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 ATAD5 79915 broad.mit.edu 37 17 29161517 29161517 + Missense_Mutation SNP G G A rs147909444 byFrequency TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr17:29161517G>A ENST00000321990.4 + 2 796 c.418G>A c.(418-420)Gat>Aat p.D140N CTD-2349P21.11_ENST00000580873.1_RNA NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 140 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) TAGTAGCGACGATAGCAAAGA 0.289000 81 265 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32819082 32819082 + Missense_Mutation SNP G G C TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr2:32819082G>C ENST00000421745.2 + 67 13590 c.13456G>C c.(13456-13458)Gag>Cag p.E4486Q NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4486 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) AAAGACTGCTGAGATAGTTTA 0.383000 20 33 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20522887 20522887 + Silent SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr12:20522887C>T ENST00000359062.3 + 1 709 c.669C>T c.(667-669)acC>acT p.T223T RP11-284H19.1_ENST00000535755.1_RNA NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 223 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CGGTCAGGACCGTGTCCCTCA 0.647000 4 64 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 48951075 48951075 + Missense_Mutation SNP G G C TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr13:48951075G>C ENST00000267163.4 + 13 1375 c.1237G>C c.(1237-1239)Gaa>Caa p.E413Q NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 413 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(9)|p.N406fs*4(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GAATCCAAAAGAAAGTATACT 0.348000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 92 19 0 0 1 0 0 ERV3-1 2086 broad.mit.edu 37 7 64452668 64452668 + Missense_Mutation SNP C C T rs111670078 TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr7:64452668C>T ENST00000394323.2 - 2 1237 c.737G>A c.(736-738)cGc>cAc p.R246H NM_001007253.3 NP_001007254.2 Q14264 ENR1_HUMAN 246 virion breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8) 16 ttgggttgagcgggtccgagt 0.473000 5 126 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13603304 13603304 + Silent SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr4:13603304C>T ENST00000040738.5 - 10 5355 c.5220G>A c.(5218-5220)gtG>gtA p.V1740V NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1740 V -> M (in Ref. 4; BAB15299). DNA binding CTGAGCAGATCACAAAGTTAT 0.512000 99 83 0 0 1 0 0 IK 3550 broad.mit.edu 37 5 140033597 140033597 + Missense_Mutation SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr5:140033597C>T ENST00000417647.2 + 6 618 c.479C>T c.(478-480)aCc>aTc p.T160I NM_006083.3 NP_006074.2 Q13123 RED_HUMAN IK cytokine, down-regulator of HLA II 160 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGGAACACACCCATTTGGTG 0.473000 15 1 0 0 1 0 0 SASS6 163786 broad.mit.edu 37 1 100591463 100591463 + Nonsense_Mutation SNP G G C TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr1:100591463G>C ENST00000287482.5 - 2 241 c.101C>G c.(100-102)tCa>tGa p.S34* SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_De_novo_Start_OutOfFrame NM_194292.1 NP_919268.1 Q6UVJ0 SAS6_HUMAN spindle assembly 6 homolog (C. elegans) 34 centriole replication centriole breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 19 all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197) ATTAGAAACTGATTGTAGTTC 0.328000 4 207 0 0 1 0 0 TAF4B 6875 broad.mit.edu 37 18 23866325 23866325 + Silent SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr18:23866325G>A ENST00000269142.5 + 7 2450 c.1452G>A c.(1450-1452)gtG>gtA p.V484V TAF4B_ENST00000400466.2_Silent_p.V484V|TAF4B_ENST00000578121.1_Silent_p.V484V NM_005640.1 NP_005631.1 Q92750 TAF4B_HUMAN TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa 484 transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleolus|transcription factor TFIID complex DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1) 29 all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124) Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267) TTCCATCTGTGAAACCTGTTG 0.478000 122 16 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215807816 215807816 + Silent SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr1:215807816C>T ENST00000366943.2 - 70 15668 c.15282G>A c.(15280-15282)ccG>ccA p.P5094P USH2A_ENST00000307340.3_Silent_p.P5094P O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 5094 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGTTTTCCCCCGGTGGGTAAA 0.418000 HNSCC(13;0.011) 22 104 0 0 1 0 0 TRAPPC12 51112 broad.mit.edu 37 2 3425704 3425704 + Missense_Mutation SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr2:3425704C>T ENST00000324266.5 + 4 1412 c.1217C>T c.(1216-1218)gCc>gTc p.A406V TRAPPC12_ENST00000382110.2_Missense_Mutation_p.A406V NM_016030.5 NP_057114.5 Q8WVT3 TTC15_HUMAN trafficking protein particle complex 12 406 binding CTCCTCACAGCCCACGGCCAG 0.582000 8 12 0 0 1 0 0 FAM186B 84070 broad.mit.edu 37 12 49994064 49994064 + Silent SNP G G C TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr12:49994064G>C ENST00000544141.1 - 4 1688 c.1089C>G c.(1087-1089)ctC>ctG p.L363L PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000257894.2_Silent_p.L453L Q8IYM0 F186B_HUMAN family with sequence similarity 186, member B 453 protein complex breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ACTTAATTTGGAGTCCTCCCT 0.532000 91 7 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43916127 43916127 + Silent SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr1:43916127C>T ENST00000562955.1 + 71 10104 c.10104C>T c.(10102-10104)ttC>ttT p.F3368F SZT2_ENST00000372442.1_Silent_p.F2526F NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 3425 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CAGCCTGTTTCACCCTCTGGA 0.597000 6 107 0 0 1 0 0 ECM2 1842 broad.mit.edu 37 9 95272313 95272313 + Silent SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr9:95272313G>A ENST00000344604.5 - 6 1323 c.1174C>T c.(1174-1176)Ctg>Ttg p.L392L ECM2_ENST00000444490.2_Silent_p.L370L|CENPP_ENST00000375587.3_Intron NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 392 cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 AACTTCTTCAGAAGCTTAAAA 0.328000 32 18 0 0 1 0 0 PRPF40A 55660 broad.mit.edu 37 2 153537848 153537848 + Silent SNP T T C TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr2:153537848T>C ENST00000410080.1 - 6 889 c.348A>G c.(346-348)aaA>aaG p.K116K NM_017892.3 NP_060362.3 O75400 PR40A_HUMAN PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) 143 mRNA processing|RNA splicing nuclear matrix|nuclear speck protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1) 21 TCCACATTGATTTCTAAAGAA 0.313000 41 97 0 0 1 0 0 RASAL1 8437 broad.mit.edu 37 12 113568738 113568738 + Missense_Mutation SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr12:113568738C>T ENST00000546530.1 - 3 359 c.74G>A c.(73-75)aGc>aAc p.S25N RASAL1_ENST00000261729.5_Missense_Mutation_p.S25N|RASAL1_ENST00000548055.1_Missense_Mutation_p.S25N|RASAL1_ENST00000446861.3_Missense_Mutation_p.S25N|RASAL1_ENST00000418411.2_5'UTR NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 25 C2 1. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 GGGGTCGCTGCTCCCAGACCT 0.627000 26 6 0 0 1 0 0 OTOP1 133060 broad.mit.edu 37 4 4190638 4190638 + Silent SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr4:4190638G>A ENST00000296358.4 - 6 1755 c.1731C>T c.(1729-1731)gtC>gtT p.V577V NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 577 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CAAAGCCAAAGACAATCTCCT 0.483000 7 102 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 4 111 0 0 1 0 0 GSG2 83903 broad.mit.edu 37 17 3628727 3628727 + Missense_Mutation SNP C C G TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr17:3628727C>G ENST00000325418.4 + 1 1517 c.1498C>G c.(1498-1500)Caa>Gaa p.Q500E ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron NM_031965.2 NP_114171.2 Q8TF76 HASP_HUMAN germ cell associated 2 (haspin) 500 Protein kinase. cell cycle|chromatin modification|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity CGAAGTGTTTCAAACAATTGC 0.453000 64 12 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69380958 69380958 + Missense_Mutation SNP C C A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr8:69380958C>A ENST00000337103.4 + 3 1898 c.306C>A c.