4G2_ENST00000525681.1_Missense_Mutation_p.I741V NM_001172705.1 NP_001166176.1 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 gamma, 2 741 W2. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 43 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) TCCAACTTTATTTGCTTCAAC 0.368000 43 127 0 0 0.010771 0 0 DAB2 1601 broad.mit.edu 37 5 39382739 39382739 + Missense_Mutation SNP C C G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr5:39382739C>G ENST00000320816.6 - 10 1789 c.1322G>C c.(1321-1323)aGa>aCa p.R441T DAB2_ENST00000339788.6_Intron|DAB2_ENST00000545653.1_Missense_Mutation_p.R420T|DAB2_ENST00000509337.1_Missense_Mutation_p.R420T NM_001343.3 NP_001334.2 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 441 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) CCTTCTGCCTCTTCCTGGTTT 0.483000 45 149 0 0 0.013114 0 0 ITGAD 3681 broad.mit.edu 37 16 31404708 31404708 + Silent SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr16:31404708G>A ENST00000389202.2 + 1 76 c.27G>A c.(25-27)ctG>ctA p.L9L NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 9 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TGCTTCTTCTGAGTGGTAAGT 0.627000 62 159 0 0 0.014410 0 0 C10orf113 387638 broad.mit.edu 37 10 21435284 21435284 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr10:21435284G>A ENST00000529198.1 - 1 204 c.154C>T c.(154-156)Cca>Tca p.P52S C10orf113_ENST00000377118.4_Missense_Mutation_p.P42S|NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000534331.1_Missense_Mutation_p.P52S NM_001177483.1 NP_001170954.1 Q5VZT2 CJ113_HUMAN chromosome 10 open reading frame 113 52 endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1) 7 TTCATGTCTGGAATGTACATT 0.443000 31 106 0 0 0.010818 0 0 NOS2 4843 broad.mit.edu 37 17 26101285 26101285 + Missense_Mutation SNP G G T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr17:26101285G>T ENST00000313735.6 - 12 1707 c.1474C>A c.(1474-1476)Cag>Aag p.Q492K NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 492 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) CCCCTAACCTGATAGTAGTAG 0.547000 11 31 7.03913e-09 7.40436e-09 0.013537 1 0 VRK2 7444 broad.mit.edu 37 2 58350334 58350334 + Missense_Mutation SNP A A G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr2:58350334A>G ENST00000435505.2 + 11 1387 c.642A>G c.(640-642)atA>atG p.I214M VRK2_ENST00000412104.2_Missense_Mutation_p.I214M|VRK2_ENST00000440705.2_Missense_Mutation_p.I191M|VRK2_ENST00000340157.4_Missense_Mutation_p.I214M|VRK2_ENST00000417641.2_Missense_Mutation_p.I214M Q86Y07 VRK2_HUMAN vaccinia related kinase 2 214 Protein kinase. integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 24 ATGGGACAATAGAGTTTACCA 0.383000 3 203 0 0 0.009096 0 0 RASGRF2 5924 broad.mit.edu 37 5 80422959 80422959 + Missense_Mutation SNP C C A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr5:80422959C>A ENST00000265080.4 + 17 2730 c.2663C>A c.(2662-2664)gCa>gAa p.A888E NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 888 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) GCCACAGCTGCAGCAGGACAT 0.498000 10 53 1.61879e-10 1.71086e-10 0.013537 1 0 FCGBP 8857 broad.mit.edu 37 19 40392591 40392591 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr19:40392591C>T ENST00000221347.6 - 16 7920 c.7913G>A c.(7912-7914)gGg>gAg p.G2638E NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 2638 VWFD 6. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCCCTCGCTCCCCGGCGGGCA 0.667000 19 66 0 0 0.012319 0 0 DLC1 10395 broad.mit.edu 37 8 12957760 12957760 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr8:12957760C>T ENST00000276297.4 - 9 2495 c.2086G>A c.(2086-2088)Ggg>Agg p.G696R DLC1_ENST00000358919.2_Missense_Mutation_p.G259R|DLC1_ENST00000512044.2_Missense_Mutation_p.G293R|DLC1_ENST00000520226.1_Missense_Mutation_p.G185R NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 696 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 AAGATGGGCCCGCTGATGATC 0.572000 92 110 0 0 0.014410 0 0 EGR1 1958 broad.mit.edu 37 5 137802445 137802445 + Splice_Site SNP G G C TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr5:137802445G>C ENST00000239938.4 + 2 579 c.e2-1 NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) TCTCCTGCCAGAGTCTTTTCC 0.592000 68 280 0 0 0.014410 0 0 DNM3 26052 broad.mit.edu 37 1 172348185 172348185 + Missense_Mutation SNP G G C TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr1:172348185G>C ENST00000358155.4 + 18 2097 c.1921G>C c.(1921-1923)Gaa>Caa p.E641Q DNM3_ENST00000355305.5_Missense_Mutation_p.E647Q|DNM3_ENST00000367731.1_Missense_Mutation_p.E637Q NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 647 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 TGGACAAGCAGAAAACTTTTC 0.388000 13 36 0 0 0.016723 0 0 ZNF521 25925 broad.mit.edu 37 18 22805215 22805215 + Silent SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr18:22805215G>A ENST00000361524.3 - 4 2815 c.2667C>T c.(2665-2667)gaC>gaT p.D889D ZNF521_ENST00000584787.1_Silent_p.D669D|ZNF521_ENST00000538137.2_Silent_p.D889D NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 889 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) CCCCACAAATGTCGCAGCCGT 0.522000 T PAX5 ALL 27 67 0 0 0.007291 0 0 DDX60L 91351 broad.mit.edu 37 4 169341482 169341482 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr4:169341482G>A ENST00000511577.1 - 18 2691 c.2444C>T c.(2443-2445)aCg>aTg p.T815M DDX60L_ENST00000260184.7_Missense_Mutation_p.T815M|DDX60L_ENST00000505890.1_Missense_Mutation_p.T815M Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 815 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) GGCAGGCAACGTTTTAGTAAA 0.363000 5 31 0 0 0.014758 0 0 KRT12 3859 broad.mit.edu 37 17 39019389 39019389 + Silent SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr17:39019389G>A ENST00000251643.4 - 6 1325 c.1302C>T c.(1300-1302)gaC>gaT p.D434D RP5-1110E20.1_ENST00000579136.1_RNA NM_000223.3 NP_000214.1 Q99456 K1C12_HUMAN keratin 12 434 Coil 2.|Rod. visual perception intermediate filament structural molecule activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) GGGCCTCCCCGTCCAGCAGGC 0.612000 19 67 0 0 0.010504 0 0 HHIPL1 84439 broad.mit.edu 37 14 100119154 100119154 + Silent SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr14:100119154C>T ENST00000330710.5 + 2 947 c.849C>T c.(847-849)agC>agT p.S283S HHIPL1_ENST00000357223.2_Silent_p.S283S NM_001127258.1 NP_001120730.1 Q96JK4 HIPL1_HUMAN HHIP-like 1 283 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2) 15 Melanoma(154;0.128) TCCGCATCAGCGAGTTCAGAG 0.617000 18 53 0 0 0.012319 0 0 PRG2 5553 broad.mit.edu 37 11 57155245 57155245 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr11:57155245C>T ENST00000311862.5 - 5 665 c.592G>A c.(592-594)Gtg>Atg p.V198M PRG2_ENST00000533605.1_Missense_Mutation_p.V187M|PRG2_ENST00000525955.1_Missense_Mutation_p.V198M NM_001243245.1|NM_002728.4 NP_001230174.1|NP_002719.3 proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CACAGGGCCACGCAGTGACCA 0.617000 3 14 0 0 0.009096 0 0 RSPO2 340419 broad.mit.edu 37 8 108913336 108913336 + Missense_Mutation SNP G G T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr8:108913336G>T ENST00000276659.5 - 6 1319 c.699C>A c.(697-699)agC>agA p.S233R RSPO2_ENST00000517939.1_Missense_Mutation_p.S166R|RSPO2_ENST00000517781.1_Missense_Mutation_p.S169R|RSPO2_ENST00000378439.2_Missense_Mutation_p.S169R NM_178565.4 NP_848660.3 Q6UXX9 RSPO2_HUMAN R-spondin 2 233 Wnt receptor signaling pathway extracellular region heparin binding EIF3E/RSPO2(6) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 28 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) CTAGGAAGACGCTGTGTTGCT 0.433000 22 147 5.35356e-11 5.71217e-11 0.016522 1 0 TTN 7273 broad.mit.edu 37 2 179427722 179427722 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr2:179427722C>T ENST00000589042.1 - 326 83361 c.83137G>A c.(83137-83139)Gaa>Aaa p.E27713K TTN_ENST00000460472.2_Missense_Mutation_p.E18648K|TTN_ENST00000342992.6_Missense_Mutation_p.E25145K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18840K|TTN_ENST00000359218.5_Missense_Mutation_p.E18773K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E26072K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26072 Fibronectin type-III 102. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGAATGCCTTCTGCCTTTTCC 0.438000 30 131 0 0 0.008361 0 0 KLHL13 90293 broad.mit.edu 37 X 117033238 117033238 + Missense_Mutation SNP C C A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chrX:117033238C>A ENST00000371876.1 - 6 3869 c.1448G>T c.(1447-1449)gGa>gTa p.G483V KLHL13_ENST00000540167.1_Missense_Mutation_p.G518V|KLHL13_ENST00000371882.1_Missense_Mutation_p.G483V|KLHL13_ENST00000545703.1_Missense_Mutation_p.G492V|KLHL13_ENST00000539496.1_Missense_Mutation_p.G537V|KLHL13_ENST00000371878.1_Missense_Mutation_p.G483V|KLHL13_ENST00000262820.3_Missense_Mutation_p.G534V|KLHL13_ENST00000541812.1_Missense_Mutation_p.G518V|KLHL13_ENST00000469946.1_Missense_Mutation_p.G483V Q9P2N7 KLH13_HUMAN kelch-like family member 13 534 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 GAGCCTTTCTCCCACTGTACA 0.458000 175 184 1.12187e-70 1.28296e-70 0.014410 1 0 HIST1H1E 3008 broad.mit.edu 37 6 26156774 26156774 + Silent SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr6:26156774G>A ENST00000304218.3 + 1 216 c.156G>A c.