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 NFYC 4802 broad.mit.edu 37 1 41204550 41204550 + Missense_Mutation SNP G G A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr1:41204550G>A ENST00000372652.1 + 2 303 c.35G>A c.(34-36)aGc>aAc p.S12N NFYC_ENST00000447388.3_Missense_Mutation_p.S12N|NFYC_ENST00000308733.5_Missense_Mutation_p.S12N|NFYC_ENST00000372651.1_Missense_Mutation_p.S12N|NFYC_ENST00000372654.1_Missense_Mutation_p.S12N|NFYC_ENST00000427410.2_Missense_Mutation_p.S12N|NFYC_ENST00000456393.2_Missense_Mutation_p.S12N|NFYC_ENST00000440226.3_Missense_Mutation_p.S12N|NFYC_ENST00000372653.1_Missense_Mutation_p.S12N|NFYC_ENST00000425457.2_Missense_Mutation_p.S12N Q13952 NFYC_HUMAN nuclear transcription factor Y, gamma 12 protein folding|regulation of transcription from RNA polymerase II promoter CCAAT-binding factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.72e-17) GGTACTAGCAGCAGTGATGCC 0.418 3 65 --- --- --- --- DOCK7 85440 broad.mit.edu 37 1 62941378 62941378 + Splice_Site SNP C C G TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr1:62941378C>G ENST00000251157.5 - 45 5961 c.5928G>C c.(5926-5928)gaG>gaC p.E1976D DOCK7_ENST00000340370.5_Splice_Site_p.E1956D|DOCK7_ENST00000489185.1_5'UTR NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1987 DHR-2. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 ATGGACTTACCTCTTCTTTAT 0.378 48 72 --- --- --- --- GTF2B 2959 broad.mit.edu 37 1 89319013 89319013 + Silent SNP A A T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr1:89319013A>T ENST00000370500.5 - 7 952 c.834T>A c.(832-834)gcT>gcA p.A278A NM_001514.5 NP_001505.1 Q00403 TF2B_HUMAN general transcription factor IIB 278 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 Lung NSC(277;0.123) all cancers(265;0.0131)|Epithelial(280;0.0255) CAGCAACACCAGCAATATCTC 0.398 49 59 --- --- --- --- OR2L2 26246 broad.mit.edu 37 1 248201938 248201938 + Silent SNP G G T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr1:248201938G>T ENST00000366479.2 + 1 465 c.369G>T c.(367-369)gtG>gtT p.V123V OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 123 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) ATCGTTATGTGGCCATTTGCT 0.438 57 62 --- --- --- --- APOB 338 broad.mit.edu 37 2 21231311 21231311 + Missense_Mutation SNP G G T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr2:21231311G>T ENST00000233242.1 - 26 8556 c.8429C>A c.(8428-8430)gCa>gAa p.A2810E NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 2810 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTGTGCATTTGCTTGAAAATC 0.453 42 115 --- --- --- --- C3orf79 152118 broad.mit.edu 37 3 153202433 153202433 + Missense_Mutation SNP A A C TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr3:153202433A>C ENST00000446603.2 + 1 150 c.88A>C c.(88-90)Act>Cct p.T30P RP11-23D24.2_ENST00000493214.2_RNA NM_001101337.1 NP_001094807.1 P0CE67 CC079_HUMAN chromosome 3 open reading frame 79 30 endometrium(1)|large_intestine(3) 4 TCTTCTGCCTACTCCTGAGCT 0.433 124 154 --- --- --- --- ELOVL6 79071 broad.mit.edu 37 4 110972803 110972803 + Silent SNP T T C TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr4:110972803T>C ENST00000394607.3 - 5 652 c.489A>G c.(487-489)ggA>ggG p.G163G ELOVL6_ENST00000302274.3_Silent_p.G163G Q9H5J4 ELOV6_HUMAN ELOVL fatty acid elongase 6 163 fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process fatty acid elongase activity|protein binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(123;0.00462) TGAACCAACCTCCCCCGGCAA 0.517 3 53 --- --- --- --- DNAH5 1767 broad.mit.edu 37 5 13700941 13700941 + Missense_Mutation SNP T T C TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr5:13700941T>C ENST00000265104.4 - 78 13635 c.13531A>G c.