(304-306)aaC>aaA p.N102K C8orf34_ENST00000539993.1_Missense_Mutation_p.N127K|C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000518698.1_Missense_Mutation_p.N213K|C8orf34_ENST00000348340.2_Missense_Mutation_p.N127K Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 127 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) CAAAGTGGAACTGGAGGACTA 0.398000 30 81 2.61193e-14 2.84785e-14 1 1 0 BLVRA 644 broad.mit.edu 37 7 43846743 43846743 + Missense_Mutation SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr7:43846743C>T ENST00000402924.1 + 9 963 c.800C>T c.(799-801)tCt>tTt p.S267F BLVRA_ENST00000265523.4_Missense_Mutation_p.S267F NM_001253823.1 NP_001240752.1 P53004 BIEA_HUMAN biliverdin reductase A 267 heme catabolic process cytosol biliverdin reductase activity|zinc ion binding endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2) 12 NADH(DB00157) GGCCAGTTCTCTGAGAAGGAA 0.433000 40 74 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48453412 48453412 + Missense_Mutation SNP C C G TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr3:48453412C>G ENST00000358536.4 - 28 5376 c.5107G>C c.(5107-5109)Gta>Cta p.V1703L PLXNB1_ENST00000448774.2_Missense_Mutation_p.V314L|PLXNB1_ENST00000358459.4_Missense_Mutation_p.V1520L|PLXNB1_ENST00000456774.1_Missense_Mutation_p.V1520L|PLXNB1_ENST00000296440.6_Missense_Mutation_p.V1703L NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1703 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GGCTCCCCTACGGAGTCCTAG 0.567000 28 147 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098863 11098863 + RNA SNP A A G rs75318310 by1000genomes TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr21:11098863A>G ENST00000470054.1 - 0 62 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) ccagcctccaactcccccttc 0.627000 4 35 0 0 1 0 0 NISCH 11188 broad.mit.edu 37 3 52522315 52522315 + Missense_Mutation SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr3:52522315G>A ENST00000345716.4 + 16 2941 c.2807G>A c.(2806-2808)cGc>cAc p.R936H NISCH_ENST00000479054.1_Missense_Mutation_p.R936H NM_007184.3 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 936 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) CACAACTGTCGCAACCGCAAC 0.647000 4 120 0 0 1 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142586868 142586868 + Silent SNP C C G TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr5:142586868C>G ENST00000378004.3 + 21 2449 c.2094C>G c.(2092-2094)ccC>ccG p.P698P ARHGAP26_ENST00000274498.4_Silent_p.P698P|ARHGAP26_ENST00000486650.1_Intron NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 701 Ser-rich. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACTCATCCCCCGTCAGGTCTG 0.567000 21 87 0 0 1 0 0 KRT86 3892 broad.mit.edu 37 12 52695817 52695817 + Silent SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr12:52695817C>T ENST00000293525.5 + 1 169 c.117C>T c.(115-117)cgC>cgT p.R39R KRT86_ENST00000544024.1_Silent_p.R39R|KRT86_ENST00000423955.2_Silent_p.R39R NM_002284.3 NP_002275.1 O43790 KRT86_HUMAN keratin 86 39 Head. cytoskeleton organization keratin filament structural molecule activity breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(357;0.189) CCTGCTACCGCGGCCTCACCG 0.751000 3 50 0 0 1 0 0 IPO13 9670 broad.mit.edu 37 1 44424179 44424179 + Missense_Mutation SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr1:44424179C>T ENST00000372343.3 + 10 2458 c.1796C>T c.(1795-1797)tCa>tTa p.S599L NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 599 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) TTCCTGCTGTCAGCTCTTCAA 0.547000 4 91 0 0 1 0 0 MYADM 91663 broad.mit.edu 37 19 54377239 54377239 + Silent SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr19:54377239C>T ENST00000391769.2 + 3 736 c.456C>T c.(454-456)gcC>gcT p.A152A MYADM_ENST00000391768.2_Silent_p.A152A|MYADM_ENST00000391771.1_Silent_p.A152A|MYADM_ENST00000391770.4_Silent_p.A152A|MYADM_ENST00000336967.3_Silent_p.A152A NM_001020821.1 NP_001018657.1 Q96S97 MYADM_HUMAN myeloid-associated differentiation marker 152 MARVEL 1. integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.0488) TGGCTTACGCCACCGAAGTGG 0.657000 12 56 0 0 1 0 0 POGK 57645 broad.mit.edu 37 1 166819632 166819632 + Missense_Mutation SNP G G T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr1:166819632G>T ENST00000367875.1 + 5 2176 c.1816G>T c.(1816-1818)Gct>Tct p.A606S POGK_ENST00000367876.4_Missense_Mutation_p.A606S|POGK_ENST00000536514.1_Missense_Mutation_p.A521S|POGK_ENST00000537173.1_Missense_Mutation_p.A488S Q9P215 POGK_HUMAN pogo transposable element with KRAB domain 606 multicellular organismal development|regulation of transcription, DNA-dependent nucleus DNA binding endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 22 CGAAAGCATGGCTGAGAGCAA 0.493000 6 87 0.0293803 0.0295552 1 1 0 RANBP2 5903 broad.mit.edu 37 2 109383113 109383113 + Missense_Mutation SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr2:109383113G>A ENST00000283195.6 + 20 6244 c.6118G>A c.(6118-6120)Gta>Ata p.V2040I NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 2040 RanBD1 2. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TTCACAGCGGGTAAAACTATT 0.388000 6 751 0 0 1 0 0 C19orf54 284325 broad.mit.edu 37 19 41250554 41250554 + Missense_Mutation SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr19:41250554G>A ENST00000378313.2 - 3 546 c.427C>T c.(427-429)Ctc>Ttc p.L143F C19orf54_ENST00000598729.1_Missense_Mutation_p.S12F|C19orf54_ENST00000598485.2_Missense_Mutation_p.S12F|C19orf54_ENST00000339153.3_Missense_Mutation_p.S12F|C19orf54_ENST00000470681.1_Missense_Mutation_p.L5F NM_198476.3 NP_940878.3 Q5BKX5 CS054_HUMAN chromosome 19 open reading frame 54 143 breast(1)|lung(1)|urinary_tract(2) 4 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) GGCGACAGGAGAGTACCTGCC 0.627000 16 15 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182395316 182395316 + Silent SNP T T C TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr2:182395316T>C ENST00000397033.2 + 24 3034 c.2604T>C c.(2602-2604)agT>agC p.S868S NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 868 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) AGCAAAAGAGTGCAATGCAGA 0.393000 69 55 0 0 1 0 0 IMPG2 50939 broad.mit.edu 37 3 100963554 100963554 + Missense_Mutation SNP G G T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr3:100963554G>T ENST00000193391.7 - 13 1808 c.1621C>A c.(1621-1623)Cca>Aca p.P541T NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 541 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 GTTTCTTTTGGCACAGGTTGA 0.373000 19 81 2.4624e-09 2.63383e-09 1 1 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 3 14 0.184627 0.184627 1 1 0 VPS54 51542 broad.mit.edu 37 2 64189563 64189563 + Silent SNP C C A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr2:64189563C>A ENST00000409558.4 - 7 757 c.603G>T c.(601-603)ctG>ctT p.L201L VPS54_ENST00000354504.3_Silent_p.L96L|VPS54_ENST00000272322.4_Silent_p.L213L NM_001005739.1|NM_016516.2 NP_001005739.1|NP_057600.2 Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 homolog (S. cerevisiae) protein transport|retrograde transport, endosome to Golgi endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 CCACAATATCCAGATAATGGC 0.363000 40 84 7.53189e-24 8.54289e-24 1 1 0 MRPS22 56945 broad.mit.edu 37 3 139074601 139074601 + Missense_Mutation SNP A A C TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr3:139074601A>C ENST00000495075.1 + 9 1388 c.956A>C c.(955-957)gAt>gCt p.D319A MRPS22_ENST00000310776.4_Missense_Mutation_p.D319A|MRPS22_ENST00000465056.1_Missense_Mutation_p.D318A|MRPS22_ENST00000478464.1_Missense_Mutation_p.D278A P82650 RT22_HUMAN mitochondrial ribosomal protein S22 319 mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 GGGGCCAAGGATCAGGCTGCT 0.428000 7 76 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10084255 10084255 + Missense_Mutation SNP G G C TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr3:10084255G>C ENST00000287647.3 + 11 889 c.796G>C c.(796-798)Gtg>Ctg p.V266L FANCD2_ENST00000419585.1_Missense_Mutation_p.V266L|FANCD2_ENST00000383806.1_Missense_Mutation_p.V266L|FANCD2_ENST00000383807.1_Missense_Mutation_p.V266L NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 266 Interaction with BRCA2.|Interaction with FANCE. DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TCGCCAGTTGGTGATGGATAA 0.343000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 16 173 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34073007 34073007 + Silent SNP G G T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr17:34073007G>T ENST00000254466.6 - 6 1536 c.1509C>A c.(1507-1509)atC>atA p.I503I GAS2L2_ENST00000587565.1_Silent_p.I487I NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 503 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GCCGGATGGGGATCTTGGTTA 0.612000 13 59 4.36969e-10 4.73383e-10 1 1 0 TENM3 55714 broad.mit.edu 37 4 183601476 183601476 + Missense_Mutation SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr4:183601476G>A ENST00000511685.1 + 9 1736 c.1613G>A c.