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 CHD4 1108 broad.mit.edu 37 12 6700638 6700638 + Missense_Mutation SNP A A G TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr12:6700638A>G ENST00000309577.6 - 22 3497 c.3334T>C c.(3334-3336)Ttc>Ctc p.F1112L CHD4_ENST00000357008.2_Missense_Mutation_p.F1112L|CHD4_ENST00000544484.1_Missense_Mutation_p.F1109L|CHD4_ENST00000544040.1_Missense_Mutation_p.F1105L Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1112 Helicase C-terminal. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TCACCATTGAAGCGGTCAATG 0.433000 32 33 0 0 1 0 0 HLA-C 3107 broad.mit.edu 37 6 31237836 31237836 + Missense_Mutation SNP T T C TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr6:31237836T>C ENST00000383329.3 - 5 936 c.922A>G c.(922-924)Atc>Gtc p.I308V HLA-C_ENST00000376228.5_Missense_Mutation_p.I308V Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 308 Connecting peptide. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 ATGCCCATGATGGGGATGGTG 0.612000 14 48 0 0 1 0 0 ANKRD12 23253 broad.mit.edu 37 18 9281098 9281098 + Missense_Mutation SNP G G T TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr18:9281098G>T ENST00000383440.2 + 12 6351 c.6094G>T c.(6094-6096)Gac>Tac p.D2032Y ANKRD12_ENST00000400020.3_Missense_Mutation_p.D2032Y|ANKRD12_ENST00000262126.3_Missense_Mutation_p.D2055Y NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 2055 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 TGATGTTAACGACGACTTTGA 0.408000 44 64 3.76604e-16 4.09352e-16 1 1 0 OXGR1 27199 broad.mit.edu 37 13 97639792 97639792 + Silent SNP G G A TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr13:97639792G>A ENST00000298440.1 - 4 465 c.222C>T c.(220-222)aaC>aaT p.N74N OXGR1_ENST00000543457.1_Silent_p.N74N NM_080818.3 NP_543008.3 Q96P68 OXGR1_HUMAN oxoglutarate (alpha-ketoglutarate) receptor 1 74 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 all_neural(89;0.0982)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.186) TGCAGGCCAGGTTCAGCATAA 0.458000 34 40 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62293943 62293943 + Missense_Mutation SNP G G T TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr11:62293943G>T ENST00000378024.4 - 5 8220 c.7946C>A c.(7945-7947)cCt>cAt p.P2649H AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2649 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TTTGAAGCCAGGCATGCTGAA 0.527000 49 240 7.88023e-25 9.09257e-25 1 1 0 TMTC4 84899 broad.mit.edu 37 13 101315367 101315367 + Missense_Mutation SNP T T C TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr13:101315367T>C ENST00000342624.5 - 5 661 c.403A>G c.(403-405)Agt>Ggt p.S135G TMTC4_ENST00000376234.3_Missense_Mutation_p.S116G|TMTC4_ENST00000328767.5_Intron NM_032813.2 NP_116202.2 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat containing 4 116 integral to membrane binding breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GAGATGCCACTGTGCAGGAGG 0.597000 49 138 0 0 1 0 0 DCLK1 9201 broad.mit.edu 37 13 36686233 36686233 + Silent SNP G G A TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr13:36686233G>A ENST00000255448.4 - 3 707 c.496C>T c.(496-498)Ctg>Ttg p.L166L DCLK1_ENST00000379892.4_Silent_p.L166L|DCLK1_ENST00000360631.3_Silent_p.L166L NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 166 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) GCAGTGGCCAGTGAAGACACT 0.537000 58 58 0 0 1 0 0 TGFB1 7040 broad.mit.edu 37 19 41848131 41848131 + Missense_Mutation SNP A A C TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr19:41848131A>C ENST00000221930.5 - 4 1522 c.656T>G c.(655-657)cTt>cGt p.L219R NM_000660.4 NP_000651.3 P01137 TGFB1_HUMAN transforming growth factor, beta 1 219 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) GTGGGCGCTAAGGCGAAAGCC 0.592000 20 14 0 0 1 0 0 IL1RL2 8808 broad.mit.edu 37 2 102805588 102805588 + Silent SNP T T C TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr2:102805588T>C ENST00000264257.2 + 3 237 c.111T>C c.(109-111)ccT>ccC p.P37P IL1RL2_ENST00000539491.1_Silent_p.P37P|IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000441515.2_Intron NM_003854.2 NP_003845.2 Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 37 Ig-like C2-type 1. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 CAAGCCAGCCTTTTGCTTTTA 0.343000 18 24 0 0 1 0 0 F10 2159 broad.mit.edu 37 13 113777240 113777240 + Splice_Site SNP G G A TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr13:113777240G>A ENST00000375559.3 + 1 108 c.e1+1 F10_ENST00000483537.1_Splice_Site|F10_ENST00000409306.1_Splice_Site|F10_ENST00000375551.3_Splice_Site NM_000504.3 NP_000495.1 P00742 FA10_HUMAN coagulation factor X blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) GGGGAAAGTCGTAAGTGCCCC 0.662000 35 19 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123844141 123844141 + Missense_Mutation SNP G G T TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr10:123844141G>T ENST00000369005.1 + 4 2466 c.2126G>T c.