(154-156)aaG>aaA p.K52K NM_005321.2 NP_005312.1 P10412 H14_HUMAN histone cluster 1, H1e 52 H15. nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 CCGCCTCCAAGGAGCGCAGCG 0.607000 7 56 0 0 0.001984 0 0 NDST3 9348 broad.mit.edu 37 4 119059259 119059259 + Silent SNP G G T rs142162150 TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr4:119059259G>T ENST00000296499.5 + 5 1678 c.1275G>T c.(1273-1275)tcG>tcT p.S425S NDST3_ENST00000433996.2_Silent_p.S344S NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 425 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity p.S425S(1) NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 CTCACCATTCGGGCGTCTACC 0.473000 32 119 6.03168e-27 6.75912e-27 0.021022 1 0 CNTNAP1 8506 broad.mit.edu 37 17 40842782 40842782 + Silent SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr17:40842782G>A ENST00000264638.4 + 13 2098 c.1881G>A c.(1879-1881)cgG>cgA p.R627R CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 627 Fibrinogen C-terminal. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) CAGTTGTGCGGCATGACAGGC 0.587000 4 209 0 0 0.009096 0 0 FAM196A 642938 broad.mit.edu 37 10 128974488 128974488 + Nonsense_Mutation SNP C C A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr10:128974488C>A ENST00000522781.1 - 4 727 c.172G>T c.(172-174)Gag>Tag p.E58* FAM196A_ENST00000424811.2_Nonsense_Mutation_p.E58*|DOCK1_ENST00000280333.6_Intron NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 58 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 TCCCTCTGCTCATTCTGTGCC 0.587000 56 187 4.00338e-15 4.37624e-15 0.014410 1 0 LILRA4 23547 broad.mit.edu 37 19 54849916 54849916 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr19:54849916C>T ENST00000291759.4 - 3 162 c.106G>A c.(106-108)Ggt>Agt p.G36S NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 36 Ig-like C2-type 1. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) ATCACGGGACCTGGCTCGGCC 0.572000 OREG0003656 type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 37 93 0 0 0.021022 0 0 PDZRN3 23024 broad.mit.edu 37 3 73433477 73433477 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr3:73433477G>A ENST00000263666.4 - 10 2354 c.2240C>T c.(2239-2241)cCg>cTg p.P747L PDZRN3_ENST00000535920.1_Missense_Mutation_p.P469L|PDZRN3_ENST00000466780.1_Missense_Mutation_p.P404L|PDZRN3_ENST00000479530.1_Missense_Mutation_p.P464L|PDZRN3_ENST00000462146.2_Missense_Mutation_p.P404L NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 747 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GGATTTCTCCGGGAGCTCGGT 0.612000 11 46 0 0 0.010729 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203821361 203821361 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr1:203821361G>A ENST00000545588.1 + 17 6094 c.2267G>A c.(2266-2268)cGa>cAa p.R756Q ZC3H11A_ENST00000367214.1_Missense_Mutation_p.R756Q|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.R756Q|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.R756Q|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.R756Q NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 756 nucleic acid binding|protein binding|zinc ion binding p.R756L(1) central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) AAAACTCGCCGACTCAGCTCT 0.507000 36 83 0 0 0.017118 0 0 KIAA1984 84960 broad.mit.edu 37 9 139701274 139701274 + Silent SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr9:139701274C>T ENST00000338005.6 + 12 1379 c.1344C>T c.(1342-1344)ctC>ctT p.L448L KIAA1984-AS1_ENST00000414656.1_RNA NM_001039374.4 NP_001034463.4 Q5T5S1 K1984_HUMAN KIAA1984 448 biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 13 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124) AGGGGAAGCTCACGTACCTGG 0.617000 11 50 0 0 0.008291 0 0 MAD1L1 8379 broad.mit.edu 37 7 2265120 2265120 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr7:2265120C>T ENST00000406869.1 - 4 773 c.216G>A c.(214-216)atG>atA p.M72I MAD1L1_ENST00000265854.7_Missense_Mutation_p.M72I|MAD1L1_ENST00000399654.2_Missense_Mutation_p.M72I|MAD1L1_ENST00000402746.1_Intron Q9Y6D9 MD1L1_HUMAN MAD1 mitotic arrest deficient-like 1 (yeast) 72 cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5) 36 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) GCTCCATCTGCATTTTCTCCC 0.587000 38 93 0 0 0.025465 0 0 PLEC 5339 broad.mit.edu 37 8 144991583 144991583 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr8:144991583C>T ENST00000322810.4 - 32 12986 c.12817G>A c.(12817-12819)Gtg>Atg p.V4273M PLEC_ENST00000345136.3_Missense_Mutation_p.V4136M|PLEC_ENST00000357649.2_Missense_Mutation_p.V4140M|PLEC_ENST00000356346.3_Missense_Mutation_p.V4122M|PLEC_ENST00000527096.1_Missense_Mutation_p.V4159M|PLEC_ENST00000354958.2_Missense_Mutation_p.V4114M|PLEC_ENST00000436759.2_Missense_Mutation_p.V4163M|PLEC_ENST00000398774.2_Missense_Mutation_p.V4104M|PLEC_ENST00000354589.3_Missense_Mutation_p.V4136M NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4273 Binding to intermediate filaments (By similarity).|Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CGCTTGCGCACGGAGGACTTG 0.617000 25 106 0 0 0.027356 0 0 DNMT3A 1788 broad.mit.edu 37 2 25467435 25467435 + Silent SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr2:25467435G>A ENST00000264709.3 - 14 1978 c.1641C>T c.(1639-1641)ctC>ctT p.L547L DNMT3A_ENST00000321117.5_Silent_p.L547L|DNMT3A_ENST00000380746.4_Silent_p.L358L|DNMT3A_ENST00000402667.1_Silent_p.L324L NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 547 ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity). regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTCCGCACATGAGCACCTCAC 0.632000 """Mis, F, N, S""" AML 15 49 0 0 0.004990 0 0 TMTC3 160418 broad.mit.edu 37 12 88589182 88589182 + Nonsense_Mutation SNP C C G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr12:88589182C>G ENST00000266712.6 + 14 2721 c.2501C>G c.(2500-2502)tCa>tGa p.S834* NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 835 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 AGTAAGATTTCAAGTGTGGAA 0.338000 97 120 0 0 0.014410 0 0 ERAP1 51752 broad.mit.edu 37 5 96136692 96136692 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr5:96136692G>A ENST00000296754.3 - 3 793 c.536C>T c.(535-537)tCa>tTa p.S179L ERAP1_ENST00000443439.2_Missense_Mutation_p.S179L NM_016442.3 NP_057526.3 Q9NZ08 ERAP1_HUMAN endoplasmic reticulum aminopeptidase 1 179 angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2) 19 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) AAATTGTGTTGATGCTAGTAT 0.378000 23 95 0 0 0.014323 0 0 SHPRH 257218 broad.mit.edu 37 6 146271470 146271470 + Missense_Mutation SNP C C G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr6:146271470C>G ENST00000367503.3 - 4 1310 c.912G>C c.(910-912)ttG>ttC p.L304F SHPRH_ENST00000275233.7_Missense_Mutation_p.L304F|SHPRH_ENST00000367505.2_Missense_Mutation_p.L304F|SHPRH_ENST00000438092.2_Missense_Mutation_p.L304F NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 304 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) GGTAGGGTCTCAACACAGGGA 0.433000 3 218 0 0 0.009096 0 0 TNFRSF1B 7133 broad.mit.edu 37 1 12251958 12251958 + Silent SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr1:12251958G>A ENST00000376259.3 + 4 524 c.435G>A c.(433-435)ccG>ccA p.P145P TNFRSF1B_ENST00000492361.1_3'UTR|TNFRSF1B_ENST00000536782.1_Silent_p.P145P NM_001066.2 NP_001057.1 P20333 TNR1B_HUMAN tumor necrosis factor receptor superfamily, member 1B 145 apoptosis extracellular region|integral to membrane|membrane raft|plasma membrane tumor necrosis factor receptor activity central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(185;0.249) Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284) Etanercept(DB00005)|Infliximab(DB00065) AGTGCCGCCCGGGCTTCGGCG 0.687000 30 19 0 0 0.013726 0 0 FCRLB 127943 broad.mit.edu 37 1 161693366 161693366 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr1:161693366C>T ENST00000367948.2 + 5 477 c.262C>T c.(262-264)Cgg>Tgg p.R88W FCRLB_ENST00000336830.5_Missense_Mutation_p.R88W|FCRLB_ENST00000367945.1_Missense_Mutation_p.R81W|FCRLB_ENST00000392158.1_Missense_Mutation_p.R88W|FCRLB_ENST00000367944.3_Missense_Mutation_p.R81W|FCRLB_ENST00000367946.3_Missense_Mutation_p.R88W Q6BAA4 FCRLB_HUMAN Fc receptor-like B 88 Ig-like C2-type 1. endoplasmic reticulum central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1) 17 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) ATGCCAGACACGGGGAGCACC 0.577000 30 65 0 0 0.007291 0 0 ADAR 103 broad.mit.edu 37 1 154574600 154574600 + Missense_Mutation SNP T T C TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr1:154574600T>C ENST00000368474.4 - 2 717 c.518A>G c.(517-519)aAt>aGt p.N173S ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.N216S NM_001111.4|NM_015840.3|NM_015841.3 NP_001102.2|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 173 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) TAAAACTCGATTGATTTCTTT 0.498000 81 275 0 0 0.014410 0 0 DYNC2H1 79659 broad.mit.edu 37 11 102988581 102988581 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr11:102988581C>T ENST00000375735.2 + 6 1132 c.988C>T c.(988-990)Cgc>Tgc p.R330C DYNC2H1_ENST00000334267.7_Missense_Mutation_p.R330C|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R330C NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 330 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) ACTTGGCAAACGCCTTGAAGA 0.333000 9 38 0 0 0.004482 0 0 LRRC47 57470 broad.mit.edu 37 1 3703592 3703592 + Missense_Mutation SNP C C G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr1:3703592C>G ENST00000378251.1 - 2 925 c.898G>C c.