(1612-1614)gGa>gAa p.G538E TENM3_ENST00000406950.2_Missense_Mutation_p.G538E teneurin transmembrane protein 3 p.G538E(1) TGTTTTCCAGGATTTCTGGGT 0.413000 4 38 0 0 1 0 0 RNF145 153830 broad.mit.edu 37 5 158588322 158588322 + Silent SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr5:158588322C>T ENST00000424310.2 - 10 1937 c.1578G>A c.(1576-1578)acG>acA p.T526T RNF145_ENST00000274542.2_Silent_p.T554T|RNF145_ENST00000518802.1_Silent_p.T556T|RNF145_ENST00000521606.2_Silent_p.T543T|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000520638.1_Silent_p.T540T|RNF145_ENST00000519865.1_Silent_p.T526T NM_001199383.1 NP_001186312.1 Q96MT1 RN145_HUMAN ring finger protein 145 526 integral to membrane zinc ion binding endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCTGCTCTTTCGTAGCAATGG 0.438000 69 9 0 0 1 0 0 EGR2 1959 broad.mit.edu 37 10 64573172 64573172 + Missense_Mutation SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr10:64573172C>T ENST00000242480.3 - 2 1551 c.1226G>A c.(1225-1227)cGg>cAg p.R409Q EGR2_ENST00000439032.1_Missense_Mutation_p.R409Q|EGR2_ENST00000411732.1_Missense_Mutation_p.R359Q NM_000399.3|NM_001136177.1 NP_000390.2|NP_001129649.1 P11161 EGR2_HUMAN early growth response 2 409 R -> W (in CMT1D). fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 36 Prostate(12;0.0297)|all_hematologic(501;0.228) CTCATCACTCCGGGCAAACTT 0.602000 20 51 0 0 1 0 0 VPS54 51542 broad.mit.edu 37 2 64189497 64189497 + Missense_Mutation SNP C C A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr2:64189497C>A ENST00000409558.4 - 7 823 c.669G>T c.(667-669)atG>atT p.M223I VPS54_ENST00000354504.3_Missense_Mutation_p.M118I|VPS54_ENST00000272322.4_Missense_Mutation_p.M235I NM_001005739.1|NM_016516.2 NP_001005739.1|NP_057600.2 Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 homolog (S. cerevisiae) protein transport|retrograde transport, endosome to Golgi endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 GTTGAGAGGTCATTGCATGAA 0.388000 75 118 8.70598e-44 1.00775e-43 1 1 0 SLC37A3 84255 broad.mit.edu 37 7 140035200 140035200 + Missense_Mutation SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr7:140035200C>T ENST00000340308.3 - 12 1306 c.1195G>A c.(1195-1197)Gag>Aag p.E399K SLC37A3_ENST00000447932.2_3'UTR|SLC37A3_ENST00000326232.9_3'UTR NM_032295.2 NP_115671.1 Q8NCC5 SPX3_HUMAN solute carrier family 37, member 3 0 carbohydrate transport|transmembrane transport integral to membrane endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3) 24 Melanoma(164;0.0142) CTTTCTGTCTCGCGGGCACCG 0.493000 47 90 0 0 1 0 0 OR52B4 143496 broad.mit.edu 37 11 4388724 4388724 + Missense_Mutation SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr11:4388724G>A ENST00000408920.2 - 1 892 c.802C>T c.(802-804)Cgc>Tgc p.R268C NM_001005161.3 NP_001005161.2 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, member 4 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) GGAATGTGGCGTCCAAACCTC 0.463000 22 86 0 0 1 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820557 35820557 + Missense_Mutation SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chrX:35820557G>A ENST00000399989.1 + 2 523 c.244G>A c.(244-246)Gaa>Aaa p.E82K MAGEB16_ENST00000399988.1_Missense_Mutation_p.E82K|MAGEB16_ENST00000399985.1_Missense_Mutation_p.E82K|MAGEB16_ENST00000399987.1_Missense_Mutation_p.E82K|MAGEB16_ENST00000399992.1_Missense_Mutation_p.E114K NM_001099921.1 NP_001093391.1 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 82 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 CTCATCAAGTGAATCTGATGA 0.512000 25 3 0 0 1 0 0 EFTUD1 79631 broad.mit.edu 37 15 82519878 82519878 + Missense_Mutation SNP T T C TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr15:82519878T>C ENST00000268206.7 - 11 1273 c.1105A>G c.(1105-1107)Att>Gtt p.I369V EFTUD1_ENST00000359445.3_Missense_Mutation_p.I318V|EFTUD1_ENST00000561331.1_5'UTR NM_024580.5 NP_078856.4 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain containing 1 369 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 TCAGCTGTAATATCAAGGGGA 0.458000 53 43 0 0 1 0 0 ATP2A2 488 broad.mit.edu 37 12 110778544 110778544 + Silent SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr12:110778544G>A ENST00000395494.2 + 13 2324 c.1761G>A c.(1759-1761)cgG>cgA p.R587R ATP2A2_ENST00000539276.2_Silent_p.R614R|ATP2A2_ENST00000308664.6_Silent_p.R614R P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 614 Interacts with HAX1. ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 AGCTGTGCCGGCAAGCAGGCA 0.577000 4 79 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152279993 152279993 + Missense_Mutation SNP C C G TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr1:152279993C>G ENST00000368799.1 - 3 7404 c.7369G>C c.(7369-7371)Gag>Cag p.E2457Q FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2457 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTGACCCTCTTGGGACGTT 0.592000 Ichthyosis 14 983 0 0 1 0 0 GPR75 10936 broad.mit.edu 37 2 54080967 54080967 + Silent SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr2:54080967G>A ENST00000394705.2 - 2 1197 c.927C>T c.(925-927)atC>atT p.I309I ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron NM_006794.3 NP_006785.1 O95800 GPR75_HUMAN G protein-coupled receptor 75 309 integral to plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TGGAGAGGTTGATGGCTGATA 0.532000 15 42 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56244843 56244843 + Silent SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr19:56244843G>A ENST00000332836.2 - 2 381 c.354C>T c.(352-354)caC>caT p.H118H NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 118 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) GCTCAGGGACGTGAAGACAGG 0.398000 7 197 0 0 1 0 0 SFMBT2 57713 broad.mit.edu 37 10 7409681 7409681 + Silent SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr10:7409681G>A ENST00000361972.4 - 4 456 c.366C>T c.(364-366)gaC>gaT p.D122D SFMBT2_ENST00000379713.3_Silent_p.D122D|SFMBT2_ENST00000379711.2_Silent_p.D122D|SFMBT2_ENST00000397167.1_Silent_p.D122D|SFMBT2_ENST00000397160.3_Silent_p.D122D NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 122 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 CGATGACTACGTCACACCAGA 0.597000 6 169 0 0 1 0 0 ABCG8 64241 broad.mit.edu 37 2 44100928 44100928 + Missense_Mutation SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr2:44100928G>A ENST00000272286.2 + 9 1304 c.1214G>A c.(1213-1215)cGt>cAt p.R405H NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 405 R -> H (in STSL). cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TTTTTAAGTCGTCAGATTTCC 0.512000 6 240 0 0 1 0 0 PSD3 23362 broad.mit.edu 37 8 18541300 18541300 + Missense_Mutation SNP G G C TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr8:18541300G>C ENST00000428502.2 - 1 309 c.143C>G c.(142-144)tCt>tGt p.S48C PSD3_ENST00000523619.1_Intron|PSD3_ENST00000286485.8_Intron|PSD3_ENST00000440756.2_Intron|PSD3_ENST00000327040.8_Intron Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 720 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) CTCCTTAGCAGAAAACTCTGA 0.468000 103 18 0 0 1 0 0 ZNF816 125893 broad.mit.edu 37 19 53454715 53454715 + Missense_Mutation SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr19:53454715C>T ENST00000357666.4 - 5 613 c.313G>A c.(313-315)Gaa>Aaa p.E105K ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.E105K|ZNF816_ENST00000391786.2_3'UTR|ZNF321P_ENST00000391777.3_Intron NM_001031665.2 NP_001026835.1 Q0VGE8 ZN816_HUMAN zinc finger protein 816 105 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 TTCTTCATTTCTGGGAAGCAA 0.403000 6 262 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175324729 175324729 + Silent SNP G G T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr1:175324729G>T ENST00000367674.2 - 17 3867 c.3159C>A c.(3157-3159)acC>acA p.T1053T TNR_ENST00000263525.2_Silent_p.T1053T Q92752 TENR_HUMAN tenascin R Fibronectin type-III 9. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CACTTTGTCTGGTGACTTCAC 0.547000 10 115 3.86212e-05 4.00428e-05 1 1 0 PPARG 5468 broad.mit.edu 37 3 12434135 12434135 + Missense_Mutation SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr3:12434135G>A ENST00000397026.2 + 6 820 c.437G>A c.(436-438)aGa>aAa p.R146K PPARG_ENST00000309576.6_Missense_Mutation_p.R140K|PPARG_ENST00000539812.1_Missense_Mutation_p.R138K|PPARG_ENST00000397015.2_Missense_Mutation_p.R140K|PPARG_ENST00000397012.2_Missense_Mutation_p.R140K|PPARG_ENST00000397000.1_Missense_Mutation_p.R140K|PPARG_ENST00000397010.2_Missense_Mutation_p.R140K|PPARG_ENST00000287820.6_Missense_Mutation_p.R168K P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 168 activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) AGAACAATCAGATTGAAGCTT 0.383000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 76 88 0 0 1 0 0 NUP98 4928 broad.mit.edu 37 11 3789862 3789862 + Silent SNP G G T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr11:3789862G>T ENST00000324932.7 - 8 1317 c.897C>A c.