(2125-2127)aGa>aTa p.R709I TACC2_ENST00000515603.1_Missense_Mutation_p.R709I|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.R709I|TACC2_ENST00000453444.2_Missense_Mutation_p.R709I|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.R709I NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 709 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GGATTGGGAAGAATGGAGTCT 0.527000 31 20 3.80469e-20 4.32352e-20 1 1 0 TTC7B 145567 broad.mit.edu 37 14 91142978 91142978 + Missense_Mutation SNP C C A TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr14:91142978C>A ENST00000357056.2 - 9 1162 c.1041G>T c.(1039-1041)agG>agT p.R347S TTC7B_ENST00000328459.6_Missense_Mutation_p.R347S Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 347 binding NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 36 Melanoma(154;0.222) GTTCAGGTATCCTGCTCAGCA 0.527000 58 70 7.50695e-29 8.79721e-29 1 1 0 UBXN7 26043 broad.mit.edu 37 3 196094903 196094903 + Missense_Mutation SNP C C T TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr3:196094903C>T ENST00000296328.4 - 8 904 c.830G>A c.(829-831)cGt>cAt p.R277H UBXN7_ENST00000428095.1_Missense_Mutation_p.R115H|UBXN7_ENST00000535858.1_Missense_Mutation_p.R129H NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 277 protein binding NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 ACTTACTGAACGGGCACATTT 0.383000 34 31 0 0 1 0 0 PCDHA7 0 broad.mit.edu 37 5 140215891 140215891 + Silent SNP C C T TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr5:140215891C>T ENST00000525929.1 + 1 1923 c.1923C>T c.(1921-1923)gaC>gaT p.D641D PCDHA7_ENST00000378125.3_Silent_p.D641D|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGAGACGGACGCACCGCGCC 0.662000 30 117 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179702420 179702420 + Nonsense_Mutation SNP G G A rs143765782 byFrequency TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr2:179702420G>A ENST00000420890.2 - 23 3643 c.3526C>T c.(3526-3528)Cga>Tga p.R1176* CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Nonsense_Mutation_p.R601* NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 601 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TGTGGTAGTCGCTCTTCCCCT 0.483000 36 54 0 0 1 0 0 CCDC107 203260 broad.mit.edu 37 9 35660818 35660818 + Nonstop_Mutation SNP T T C TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr9:35660818T>C ENST00000327351.2 + 5 529 c.466T>C c.(466-468)Tag>Cag p.*156Q ARHGEF39_ENST00000378387.3_3'UTR|CCDC107_ENST00000378406.1_3'UTR|CCDC107_ENST00000421582.2_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000378407.3_3'UTR|ARHGEF39_ENST00000343259.3_3'UTR|CCDC107_ENST00000426546.2_Silent_p.D162D|CCDC107_ENST00000378409.3_Silent_p.D162D Q8WV48 CC107_HUMAN coiled-coil domain containing 107 0 integral to membrane endometrium(1)|lung(3)|skin(1) 5 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGCTGCAAGATAGCAAGCCGG 0.537000 107 149 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11589625 11589625 + Silent SNP C C T TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr1:11589625C>T ENST00000294484.6 + 14 2949 c.2811C>T c.(2809-2811)ttC>ttT p.F937F PTCHD2_ENST00000389575.3_Silent_p.F937F NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 937 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-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;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) AGCTGTACTTCGCCCAGTCCC 0.652000 39 106 0 0 1 0 0 NIPA2 81614 broad.mit.edu 37 15 23006811 23006811 + Silent SNP A A G TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr15:23006811A>G ENST00000337451.3 - 8 1105 c.493T>C c.(493-495)Tta>Cta p.L165L NIPA2_ENST00000359727.4_Silent_p.L146L|NIPA2_ENST00000398014.2_Silent_p.L165L|NIPA2_ENST00000398013.3_Silent_p.L165L|NIPA2_ENST00000539711.2_Silent_p.L146L NM_030922.6 NP_112184.4 Q8N8Q9 NIPA2_HUMAN non imprinted in Prader-Willi/Angelman syndrome 2 165 early endosome|integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1) 15 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353) ACGAAGATTAATATCAAGGCC 0.448000 13 43 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33658404 33658404 + Missense_Mutation SNP C C T TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr5:33658404C>T ENST00000504830.1 - 7 1410 c.1075G>A c.(1075-1077)Gag>Aag p.E359K ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E359K|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 359 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 CCCAGGGTCTCGCAGGGGCGA 0.498000 HNSCC(64;0.19) 6 108 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3432185 3432185 + Missense_Mutation SNP G G A TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr4:3432185G>A ENST00000336727.3 + 17 4521 c.3617G>A c.(3616-3618)cGt>cAt p.R1206H RGS12_ENST00000306648.7_Missense_Mutation_p.V553M|RGS12_ENST00000338806.4_Missense_Mutation_p.R558H|RGS12_ENST00000382788.3_Missense_Mutation_p.R1206H|RGS12_ENST00000344733.5_Missense_Mutation_p.R1206H|RGS12_ENST00000538395.1_Missense_Mutation_p.V497M NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1206 GoLoco. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GATGACCAACGTGGGCTGCTA 0.493000 33 84 0 0 1 0 0 CTSC 1075 broad.mit.edu 37 11 88027241 88027241 + Missense_Mutation SNP C C T TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr11:88027241C>T ENST00000227266.5 - 7 1439 c.1325G>A c.(1324-1326)cGc>cAc p.R442H NM_001814.4 NP_001805.3 P53634 CATC_HUMAN cathepsin C 442 immune response lysosome cysteine-type endopeptidase activity large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2) 22 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AGTTCCTCTGCGGATCCGGAA 0.498000 36 46 0 0 1 0 0 ABR 29 broad.mit.edu 37 17 915093 915093 + Missense_Mutation SNP G G T TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr17:915093G>T ENST00000544583.2 - 19 2555 c.1956C>A c.(1954-1956)ttC>ttA p.F652L ABR_ENST00000291107.2_Missense_Mutation_p.F661L|ABR_ENST00000302538.5_Missense_Mutation_p.F698L|ABR_ENST00000572441.1_Intron|ABR_ENST00000543210.2_Missense_Mutation_p.F149L|ABR_ENST00000536794.2_Missense_Mutation_p.F480L|ABR_ENST00000574437.1_Missense_Mutation_p.F652L NM_001159746.2 NP_001153218.1 Q12979 ABR_HUMAN active BCR-related 698 Rho-GAP. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) CACTGGCATCGAAGACGGCCT 0.647000 15 22 3.35478e-16 3.70012e-16 1 1 0 TSPAN33 340348 broad.mit.edu 37 7 128806668 128806668 + Missense_Mutation SNP A A T TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr7:128806668A>T ENST00000289407.4 + 6 618 c.509A>T c.(508-510)tAt>tTt p.Y170F NM_178562.3 NP_848657.1 Q86UF1 TSN33_HUMAN tetraspanin 33 170 integral to membrane NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 CAGAACATGTATTTCAACTGC 0.527000 103 73 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79059182 79059182 + Missense_Mutation SNP T T C rs143974743 TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr15:79059182T>C ENST00000388820.4 - 19 3281 c.3071A>G c.(3070-3072)cAc>cGc p.H1024R ADAMTS7_ENST00000566303.1_5'UTR NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1024 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.H1024R(2) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 GGCCAGGTGGTGCGGGATGAA 0.682000 6 30 0 0 1 0 0 KIAA2013 90231 broad.mit.edu 37 1 11985518 11985518 + Silent SNP C C A TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr1:11985518C>A ENST00000376572.3 - 1 962 c.777G>T c.(775-777)gtG>gtT p.V259V KIAA2013_ENST00000376576.3_Silent_p.V259V NM_138346.2 NP_612355.1 Q8IYS2 K2013_HUMAN KIAA2013 259 integral to membrane endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 7 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCACCAGGTGCACCAACCCAG 0.647000 20 16 3.51602e-12 3.7141e-12 1 1 0 C11orf30 56946 broad.mit.edu 37 11 76234280 76234280 + Missense_Mutation SNP C C T TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr11:76234280C>T ENST00000529032.1 + 11 1766 c.1766C>T c.(1765-1767)aCg>aTg p.T589M C11orf30_ENST00000334736.3_Missense_Mutation_p.T589M|C11orf30_ENST00000524767.1_Missense_Mutation_p.T604M|C11orf30_ENST00000343878.3_Missense_Mutation_p.T589M|C11orf30_ENST00000525919.1_Missense_Mutation_p.T590M|C11orf30_ENST00000524490.1_Missense_Mutation_p.T505M|C11orf30_ENST00000525038.1_Missense_Mutation_p.T604M|C11orf30_ENST00000533248.1_Missense_Mutation_p.T603M Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 589 Thr-rich. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 GGAAAAGGAACGACCATTCAA 0.438000 35 40 0 0 1 0 0 FAM213A 84293 broad.mit.edu 37 10 82187209 82187209 + Missense_Mutation SNP G G T rs142605674 TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr10:82187209G>T ENST00000372181.1 + 4 1003 c.533G>T c.(532-534)gGc>gTc p.G178V FAM213A_ENST00000372187.5_Missense_Mutation_p.G178V|FAM213A_ENST00000372185.1_Missense_Mutation_p.G167V|FAM213A_ENST00000372188.1_Missense_Mutation_p.G178V NM_001243778.1|NM_001243782.1 NP_001230707.1|NP_001230711.1 Q9BRX8 CJ058_HUMAN family with sequence similarity 213, member A 178 extracellular region GAAGGAGAAGGCTTCATCCTT 0.507000 13 31 0.00136819 0.00138668 1 1 0 CCDC88B 283234 broad.mit.edu 37 11 64111779 64111779 + Missense_Mutation SNP C C A TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr11:64111779C>A ENST00000356786.5 + 14 1810 c.1766C>A c.(1765-1767)cCg>cAg p.P589Q CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 589 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CAGGAGTCCCCGGAGAAGGCT 0.647000 47 51 6.4771e-29 7.71083e-29 1 1 0 FAT3 120114 broad.mit.edu 37 11 92531160 92531160 + Missense_Mutation SNP G G A TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr11:92531160G>A ENST00000298047.6 + 9 4998 c.4981G>A c.(4981-4983)Gtc>Atc p.V1661I FAT3_ENST00000409404.2_Missense_Mutation_p.V1661I|FAT3_ENST00000525166.1_Missense_Mutation_p.V1511I Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1661 Cadherin 15. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GCGCATTTCCGTCACCATGTC 0.443000 TCGA Ovarian(4;0.039) 22 66 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62586895 62586895 + Missense_Mutation SNP G G A TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr1:62586895G>A ENST00000371158.2 + 38 5047 c.4933G>A c.(4933-4935)Gct>Act p.A1645T INADL_ENST00000472512.1_3'UTR NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1645 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 TCCCTCCTTCGCTCCTGTCAT 0.507000 49 53 0 0 1 0 0 OR4A16 81327 broad.mit.edu 37 11 55110833 55110833 + Silent SNP T T C TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr11:55110833T>C ENST00000314721.2 + 1 207 c.157T>C c.(157-159)Ttg>Ctg p.L53L NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L53V(1) NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 CAGCCCCTCCTTGGGCTCCCT 0.408000 29 103 0 0 1 0 0 ERBB2IP 55914 broad.mit.edu 37 5 65370850 65370850 + Splice_Site SNP A A G TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr5:65370850A>G ENST00000284037.5 + 23 4145 c.e23-1 ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000380938.2_Splice_Site|ERBB2IP_ENST00000380939.2_Splice_Site|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000511297.1_Splice_Site|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000416865.2_Splice_Site|ERBB2IP_ENST00000506030.1_Splice_Site|ERBB2IP_ENST00000380936.1_Splice_Site|ERBB2IP_ENST00000380943.2_Splice_Site NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) TGTTTTTCTTAGATGCCTTTG 0.398000 30 18 0 0 1 0 0 CYP2E1 1571 broad.mit.edu 37 10 135346210 135346210 + Silent SNP T T C TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr10:135346210T>C ENST00000463117.2 + 7 935 c.663T>C c.(661-663)ttT>ttC p.F221F CYP2E1_ENST00000252945.3_Silent_p.F221F|SPRN_ENST00000541506.1_Intron P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, polypeptide 1 221 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) ACAATAATTTTCCCAGCTTTC 0.378000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 5 154 0 0 1 0 0 TPX2 22974 broad.mit.edu 37 20 30354424 30354424 + Missense_Mutation SNP G G T TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr20:30354424G>T ENST00000340513.4 + 5 823 c.295G>T c.(295-297)Gct>Tct p.A99S TPX2_ENST00000300403.6_Missense_Mutation_p.A99S Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated 99 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) TCCGTCAAATGCTTGTTCTTC 0.428000 41 112 1.47197e-15 1.57711e-15 1 1 0 ALCAM 214 broad.mit.edu 37 3 105260603 105260603 + Missense_Mutation SNP G G T TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr3:105260603G>T ENST00000306107.5 + 8 1485 c.985G>T c.(985-987)Gtt>Ttt p.V329F ALCAM_ENST00000486979.2_Missense_Mutation_p.V278F|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Missense_Mutation_p.V329F NM_001627.3 NP_001618.2 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 329 cell adhesion|signal transduction integral to membrane receptor binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 AGCTATCACAGTTCACTGTAA 0.393000 31 17 8.16721e-17 9.1424e-17 1 1 0 SNHG14 0 broad.mit.edu 37 15 25332840 25332840 + RNA SNP T T A TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr15:25332840T>A ENST00000546682.1 + 0 586 SNHG14_ENST00000553108.1_RNA|SNORD116-21_ENST00000384529.1_lincRNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 TATACATTCCTTGGAAAGCTG 0.443000 11 110 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67680200 67680200 + Missense_Mutation SNP C C T TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr16:67680200C>T ENST00000334583.6 + 5 689 c.361C>T c.(361-363)Cgc>Tgc p.R121C RLTPR_ENST00000545661.1_Missense_Mutation_p.R121C NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 121 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GGTCTTCCCTCGCTCGACCCT 0.637000 14 27 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207175965 207175965 + Missense_Mutation SNP A A T TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr2:207175965A>T ENST00000374423.3 + 5 7099 c.6713A>T c.(6712-6714)tAt>tTt p.Y2238F NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 2238 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 CGTCATAGATATCAGTCCAGG 0.373000 12 17 0 0 1 0 0 COLEC12 81035 broad.mit.edu 37 18 321700 321700 + Missense_Mutation SNP T T C TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr18:321700T>C ENST00000400256.3 - 9 2378 c.2171A>G c.(2170-2172)gAc>gGc p.D724G NM_130386.2 NP_569057.1 Q5KU26 COL12_HUMAN collectin sub-family member 12 724 C-type lectin. carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) GTTATTGACGTCTTCACATTG 0.502000 6 295 0 0 1 0 0 TDRD10 126668 broad.mit.edu 37 1 154493952 154493952 + Silent SNP G G A TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr1:154493952G>A ENST00000368482.4 + 6 1204 c.366G>A c.(364-366)ccG>ccA p.P122P TDRD10_ENST00000368480.3_Silent_p.P122P|TDRD10_ENST00000479937.1_3'UTR NM_001098475.1|NM_182499.3 NP_001091945.1|NP_872305.3 Q5VZ19 TDR10_HUMAN tudor domain containing 10 122 nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) CTCGGGCCCCGCTGGTATGTC 0.527000 91 103 0 0 1 0 0 FZD2 2535 broad.mit.edu 37 17 42636256 42636256 + Silent SNP C C G TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr17:42636256C>G ENST00000315323.3 + 1 1332 c.1200C>G c.