(13531-13533)Atg>Gtg p.M4511V NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4511 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CAAAGCACCATATTGTCCAGA 0.463 Kartagener syndrome 138 70 --- --- --- --- SYCP2L 221711 broad.mit.edu 37 6 10928671 10928671 + Silent SNP C C T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr6:10928671C>T ENST00000283141.6 + 18 1772 c.1476C>T c.(1474-1476)ttC>ttT p.F492F RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 492 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) tccctgacttcccgcaacaAC 0.498 24 25 --- --- --- --- CMTR1 23070 broad.mit.edu 37 6 37426394 37426394 + Silent SNP C C T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr6:37426394C>T ENST00000373451.4 + 9 948 c.784C>T c.(784-786)Ctg>Ttg p.L262L NM_015050.2 NP_055865.1 cap methyltransferase 1 262 GCAGAAGCCACTGGTGAAGGA 0.522 13 22 --- --- --- --- SDK1 221935 broad.mit.edu 37 7 3990593 3990593 + Missense_Mutation SNP G G T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr7:3990593G>T ENST00000404826.2 + 6 1025 c.886G>T c.(886-888)Gtg>Ttg p.V296L SDK1_ENST00000389531.3_Missense_Mutation_p.V296L NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 296 Ig-like C2-type 3. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CCCAACCATTGTGGTTCCCCC 0.552 30 49 --- --- --- --- KRIT1 889 broad.mit.edu 37 7 91870306 91870306 + Splice_Site SNP C C T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr7:91870306C>T ENST00000394507.1 - 6 1046 c.e6+1 KRIT1_ENST00000340022.2_Splice_Site|KRIT1_ENST00000394503.2_Splice_Site|KRIT1_ENST00000412043.2_Splice_Site|KRIT1_ENST00000394505.2_Splice_Site NM_194456.1 NP_919438.1 O00522 KRIT1_HUMAN KRIT1, ankyrin repeat containing angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AAGTTTCCTACCTCTGATACC 0.318 28 67 --- --- --- --- TRBV2 28620 broad.mit.edu 37 7 142000833 142000833 + RNA SNP C C A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr7:142000833C>A ENST00000455382.2 + 0 87 GGATACCTGGCTCGTATGCTG 0.478 33 85 --- --- --- --- PPP1R42 286187 broad.mit.edu 37 8 67922953 67922953 + Silent SNP C C G TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr8:67922953C>G ENST00000522909.1 - 5 733 c.549G>C c.(547-549)gtG>gtC p.V183V PPP1R42_ENST00000324682.5_Silent_p.V183V Q7Z4L9 LRC67_HUMAN protein phosphatase 1, regulatory subunit 42 183 ACACTACCTTCACATGCAGAA 0.254 11 69 --- --- --- --- PYROXD2 84795 broad.mit.edu 37 10 100150769 100150769 + Missense_Mutation SNP T T C TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr10:100150769T>C ENST00000370575.4 - 11 1181 c.1133A>G c.(1132-1134)aAt>aGt p.N378S PYROXD2_ENST00000483923.1_5'UTR NM_032709.2 NP_116098.2 Q8N2H3 PYRD2_HUMAN pyridine nucleotide-disulphide oxidoreductase domain 2 378 oxidoreductase activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 12 CCTCTTACCATTGATCTTGGT 0.547 10 166 --- --- --- --- FNBP4 23360 broad.mit.edu 37 11 47758292 47758292 + Splice_Site SNP G G C TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr11:47758292G>C ENST00000263773.5 - 9 1469 c.1457C>G c.(1456-1458)gCa>gGa p.A486G FNBP4_ENST00000534003.1_5'UTR NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 486 NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 AGCACCAATTGCTGTAAAAAA 0.303 3 0 --- --- --- --- SSH3 54961 broad.mit.edu 37 11 67079329 67079329 + Missense_Mutation SNP C C T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr11:67079329C>T ENST00000308127.4 + 14 2129 c.1951C>T c.