(895-897)ggC>ggA p.G299G NUP98_ENST00000359171.4_Silent_p.G299G|NUP98_ENST00000397007.4_Silent_p.G299G|NUP98_ENST00000355260.3_Silent_p.G299G|NUP98_ENST00000397004.4_Silent_p.G299G NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 299 Gly/Thr-rich. carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CAAAGGAAAAGCCAGTGTTCT 0.463000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 4 130 0.014758 0.0149347 1 1 0 C2orf44 80304 broad.mit.edu 37 2 24260579 24260579 + Missense_Mutation SNP G G C TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr2:24260579G>C ENST00000295148.4 - 2 1843 c.1786C>G c.(1786-1788)Caa>Gaa p.Q596E C2orf44_ENST00000406895.3_Missense_Mutation_p.Q596E NM_025203.2 NP_079479.1 Q9H6R7 CB044_HUMAN chromosome 2 open reading frame 44 596 protein binding p.Q596E(1) C2orf44/ALK(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGAAGATCTTGAGAGAGTGGA 0.403000 T ALK NSCLC 4 256 0 0 1 0 0 ZNF467 168544 broad.mit.edu 37 7 149462144 149462144 + Missense_Mutation SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr7:149462144C>T ENST00000302017.3 - 5 1860 c.1447G>A c.(1447-1449)Ggc>Agc p.G483S ZNF467_ENST00000484747.1_Intron NM_207336.1 NP_997219.1 Q7Z7K2 ZN467_HUMAN zinc finger protein 467 483 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1) 13 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGCCTGGCGCCGCTGTGGGCC 0.746000 5 11 0 0 1 0 0 OR52E4 390081 broad.mit.edu 37 11 5905973 5905973 + Missense_Mutation SNP G G T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr11:5905973G>T ENST00000316987.2 + 1 473 c.451G>T c.(451-453)Gtt>Ttt p.V151F NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTCTGTGGTTGTTGGAAGAAA 0.458000 51 91 3.39706e-21 3.82735e-21 1 1 0 QSER1 79832 broad.mit.edu 37 11 32949665 32949665 + Silent SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr11:32949665G>A ENST00000399302.2 + 3 428 c.93G>A c.(91-93)caG>caA p.Q31Q QSER1_ENST00000527788.1_Silent_p.Q31Q|QSER1_ENST00000527250.1_Intron NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 31 breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) CATCCTGGCAGACAGGTGATT 0.418000 30 55 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183713981 183713981 + Missense_Mutation SNP A A C TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr4:183713981A>C ENST00000511685.1 + 26 6279 c.6156A>C c.(6154-6156)aaA>aaC p.K2052N TENM3_ENST00000406950.2_Missense_Mutation_p.K2052N teneurin transmembrane protein 3 TTTCTGGCAAAGTTGAGCAGT 0.403000 9 117 0 0 1 0 0 IL16 3603 broad.mit.edu 37 15 81592438 81592438 + Missense_Mutation SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr15:81592438C>T ENST00000394660.2 + 14 3131 c.2771C>T c.(2770-2772)cCc>cTc p.P924L IL16_ENST00000302987.4_Missense_Mutation_p.P924L|IL16_ENST00000394652.2_Missense_Mutation_p.P223L NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 924 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 GAGTCCCCTCCCCCAGGGCGG 0.652000 19 55 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114294584 114294584 + Silent SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr4:114294584G>A ENST00000357077.4 + 45 11891 c.11838G>A c.(11836-11838)aaG>aaA p.K3946K ANK2_ENST00000394537.3_Silent_p.K1861K|ANK2_ENST00000510275.2_Silent_p.K544K|ANK2_ENST00000506722.1_Silent_p.K1852K|ANK2_ENST00000509550.1_Silent_p.K1037K|ANK2_ENST00000264366.6_Silent_p.K3913K NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3913 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TTGTATTGAAGAGTGACACCG 0.433000 49 76 0 0 1 0 0 ZNF530 348327 broad.mit.edu 37 19 58117641 58117641 + Missense_Mutation SNP C C G TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr19:58117641C>G ENST00000332854.6 + 3 968 c.748C>G c.(748-750)Caa>Gaa p.Q250E ZNF530_ENST00000597864.1_Intron NM_020880.3 NP_065931.3 Q6P9A1 ZN530_HUMAN zinc finger protein 530 250 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) ATCCTTTAGTCAAAGTTCTGG 0.413000 5 77 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3786659 3786659 + Missense_Mutation SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr16:3786659C>T ENST00000262367.5 - 27 5361 c.4552G>A c.(4552-4554)Gac>Aac p.D1518N CREBBP_ENST00000382070.3_Missense_Mutation_p.D1480N NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1518 Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) ACCTTGTAGTCATGGATGATC 0.478000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 5 115 0 0 1 0 0 CYP1A1 1543 broad.mit.edu 37 15 75014650 75014650 + Silent SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr15:75014650C>T ENST00000379727.3 - 2 987 c.789G>A c.(787-789)caG>caA p.Q263Q CYP1A1_ENST00000395048.2_Silent_p.Q263Q|CYP1A1_ENST00000395049.4_Silent_p.Q263Q|CYP1A1_ENST00000567032.1_Silent_p.Q263Q|CYP1A1_ENST00000564596.1_Silent_p.Q2Q P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 1 263 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) TGACCATCTTCTGCATGAAGC 0.517000 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 11 30 0 0 1 0 0 KRT84 3890 broad.mit.edu 37 12 52775183 52775183 + Missense_Mutation SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr12:52775183G>A ENST00000257951.3 - 5 1105 c.1039C>T c.(1039-1041)Cgc>Tgc p.R347C RP3-416H24.4_ENST00000547174.1_RNA NM_033045.3 NP_149034.2 Q9NSB2 KRT84_HUMAN keratin 84 347 Coil 2.|Rod. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) GCCCGGCTGCGCCTGGCCACC 0.567000 7 225 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92731987 92731987 + Missense_Mutation SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr7:92731987C>T ENST00000379958.2 - 3 3693 c.3424G>A c.(3424-3426)Ggg>Agg p.G1142R NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1142 cytoplasm p.G1142W(1)|p.G1142R(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GAAATGTTCCCGTTTCCTCCG 0.368000 7 270 0 0 1 0 0 TUBB 203068 broad.mit.edu 37 6 30691628 30691628 + Silent SNP C C G TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr6:30691628C>G ENST00000396389.1 + 4 1328 c.735C>G c.(733-735)ctC>ctG p.L245L TUBB_ENST00000396384.1_Silent_p.L191L|XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000435534.1_Intron|TUBB_ENST00000330914.3_Silent_p.L191L|TUBB_ENST00000327892.8_Silent_p.L263L P07437 TBB5_HUMAN tubulin, beta class I 263 cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization cytosol|microtubule GTP binding|GTPase activity|MHC class I protein binding breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1) 16 Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361) TCCCACGTCTCCATTTCTTTA 0.587000 5 104 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36223446 36223446 + Missense_Mutation SNP G G T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr19:36223446G>T ENST00000420124.1 + 28 5996 c.5996G>T c.(5995-5997)gGg>gTg p.G1999V KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000222270.7_Missense_Mutation_p.G1999V lysine (K)-specific methyltransferase 2B AGCCTGCTGGGGACTGAGCCC 0.672000 5 91 0.014758 0.0149347 1 1 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 4 23 0 0 1 0 0 NEK4 6787 broad.mit.edu 37 3 52797518 52797518 + Silent SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr3:52797518C>T ENST00000233027.5 - 5 991 c.789G>A c.(787-789)cgG>cgA p.R263R NEK4_ENST00000535191.1_Silent_p.R174R|NEK4_ENST00000383721.4_Silent_p.R263R NM_001193533.1|NM_003157.4 NP_001180462.1|NP_003148.2 P51957 NEK4_HUMAN NIMA-related kinase 4 263 cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10) 26 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) AGGAGATTTGCCGCTTTATAT 0.468000 5 471 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49194959 49194959 + Missense_Mutation SNP G G T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr11:49194959G>T ENST00000340334.7 - 11 1498 c.1130C>A c.(1129-1131)gCa>gAa p.A377E FOLH1_ENST00000343844.4_Missense_Mutation_p.A84E|FOLH1_ENST00000356696.3_Missense_Mutation_p.A392E|FOLH1_ENST00000533034.1_Missense_Mutation_p.A377E|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000256999.2_Missense_Mutation_p.A392E NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 392 NAALADase. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) AACAACAGCTGCTCCACTCTG 0.413000 4 173 3.59834e-05 3.75382e-05 1 1 0 TCTN2 79867 broad.mit.edu 37 12 124156667 124156667 + Silent SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr12:124156667G>A ENST00000303372.5 + 3 383 c.255G>A c.