(1198-1200)ggC>ggG p.G400G NM_001466.3 NP_001457.1 Q14332 FZD2_HUMAN frizzled family receptor 2 400 axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8) 33 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) TGCTGAGCGGCGTGTGCTTCG 0.662000 84 8 0 0 1 0 0 FBXW7 0 broad.mit.edu 37 4 153244092 153244092 + Missense_Mutation SNP G G A TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr4:153244092G>A ENST00000281708.4 - 12 3294 c.2065C>T c.(2065-2067)Cgg>Tgg p.R689W FBXW7_ENST00000263981.5_Missense_Mutation_p.R609W|FBXW7_ENST00000393956.3_Missense_Mutation_p.R513W|FBXW7_ENST00000296555.5_Missense_Mutation_p.R571W|FBXW7_ENST00000603841.1_Missense_Mutation_p.R689W|FBXW7_ENST00000603548.1_Missense_Mutation_p.R689W NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 689 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R689W(10)|p.R450W(3)|p.R609W(3)|p.R571W(1)|p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) GTCCCATTCCGACTCCCAACT 0.478000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 60 69 0 0 1 0 0 ARR3 407 broad.mit.edu 37 X 69489951 69489951 + Splice_Site SNP C C T TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chrX:69489951C>T ENST00000374495.3 + 5 200 c.100_splice c.e5-1 p.D34_splice ARR3_ENST00000307959.8_Splice_Site_p.D34_splice P36575 ARRC_HUMAN arrestin 3, retinal (X-arrestin) 34 signal transduction|visual perception cytoplasm|soluble fraction endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1) 16 TCTCCACAGACGGTGTTGTCC 0.433000 24 4 0 0 1 0 0 ZCCHC6 79670 broad.mit.edu 37 9 88938512 88938512 + Missense_Mutation SNP C C T TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr9:88938512C>T ENST00000277141.6 - 14 2444 c.20G>A c.(19-21)aGt>aAt p.S7N ZCCHC6_ENST00000375963.3_Missense_Mutation_p.S718N|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.S718N|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.S595N Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 718 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 AGGGTGGACACTGATGTGTTC 0.413000 22 68 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466006 56466006 + Silent SNP G G A TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr19:56466006G>A ENST00000291971.3 + 3 653 c.582G>A c.(580-582)ctG>ctA p.L194L NLRP8_ENST00000590542.1_Silent_p.L194L NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 194 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GTCTGCTTCTGCCCAAAAGAC 0.522000 56 46 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752538 62752538 + RNA SNP G G T TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr7:62752538G>T ENST00000331425.6 - 0 897 NR_003952.1 TGAGGGTTGAGGATACGCTAA 0.473000 11 20 2.61681e-11 2.72585e-11 1 1 0 ADAMTS16 170690 broad.mit.edu 37 5 5200325 5200325 + Missense_Mutation SNP G G A TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr5:5200325G>A ENST00000274181.7 + 9 1532 c.1394G>A c.(1393-1395)cGc>cAc p.R465H ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R465H NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 465 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 TTGGCAGGACGCAATGGAGTC 0.483000 31 17 0 0 1 0 0 RP11-483E23.2 0 broad.mit.edu 37 15 28600002 28600002 + RNA SNP T T A TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr15:28600002T>A ENST00000568624.1 - 0 404 TTCGTATGGTTTGAACCTGGG 0.493000 4 62 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr3:178952085A>G ENST00000263967.3 + 21 3297 c.3140A>G c.(3139-3141)cAt>cGt p.H1047R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1387)|p.H1047L(194)|p.H1047P(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378000 H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 38 38 0 0 1 0 0 MYF5 4617 broad.mit.edu 37 12 81111292 81111292 + Silent SNP A A T TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr12:81111292A>T ENST00000228644.3 + 1 602 c.450A>T c.(448-450)ggA>ggT p.G150G NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 150 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 GCCTGCCGGGACAGAGCTGCT 0.557000 93 137 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142641781 142641781 + Silent SNP G G A TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr7:142641781G>A ENST00000355265.2 - 12 1836 c.1362C>T c.(1360-1362)ctC>ctT p.L454L NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 454 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GAAGGTTTCTGAGGCGAGTGA 0.602000 8 21 0 0 1 0 0 RARG 5916 broad.mit.edu 37 12 53606944 53606944 + Missense_Mutation SNP G G A rs143739684 TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr12:53606944G>A ENST00000425354.2 - 9 1589 c.1102C>T c.