(1951-1953)Cat>Tat p.H651Y SSH3_ENST00000308298.7_Missense_Mutation_p.H386Y|SSH3_ENST00000376757.5_3'UTR NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 651 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GGCCAGCGTGCATGACAGTGG 0.637 37 47 --- --- --- --- FOXA1 3169 broad.mit.edu 37 14 38061229 38061229 + Missense_Mutation SNP A A C TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr14:38061229A>C ENST00000250448.2 - 2 821 c.760T>G c.(760-762)Ttc>Gtc p.F254V FOXA1_ENST00000540786.1_Missense_Mutation_p.F221V|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 254 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) CCGTTCTCGAACATGTTGCCG 0.692 10 16 --- --- --- --- APBA2 321 broad.mit.edu 37 15 29393810 29393810 + Missense_Mutation SNP G G T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr15:29393810G>T ENST00000558402.1 + 11 1946 c.1347G>T c.(1345-1347)atG>atT p.M449I APBA2_ENST00000558330.1_Missense_Mutation_p.M437I|APBA2_ENST00000558259.1_Missense_Mutation_p.M449I|APBA2_ENST00000411764.1_Missense_Mutation_p.M437I|APBA2_ENST00000561069.1_Missense_Mutation_p.M449I Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 449 PID. nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) AGGAAACCATGATGGACCACG 0.577 3 26 --- --- --- --- INO80 54617 broad.mit.edu 37 15 41272519 41272519 + Missense_Mutation SNP G G T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr15:41272519G>T ENST00000361937.3 - 36 4997 c.4573C>A c.(4573-4575)Cct>Act p.P1525T INO80_ENST00000401393.3_Missense_Mutation_p.P1525T Q9ULG1 INO80_HUMAN INO80 complex subunit 1525 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 GGATTCCCAGGAACATTATTT 0.557 29 43 --- --- --- --- LCMT2 9836 broad.mit.edu 37 15 43620821 43620821 + Silent SNP A A G TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr15:43620821A>G ENST00000305641.5 - 1 1982 c.1867T>C c.(1867-1869)Ttg>Ctg p.L623L LCMT2_ENST00000544735.1_Silent_p.L202L|LCMT2_ENST00000567039.1_3'UTR NM_014793.4 NP_055608.2 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 623 tRNA processing methyltransferase activity|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1) 20 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) TCAGAGCTCAATCCTGTAGTC 0.443 42 34 --- --- --- --- VPS33B 26276 broad.mit.edu 37 15 91549633 91549633 + Missense_Mutation SNP C C A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr15:91549633C>A ENST00000333371.3 - 11 1174 c.821G>T c.(820-822)aGc>aTc p.S274I VPS33B_ENST00000535843.1_Missense_Mutation_p.S183I|VPS33B_ENST00000535906.1_Missense_Mutation_p.S247I NM_018668.3 NP_061138.3 Q9H267 VP33B_HUMAN vacuolar protein sorting 33 homolog B (yeast) 274 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2) 16 Lung NSC(78;0.0987)|all_lung(78;0.175) CACCTTCAGGCTCTTGTCAGA 0.562 4 106 --- --- --- --- CSNK2A2 1459 broad.mit.edu 37 16 58198010 58198010 + Missense_Mutation SNP C C A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr16:58198010C>A ENST00000262506.3 - 11 1201 c.1018G>T c.(1018-1020)Gct>Tct p.A340S CSNK2A2_ENST00000566813.1_5'UTR NM_001896.2 NP_001887.1 P19784 CSK22_HUMAN casein kinase 2, alpha prime polypeptide 340 axon guidance|Wnt receptor signaling pathway cytosol|nucleus ATP binding|protein N-terminus binding|protein serine/threonine kinase activity central_nervous_system(1) 1 GAAAGCACAGCATTGTCTGCA 0.527 3 40 --- --- --- --- NETO1 81832 broad.mit.edu 37 18 70461444 70461444 + Missense_Mutation SNP C C A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr18:70461444C>A ENST00000327305.6 - 6 1204 c.547G>T c.