(253-255)gtG>gtA p.V85V TCTN2_ENST00000426174.2_Silent_p.V85V NM_001143850.2|NM_024809.4 NP_001137322.1|NP_079085.2 Q96GX1 TECT2_HUMAN tectonic family member 2 85 cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) GCGTGACTGTGATCCCCGGTG 0.507000 29 136 0 0 1 0 0 EXT1 2131 broad.mit.edu 37 8 118831994 118831994 + Missense_Mutation SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr8:118831994G>A ENST00000378204.2 - 6 2263 c.1457C>T c.(1456-1458)gCg>gTg p.A486V NM_000127.2 NP_000118.2 Q16394 EXT1_HUMAN exostosin glycosyltransferase 1 486 A -> V (in EXT1; no loss of activity). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2) 38 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) GGGGGTCACCGCATGGATGAC 0.517000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Langer-Giedion syndrome;Hereditary Multiple Exostoses 11 204 0 0 1 0 0 PURB 5814 broad.mit.edu 37 7 44924288 44924288 + Silent SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr7:44924288C>T ENST00000395699.2 - 1 672 c.660G>A c.(658-660)ccG>ccA p.P220P NM_033224.3 NP_150093.1 Q96QR8 PURB_HUMAN purine-rich element binding protein B 220 Gly-rich. regulation of myeloid cell differentiation DNA replication factor A complex mRNA binding|single-stranded DNA binding|transcription factor binding large_intestine(2)|lung(3)|prostate(1)|skin(1) 7 AGGTGCCCTCCGGGAGCTCTC 0.662000 55 99 0 0 1 0 0 OR6F1 343169 broad.mit.edu 37 1 247875926 247875926 + Silent SNP A A G TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr1:247875926A>G ENST00000302084.2 - 1 179 c.132T>C c.(130-132)gcT>gcC p.A44A RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) ACATCAAGATAGCCACATTAC 0.458000 8 225 0 0 1 0 0 AMZ2 51321 broad.mit.edu 37 17 66250562 66250562 + Missense_Mutation SNP T T A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr17:66250562T>A ENST00000359904.3 + 5 1736 c.604T>A c.(604-606)Ttt>Att p.F202I AMZ2_ENST00000392720.2_Missense_Mutation_p.F202I|AMZ2_ENST00000580753.1_Missense_Mutation_p.F202I|AMZ2_ENST00000359783.4_Missense_Mutation_p.F144I|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000577866.1_Missense_Mutation_p.F202I|AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000577985.1_Missense_Mutation_p.F202I NM_016627.4 NP_057711.3 Q86W34 AMZ2_HUMAN archaelysin family metallopeptidase 2 202 metallopeptidase activity|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 9 all_cancers(12;1.12e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) GATATTCAGCTTTGCCAGGTA 0.403000 4 154 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83848538 83848538 + Missense_Mutation SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr6:83848538G>A ENST00000349129.2 + 21 5037 c.4777G>A c.(4777-4779)Gaa>Aaa p.E1593K DOPEY1_ENST00000237163.5_Missense_Mutation_p.E1574K|DOPEY1_ENST00000369739.3_Missense_Mutation_p.E1584K|DOPEY1_ENST00000484282.1_3'UTR NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 1593 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) GATTGTTCTAGAACACAGAGT 0.408000 5 133 0 0 1 0 0 CHD2 1106 broad.mit.edu 37 15 93521546 93521546 + Missense_Mutation SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr15:93521546C>T ENST00000394196.4 + 21 3728 c.2660C>T c.(2659-2661)tCt>tTt p.S887F CHD2_ENST00000557381.1_Missense_Mutation_p.S887F NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 887 Helicase C-terminal. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) ATCTTTGACTCTGACTGGAAC 0.493000 41 65 0 0 1 0 0 FAM160B1 57700 broad.mit.edu 37 10 116593109 116593109 + Missense_Mutation SNP A A G TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr10:116593109A>G ENST00000369248.4 + 3 577 c.242A>G c.(241-243)tAt>tGt p.Y81C FAM160B1_ENST00000369250.3_Missense_Mutation_p.Y81C|FAM160B1_ENST00000369246.1_Missense_Mutation_p.Y81C NM_020940.3 NP_065991.3 Q5W0V3 F16B1_HUMAN family with sequence similarity 160, member B1 81 NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13) 25 TGTATGGAATATTTGCTTCAT 0.398000 5 108 0 0 1 0 0 TSSK2 23617 broad.mit.edu 37 22 19119272 19119272 + Silent SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr22:19119272C>T ENST00000399635.2 + 1 952 c.360C>T c.(358-360)ctC>ctT p.L120L DGCR14_ENST00000252137.6_3'UTR NM_053006.4 NP_443732.3 Q96PF2 TSSK2_HUMAN testis-specific serine kinase 2 120 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1) 11 Colorectal(54;0.0993) TCCGACAGCTCTCCTCCGCCG 0.582000 53 11 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49699404 49699404 + Missense_Mutation SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr3:49699404G>A ENST00000296452.4 + 6 10240 c.10126G>A c.(10126-10128)Gaa>Aaa p.E3376K NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 3376 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CTCGCCTATTGAAGAGGCCAA 0.577000 43 57 0 0 1 0 0 BMPR2 659 broad.mit.edu 37 2 203420609 203420609 + Nonsense_Mutation SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr2:203420609C>T ENST00000374580.4 + 12 2760 c.2221C>T c.(2221-2223)Cag>Tag p.Q741* BMPR2_ENST00000374574.2_Intron NM_001204.6 NP_001195.2 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor, type II (serine/threonine kinase) 741 anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 42 TCTGCCTACTCAGATCTATCC 0.453000 15 70 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102483751 102483751 + Nonsense_Mutation SNP C C G TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr14:102483751C>G ENST00000360184.4 + 40 8251 c.8087C>G c.(8086-8088)tCa>tGa p.S2696* NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 2696 AAA 3 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TACCGTACCTCAGATCAAACA 0.507000 62 51 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152187631 152187631 + Silent SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr1:152187631G>A ENST00000368801.2 - 3 6549 c.6474C>T c.(6472-6474)cgC>cgT p.R2158R FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2158 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTGACCATAGCGGGAAGACG 0.612000 298 5913 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170048404 170048404 + Missense_Mutation SNP C C G TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr2:170048404C>G ENST00000263816.3 - 48 9255 c.8970G>C c.(8968-8970)agG>agC p.R2990S NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2990 LDL-receptor class A 22. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AGCAAGTTCTCCTGGTGCAAT 0.478000 33 76 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152280602 152280602 + Missense_Mutation SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr1:152280602C>T ENST00000368799.1 - 3 6795 c.6760G>A c.(6760-6762)Gaa>Aaa p.E2254K FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2254 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCAGAATCTTCTGAGTGTCCC 0.582000 Ichthyosis 7 715 0 0 1 0 0 TRBV7-3 28595 broad.mit.edu 37 7 142247186 142247186 + RNA SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr7:142247186C>T ENST00000390361.3 - 0 319 AGACGGATCCCTCAGGCCTGA 0.582000 11 103 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111368397 111368397 + Missense_Mutation SNP T T G TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr7:111368397T>G ENST00000428084.1 - 53 6133 c.5861A>C c.(5860-5862)aAt>aCt p.N1954T DOCK4_ENST00000437633.1_Missense_Mutation_p.N1945T|DOCK4_ENST00000494651.2_Missense_Mutation_p.N828T Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1945 Pro-rich. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) CCGGGCCCCATTCTCCAGGTG 0.667000 9 33 0 0 1 0 0 ORM2 5005 broad.mit.edu 37 9 117093902 117093902 + Silent SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr9:117093902G>A ENST00000431067.2 + 4 420 c.384G>A c.(382-384)ttG>ttA p.L128L ORM2_ENST00000412657.1_3'UTR NM_000608.2 NP_000599.1 orosomucoid 2 breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1) 7 Myeloproliferative disorder(63;0.163) CCAAGACCTTGATGTTTGGTT 0.537000 49 29 0 0 1 0 0 CHML 1122 broad.mit.edu 37 1 241797277 241797277 + Nonsense_Mutation SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr1:241797277G>A ENST00000366553.1 - 1 1955 c.1792C>T c.(1792-1794)Cag>Tag p.Q598* OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron NM_001821.3 NP_001812.2 P26374 RAE2_HUMAN choroideremia-like (Rab escort protein 2) 598 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1) 26 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) AAGATCTCCTGGAAAAGTGTT 0.473000 4 146 0 0 1 0 0 ZNF184 7738 broad.mit.edu 37 6 27420188 27420188 + Missense_Mutation SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr6:27420188G>A ENST00000211936.6 - 6 1434 c.1150C>T c.