(1102-1104)Cgg>Tgg p.R368W RARG_ENST00000327550.3_Missense_Mutation_p.R296W|RARG_ENST00000338561.5_Missense_Mutation_p.R357W|RARG_ENST00000543726.1_Missense_Mutation_p.R346W|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.R368W NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 368 Ligand-binding. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) CTGGGCCGCCGGCGCCGGGCG 0.602000 OREG0021862 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 58 0 0 1 0 0 CLEC17A 388512 broad.mit.edu 37 19 14707736 14707736 + Missense_Mutation SNP G G T TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr19:14707736G>T ENST00000547437.1 + 9 571 c.494G>T c.(493-495)tGc>tTc p.C165F CLEC17A_ENST00000397439.2_Missense_Mutation_p.C148F|CLEC17A_ENST00000417570.1_Missense_Mutation_p.C165F NM_207390.3 NP_997273.3 Q6ZS10 CL17A_HUMAN C-type lectin domain family 17, member A 165 cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity CCTGGCTGCTGCCAGAAGAGG 0.572000 7 6 0.00198382 0.00198382 1 1 0 SH3GL3 6457 broad.mit.edu 37 15 84257518 84257518 + Missense_Mutation SNP C C A TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr15:84257518C>A ENST00000324537.5 + 11 1349 c.857C>A c.(856-858)aCg>aAg p.T286K SH3GL3_ENST00000535412.1_Missense_Mutation_p.T278K|SH3GL3_ENST00000434347.1_Missense_Mutation_p.T286K|SH3GL3_ENST00000427482.2_Missense_Mutation_p.T278K Q99963 SH3G3_HUMAN SH3-domain GRB2-like 3 278 SH3. central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 GTAGTGAAGACGACAGGTAAG 0.443000 20 13 2.94398e-08 3.02464e-08 1 1 0 NDN 4692 broad.mit.edu 37 15 23931940 23931940 + Missense_Mutation SNP C C T TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr15:23931940C>T ENST00000331837.4 - 1 510 c.425G>A c.(424-426)cGc>cAc p.R142H NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 142 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding p.R142H(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GAGGCTGGTGCGCCGGAGGAT 0.587000 Prader-Willi syndrome 21 16 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17084768 17084768 + RNA SNP G G C rs151331911 by1000genomes TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr1:17084768G>C ENST00000455405.2 - 0 248 TAGAGACCCCGCGCAGAAATG 0.572000 3 37 0 0 1 0 0 PCDHA6 0 broad.mit.edu 37 5 140209120 140209120 + Missense_Mutation SNP G G A TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr5:140209120G>A ENST00000529310.1 + 1 1558 c.1444G>A c.(1444-1446)Gcg>Acg p.A482T PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.A482T|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCGCGAGACGCGGACGCGCA 0.657000 67 88 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6965302 6965302 + Nonsense_Mutation SNP G G A TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr18:6965302G>A ENST00000389658.3 - 50 7273 c.7180C>T c.(7180-7182)Cga>Tga p.R2394* NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2394 Laminin G-like 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTCCGGTTTCGCTGGAAGGCA 0.443000 50 42 0 0 1 0 0 GJA8 2703 broad.mit.edu 37 1 147380635 147380635 + Missense_Mutation SNP C C T TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr1:147380635C>T ENST00000240986.4 + 2 606 c.553C>T c.(553-555)Cgg>Tgg p.R185W GJA8_ENST00000369235.1_Missense_Mutation_p.R185W NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 185 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) CCGCTGCAGCCGGTGGCCCTG 0.567000 6 140 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 64021494 64021494 + Missense_Mutation SNP C C T TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr15:64021494C>T ENST00000443617.2 - 16 3182 c.3095G>A c.(3094-3096)cGt>cAt p.R1032H NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 1032 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 ATTTGCAGAACGTGAATAAAT 0.343000 5 19 0 0 1 0 0 CAMK2G 818 broad.mit.edu 37 10 75597241 75597241 + Missense_Mutation SNP C C T TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr10:75597241C>T ENST00000444854.2 - 6 496 c.376G>A c.(376-378)Gga>Aga p.G126R CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000322680.3_Silent_p.S325S|CAMK2G_ENST00000423381.1_Silent_p.S346S|CAMK2G_ENST00000394762.2_Silent_p.S325S|CAMK2G_ENST00000372765.1_Silent_p.S346S|CAMK2G_ENST00000351293.3_Silent_p.S325S|CAMK2G_ENST00000322635.3_Silent_p.S346S|CAMK2G_ENST00000305762.7_Silent_p.S325S Q13555 KCC2G_HUMAN calcium/calmodulin-dependent protein kinase II gamma 0 Protein kinase. insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 15 Prostate(51;0.0112) CACCGCCATCCGACTTCTTGT 0.522000 134 102 0 0 1 0 0 AC009499.1 0 broad.mit.edu 37 2 33952656 33952656 + RNA SNP C C T TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr2:33952656C>T ENST00000366209.2 + 0 68 MYADML_ENST00000474610.1_RNA AAGACGATGGCGGCGATGGCG 0.647000 32 27 0 0 1 0 0 AGAP4 119016 broad.mit.edu 37 10 46322004 46322004 + Missense_Mutation SNP G G A TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr10:46322004G>A ENST00000448048.2 - 7 1476 c.1351C>T c.(1351-1353)Cgt>Tgt p.R451C NM_133446.2 NP_597703.2 Q96P64 AGAP4_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 451 Arf-GAP. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding central_nervous_system(1)|lung(1)|ovary(1) 3 GCGTTCCCACGCATGTTTTGG 0.557000 26 149 0 0 1 0 0 CATSPER1 117144 broad.mit.edu 37 11 65792758 65792758 + Missense_Mutation SNP G G A TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr11:65792758G>A ENST00000312106.5 - 1 1230 c.1093C>T c.(1093-1095)Cgg>Tgg p.R365W NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 365 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 CTGGAGGACCGAGTCATGCTG 0.567000 34 40 0 0 1 0 0 MT-ND1 4535 broad.mit.edu 37 MT 4172 4172 + Missense_Mutation SNP T T C TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chrM:4172T>C ENST00000361390.2 + 1 866 c.866T>C c.(865-867)cTa>cCa p.289_289insP mitochondrially encoded NADH dehydrogenase 1 breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1) 34 CATACACCTCCTATGAAAAAA 0.423000 42 1 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23885021 23885021 + Silent SNP G G A TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr14:23885021G>A ENST00000355349.3 - 35 5136 c.4974C>T c.(4972-4974)gaC>gaT p.D1658D NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1658 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) GGACTGCATCGTCCAGCTGAA 0.612000 28 32 0 0 1 0 0 DEPDC7 91614 broad.mit.edu 37 11 33047304 33047304 + Missense_Mutation SNP G G A TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr11:33047304G>A ENST00000311388.3 + 2 522 c.146G>A c.(145-147)cGt>cAt p.R49H DEPDC7_ENST00000241051.3_Missense_Mutation_p.R58H NM_139160.2 NP_631899.2 Q96QD5 DEPD7_HUMAN DEP domain containing 7 58 DEP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 17 CGAAGGCACCGTTTAAAACGA 0.393000 57 42 0 0 1 0 0 SEC22B 9554 broad.mit.edu 37 1 145109284 145109292 + RNA DEL AAAAAAAAA AAAAAAAAA - rs77820797 TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr1:145109284_145109292delAAAAAAAAA ENST00000453618.1 + 0 512 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding actccgtctcaaaaaaaaagaaaaaaaaa 0.435 3 4 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145109975 145109976 + RNA INS - - C rs67257307 TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr1:145109975_145109976insC ENST00000453618.1 + 0 673 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding CAGGAACTTTGCTAAAGATCTA 0.386 2 4 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145112049 145112050 + RNA INS - - GTG rs138512423 TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr1:145112049_145112050insGTG ENST00000453618.1 + 0 673 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding caggctaaagtgtggtggtgtg 0.480 2 4 --- --- --- --- RP11-458D21.1 0 broad.mit.edu 37 1 145381924 145381925 + RNA INS - - A rs34675346 TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr1:145381924_145381925insA ENST00000419817.1 - 0 307 gactccgtctcaaaaaaaaaaa 0.490 3 3 --- --- --- --- AC113610.1 0 broad.mit.edu 37 2 151095705 151095705 + RNA DEL A A - TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr2:151095705delA ENST00000429317.1 - 0 254 AC016682.1_ENST00000437118.1_lincRNA gctcatgtctactcctgagtg 0.463 2 4 --- --- --- --- RP11-1252I4.2 0 broad.mit.edu 37 5 177406055 177406056 + RNA DEL AC AC - rs70994952 TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr5:177406055_177406056delAC ENST00000511650.1 + 0 145 tgtgtgAAAGACAGACACAGAG 0.530 2 4 --- --- --- --- POLR2J4 0 broad.mit.edu 37 7 44018523 44018526 + RNA DEL TGAG TGAG - rs58670391 TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr7:44018523_44018526delTGAG ENST00000427076.1 - 0 894 NR_003655.2 agtgtgggaatgagtgagtgagtg 0.529 2 4 --- --- --- --- AZGP1P1 0 broad.mit.edu 37 7 99578706 99578706 + RNA DEL A A - TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr7:99578706delA ENST00000425474.1 + 0 87 NR_036679.1 cttagtttacagtgaaaacaa 0.522 4 7 --- --- --- --- LRRC4 64101 broad.mit.edu 37 7 127670673 127670674 + Frame_Shift_Ins INS - - A TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr7:127670673_127670674insA ENST00000249363.3 - 2 277_278 c.20_21insT c.(19-21)gacfs p.D7fs SND1_ENST00000354725.3_Intron NM_022143.4 NP_071426.1 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 7 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2) 26 Lung(243;0.124) GGTGCACAGTTACCTGCCACAA 0.574 23 101 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6673270 6673270 + RNA DEL A A - TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr8:6673270delA ENST00000518724.1 - 0 1071 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) AGCCCATTGTAAAAAAAAAAA 0.502 OREG0018511 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 3 --- --- --- --- CASC8 0 broad.mit.edu 37 8 128476506 128476507 + RNA INS - - ACACAC rs58365041 TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr8:128476506_128476507insACACAC ENST00000502082.1 - 0 1041 CASC8_ENST00000502056.1_RNA CTCCTTCTCCTacacacacaca 0.500 2 4 --- --- --- --- ZFP36L1 677 broad.mit.edu 37 14 69257046 69257073 + Frame_Shift_Del DEL TCACCCTTGAGGCTGCTGAGGAGCTGGT TCACCCTTGAGGCTGCTGAGGAGCTGGT - TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr14:69257046_69257073delTCACCCTTGAGGCTGCTGAGGAGCTGGT ENST00000439696.2 - 2 495_522 c.194_221delACCAGCTCCTCAGCAGCCTCAAGGGTGA c.