(547-549)Gtg>Ttg p.V183L NETO1_ENST00000299430.2_Missense_Mutation_p.V182L|NETO1_ENST00000583169.1_Missense_Mutation_p.V183L NM_138966.3 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 183 CUB 2. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) ATAGACTCCACAATTCCTTCG 0.433 3 58 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9057080 9057080 + Silent SNP G G T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr19:9057080G>T ENST00000397910.4 - 3 30569 c.30366C>A c.(30364-30366)atC>atA p.I10122I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10124 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCTCCGAGTGGATTGAAACAG 0.463 15 32 --- --- --- --- TGFB1 7040 broad.mit.edu 37 19 41858655 41858655 + Missense_Mutation SNP G G T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr19:41858655G>T ENST00000221930.5 - 1 1161 c.295C>A c.(295-297)Cct>Act p.P99T TMEM91_ENST00000539627.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron NM_000660.4 NP_000651.3 P01137 TGFB1_HUMAN transforming growth factor, beta 1 99 active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix growth factor activity|type II transforming growth factor beta receptor binding endometrium(1)|large_intestine(2)|lung(4)|skin(1) 8 Hyaluronidase(DB00070) TCGGCCTCAGGCTCGGGCTCC 0.731 OREG0025483 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 24 --- --- --- --- APOC4 346 broad.mit.edu 37 19 45445567 45445567 + Silent SNP G G T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr19:45445567G>T ENST00000419266.2 + 1 73 c.33G>T c.(31-33)ctG>ctT p.L11L APOC4_ENST00000592954.1_Silent_p.L11L|APOC4_ENST00000591600.1_Silent_p.L11L|APOC4-APOC2_ENST00000589057.1_Silent_p.L11L P55056 APOC4_HUMAN apolipoprotein C-IV lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis high-density lipoprotein particle|very-low-density lipoprotein particle lipid transporter activity breast(1)|endometrium(1)|lung(2) 4 Lung NSC(12;0.00858)|all_lung(12;0.0197) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178) TCCAGGCCCTGCCTGCCCTGT 0.657 3 30 --- --- --- --- ACTR5 79913 broad.mit.edu 37 20 37400382 37400382 + Missense_Mutation SNP G G A TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chr20:37400382G>A ENST00000243903.4 + 9 1784 c.1747G>A c.(1747-1749)Gcc>Acc p.A583T NM_024855.3 NP_079131.3 Q9H9F9 ARP5_HUMAN ARP5 actin-related protein 5 homolog (yeast) 583 DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair cytoplasm|Ino80 complex ATP binding|protein binding kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2) 12 Myeloproliferative disorder(115;0.00878) GCCGAAGCAGGCCTCCCGCTC 0.587 19 13 --- --- --- --- SRPX 8406 broad.mit.edu 37 X 38016273 38016273 + Missense_Mutation SNP A A T TCGA-EJ-7789-01A-11D-2114-08 TCGA-EJ-7789-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx d415be01-5bb2-4be0-9a02-9c70e461faa3 316e21f4-9c3d-41d4-aafd-5fb3c3743ba2 g.chrX:38016273A>T ENST00000378533.3 - 8 1071 c.965T>A c.(964-966)gTc>gAc p.V322D SRPX_ENST00000538295.1_Missense_Mutation_p.V322D|SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000432886.2_Missense_Mutation_p.V263D|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Missense_Mutation_p.V309D|SRPX_ENST00000544439.1_Missense_Mutation_p.V302D NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 322 cell adhesion cell surface|membrane autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 ACCCACATTGACGTTCATGGC 0.478 7 30 --- --- --- ---