(1150-1152)Cat>Tat p.H384Y ZNF184_ENST00000377419.1_Missense_Mutation_p.H384Y NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 384 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 TCTCCAGTATGAATTTTTTGA 0.368000 29 55 0 0 1 0 0 ZNF516 9658 broad.mit.edu 37 18 74074474 74074474 + Silent SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr18:74074474C>T ENST00000443185.2 - 8 3788 c.3471G>A c.(3469-3471)gtG>gtA p.V1157V ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 1157 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) TTCTCAGAGGCACTGTCTGGA 0.527000 4 20 0 0 1 0 0 FBXW5 54461 broad.mit.edu 37 9 139836000 139836000 + Silent SNP C C T rs145980462 TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr9:139836000C>T ENST00000325285.3 - 7 1312 c.1233G>A c.(1231-1233)tcG>tcA p.S411S FBXW5_ENST00000483559.1_5'UTR NM_018998.3 NP_061871.1 Q969U6 FBXW5_HUMAN F-box and WD repeat domain containing 5 411 catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106) TGTTGTCGGGCGACAGGCCCA 0.672000 6 18 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19732084 19732084 + Missense_Mutation SNP C C A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr21:19732084C>A ENST00000284885.3 - 8 903 c.870G>T c.(868-870)aaG>aaT p.K290N NM_002772.2 NP_002763 P98073 ENTK_HUMAN transmembrane protease, serine 15 290 CUB 1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 CTCTTAAAATCTTGCTTGATC 0.279000 17 105 9.16793e-09 9.74453e-09 1 1 0 ZMYM4 9202 broad.mit.edu 37 1 35836149 35836149 + Missense_Mutation SNP C C G TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr1:35836149C>G ENST00000314607.6 + 7 1182 c.1102C>G c.(1102-1104)Ctg>Gtg p.L368V ZMYM4_ENST00000373297.2_Missense_Mutation_p.L368V|ZMYM4_ENST00000482131.1_3'UTR NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 368 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CTGCTCCACACTGTGCCTCAC 0.463000 4 129 0 0 1 0 0 MIER2 54531 broad.mit.edu 37 19 327209 327209 + Silent SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr19:327209C>T ENST00000264819.4 - 5 427 c.417G>A c.(415-417)acG>acA p.T139T NM_017550.1 NP_060020.1 Q8N344 MIER2_HUMAN mesoderm induction early response 1, family member 2 139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGATGATTGCGTCTCTTCCT 0.463000 10 401 0 0 1 0 0 WDR37 22884 broad.mit.edu 37 10 1123867 1123867 + Silent SNP G G T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr10:1123867G>T ENST00000358220.1 + 3 303 c.159G>T c.(157-159)tcG>tcT p.S53S WDR37_ENST00000263150.4_Silent_p.S53S|WDR37_ENST00000381329.1_Silent_p.S53S Q9Y2I8 WDR37_HUMAN WD repeat domain 37 53 breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1) 17 all_epithelial(10;0.0449)|Colorectal(49;0.142) Epithelial(11;0.134) TGCCTTCCTCGGTTCGCAGTA 0.313000 60 143 1.42676e-28 1.62921e-28 1 1 0 NBEA 26960 broad.mit.edu 37 13 35734101 35734101 + Missense_Mutation SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr13:35734101G>A ENST00000400445.3 + 22 4327 c.3793G>A c.(3793-3795)Gaa>Aaa p.E1265K NBEA_ENST00000540320.1_Missense_Mutation_p.E1265K|NBEA_ENST00000310336.4_Missense_Mutation_p.E1265K|NBEA_ENST00000379939.2_Missense_Mutation_p.E1265K NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 1265 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TTCAGATACTGAAAGGTCTGA 0.363000 10 2 0 0 1 0 0 CNNM3 26505 broad.mit.edu 37 2 97483043 97483043 + Silent SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr2:97483043G>A ENST00000305510.3 + 1 1057 c.1029G>A c.(1027-1029)caG>caA p.Q343Q CNNM3_ENST00000377060.3_Silent_p.Q343Q NM_017623.4 NP_060093.3 Q8NE01 CNNM3_HUMAN cyclin M3 343 CBS 1. ion transport integral to membrane|plasma membrane protein binding NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2) 13 GCATCATGCAGAGCGGCCACA 0.637000 14 28 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94004562 94004562 + Missense_Mutation SNP C C G TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr14:94004562C>G ENST00000553484.1 + 12 1504 c.1350C>G c.(1348-1350)atC>atG p.I450M UNC79_ENST00000555664.1_Missense_Mutation_p.I450M|UNC79_ENST00000393151.2_Missense_Mutation_p.I450M|UNC79_ENST00000256339.4_Missense_Mutation_p.I273M Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 450 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 AAGCCGTGATCAGGTAACACG 0.557000 6 13 0 0 1 0 0 HMHA1 23526 broad.mit.edu 37 19 1081917 1081917 + Missense_Mutation SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr19:1081917C>T ENST00000313093.2 + 19 2705 c.2474C>T c.(2473-2475)tCg>tTg p.S825L HMHA1_ENST00000590214.1_Missense_Mutation_p.S852L|HMHA1_ENST00000539243.2_Missense_Mutation_p.S841L|HMHA1_ENST00000590577.1_Missense_Mutation_p.S460L|HMHA1_ENST00000543365.1_Missense_Mutation_p.S708L|HMHA1_ENST00000586866.1_Missense_Mutation_p.S829L|HMHA1_ENST00000536472.1_Missense_Mutation_p.S693L NM_012292.3 NP_036424.2 Q92619 HMHA1_HUMAN histocompatibility (minor) HA-1 825 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCGCAGGCCTCGCCCCACGAC 0.647000 6 9 0 0 1 0 0 IGFLR1 79713 broad.mit.edu 37 19 36230773 36230773 + Missense_Mutation SNP G G C TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr19:36230773G>C ENST00000592537.1 - 4 659 c.559C>G c.(559-561)Ctc>Gtc p.L187V IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000344990.3_Intron|IGFLR1_ENST00000246532.1_Missense_Mutation_p.L187V|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000588992.1_Intron Q9H665 IGFR1_HUMAN IGF-like family receptor 1 187 integral to membrane|plasma membrane protein binding|receptor activity endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1) 15 GGCCAGCAGAGATGCCAGAGC 0.612000 6 195 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152527322 152527322 + Missense_Mutation SNP T T C TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr6:152527322T>C ENST00000367255.5 - 126 23601 c.23000A>G c.(22999-23001)aAa>aGa p.K7667R SYNE1_ENST00000356820.4_Missense_Mutation_p.K2191R|SYNE1_ENST00000265368.4_Missense_Mutation_p.K7667R|SYNE1_ENST00000423061.1_Missense_Mutation_p.K7596R|SYNE1_ENST00000448038.1_Missense_Mutation_p.K7596R|SYNE1_ENST00000341594.5_Missense_Mutation_p.K7279R NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7667 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GAAGGCTAGTTTTTTCTTCTG 0.448000 HNSCC(10;0.0054) 18 47 0 0 1 0 0 FCGR3A 2214 broad.mit.edu 37 1 161518438 161518438 + Missense_Mutation SNP T T C TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr1:161518438T>C ENST00000367969.3 - 3 383 c.200A>G c.(199-201)gAg>gGg p.E67G FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000436743.1_Missense_Mutation_p.E31G|FCGR3A_ENST00000443193.1_Missense_Mutation_p.E66G|FCGR3A_ENST00000540048.1_Missense_Mutation_p.E31G|RP11-25K21.6_ENST00000537821.2_RNA NM_000569.6 NP_000560.5 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor (CD16a) 31 Ig-like C2-type 1. immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CCATTGAGGCTCCAGGAACAC 0.552000 7 220 0 0 1 0 0 GSTM5 2949 broad.mit.edu 37 1 110257751 110257751 + Splice_Site SNP G G T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr1:110257751G>T ENST00000369813.1 + 5 1238 c.e5-1 GSTM5_ENST00000492718.1_Splice_Site|GSTM5_ENST00000256593.3_Splice_Site|GSTM5_ENST00000369812.5_Splice_Site P46439 GSTM5_HUMAN glutathione S-transferase mu 5 xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity p.?(1) NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 21 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) GCCTTCTTCAGATCACCTTTG 0.448000 117 78 8.97248e-49 1.04576e-48 1 1 0 SPN 6693 broad.mit.edu 37 16 29675414 29675414 + Missense_Mutation SNP C C A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr16:29675414C>A ENST00000360121.3 + 2 457 c.365C>A c.(364-366)gCa>gAa p.A122E SPN_ENST00000395389.2_Missense_Mutation_p.A122E NM_001030288.2|NM_003123.4 NP_001025459.1|NP_003114.1 P16150 LEUK_HUMAN sialophorin 122 blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process extracellular space|integral to plasma membrane bacterial cell surface binding|transmembrane receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1) 15 CCCATAACAGCAAACTCTCTA 0.522000 13 83 1.05317e-09 1.13367e-09 1 1 0 GSS 2937 broad.mit.edu 37 20 33519217 33519217 + Missense_Mutation SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr20:33519217C>T ENST00000216951.2 - 11 1131 c.1033G>A c.(1033-1035)Gaa>Aaa p.E345K GSS_ENST00000451957.2_Missense_Mutation_p.E234K|GSS_ENST00000541098.1_Missense_Mutation_p.E217K NM_000178.2 NP_000169.1 P48637 GSHB_HUMAN glutathione synthetase 345 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) TCCCCTTCTTCACCCTGGCAG 0.552000 22 24 0 0 1 0 0 METTL5 29081 broad.mit.edu 37 2 170678532 170678532 + Missense_Mutation SNP C C A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr2:170678532C>A ENST00000410097.1 - 3 280 c.145G>T c.