(898-900)Gac>Cac p.D300H NM_020710.2 NP_065761.1 Q8N1G4 LRC47_HUMAN leucine rich repeat containing 47 300 translation phenylalanine-tRNA ligase activity|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21) all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) tctcccacgtcctgctcctcc 0.657000 17 14 0 0 0.006122 0 0 PHKB 5257 broad.mit.edu 37 16 47694703 47694703 + Silent SNP C C G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr16:47694703C>G ENST00000455779.1 + 23 2333 c.2148C>G c.(2146-2148)ccC>ccG p.P716P PHKB_ENST00000323584.5_Silent_p.P723P|PHKB_ENST00000566044.1_Silent_p.P716P|PHKB_ENST00000299167.8_Silent_p.P723P Q93100 KPBB_HUMAN phosphorylase kinase, beta 723 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1) 41 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) AGGACAAACCCACCCACGAAA 0.488000 28 137 0 0 0.027356 0 0 ZNF283 284349 broad.mit.edu 37 19 44341279 44341279 + Silent SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr19:44341279G>A ENST00000324461.7 + 6 582 c.285G>A c.(283-285)agG>agA p.R95R ZNF283_ENST00000310738.8_Silent_p.R59R|ZNF283_ENST00000593164.1_Silent_p.R70R|ZNF283_ENST00000590950.1_Silent_p.R70R|ZNF283_ENST00000588797.1_Intron|ZNF283_ENST00000586976.1_3'UTR|ZNF283_ENST00000593268.1_Silent_p.R95R NM_181845.1 NP_862828.1 Q8N7M2 ZN283_HUMAN zinc finger protein 283 95 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) CTGCTCAGAGGGACTTGTACG 0.463000 39 86 0 0 0.023175 0 0 F2RL1 2150 broad.mit.edu 37 5 76128686 76128686 + Missense_Mutation SNP T T C TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr5:76128686T>C ENST00000296677.4 + 2 460 c.254T>C c.(253-255)gTg>gCg p.V85A NM_005242.4 NP_005233.3 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 85 blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 13 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) TACACAATTGTGTTTGTGGTG 0.463000 59 189 0 0 0.014410 0 0 CYP2R1 120227 broad.mit.edu 37 11 14902248 14902248 + Missense_Mutation SNP C C G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr11:14902248C>G ENST00000334636.5 - 3 480 c.434G>C c.(433-435)cGa>cCa p.R145P CYP2R1_ENST00000526489.1_5'UTR|CYP2R1_ENST00000532378.1_Intron NM_024514.4 NP_078790.2 Q6VVX0 CP2R1_HUMAN cytochrome P450, family 2, subfamily R, polypeptide 1 145 hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Cholecalciferol(DB00169)|Ergocalciferol(DB00153) TCCAAAATATCGAAAACTGTT 0.323000 12 58 0 0 0.024245 0 0 ERBB4 2066 broad.mit.edu 37 2 212488710 212488710 + Missense_Mutation SNP C C G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr2:212488710C>G ENST00000342788.4 - 18 2449 c.2139G>C c.(2137-2139)ttG>ttC p.L713F ERBB4_ENST00000402597.1_Missense_Mutation_p.L703F|ERBB4_ENST00000436443.1_Missense_Mutation_p.L713F NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 713 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CAGTTTCTTTCAAAATACGAA 0.403000 TSP Lung(8;0.080) 24 71 0 0 0.018920 0 0 CYP11B1 1584 broad.mit.edu 37 8 143956467 143956467 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr8:143956467C>T ENST00000292427.4 - 8 1336 c.1304G>A c.(1303-1305)gGc>gAc p.G435D CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_Missense_Mutation_p.G506D NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 435 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GAAGTTCCTGCCGGAGCCCCT 0.637000 Familial Hyperaldosteronism type I 59 110 0 0 0.014410 0 0 PHLDB1 23187 broad.mit.edu 37 11 118506147 118506147 + Missense_Mutation SNP G G C TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr11:118506147G>C ENST00000361417.2 + 11 2827 c.2416G>C c.(2416-2418)Gag>Cag p.E806Q PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.E806Q NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 806 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) AAAGCTCTTTGAGGACTTGGA 0.637000 46 149 0 0 0.013114 0 0 SPATA25 128497 broad.mit.edu 37 20 44515723 44515723 + Silent SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr20:44515723C>T ENST00000372519.3 - 2 161 c.117G>A c.(115-117)gtG>gtA p.V39V NM_080608.3 NP_542175.1 Q9BR10 CT165_HUMAN spermatogenesis associated 25 39 integral to membrane CACCAGAGGCCACCACCACTG 0.607000 36 102 0 0 0.021022 0 0 PURB 5814 broad.mit.edu 37 7 44924866 44924866 + Nonsense_Mutation SNP C C A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr7:44924866C>A ENST00000395699.2 - 1 94 c.82G>T c.(82-84)Gag>Tag p.E28* NM_033224.3 NP_150093.1 Q96QR8 PURB_HUMAN purine-rich element binding protein B 28 regulation of myeloid cell differentiation DNA replication factor A complex mRNA binding|single-stranded DNA binding|transcription factor binding large_intestine(2)|lung(3)|prostate(1)|skin(1) 7 GTCTCTTGCTCGCCGCCGCCG 0.692000 4 12 2.0095e-06 2.09401e-06 0.001984 1 0 RECQL 5965 broad.mit.edu 37 12 21626554 21626554 + Missense_Mutation SNP G G C TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr12:21626554G>C ENST00000444129.2 - 12 1846 c.1378C>G c.(1378-1380)Caa>Gaa p.Q460E RECQL_ENST00000421138.2_Missense_Mutation_p.Q460E NM_002907.3|NM_032941.2 NP_002898.2|NP_116559.1 P46063 RECQ1_HUMAN RecQ protein-like (DNA helicase Q1-like) 460 DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 TCAAAATGTTGAGCCATCAAC 0.323000 Other identified genes with known or suspected DNA repair function 17 57 0 0 0.012319 0 0 ABHD15 116236 broad.mit.edu 37 17 27889909 27889909 + Silent SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr17:27889909G>A ENST00000307201.4 - 2 1247 c.1077C>T c.(1075-1077)gaC>gaT p.D359D RP11-68I3.2_ENST00000581474.1_RNA NM_198147.2 NP_937790.2 Q6UXT9 ABH15_HUMAN abhydrolase domain containing 15 359 extracellular region carboxylesterase activity breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 10 ACACGGGGTCGTCAGCACTGC 0.602000 12 101 0 0 0.016723 0 0 RAP1B 5908 broad.mit.edu 37 12 69042539 69042539 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr12:69042539G>A ENST00000250559.9 + 2 266 c.35G>A c.(34-36)gGa>gAa p.G12E RAP1B_ENST00000543697.1_Missense_Mutation_p.G12E|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000542145.1_Missense_Mutation_p.G12E|RAP1B_ENST00000393436.5_Missense_Mutation_p.G12E|RAP1B_ENST00000541216.1_Missense_Mutation_p.G12E|RAP1B_ENST00000540209.1_Missense_Mutation_p.G12E|RAP1B_ENST00000539091.1_Missense_Mutation_p.G12E|RAP1B_ENST00000537460.1_Missense_Mutation_p.G12E|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000450214.2_Missense_Mutation_p.G12E|RAP1B_ENST00000378985.3_Intron|RAP1B_ENST00000341355.5_Missense_Mutation_p.G12E NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5 NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1 P61224 RAP1B_HUMAN RAP1B, member of RAS oncogene family 12 blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion cell-cell junction|cytosol GDP binding|GTP binding|GTPase activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2) 12 Breast(13;1.24e-05) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) GBM - Glioblastoma multiforme(7;0.000306) CTTGGCTCAGGAGGCGTTGGA 0.363000 27 46 0 0 0.009535 0 0 NOP14 8602 broad.mit.edu 37 4 2948177 2948177 + Missense_Mutation SNP C C G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr4:2948177C>G ENST00000416614.2 - 11 1662 c.1597G>C c.(1597-1599)Gag>Cag p.E533Q NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000314262.6_Missense_Mutation_p.E533Q|NOP14_ENST00000502735.1_Missense_Mutation_p.E533Q|NOP14_ENST00000398071.4_Missense_Mutation_p.E533Q|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000507702.1_RNA P78316 NOP14_HUMAN NOP14 nucleolar protein 533 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 30 CCTTTGGTCTCAATCATTTCT 0.488000 29 81 0 0 0.015359 0 0 NIPAL4 348938 broad.mit.edu 37 5 156895764 156895764 + Silent SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr5:156895764C>T ENST00000311946.7 + 4 671 c.555C>T c.(553-555)taC>taT p.Y185Y NIPAL4_ENST00000435489.2_Silent_p.Y166Y|ADAM19_ENST00000430702.2_Intron NM_001099287.1 NP_001092757.1 Q0D2K0 NIPA4_HUMAN NIPA-like domain containing 4 185 integral to membrane receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1) 22 TTGGAGCCTACGCATTTGCAC 0.507000 36 96 0 0 0.021022 0 0 MYO15A 51168 broad.mit.edu 37 17 18022599 18022599 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr17:18022599G>A ENST00000205890.5 + 2 823 c.485G>A c.(484-486)cGc>cAc p.R162H NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 162 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TGGCTGCAGCGCTCGAGCTCC 0.677000 11 65 0 0 0.013537 0 0 SGPP1 81537 broad.mit.edu 37 14 64153029 64153029 + Missense_Mutation SNP C C G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr14:64153029C>G ENST00000247225.6 - 3 1214 c.1120G>C c.(1120-1122)Gta>Cta p.V374L NM_030791.2 NP_110418.1 Q9BX95 SGPP1_HUMAN sphingosine-1-phosphate phosphatase 1 374 endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 10 OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103) AGTACAAATACCATCCCTATG 0.383000 96 222 0 0 0.014410 0 0 FBXO31 79791 broad.mit.edu 37 16 87367628 87367628 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr16:87367628C>T ENST00000311635.7 - 8 1273 c.1261G>A c.(1261-1263)Ggt>Agt p.G421S RP11-178L8.4_ENST00000568879.1_Silent_p.L84L NM_024735.3 NP_079011.3 Q5XUX0 FBX31_HUMAN F-box protein 31 421 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0272) CCATCCTCACCAGGTGTCCCA 0.746000 8 29 0 0 0.004482 0 0 SLC23A2 9962 broad.mit.edu 37 20 4850573 4850573 + Missense_Mutation SNP G G T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr20:4850573G>T ENST00000379333.1 - 12 1621 c.1229C>A c.