(193-222)agfs p.NQLLSSLKGE65fs ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Del_p.NQLLSSLKGE65fs NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 65 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GGGGGCTGGCTCACCCTTGAGGCTGCTGAGGAGCTGGTTCTGGTGGAA 0.689 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 43 --- --- --- --- RP11-67H24.2 0 broad.mit.edu 37 16 32833097 32833097 + RNA DEL A A - TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr16:32833097delA ENST00000569859.1 + 0 373 ttagaaatggaaagactaggc 0.353 3 5 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579324 7579325 + Frame_Shift_Del DEL AG AG - TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr17:7579324_7579325delAG ENST00000420246.2 - 4 494_495 c.362_363delCT c.(361-363)tfs p.S121fs TP53_ENST00000413465.2_Frame_Shift_Del_p.S121fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S121fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.S121fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.S121fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S121fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 121 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. S -> F (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.G59fs*23(3)|p.S121fs*27(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.H115fs*27(1)|p.Y107fs*44(1)|p.S121fs*2(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.S121F(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGCAAGTCACAGACTTGGCTGT 0.559 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 69 9 --- --- --- --- RP11-260A9.6 0 broad.mit.edu 37 17 25318216 25318216 + RNA DEL T T - rs111803514 TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr17:25318216delT ENST00000580686.1 - 0 189 TGCTGGCCTCTGGCAGGCTGG 0.612 3 6 --- --- --- --- RP11-676J15.1 0 broad.mit.edu 37 18 70539941 70539941 + RNA DEL T T - TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr18:70539941delT ENST00000578967.1 + 0 101 AAAATGTTACTTCAGTGTGCT 0.368 2 4 --- --- --- --- ARHGAP35 2909 broad.mit.edu 37 19 47423882 47423882 + Frame_Shift_Del DEL T T - TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr19:47423882delT ENST00000404338.3 + 1 1950 c.1950delT c.(1948-1950)tcfs p.S650fs NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 650 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity CTGTGAACTCTTTCCAGACGC 0.438 49 59 --- --- --- --- KDELR1 10945 broad.mit.edu 37 19 48894581 48894582 + Frame_Shift_Ins INS - - G TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr19:48894581_48894582insG ENST00000330720.2 - 1 228_229 c.34_35insC c.(34-36)cctfs p.P12fs NM_006801.2 NP_006792.1 P24390 ERD21_HUMAN KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 12 intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction KDEL sequence binding|protein binding|receptor activity NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1) 11 all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203) all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145) GGCGAGGAGGTGGGAGAGGTCT 0.663 OREG0025606 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 3 --- --- --- --- ZNF831 128611 broad.mit.edu 37 20 57769139 57769140 + Frame_Shift_Ins INS - - G rs55786258 by1000genomes TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr20:57769139_57769140insG ENST00000371030.2 + 1 3065_3066 c.3065_3066insG c.(3064-3066)tggfs p.W1022fs NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1022 intracellular nucleic acid binding|zinc ion binding p.D1025fs*9(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GGGGCACAGTTGGGGGGGGACA 0.678 11 25 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11056763 11056763 + RNA DEL T T - rs2838178 TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr21:11056763delT ENST00000470054.1 - 0 487 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CATTGAGTAATAAAATGTTCC 0.299 4 3 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11057307 11057308 + RNA INS - - A rs76234576 TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr21:11057307_11057308insA ENST00000470054.1 - 0 487 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAGAAGATAGGAAAAAAAGCTT 0.342 4 3 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11087765 11087765 + RNA DEL A A - rs150587031 TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr21:11087765delA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTAAGACTGTATTTTTTATGG 0.373 4 6 --- --- --- --- P2RX6P 0 broad.mit.edu 37 22 21398410 21398410 + RNA DEL C C - TCGA-N8-A4PM-01A-11D-A28R-08 TCGA-N8-A4PM-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx f45fce6a-f718-486c-8e24-57f062f20b37 1e5842cc-eef6-4cf3-b869-b7dacdba7d92 g.chr22:21398410delC ENST00000439119.1 - 0 202 NR_002829.1 AGGACTTGCGCCCCCGTCAGC 0.592 2 4 --- --- --- ---