(145-147)Gac>Tac p.D49Y METTL5_ENST00000409837.1_Missense_Mutation_p.D49Y|METTL5_ENST00000392640.2_Missense_Mutation_p.D49Y|METTL5_ENST00000260953.5_Missense_Mutation_p.D49Y|METTL5_ENST00000409965.1_Missense_Mutation_p.D49Y|METTL5_ENST00000409340.1_Intron|METTL5_ENST00000308099.3_Missense_Mutation_p.D49Y Q9NRN9 METL5_HUMAN methyltransferase like 5 49 methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1) 10 TTTTCAATGTCATCATAAGTG 0.348000 40 154 7.62715e-32 8.76862e-32 1 1 0 AHNAK2 113146 broad.mit.edu 37 14 105417197 105417197 + Missense_Mutation SNP A A C TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr14:105417197A>C ENST00000333244.5 - 7 4710 c.4591T>G c.(4591-4593)Tcc>Gcc p.S1531A AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1531 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCCTGCATGGAGGGGAGGCTC 0.637000 24 481 0 0 1 0 0 IFT43 112752 broad.mit.edu 37 14 76549820 76549820 + Missense_Mutation SNP G G T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr14:76549820G>T ENST00000314067.6 + 9 561 c.527G>T c.(526-528)tGg>tTg p.W176L IFT43_ENST00000238628.6_Missense_Mutation_p.W181L NM_001102564.1 NP_001096034.1 Q96FT9 IFT43_HUMAN intraflagellar transport 43 homolog (Chlamydomonas) 176 cilium morphogenesis|intraflagellar retrograde transport endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 GGCTGGGACTGGGACCATCTG 0.587000 27 65 3.73988e-18 4.13098e-18 1 1 0 KDM6A 7403 broad.mit.edu 37 X 44948987 44948987 + Splice_Site SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chrX:44948987G>A ENST00000377967.4 + 25 3589 c.e25-1 KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TCTTATTTCAGAAATAATTTG 0.323000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 37 1 0 0 1 0 0 RPS10-NUDT3 100529239 broad.mit.edu 37 6 34392899 34392899 + Missense_Mutation SNP C C G rs148020948 TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr6:34392899C>G ENST00000605528.1 - 2 116 c.100G>C c.(100-102)Gag>Cag p.E34Q RPS10_ENST00000344700.3_Missense_Mutation_p.E34Q|RPS10_ENST00000494077.1_5'UTR|RPS10_ENST00000326199.8_Missense_Mutation_p.E34Q NM_001202470.2 NP_001189399.1 TCTGCCAGCTCCGGGTGCTTA 0.522000 24 25 0 0 1 0 0 CEP170 9859 broad.mit.edu 37 1 243349238 243349238 + Missense_Mutation SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr1:243349238C>T ENST00000366542.1 - 10 1460 c.1409G>A c.(1408-1410)aGa>aAa p.R470K CEP170_ENST00000366544.1_Intron|CEP170_ENST00000366543.1_Intron NM_014812.2 NP_055627.2 Q5SW79 CE170_HUMAN centrosomal protein 170kDa 470 centriole|microtubule|spindle NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) CTGGCTTGGTCTGTGCCCAAG 0.403000 28 90 0 0 1 0 0 SLCO4A1 28231 broad.mit.edu 37 20 61288369 61288369 + Missense_Mutation SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr20:61288369C>T ENST00000217159.1 + 2 768 c.563C>T c.(562-564)gCg>gTg p.A188V SLCO4A1_ENST00000370507.1_Missense_Mutation_p.A188V NM_016354.3 NP_057438.3 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family, member 4A1 188 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2) 21 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) CTGGTGTTCGCGCTGCCCCAC 0.692000 11 55 0 0 1 0 0 CEACAM7 1087 broad.mit.edu 37 19 42190994 42190994 + Missense_Mutation SNP C C A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr19:42190994C>A ENST00000006724.3 - 2 424 c.223G>T c.(223-225)Gcc>Tcc p.A75S CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000338196.4_Missense_Mutation_p.A75S|CEACAM7_ENST00000401731.1_Missense_Mutation_p.A75S|CEACAM7_ENST00000602225.1_Missense_Mutation_p.A75S NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 75 Ig-like V-type. anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) CGATAGTTGGCATGCACCCTT 0.458000 37 177 6.53348e-20 7.3123e-20 1 1 0 PAQR6 79957 broad.mit.edu 37 1 156214491 156214491 + Missense_Mutation SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr1:156214491C>T ENST00000335852.1 - 6 1118 c.503G>A c.(502-504)aGa>aAa p.R168K PAQR6_ENST00000292291.5_Intron|PAQR6_ENST00000492619.1_Intron|PAQR6_ENST00000540423.1_Intron|PAQR6_ENST00000368270.1_Intron|PAQR6_ENST00000356983.2_Missense_Mutation_p.R168K NM_024897.3 NP_079173.2 Q6TCH4 PAQR6_HUMAN progestin and adipoQ receptor family member VI 0 integral to membrane receptor activity lung(4)|ovary(1) 5 Hepatocellular(266;0.158) CCAGTTCATTCTGTGCTCTGG 0.567000 15 42 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53837475 53837475 + Missense_Mutation SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr3:53837475C>T ENST00000288139.4 + 45 5639 c.5521C>T c.(5521-5523)Cca>Tca p.P1841S CACNA1D_ENST00000350061.5_Missense_Mutation_p.P1821S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1797S|CACNA1D_ENST00000544977.1_Missense_Mutation_p.P200S NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TGAACAGCTCCCAACTATTTG 0.552000 5 184 0 0 1 0 0 TGS1 96764 broad.mit.edu 37 8 56699251 56699251 + Missense_Mutation SNP C C G rs61754800 byFrequency TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr8:56699251C>G ENST00000260129.5 + 4 1271 c.794C>G c.(793-795)tCg>tGg p.S265W NM_024831.6 NP_079107.6 Q96RS0 TGS1_HUMAN trimethylguanosine synthase 1 265 cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) TTTGATGCCTCGCAAAGCTGT 0.363000 62 121 0 0 1 0 0 DDX27 55661 broad.mit.edu 37 20 47838083 47838083 + Missense_Mutation SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr20:47838083C>T ENST00000371764.4 + 2 290 c.281C>T c.(280-282)aCg>aTg p.T94M DDX27_ENST00000484427.1_3'UTR NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 94 Asp/Glu/Lys-rich. nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) AAGGAGGGGACGTACGATGGC 0.522000 32 36 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883790 228883790 + Missense_Mutation SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr2:228883790C>T ENST00000392056.3 - 7 1826 c.1780G>A c.(1780-1782)Gag>Aag p.E594K SPHKAP_ENST00000344657.5_Missense_Mutation_p.E594K NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 594 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TCAGAAGCCTCAGCTGCAGGC 0.567000 15 40 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126373058 126373058 + Silent SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr4:126373058C>T ENST00000394329.3 + 9 10900 c.10887C>T c.(10885-10887)ccC>ccT p.P3629P FAT4_ENST00000335110.5_Silent_p.P1927P NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3629 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ACTTGTTTCCCGGTGGGATTT 0.448000 4 129 0 0 1 0 0 ATP13A2 23400 broad.mit.edu 37 1 17316686 17316686 + Missense_Mutation SNP C C A rs137955309 byFrequency TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr1:17316686C>A ENST00000452699.1 - 21 2522 c.2333G>T c.(2332-2334)cGg>cTg p.R778L RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Missense_Mutation_p.R783L|ATP13A2_ENST00000341676.5_Missense_Mutation_p.R778L NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 783 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) AGGCTGACCCCGCTCAGGGTG 0.647000 34 29 4.3181e-19 4.80104e-19 1 1 0 DNAAF2 55172 broad.mit.edu 37 14 50101108 50101108 + Missense_Mutation SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr14:50101108G>A ENST00000298292.8 - 1 840 c.760C>T c.(760-762)Cgc>Tgc p.R254C DNAAF2_ENST00000406043.3_Missense_Mutation_p.R254C NM_018139.2 NP_060609.2 Q9NVR5 KTU_HUMAN dynein, axonemal, assembly factor 2 254 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm kidney(1)|lung(4) 5 ACGCTGTAGCGAGGCTCGGTG 0.711000 4 20 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 4 106 0 0 1 0 0 E2F8 79733 broad.mit.edu 37 11 19246349 19246349 + Silent SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr11:19246349G>A ENST00000527884.1 - 13 2692 c.2460C>T c.(2458-2460)gcC>gcT p.A820A RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Silent_p.A820A NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 820 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGAAACTTTCGGCCACTAATT 0.473000 3 50 0 0 1 0 0 OR10A7 121364 broad.mit.edu 37 12 55615694 55615694 + Nonsense_Mutation SNP G G T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr12:55615694G>T ENST00000326258.1 + 1 886 c.886G>T c.(886-888)Gaa>Taa p.E296* NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 GAGGAACAATGAAGTGAAAGG 0.433000 25 89 1.68575e-08 1.78058e-08 1 1 0 RYR2 6262 broad.mit.edu 37 1 237947385 237947385 + Missense_Mutation SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr1:237947385G>A ENST00000366574.2 + 90 12690 c.12373G>A c.