(1228-1230)cCc>cAc p.P410H SLC23A2_ENST00000424750.2_Missense_Mutation_p.P296H|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Missense_Mutation_p.P410H NM_203327.1 NP_976072.1 Q9UGH3 S23A2_HUMAN solute carrier family 23 (ascorbic acid transporter), member 2 410 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 GTGGATGGGGGGGGGTGGGGC 0.542000 36 75 6.90743e-12 7.47746e-12 0.017118 1 0 LRP6 4040 broad.mit.edu 37 12 12284775 12284775 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr12:12284775G>A ENST00000261349.4 - 18 4026 c.3950C>T c.(3949-3951)tCa>tTa p.S1317L LRP6_ENST00000543091.1_Missense_Mutation_p.S1272L|BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_5'UTR NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 1317 LDL-receptor class A 2. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) CTTCTCATCTGATTTGTCCTG 0.448000 38 150 0 0 0.027894 0 0 OR10W1 81341 broad.mit.edu 37 11 58034971 58034971 + Silent SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr11:58034971C>T ENST00000395079.2 - 1 761 c.360G>A c.(358-360)ccG>ccA p.P120P NM_207374.3 NP_997257.2 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, member 1 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P120P(1) kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1) 26 Breast(21;0.0589) GGTACTGCAACGGGTGGCAAA 0.532000 9 36 0 0 0.004482 0 0 IPO7 10527 broad.mit.edu 37 11 9430055 9430055 + Missense_Mutation SNP G G C TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr11:9430055G>C ENST00000379719.3 + 3 331 c.189G>C c.(187-189)atG>atC p.M63I NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 63 Importin N-terminal. interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) TGAAAAATATGATAACACAGT 0.363000 20 59 0 0 0.007413 0 0 ZBBX 79740 broad.mit.edu 37 3 167068267 167068267 + Missense_Mutation SNP A A T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr3:167068267A>T ENST00000392766.2 - 9 809 c.469T>A c.(469-471)Tgc>Agc p.C157S ZBBX_ENST00000307529.5_Missense_Mutation_p.C157S|ZBBX_ENST00000392767.2_Missense_Mutation_p.C157S|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Missense_Mutation_p.C128S|ZBBX_ENST00000455345.2_Missense_Mutation_p.C157S NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 157 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TTAGCAAAGCATCCTGAACAA 0.303000 6 370 0 0 0.021553 0 0 HAO2 51179 broad.mit.edu 37 1 119923746 119923746 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr1:119923746C>T ENST00000361035.4 + 3 360 c.77C>T c.(76-78)gCg>gTg p.A26V HAO2_ENST00000325945.3_Missense_Mutation_p.A13V NM_001005783.1 NP_001005783.1 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 13 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) CAGGCCCATGCGCGAGAGCAG 0.473000 6 259 0 0 0.001984 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590604 140590604 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr5:140590604G>A ENST00000239450.2 + 1 2314 c.2125G>A c.(2125-2127)Gtg>Atg p.V709M PCDHB12_ENST00000541609.1_Missense_Mutation_p.V372M NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 709 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTCCTGTTCGTGGCGGTGCG 0.697000 44 199 0 0 0.014410 0 0 TG 7038 broad.mit.edu 37 8 133978843 133978843 + Missense_Mutation SNP C C A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr8:133978843C>A ENST00000220616.4 + 30 5627 c.5587C>A c.(5587-5589)Cag>Aag p.Q1863K TG_ENST00000542445.1_Missense_Mutation_p.Q233K|TG_ENST00000519543.1_Missense_Mutation_p.Q17K|TG_ENST00000377869.1_Missense_Mutation_p.Q1806K NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1863 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GGACCTCAACCAGGTCATTGT 0.453000 35 155 2.52637e-11 2.70856e-11 0.023175 1 0 NUP93 9688 broad.mit.edu 37 16 56878443 56878443 + Missense_Mutation SNP C C G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr16:56878443C>G ENST00000569842.1 + 23 2596 c.2500C>G c.(2500-2502)Ctt>Gtt p.L834V NUP93_ENST00000542526.1_Silent_p.T671T|NUP93_ENST00000308159.5_Silent_p.T794T|NUP93_ENST00000564887.1_Silent_p.T671T Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 0 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 CTCTGATTACCTTTGCTGGAA 0.498000 27 38 0 0 0.007291 0 0 IFNA16 3449 broad.mit.edu 37 9 21216761 21216761 + Missense_Mutation SNP G G T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr9:21216761G>T ENST00000380216.1 - 1 549 c.544C>A c.(544-546)Caa>Aaa p.Q182K NM_002173.2 NP_002164.1 P05015 IFN16_HUMAN interferon, alpha 16 182 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 13 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) AATCCTTTTTGCAAGTTTGTT 0.373000 190 422 8.32648e-103 9.57116e-103 0.014410 1 0 FAM179B 23116 broad.mit.edu 37 14 45432126 45432126 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr14:45432126G>A ENST00000361462.2 + 1 685 c.502G>A c.(502-504)Gag>Aag p.E168K FAM179B_ENST00000361577.3_Missense_Mutation_p.E168K|FAM179B_ENST00000382233.2_Missense_Mutation_p.E168K Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 168 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 GGGTCAGGGGGAGGCAGGCCA 0.562000 157 102 0 0 0.014410 0 0 KIF22 3835 broad.mit.edu 37 16 29811084 29811084 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr16:29811084G>A ENST00000561482.1 + 7 1559 c.922G>A c.(922-924)Gag>Aag p.E308K KIF22_ENST00000400751.5_Missense_Mutation_p.E308K|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000160827.4_Missense_Mutation_p.E376K|KIF22_ENST00000569382.2_Missense_Mutation_p.E308K NM_001256270.1 NP_001243199.1 Q14807 KIF22_HUMAN kinesin family member 22 376 blood coagulation|DNA repair|microtubule-based movement|mitosis cytosol|kinetochore|microtubule|nucleus ATP binding|DNA binding|microtubule motor activity|protein binding endometrium(1)|large_intestine(1)|lung(11)|skin(1) 14 TTTTACCAATGAGAGCCTGCA 0.532000 13 35 0 0 0.013537 0 0 DMRTA1 63951 broad.mit.edu 37 9 22451226 22451226 + Missense_Mutation SNP C C G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr9:22451226C>G ENST00000325870.1 + 2 1056 c.831C>G c.(829-831)atC>atG p.I277M NM_022160.2 NP_071443.2 Q5VZB9 DMRTA_HUMAN DMRT-like family A1 277 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563) GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517) CTGATAGTATCCTGTCTCCTC 0.438000 39 66 0 0 0.008740 0 0 RBM43 375287 broad.mit.edu 37 2 152107860 152107860 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr2:152107860C>T ENST00000331426.5 - 4 785 c.634G>A c.(634-636)Gag>Aag p.E212K NM_198557.2 NP_940959.1 Q6ZSC3 RBM43_HUMAN RNA binding motif protein 43 212 nucleotide binding|RNA binding endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.131) CTAGCAGTCTCAGGTACTAAG 0.393000 48 127 0 0 0.014410 0 0 FBXO38 81545 broad.mit.edu 37 5 147796565 147796565 + Silent SNP T T G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr5:147796565T>G ENST00000340253.5 + 12 1584 c.1416T>G c.(1414-1416)gcT>gcG p.A472A FBXO38_ENST00000296701.6_Silent_p.A472A|FBXO38_ENST00000513826.1_Silent_p.A472A|FBXO38_ENST00000394370.3_Silent_p.A472A Q6PIJ6 FBX38_HUMAN F-box protein 38 472 cytoplasm|nucleus ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGGTTGTGCTCGAGTTGGTC 0.373000 18 50 0 0 0.010504 0 0 SSH2 85464 broad.mit.edu 37 17 27959836 27959836 + Missense_Mutation SNP C C G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr17:27959836C>G ENST00000269033.3 - 15 2446 c.2295G>C c.(2293-2295)caG>caC p.Q765H RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.Q792H NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 765 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCAGTTGAATCTGCCCAACTC 0.468000 36 63 0 0 0.017118 0 0 SLC28A2 9153 broad.mit.edu 37 15 45564978 45564978 + Missense_Mutation SNP C C G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr15:45564978C>G ENST00000347644.3 + 17 1920 c.1855C>G c.(1855-1857)Cag>Gag p.Q619E CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA|SLC28A2_ENST00000560767.1_3'UTR NM_004212.3 NP_004203.2 O43868 S28A2_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 2 619 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity p.Q619E(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) AGGGCTCTTTCAGAGGTGAGC 0.522000 22 51 0 0 0.016522 0 0 MYH13 8735 broad.mit.edu 37 17 10219279 10219279 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr17:10219279C>T ENST00000418404.3 - 27 3965 c.3802G>A c.(3802-3804)Gag>Aag p.E1268K MYH13_ENST00000570743.1_Missense_Mutation_p.E1268K|MYH13_ENST00000252172.4_Missense_Mutation_p.E1268K Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1268 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GTCTGTTGCTCGTCCTTGGCT 0.463000 48 156 0 0 0.014410 0 0 FAM90A1 55138 broad.mit.edu 37 12 8374610 8374610 + Silent SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr12:8374610G>A ENST00000538603.1 - 7 1761 c.1203C>T c.(1201-1203)aaC>aaT p.N401N FAM90A1_ENST00000307435.6_Silent_p.N401N NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 401 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) TCCAGCGTCCGTTTTCCAGTC 0.622000 15 41 0 0 0.004990 0 0 TADA3 10474 broad.mit.edu 37 3 9828794 9828794 + Splice_Site SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr3:9828794C>T ENST00000343450.2 - 6 1254 c.e6-1 TADA3_ENST00000301964.2_Splice_Site|TADA3_ENST00000440161.1_Splice_Site NM_133480.1 NP_597814.1 O75528 TADA3_HUMAN transcriptional adaptor 3 estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 16 GCATCCACATCTAAGCGGGCA 0.597000 OREG0015382 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 64 212 0 0 0.014410 0 0 MYH7 4625 broad.mit.edu 37 14 23898464 23898464 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr14:23898464C>T ENST00000355349.3 - 13 1393 c.1231G>A c.(1231-1233)Gtc>Atc p.V411I NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 411 Myosin head-like. V -> I (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CCCTTGGTGACGTACTCATTG 0.567000 145 91 0 0 0.014410 0 0 CACNA1S 779 broad.mit.edu 37 1 201079386 201079386 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr1:201079386G>A ENST00000362061.3 - 2 390 c.164C>T c.(163-165)aCg>aTg p.T55M CACNA1S_ENST00000367338.3_Missense_Mutation_p.T55M NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 55 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CAAGATGATCGTCTCGAAGGG 0.572000 24 53 0 0 0.018920 0 0 SALL3 27164 broad.mit.edu 37 18 76754267 76754267 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr18:76754267G>A ENST00000536229.3 + 1 2586 c.1877G>A c.(1876-1878)cGc>cAc p.R626H SALL3_ENST00000575389.2_Missense_Mutation_p.R759H|SALL3_ENST00000537592.2_Missense_Mutation_p.R759H Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 759 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CAGCACATCCGCATGCACATG 0.657000 13 45 0 0 0.016723 0 0 NR5A2 2494 broad.mit.edu 37 1 200014674 200014674 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr1:200014674G>A ENST00000367362.3 + 4 671 c.425G>A c.(424-426)cGt>cAt p.R142H NR5A2_ENST00000236914.3_Missense_Mutation_p.R96H|NR5A2_ENST00000544748.1_Missense_Mutation_p.R70H NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 142 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) CCTTACTGTCGTTTTCAAAAA 0.343000 22 73 0 0 0.016522 0 0 IGKV1D-16 28901 broad.mit.edu 37 2 90139282 90139282 + RNA SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr2:90139282C>T ENST00000492446.1 + 0 82 TTTCCAATCTCAGGTGCCAGA 0.453000 33 136 0 0 0.014410 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79743947 79743947 + Missense_Mutation SNP C C G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr5:79743947C>G ENST00000338008.5 + 7 3007 c.2827C>G c.(2827-2829)Cag>Gag p.Q943E ZFYVE16_ENST00000505560.1_Missense_Mutation_p.Q943E|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.Q943E NM_014733.3 NP_055548.3 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 943 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) TCCTATTTCTCAGGTTCCATC 0.373000 27 95 0 0 0.006320 0 0 PHLDB2 90102 broad.mit.edu 37 3 111688638 111688638 + Silent SNP A A G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr3:111688638A>G ENST00000431670.2 + 16 3828 c.3417A>G c.(3415-3417)gtA>gtG p.V1139V PHLDB2_ENST00000495180.1_Silent_p.V630V|PHLDB2_ENST00000481953.1_Silent_p.V1096V|PHLDB2_ENST00000412622.1_Silent_p.V1096V|PHLDB2_ENST00000393923.3_Silent_p.V1123V|PHLDB2_ENST00000393925.3_Silent_p.V1139V NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 1139 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GTTACCATGTATCAATCACAG 0.458000 27 87 0 0 0.024334 0 0 MYH13 8735 broad.mit.edu 37 17 10231229 10231229 + Missense_Mutation SNP A A T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr17:10231229A>T ENST00000418404.3 - 21 2808 c.2645T>A c.(2644-2646)gTc>gAc p.V882D RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000570743.1_Missense_Mutation_p.V882D|MYH13_ENST00000252172.4_Missense_Mutation_p.V882D Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 882 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CAGGAGGGAGACCATTTTCTC 0.527000 OREG0024177 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 74 0 0 0.006122 0 0 TMEM161A 54929 broad.mit.edu 37 19 19230817 19230817 + Silent SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr19:19230817G>A ENST00000450333.2 - 10 1090 c.1053C>T c.(1051-1053)ctC>ctT p.L351L TMEM161A_ENST00000162044.9_Silent_p.L454L|TMEM161A_ENST00000587583.2_Silent_p.L429L NM_001256766.1 NP_001243695.1 Q9NX61 T161A_HUMAN transmembrane protein 161A 454 cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid integral to membrane breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011) TCCACCAGATGAGGTAGGCCA 0.662000 4 7 0 0 0.009096 0 0 DNHD1 144132 broad.mit.edu 37 11 6540999 6540999 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr11:6540999C>T ENST00000254579.6 + 8 2126 c.1562C>T c.(1561-1563)gCc>gTc p.A521V DNHD1_ENST00000354685.3_Missense_Mutation_p.A521V|DNHD1_ENST00000527990.2_Missense_Mutation_p.A521V NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 521 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GGAAAGTTTGCCCGCCTGGTT 0.522000 4 101 0 0 0.009096 0 0 NIPBL 25836 broad.mit.edu 37 5 36986387 36986387 + Silent SNP A A G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr5:36986387A>G ENST00000282516.8 + 10 3604 c.3105A>G c.(3103-3105)ccA>ccG p.P1035P NIPBL_ENST00000448238.2_Silent_p.P1035P|NIPBL_ENST00000504430.1_3'UTR NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1035 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) AGAATAAACCATCAAAGTCAA 0.274000 36 102 0 0 0.021022 0 0 EPHA5 2044 broad.mit.edu 37 4 66230776 66230776 + Missense_Mutation SNP T T G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr4:66230776T>G ENST00000273854.3 - 12 2795 c.2195A>C c.(2194-2196)gAt>gCt p.D732A EPHA5_ENST00000432638.2_Missense_Mutation_p.D569A|EPHA5_ENST00000354839.4_Missense_Mutation_p.D710A|EPHA5_ENST00000511294.1_Missense_Mutation_p.D733A NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 732 Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 GTTAGGATGATCAAACTGTCC 0.373000 TSP Lung(17;0.13) 46 177 0 0 0.014410 0 0 FAM221B 392307 broad.mit.edu 37 9 35825248 35825248 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr9:35825248C>T ENST00000423537.2 - 3 990 c.721G>A c.(721-723)Gcc>Acc p.A241T TMEM8B_ENST00000377996.1_Intron NM_001012446.3 NP_001012448.2 A6H8Z2 CI128_HUMAN family with sequence similarity 221, member B 241 endometrium(2)|kidney(1)|lung(4) 7 GCATTCAGGGCTGCATCCTTC 0.532000 49 68 0 0 0.014410 0 0 EEF1A1 1915 broad.mit.edu 37 6 74228304 74228304 + Missense_Mutation SNP C C G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr6:74228304C>G ENST00000316292.9 - 5 1793 c.802G>C c.(802-804)Gag>Cag p.E268Q EEF1A1_ENST00000309268.6_Missense_Mutation_p.E268Q|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.E268Q NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 268 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 ACACCAGTCTCCACTCGGCCA 0.418000 OREG0003895 type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 17 77 0 0 0.016522 0 0 LOC220729 220729 broad.mit.edu 37 3 197348668 197348668 + RNA SNP C C G rs79940815 by1000genomes TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr3:197348668C>G ENST00000418868.1 - 0 591 NR_003266.2 ACTTGAGGCTCTGTCCACCAA 0.488000 4 171 0 0 0.014758 0 0 IRF2 3660 broad.mit.edu 37 4 185311904 185311904 + Splice_Site SNP C C G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr4:185311904C>G ENST00000393593.3 - 8 902 c.e8-1 NM_002199.3 NP_002190.2 P14316 IRF2_HUMAN interferon regulatory factor 2 blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 22 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) GTTTCGCTTTCTGTTCACAGA 0.532000 27 72 0 0 0.009535 0 0 MYF6 4618 broad.mit.edu 37 12 81101864 81101864 + Silent SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr12:81101864C>T ENST00000228641.3 + 1 588 c.366C>T c.(364-366)gcC>gcT p.A122A NM_002469.2 NP_002460.1 P23409 MYF6_HUMAN myogenic factor 6 (herculin) 122 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1) 26 GAACTGTGGCCAACCCCAACC 0.617000 15 103 0 0 0.010504 0 0 IDH3A 3419 broad.mit.edu 37 15 78454629 78454629 + Silent SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr15:78454629G>A ENST00000299518.2 + 6 614 c.531G>A c.(529-531)aaG>aaA p.K177K IDH3A_ENST00000441490.2_Silent_p.K68K|IDH3A_ENST00000558554.1_Silent_p.K142K|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558535.1_3'UTR NM_005530.2 NP_005521.1 P50213 IDH3A_HUMAN isocitrate dehydrogenase 3 (NAD+) alpha 177 carbohydrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 12 NADH(DB00157) GGGCGAGCAAGCGCATTGCTG 0.562000 31 118 0 0 0.012213 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 3 167 0 0 0.009096 0 0 TPRA1 131601 broad.mit.edu 37 3 127298632 127298632 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr3:127298632G>A ENST00000355552.3 - 3 585 c.209C>T c.(208-210)gCg>gTg p.A70V TPRA1_ENST00000489960.1_Missense_Mutation_p.A70V|TPRA1_ENST00000450633.2_Missense_Mutation_p.A70V|TPRA1_ENST00000296210.7_Missense_Mutation_p.A70V NM_001136053.1 NP_001129525.1 Q86W33 TPRA1_HUMAN transmembrane protein, adipocyte asscociated 1 70 aging|lipid metabolic process integral to membrane G-protein coupled receptor activity endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 9 GCGGATCTTCGCCCGAGCAGA 0.532000 10 34 0 0 0.010729 0 0 ASXL3 80816 broad.mit.edu 37 18 31319619 31319619 + Missense_Mutation SNP G G C TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr18:31319619G>C ENST00000269197.5 + 11 2251 c.2251G>C c.