(12373-12375)Gtc>Atc p.V4125I RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.V4131I|RYR2_ENST00000542537.1_Missense_Mutation_p.V4109I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4125 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.V4123I(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGCAGAGAGCGTCCTGAATTA 0.512000 18 76 0 0 1 0 0 TMEM95 339168 broad.mit.edu 37 17 7260006 7260006 + Missense_Mutation SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr17:7260006C>T ENST00000389982.4 + 7 660 c.578C>T c.(577-579)cCa>cTa p.P193L TMEM95_ENST00000330767.4_3'UTR|TMEM95_ENST00000576060.1_3'UTR Q3KNT9 TMM95_HUMAN transmembrane protein 95 0 integral to membrane large_intestine(1)|lung(2) 3 Prostate(122;0.173) TCACAACTTCCACATCCCTTG 0.542000 10 24 0 0 1 0 0 KIAA0355 9710 broad.mit.edu 37 19 34842462 34842462 + Missense_Mutation SNP C C A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr19:34842462C>A ENST00000299505.6 + 13 3742 c.2869C>A c.(2869-2871)Cca>Aca p.P957T AC010504.2_ENST00000591311.1_RNA NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 957 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) GCTGCCCTCACCACCTCTCCT 0.587000 6 154 8.12818e-05 8.37599e-05 1 1 0 ALPK2 115701 broad.mit.edu 37 18 56202326 56202326 + Missense_Mutation SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr18:56202326G>A ENST00000361673.3 - 5 5306 c.5093C>T c.(5092-5094)tCg>tTg p.S1698L NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1698 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 GGTCCCTGGCGATTTGCCTGC 0.552000 73 61 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109807624 109807624 + Missense_Mutation SNP G G C TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr1:109807624G>C ENST00000271332.3 + 12 5660 c.5599G>C c.(5599-5601)Gag>Cag p.E1867Q NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1867 EGF-like 6; calcium-binding. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GCCATACTGTGAGACCAGGTA 0.602000 6 135 0 0 1 0 0 IL22 50616 broad.mit.edu 37 12 68642644 68642644 + Nonsense_Mutation SNP C C A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr12:68642644C>A ENST00000538666.1 - 6 545 c.475G>T c.(475-477)Gga>Tga p.G159* IL22_ENST00000328087.4_Nonsense_Mutation_p.G159* Q9GZX6 IL22_HUMAN interleukin 22 159 acute-phase response extracellular space cytokine activity|interleukin-22 receptor binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7) 14 Myeloproliferative disorder(1001;0.0255) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104) TTGATCTCTCCACTCTCTCCA 0.368000 772 238 0 0 1 1 0 INTS5 80789 broad.mit.edu 37 11 62414839 62414839 + Missense_Mutation SNP C C G TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr11:62414839C>G ENST00000330574.2 - 2 2765 c.2713G>C c.(2713-2715)Gag>Cag p.E905Q NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 905 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 CAGGATGCCTCCAGGTGCCAG 0.617000 74 42 0 0 1 0 0 DRD2 1813 broad.mit.edu 37 11 113295146 113295146 + Silent SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr11:113295146G>A ENST00000362072.3 - 2 572 c.228C>T c.(226-228)ctC>ctT p.L76L DRD2_ENST00000542968.1_Silent_p.L76L|DRD2_ENST00000544518.1_Silent_p.L76L|DRD2_ENST00000346454.3_Silent_p.L76L|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000538967.1_Silent_p.L76L|DRD2_ENST00000355319.2_Silent_p.L76L NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 76 activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) CGGCCACTGCGAGGCTGACGA 0.627000 13 34 0 0 1 0 0 UCK2 7371 broad.mit.edu 37 1 165859512 165859512 + Silent SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr1:165859512C>T ENST00000367879.4 + 2 474 c.171C>T c.(169-171)gtC>gtT p.V57V UCK2_ENST00000372212.4_Silent_p.V57V NM_012474.4 NP_036606.2 Q9BZX2 UCK2_HUMAN uridine-cytidine kinase 2 57 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) AGCAGGTGGTCATCCTGAGCC 0.572000 61 60 0 0 1 0 0 SLC16A6 9120 broad.mit.edu 37 17 66268801 66268801 + Missense_Mutation SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr17:66268801C>T ENST00000327268.4 - 5 648 c.484G>A c.(484-486)Gct>Act p.A162T ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.A162T NM_001174166.1 NP_001167637.1 O15403 MOT7_HUMAN solute carrier family 16, member 6 162 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2) 15 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) GCAAACACAGCGAAACATTCT 0.438000 31 143 0 0 1 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6424246 6424246 + Missense_Mutation SNP G G C TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr12:6424246G>C ENST00000449001.2 + 3 768 c.274G>C c.(274-276)Gag>Cag p.E92Q PLEKHG6_ENST00000536531.1_Missense_Mutation_p.E124Q|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.E124Q|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.E124Q NM_001144857.1 NP_001138329.1 Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 124 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 GCTGCCCCCTGAGGACCGGCG 0.637000 4 83 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 4 79 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84608072 84608072 + Missense_Mutation SNP G G A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr9:84608072G>A ENST00000344803.2 + 4 2734 c.2687G>A c.(2686-2688)aGt>aAt p.S896N NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 TCCTTCCTTAGTTCCAACAAA 0.433000 5 252 0 0 1 0 0 C1orf85 112770 broad.mit.edu 37 1 156262910 156262927 + In_Frame_Del DEL CCCTGGGGCACCCAGGGC CCCTGGGGCACCCAGGGC - TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr1:156262910_156262927delCCCTGGGGCACCCAGGGC ENST00000362007.1 - 6 1155_1172 c.1129_1146delGCCCTGGGTGCCCCAGGG c.(1129-1146)gccctgggtgccccagggdel p.ALGAPG377del C1orf85_ENST00000482579.1_5'UTR NM_001256604.1|NM_001256609.1|NM_144580.2 NP_001243533.1|NP_001243538.1|NP_653181.1 Q8WWB7 NCUG1_HUMAN chromosome 1 open reading frame 85 377 positive regulation of transcription from RNA polymerase II promoter cytosol|integral to membrane|lysosomal membrane|nucleus ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3) 14 Hepatocellular(266;0.158) GCAGCATGAGCCCTGGGGCACCCAGGGCCACTGCCATG 0.592 39 135 --- --- --- --- H1FOO 132243 broad.mit.edu 37 3 129268107 129268108 + Frame_Shift_Ins INS - - A rs150160917 by1000genomes TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr3:129268107_129268108insA ENST00000324382.2 + 3 647_648 c.642_643insA c.(643-645)aggfs p.R215fs H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.R76fs NM_153833.1 NP_722575.1 Q8IZA3 H1FOO_HUMAN H1 histone family, member O, oocyte-specific 215 meiosis|nucleosome assembly cytoplasm|nucleosome DNA binding endometrium(1)|lung(4)|skin(1) 6 CGGGAGAGGCTAGGAAGGTGCC 0.653 2 4 --- --- --- --- IGHV4-59 28392 broad.mit.edu 37 14 107083153 107083154 + RNA DEL CG CG - TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr14:107083153_107083154delCG ENST00000455737.1 - 0 404 CTGTGGGCCCCGCGCGCCCCCT 0.693 11 62 --- --- --- --- RP11-44F14.1 0 broad.mit.edu 37 16 53404542 53404543 + RNA INS - - A TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr16:53404542_53404543insA ENST00000565421.1 - 0 410 TCTCCTTTCTCAAACTTAACCT 0.327 8 35 --- --- --- --- LCAT 3931 broad.mit.edu 37 16 67974104 67974112 + In_Frame_Del DEL GCCCACGCC GCCCACGCC - rs112299487 TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr16:67974104_67974112delGCCCACGCC ENST00000264005.5 - 6 1047_1055 c.1018_1026delGGCGTGGGC c.(1018-1026)ggcgtgggcdel p.GVG340del NM_000229.1 NP_000220.1 P04180 LCAT_HUMAN lecithin-cholesterol acyltransferase 340 cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1) 16 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12) GCGTGGGCAGGCCCACGCCGTAAAGACAG 0.608 23 142 --- --- --- --- TRIM47 91107 broad.mit.edu 37 17 73872347 73872359 + Frame_Shift_Del DEL AGGAAGCTGACTG AGGAAGCTGACTG - TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr17:73872347_73872359delAGGAAGCTGACTG ENST00000254816.2 - 3 1012_1024 c.986_998delCAGTCAGCTTCCT c.(985-999)tcagtcagcttcctgfs p.SVSFL329fs TRIM47_ENST00000587339.1_Frame_Shift_Del_p.SVSFL91fs NM_033452.2 NP_258411.2 Q96LD4 TRI47_HUMAN tripartite motif containing 47 329 cytoplasm|nucleus zinc ion binding autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) CTTCACCTGCAGGAAGCTGACTGAGTCAGCTTC 0.657 7 42 --- --- --- --- FRG1B 284802 broad.mit.edu 37 20 29628226 29628226 + Splice_Site DEL G G - rs78710112 by1000genomes TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr20:29628226delG ENST00000278882.3 + 6 608 c.e6-1 FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTTCACTTAGGGGAAAATGG 0.358 8 180 --- --- --- --- LINC00479 150135 broad.mit.edu 37 21 43132647 43132647 + RNA DEL C C - TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1e8febe-171e-484d-a3c7-ff7569805eba 3dbdcf72-42c9-4918-9a82-f3889228cc92 g.chr21:43132647delC ENST00000412102.1 - 0 1065 NR_027272.1 agcctgacagcagccgctcgc 0.667 2 4 --- --- --- ---