(2251-2253)Gaa>Caa p.E751Q NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 751 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ACTTCCTTCAGAAACATCTCC 0.433000 82 230 0 0 0.014410 0 0 TJP1 7082 broad.mit.edu 37 15 30018667 30018667 + Silent SNP A A G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr15:30018667A>G ENST00000346128.6 - 18 2802 c.2328T>C c.(2326-2328)aaT>aaC p.N776N TJP1_ENST00000356107.6_Silent_p.N776N|TJP1_ENST00000400011.2_Silent_p.N780N|TJP1_ENST00000545208.2_Silent_p.N776N NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 776 Guanylate kinase-like. cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) CATTCATTGAATTTAAGTTAA 0.373000 33 88 0 0 0.012213 0 0 TPTE 7179 broad.mit.edu 37 21 10951321 10951321 + Silent SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr21:10951321G>A ENST00000298232.7 - 9 704 c.337C>T c.(337-339)Cta>Tta p.L113L TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.L131L|TPTE_ENST00000342420.5_Silent_p.L93L NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 131 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GCAATAGCTAGAGAAATAGAA 0.343000 24 80 0 0 0.024334 0 0 SMARCA2 6595 broad.mit.edu 37 9 2039806 2039806 + Silent SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr9:2039806G>A ENST00000382203.1 + 4 905 c.696G>A c.(694-696)caG>caA p.Q232Q SMARCA2_ENST00000357248.2_Silent_p.Q232Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_Silent_p.Q232Q|SMARCA2_ENST00000349721.2_Silent_p.Q232Q P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 232 Poly-Gln. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) agcagcagcagcagcagcagc 0.602000 2 1 0 0 0.009096 0 0 ITGAE 3682 broad.mit.edu 37 17 3658514 3658514 + Silent SNP G G T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr17:3658514G>T ENST00000263087.4 - 12 1379 c.1281C>A c.(1279-1281)tcC>tcA p.S427S NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 427 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) ACGCCCCTCCGGACCAGTCAA 0.721000 3 2 0.004672 0.00477916 0.004672 1 0 USP44 84101 broad.mit.edu 37 12 95927270 95927270 + Nonsense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr12:95927270G>A ENST00000258499.3 - 2 1051 c.763C>T c.(763-765)Caa>Taa p.Q255* USP44_ENST00000537435.2_Nonsense_Mutation_p.Q255*|USP44_ENST00000393091.2_Nonsense_Mutation_p.Q255*|USP44_ENST00000552440.1_Nonsense_Mutation_p.Q255* NM_001278393.1|NM_032147.2 NP_001265322.1|NP_115523.2 Q9H0E7 UBP44_HUMAN ubiquitin specific peptidase 44 255 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 CTGACTTTTTGAGATATTTCA 0.388000 32 206 0 0 0.012213 0 0 ZNF292 23036 broad.mit.edu 37 6 87964636 87964636 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr6:87964636G>A ENST00000369577.3 + 8 1332 c.1289G>A c.(1288-1290)tGt>tAt p.C430Y ZNF292_ENST00000339907.4_Missense_Mutation_p.C425Y NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 430 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) TCTTTACGCTGTGAGCTGTTA 0.388000 10 46 0 0 0.010729 0 0 CADPS2 93664 broad.mit.edu 37 7 122033249 122033249 + Splice_Site SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr7:122033249C>T ENST00000334010.7 - 20 3424 c.e20+1 CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Splice_Site|CADPS2_ENST00000412584.2_Intron|RP5-1101C3.1_ENST00000593910.1_RNA|RP5-1101C3.1_ENST00000591140.1_RNA NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 GGAATACACACGTGGACTCAT 0.458000 8 27 0 0 0.003080 0 0 CRB3 92359 broad.mit.edu 37 19 6466612 6466612 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr19:6466612G>A ENST00000598494.1 + 4 823 c.292G>A c.(292-294)Gag>Aag p.E98K CRB3_ENST00000308243.7_Missense_Mutation_p.E98K|CRB3_ENST00000600229.1_Missense_Mutation_p.E98K|CRB3_ENST00000356762.3_Missense_Mutation_p.E98K Q9BUF7 CRUM3_HUMAN crumbs homolog 3 (Drosophila) 98 protein localization in plasma membrane|tight junction assembly apical plasma membrane|integral to membrane|tight junction SH3 domain binding endometrium(1)|large_intestine(1)|lung(1) 3 GCCCAGTAGCGAGGAGCAGGT 0.677000 21 80 0 0 0.014323 0 0 IFFO1 25900 broad.mit.edu 37 12 6659915 6659915 + Silent SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr12:6659915C>T ENST00000336604.4 - 3 917 c.876G>A c.(874-876)ctG>ctA p.L292L IFFO1_ENST00000436152.2_5'UTR|IFFO1_ENST00000356896.4_Silent_p.L292L|IFFO1_ENST00000396840.2_Silent_p.L292L|IFFO1_ENST00000465801.1_5'UTR NM_080730.4 NP_542768.2 Q0D2I5 IFFO1_HUMAN intermediate filament family orphan 1 292 intermediate filament central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 20 GTTCCACCTTCAGTGCCAGCT 0.582000 31 51 0 0 0.010818 0 0 ANO4 121601 broad.mit.edu 37 12 101477507 101477507 + Missense_Mutation SNP A A G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr12:101477507A>G ENST00000392979.3 + 15 1703 c.1342A>G c.(1342-1344)Aat>Gat p.N448D ANO4_ENST00000392977.3_Missense_Mutation_p.N483D|ANO4_ENST00000299222.9_Intron|ANO4_ENST00000550015.1_Intron NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 483 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 AGAGCGGATGAATCCAATTTC 0.383000 HNSCC(74;0.22) 36 178 0 0 0.023175 0 0 SYCP3 50511 broad.mit.edu 37 12 102127427 102127427 + Missense_Mutation SNP G G C TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr12:102127427G>C ENST00000392927.3 - 6 510 c.379C>G c.(379-381)Cag>Gag p.Q127E SYCP3_ENST00000266743.2_Missense_Mutation_p.Q127E|SYCP3_ENST00000392924.1_Missense_Mutation_p.Q127E NM_001177948.1|NM_001177949.1|NM_153694.4 NP_001171419.1|NP_001171420.1|NP_710161.1 Q8IZU3 SYCP3_HUMAN synaptonemal complex protein 3 127 Gln-rich. cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins nucleus DNA binding endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 AGAAACTGCTGAGAATATTCT 0.303000 57 79 0 0 0.014410 0 0 BAI3 577 broad.mit.edu 37 6 70098604 70098604 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr6:70098604G>A ENST00000370598.1 + 32 5211 c.4390G>A c.(4390-4392)Gca>Aca p.A1464T BAI3_ENST00000546190.1_Missense_Mutation_p.A428T|BAI3_ENST00000238918.8_Missense_Mutation_p.A670T NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1464 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.A1464T(1) NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GGAAAACCCCGCACCAAACAA 0.448000 9 31 0 0 0.008291 0 0 CASP8 841 broad.mit.edu 37 2 202151270 202151270 + Nonsense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr2:202151270C>T ENST00000358485.4 + 9 1766 c.1570C>T c.(1570-1572)Cag>Tag p.Q524* CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q381*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q482*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q450*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q465*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 465 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding p.Q482*(1) breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 ACAGATGCCTCAGCCTACTTT 0.373000 HNSCC(4;0.00038) 36 40 0 0 0.017118 0 0 SP4 6671 broad.mit.edu 37 7 21469033 21469033 + Nonsense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr7:21469033C>T ENST00000222584.3 + 3 468 c.250C>T c.(250-252)Caa>Taa p.Q84* NM_003112.3 NP_003103.2 Q02446 SP4_HUMAN Sp4 transcription factor 84 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 35 GGTGCAACTTCAAAATCAACC 0.433000 29 69 0 0 0.007291 0 0 ANO2 57101 broad.mit.edu 37 12 5941701 5941701 + Silent SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr12:5941701C>T ENST00000327087.8 - 5 761 c.690G>A c.(688-690)tcG>tcA p.S230S ANO2_ENST00000356134.5_Silent_p.S231S|ANO2_ENST00000546188.1_Silent_p.S231S Q9NQ90 ANO2_HUMAN anoctamin 2 235 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 GCTGCAGGTGCGAGCTCAGCT 0.507000 18 101 0 0 0.004990 0 0 HOXB4 3214 broad.mit.edu 37 17 46654222 46654222 + Missense_Mutation SNP G G C TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr17:46654222G>C ENST00000332503.5 - 2 2409 c.618C>G c.(616-618)atC>atG p.I206M HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000498678.1_Intron NM_024015.4 NP_076920.1 P17483 HXB4_HUMAN homeobox B4 206 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2) 9 ACCAGATCTTGATCTGGCGCT 0.607000 62 215 0 0 0.014410 0 0 MOGS 7841 broad.mit.edu 37 2 74688809 74688809 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr2:74688809C>T ENST00000233616.4 - 4 2269 c.2107G>A c.(2107-2109)Gac>Aac p.D703N MOGS_ENST00000452063.2_Missense_Mutation_p.D597N|MOGS_ENST00000409065.1_3'UTR NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 703 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 GAGGTGGGGTCCAGCAGTCGC 0.607000 28 72 0 0 0.027356 0 0 MAGI2 9863 broad.mit.edu 37 7 78131057 78131057 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr7:78131057G>A ENST00000354212.4 - 5 1055 c.802C>T c.(802-804)Ccc>Tcc p.P268S MAGI2_ENST00000536571.1_Missense_Mutation_p.P100S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P268S|MAGI2_ENST00000535697.1_Missense_Mutation_p.P105S|MAGI2_ENST00000419488.1_Missense_Mutation_p.P268S NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 268 Guanylate kinase-like. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) GGCTGGGAGGGCATCTCCCCT 0.498000 4 94 0 0 0.014758 0 0 SEMA4C 54910 broad.mit.edu 37 2 97526459 97526459 + Silent SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr2:97526459G>A ENST00000305476.5 - 15 2538 c.2406C>T c.(2404-2406)ctC>ctT p.L802L NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 802 muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 GGGGGTGCCCGAGCCCTCCCC 0.627000 51 142 0 0 0.014410 0 0 DST 667 broad.mit.edu 37 6 56443679 56443679 + Silent SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr6:56443679C>T ENST00000370754.5 - 50 12866 c.12867G>A c.(12865-12867)acG>acA p.T4289T DST_ENST00000244364.6_Silent_p.T1697T|DST_ENST00000361203.3_Silent_p.T4109T|DST_ENST00000312431.6_Silent_p.T4109T|DST_ENST00000370769.4_Silent_p.T4111T|DST_ENST00000446842.2_Silent_p.T3785T|DST_ENST00000370788.2_Silent_p.T2023T|DST_ENST00000421834.2_Silent_p.T2023T Q03001 DYST_HUMAN dystonin 4109 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GCACTTCAGCCGTTTTCTTCA 0.413000 7 22 0 0 0.001984 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49368815 49368815 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr19:49368815G>A ENST00000263265.6 - 3 692 c.137C>T c.(136-138)gCg>gTg p.A46V PLEKHA4_ENST00000355496.5_Missense_Mutation_p.A46V NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 46 cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) CCTCCTGAGCGCATTGCCTCT 0.572000 14 53 0 0 0.028581 0 0 KIAA1468 57614 broad.mit.edu 37 18 59888730 59888730 + Splice_Site SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr18:59888730G>A ENST00000256858.6 + 5 1106 c.858_splice c.e5+1 p.Q286_splice KIAA1468_ENST00000398130.2_Splice_Site_p.Q286_splice Q9P260 K1468_HUMAN KIAA1468 286 LisH. binding autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) ACGATGATCAGGTAAAGTTAC 0.239000 14 51 0 0 0.016723 0 0 OSGIN1 29948 broad.mit.edu 37 16 83983085 83983085 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr16:83983085C>T ENST00000343939.2 + 1 414 c.31C>T c.(31-33)Cgg>Tgg p.R11W RP11-505K9.4_ENST00000561562.1_RNA|OSGIN1_ENST00000361711.3_5'UTR Q9UJX0 OSGI1_HUMAN oxidative stress induced growth inhibitor 1 11 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 12 AGGCTGCTGCCGGGGAAATAT 0.582000 42 84 0 0 0.009718 0 0 PPP5C 5536 broad.mit.edu 37 19 46891915 46891915 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr19:46891915G>A ENST00000012443.4 + 11 1385 c.1282G>A c.(1282-1284)Gaa>Aaa p.E428K PPP5C_ENST00000391919.1_Missense_Mutation_p.E300K NM_006247.3 NP_006238.1 P53041 PPP5_HUMAN protein phosphatase 5, catalytic subunit 428 Catalytic. mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent Golgi apparatus|nucleus metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1) 18 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504) CCGCAGCCACGAAGTCAAGGC 0.597000 48 160 0 0 0.014410 0 0 DMRTA1 63951 broad.mit.edu 37 9 22451198 22451198 + Nonsense_Mutation SNP C C G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr9:22451198C>G ENST00000325870.1 + 2 1028 c.803C>G c.(802-804)tCa>tGa p.S268* NM_022160.2 NP_071443.2 Q5VZB9 DMRTA_HUMAN DMRT-like family A1 268 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563) GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517) TCATCTATTTCAGAATACTCC 0.448000 44 77 0 0 0.014410 0 0 MAST3 23031 broad.mit.edu 37 19 18254654 18254654 + Silent SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr19:18254654G>A ENST00000262811.5 + 21 2334 c.2334G>A c.(2332-2334)ctG>ctA p.L778L NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 778 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 CATCTCTCCTGAATACCATCA 0.607000 10 26 0 0 0.008291 0 0 LAMB4 22798 broad.mit.edu 37 7 107752256 107752256 + Splice_Site SNP C C A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr7:107752256C>A ENST00000388781.3 - 4 411 c.328_splice c.e4+1 p.G110_splice LAMB4_ENST00000388780.3_Splice_Site_p.G110_splice|LAMB4_ENST00000205386.4_Splice_Site_p.G110_splice|LAMB4_ENST00000414450.2_Splice_Site_p.G110_splice NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 110 Laminin N-terminal. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TAAATCATACCATTTTCAGAT 0.338000 40 89 6.2361e-21 6.91866e-21 0.007835 1 0 RP1L1 94137 broad.mit.edu 37 8 10480315 10480315 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr8:10480315C>T ENST00000382483.3 - 2 620 c.397G>A c.(397-399)Gaa>Aaa p.E133K RP1L1_ENST00000329335.3_5'UTR NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 133 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CGCTGGCCTTCGACATCCCGC 0.607000 36 57 0 0 0.015359 0 0 NRG2 9542 broad.mit.edu 37 5 139422206 139422206 + Missense_Mutation SNP C C A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr5:139422206C>A ENST00000541337.1 - 1 678 c.449G>T c.(448-450)cGa>cTa p.R150L NRG2_ENST00000394770.1_Missense_Mutation_p.R150L|NRG2_ENST00000289409.4_Missense_Mutation_p.R150L|NRG2_ENST00000358522.3_Missense_Mutation_p.R150L|NRG2_ENST00000289422.7_Missense_Mutation_p.R150L|NRG2_ENST00000545385.1_Missense_Mutation_p.R150L|NRG2_ENST00000361474.1_Missense_Mutation_p.R150L NM_001184935.1 NP_001171864.1 O14511 NRG2_HUMAN neuregulin 2 150 embryo development extracellular region|integral to membrane|plasma membrane growth factor activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCGGCTCTCGGGTGCTGTT 0.697000 3 17 2.56e-06 2.65526e-06 0.009096 1 0 OR10H1 26539 broad.mit.edu 37 19 15918182 15918182 + Silent SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr19:15918182G>A ENST00000334920.2 - 1 754 c.666C>T c.(664-666)atC>atT p.I222I NM_013940.2 NP_039228.1 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, member 1 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1) 29 TGGCGGCCACGATGAAGGCAT 0.577000 18 101 0 0 0.017118 0 0 TNFSF11 8600 broad.mit.edu 37 13 43180976 43180976 + Silent SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr13:43180976G>A ENST00000398795.2 + 5 1025 c.657G>A c.(655-657)gaG>gaA p.E219E TNFSF11_ENST00000405262.2_Silent_p.E219E|TNFSF11_ENST00000544862.1_Silent_p.E219E|TNFSF11_ENST00000239849.6_Silent_p.E292E|TNFSF11_ENST00000358545.2_Silent_p.E219E NM_003701.3 NP_003692.1 O14788 TNF11_HUMAN tumor necrosis factor (ligand) superfamily, member 11 292 immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation cytoplasm|extracellular space|integral to plasma membrane cytokine activity|receptor activity|tumor necrosis factor receptor binding kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 10 Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073) TCAGCATCGAGGTCTCCAACC 0.423000 53 178 0 0 0.014410 0 0 NRDE2 55051 broad.mit.edu 37 14 90770702 90770702 + Silent SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr14:90770702G>A ENST00000354366.3 - 5 814 c.582C>T c.(580-582)tgC>tgT p.C194C NRDE2_ENST00000357904.3_5'UTR NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing TAATGCCAAGGCAGGAGTCTC 0.418000 23 136 0 0 0.018920 0 0 UNC13C 440279 broad.mit.edu 37 15 54305667 54305667 + Missense_Mutation SNP G G C TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr15:54305667G>C ENST00000545554.1 + 1 567 c.567G>C c.(565-567)aaG>aaC p.K189N UNC13C_ENST00000537900.1_Missense_Mutation_p.K189N|UNC13C_ENST00000260323.11_Missense_Mutation_p.K189N Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 189 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) AATGGAAAAAGAGTCAAGAAT 0.458000 30 90 0 0 0.008361 0 0 CARD14 79092 broad.mit.edu 37 17 78182030 78182030 + Silent SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr17:78182030C>T ENST00000573882.1 + 23 3437 c.2901C>T c.(2899-2901)taC>taT p.Y967Y CARD14_ENST00000344227.2_Silent_p.Y967Y Q9BXL6 CAR14_HUMAN caspase recruitment domain family, member 14 967 Guanylate kinase-like. activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1) 23 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CCTGTCTATACAGCAGCCTGG 0.672000 2 2 0 0 0.009096 0 0 FAM151A 338094 broad.mit.edu 37 1 55089015 55089015 + Silent SNP G G T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr1:55089015G>T ENST00000302250.2 - 1 214 c.54C>A c.(52-54)ggC>ggA p.G18G RP11-240D10.4_ENST00000416119.1_RNA|FAM151A_ENST00000371304.2_Silent_p.G18G|ACOT11_ENST00000371316.3_Intron NM_176782.2 NP_788954.2 Q8WW52 F151A_HUMAN family with sequence similarity 151, member A 18 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 CACAGGTAATGCCGGCAAACA 0.597000 114 98 4.64626e-59 5.2863e-59 0.014410 1 0 MYH13 8735 broad.mit.edu 37 17 10231210 10231210 + Missense_Mutation SNP C C G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr17:10231210C>G ENST00000418404.3 - 21 2827 c.2664G>C c.(2662-2664)aaG>aaC p.K888N RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000570743.1_Missense_Mutation_p.K888N|MYH13_ENST00000252172.4_Missense_Mutation_p.K888N Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 888 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GGAGGTCATTCTTCTCCTGCA 0.527000 OREG0024177 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 75 0 0 0.014323 0 0 PMVK 10654 broad.mit.edu 37 1 154898894 154898894 + Silent SNP C C T rs137902262 byFrequency TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr1:154898894C>T ENST00000368467.3 - 4 683 c.378G>A c.(376-378)acG>acA p.T126T NM_006556.3 NP_006547.1 Q15126 PMVK_HUMAN phosphomevalonate kinase 126 cholesterol biosynthetic process|protein phosphorylation cytosol|peroxisome ATP binding|phosphomevalonate kinase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGACCGTCTGCGTCACGGCCC 0.617000 19 48 0 0 0.007413 0 0 FBXO6 26270 broad.mit.edu 37 1 11728956 11728956 + Silent SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr1:11728956C>T ENST00000376753.4 + 2 376 c.241C>T c.(241-243)Cta>Tta p.L81L NM_018438.5 NP_060908.1 Q9NRD1 FBX6_HUMAN F-box protein 6 81 FBA. DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex glycoprotein binding breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2) 6 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) CTTCTACTTCCTACGGAGCCT 0.602000 6 91 0 0 0.008291 0 0 TRIM35 23087 broad.mit.edu 37 8 27145246 27145246 + Missense_Mutation SNP C C T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr8:27145246C>T ENST00000305364.4 - 6 1386 c.1303G>A c.(1303-1305)Gag>Aag p.E435K TRIM35_ENST00000521253.1_3'UTR NM_171982.3 NP_741983.2 Q9UPQ4 TRI35_HUMAN tripartite motif containing 35 435 B30.2/SPRY. apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle cytoplasm|nucleus zinc ion binding breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 14 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141) TCGCCCTCCTCACACTCCAGC 0.682000 5 10 0 0 0.021553 0 0 KRTCAP3 200634 broad.mit.edu 37 2 27665758 27665758 + Missense_Mutation SNP G G T TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr2:27665758G>T ENST00000543753.1 + 3 310 c.263G>T c.(262-264)cGc>cTc p.R88L KRTCAP3_ENST00000407293.1_Missense_Mutation_p.R70L|KRTCAP3_ENST00000288873.3_Missense_Mutation_p.R88L NM_001168364.1 NP_001161836.1 Q53RY4 KCP3_HUMAN keratinocyte associated protein 3 88 integral to membrane large_intestine(1)|lung(2) 3 Acute lymphoblastic leukemia(172;0.155) AACCTTCTTCGCCCTCCACTG 0.587000 27 54 7.68411e-24 8.56779e-24 0.008361 1 0 EFNA3 1944 broad.mit.edu 37 1 155057801 155057801 + Silent SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr1:155057801G>A ENST00000368408.3 + 2 433 c.363G>A c.(361-363)aaG>aaA p.K121K EFNA3_ENST00000556931.1_Silent_p.K116K|EFNA3_ENST00000505139.1_Silent_p.K116K|EFNA3_ENST00000418360.2_Silent_p.K121K NM_004952.4 NP_004943.1 P52797 EFNA3_HUMAN ephrin-A3 121 cell-cell signaling anchored to membrane|integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2) 5 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193) GCCCCATCAAGTTCTCGGAGA 0.647000 5 21 0 0 0.014758 0 0 TUBB1 81027 broad.mit.edu 37 20 57599074 57599074 + Missense_Mutation SNP G G T rs147034202 byFrequency TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr20:57599074G>T ENST00000217133.1 + 4 861 c.592G>T c.(592-594)Gcc>Tcc p.A198S NM_030773.3 NP_110400.1 Q9H4B7 TBB1_HUMAN tubulin, beta 1 class VI 198 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2) 16 all_lung(29;0.00711) Colorectal(105;0.109) Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309) GAATGCAGATGCCTGTTTCTG 0.527000 5 220 0.014758 0.0149592 0.014758 1 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803302 142803303 + RNA INS - - AAC rs79529551 TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr1:142803302_142803303insAAC ENST00000423385.1 - 0 1662_1663 acaacaacaacaaACAGGATGT 0.386 3 6 --- --- --- --- LOC101927533 101927533 broad.mit.edu 37 2 65738847 65738847 + RNA DEL T T - rs111377658 TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr2:65738847delT ENST00000377977.3 + 0 862 ttttTTGAAATTTTTTTTTTT 0.294 3 2 --- --- --- --- SPEG 10290 broad.mit.edu 37 2 220300061 220300061 + Frame_Shift_Del DEL C C - TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr2:220300061delC ENST00000312358.7 + 1 494 c.362delC c.(361-363)ggfs p.A121fs NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 121 Ig-like 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) TCCTGCGAGGCGGTGCTCACA 0.741 2 4 --- --- --- --- PFKFB4 5210 broad.mit.edu 37 3 48575989 48575993 + Frame_Shift_Del DEL TGAAG TGAAG - TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr3:48575989_48575993delTGAAG ENST00000232375.3 - 7 682_686 c.570_574delCTTCA c.(568-576)gatgfs p.DFM190fs PFKFB4_ENST00000383734.2_Frame_Shift_Del_p.DFM190fs|PFKFB4_ENST00000536104.1_Frame_Shift_Del_p.DFM179fs|PFKFB4_ENST00000541519.1_Frame_Shift_Del_p.DFM156fs|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000416568.1_Frame_Shift_Del_p.DFM190fs|PFKFB4_ENST00000490115.1_5'UTR NM_004567.2 NP_004558.1 Q16877 F264_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 190 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) ATGCGCCTCATGAAGTCCTCCGTAG 0.576 23 85 --- --- --- --- ARAP2 116984 broad.mit.edu 37 4 36148978 36148979 + Frame_Shift_Ins INS - - T rs148742461 by1000genomes TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr4:36148978_36148979insT ENST00000303965.4 - 19 3691_3692 c.3202_3203insA c.(3202-3204)cagfs p.Q1068fs NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1068 PH 4. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 CATTGTGCTGATTGCTGAAGGG 0.332 46 194 --- --- --- --- MLLT4 4301 broad.mit.edu 37 6 168317900 168317900 + Frame_Shift_Del DEL T T - TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr6:168317900delT ENST00000366806.2 + 19 2818 c.2676delT c.(2674-2676)ccfs p.P892fs MLLT4_ENST00000400822.3_Frame_Shift_Del_p.P891fs|MLLT4_ENST00000392108.3_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000344191.4_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000392112.1_Frame_Shift_Del_p.P876fs|MLLT4_ENST00000351017.4_Frame_Shift_Del_p.P899fs|MLLT4_ENST00000447894.2_Frame_Shift_Del_p.P892fs P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 892 Dilute. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) CTGATGAGCCTTTTATCCCAA 0.398 T MLL AL 7 309 --- --- --- --- OPLAH 26873 broad.mit.edu 37 8 145114665 145114666 + Frame_Shift_Ins INS - - G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr8:145114665_145114666insG ENST00000426825.1 - 3 280_281 c.199_200insC c.(199-201)gccfs p.A67fs OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 67 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) GTCCAGCGGCTGGTCCCGGGGC 0.708 8 37 --- --- --- --- PPAPDC2 403313 broad.mit.edu 37 9 4662602 4662603 + Frame_Shift_Ins INS - - G TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr9:4662602_4662603insG ENST00000381883.2 + 1 305_306 c.227_228insG c.(226-228)gggfs p.G76fs SPATA6L_ENST00000223517.5_Intron|SPATA6L_ENST00000454239.2_Intron|SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000381895.5_Intron NM_203453.3 NP_982278.3 Q8IY26 PPAC2_HUMAN phosphatidic acid phosphatase type 2 domain containing 2 76 integral to membrane hydrolase activity endometrium(1)|large_intestine(2)|lung(1) 4 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.026) CTGGCCGCGGCGGGCCCCTCGC 0.752 OREG0019084 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 57 --- --- --- --- SPSB2 84727 broad.mit.edu 37 12 6980443 6980444 + Frame_Shift_Del DEL CA CA - TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr12:6980443_6980444delCA ENST00000524270.1 - 3 890_891 c.704_705delTG c.(703-705)gfs p.V235fs SPSB2_ENST00000523102.1_Frame_Shift_Del_p.V235fs NM_032641.3 NP_116030.1 Q99619 SPSB2_HUMAN splA/ryanodine receptor domain and SOCS box containing 2 235 SOCS box. intracellular signal transduction cytoplasm protein binding kidney(2)|lung(2)|upper_aerodigestive_tract(1) 5 GGTTGTGGCGCACACACAGGCG 0.624 11 52 --- --- --- --- EXOSC8 11340 broad.mit.edu 37 13 37578686 37578686 + Frame_Shift_Del DEL A A - TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr13:37578686delA ENST00000389704.3 + 5 491 c.226delA c.(226-228)aafs p.K76fs EXOSC8_ENST00000489088.1_3'UTR NM_181503.2 NP_852480.1 Q96B26 EXOS8_HUMAN exosome component 8 76 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus AU-rich element binding|identical protein binding biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1) 7 Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411) TGCCCCTGATAAAGGATACGT 0.289 9 144 --- --- --- --- ADCY7 113 broad.mit.edu 37 16 50340985 50340986 + Frame_Shift_Ins INS - - C rs74793314 TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr16:50340985_50340986insC ENST00000394697.2 + 15 2117_2118 c.1777_1778insC c.(1777-1779)ccgfs p.P593fs ADCY7_ENST00000566433.2_Frame_Shift_Ins_p.P593fs|ADCY7_ENST00000538642.1_Frame_Shift_Ins_p.P593fs|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000254235.3_Frame_Shift_Ins_p.P593fs P51828 ADCY7_HUMAN adenylate cyclase 7 593 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) CATCCCCCGGGCCCGCCACGAC 0.658 8 40 --- --- --- --- KRTAP4-1 85285 broad.mit.edu 37 17 39340796 39340852 + In_Frame_Del DEL CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - rs483929 by1000genomes TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG ENST00000398472.1 - 1 742_798 c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG c.(253-312)cgt>cg p.RPLCCQTTCHPSCGMSSCCR85del Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 85 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. Missing (in allele KAP4.10). keratin filament p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2) kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC 0.646 32 48 --- --- --- --- CNKSR2 22866 broad.mit.edu 37 X 21627677 21627678 + In_Frame_Ins INS - - GAG TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd54bbfa-62a2-4d8b-88fb-b74b91e1b958 0a364971-3490-42ca-bd60-a031d081612d g.chrX:21627677_21627678insGAG ENST00000425654.2 + 19 3024_3025 c.2544_2545insGAG c.(2542-2547)gaagga>gaGAGagga p.848_849EG>ERG CNKSR2_ENST00000379510.3_In_Frame_Ins_p.878_879EG>ERG|CNKSR2_ENST00000543067.1_In_Frame_Ins_p.829_830EG>ERG|CNKSR2_ENST00000279451.4_In_Frame_Ins_p.878_879EG>ERG NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 878 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 aggtggaggaagaggaggagga 0.515 12 28 --- --- --- ---