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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut CSMD1 64478 broad.mit.edu 37 8 3076863 3076863 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:3076863C>T uc022aqr.1 - 28 4976 c.4586G>A c.(4585-4587)aGa>aAa p.R1529K CSMD1_uc011kwj.2_Missense_Mutation_p.R922K|CSMD1_uc003wqe.3_Missense_Mutation_p.R686K NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1530 CUB 9. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACTCTCTATTCTTTCTGGGGC 0.507000 4 3 0 0 0.004672 0 0 PEX5 5830 broad.mit.edu 37 12 7343061 7343061 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:7343061C>T uc009zfu.2 + 2 668 c.88C>T c.(88-90)Ctt>Ttt p.L30F PEX5_uc001qsw.3_Missense_Mutation_p.L30F|PEX5_uc010sgc.2_Missense_Mutation_p.L30F|PEX5_uc001qsu.3_Missense_Mutation_p.L30F|PEX5_uc010sgd.2_Missense_Mutation_p.L51F|PEX5_uc001qsv.3_Missense_Mutation_p.L30F NM_001131026 NP_001124498 P50542 PEX5_HUMAN Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA. 30 protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1) 21 GGACAAGGCCCTTCGGCAGGA 0.677000 44 6 0 0 0.001984 0 0 OR5M11 219487 broad.mit.edu 37 11 56309817 56309817 + Splice_Site SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr11:56309817C>T uc010rjl.2 - 1 918 c.918_splice c.e1+1 p.*306_splice OR8U8_uc001nit.2_Intron NM_001005245 NP_001005245 Q96RB7 OR5MB_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA. 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 GACAATATTTCATCTCAGGAC 0.383000 26 3 0 0 0.009096 0 0 TMEM132B 114795 broad.mit.edu 37 12 126128629 126128629 + Missense_Mutation SNP A G G TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:126128629A>G uc001uhe.1 + 5 1438 c.1430A>G c.(1429-1431)aAc>aGc p.N477S TMEM132B_uc001uhf.1_5'UTR NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 477 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) AAGGTTTCCAACAACTGTGAT 0.448000 24 8 0 0 0.004482 0 0 REPS2 9185 broad.mit.edu 37 X 17040294 17040294 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:17040294G>A uc004cxv.1 + 2 617 c.446G>A c.(445-447)cGa>cAa p.R149Q REPS2_uc004cxw.1_Missense_Mutation_p.R149Q|REPS2_uc011miw.1_Missense_Mutation_p.R9Q NM_004726 NP_004717 Q8NFH8 REPS2_HUMAN Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 1, mRNA. 149 epidermal growth factor receptor signaling pathway|protein complex assembly cytoplasm calcium ion binding|protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1) 17 Hepatocellular(33;0.183) GGTGAGATACGATTTGGGAAC 0.393000 95 18 0 0 0.007413 0 0 PRRC2A 7916 broad.mit.edu 37 6 31596995 31596995 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:31596995C>T uc003nvb.4 + 12 2089 c.1840C>T c.(1840-1842)Cca>Tca p.P614S PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.P614S NM_080686 NP_542417 P48634 PRC2A_HUMAN Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA. 614 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 ACCCCCAGTTCCAAAGGTGGA 0.552000 98 26 0 0 0.027356 0 0 FAM83B 222584 broad.mit.edu 37 6 54805208 54805208 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:54805208G>A uc003pck.3 + 4 1555 c.1439G>A c.(1438-1440)cGa>cAa p.R480Q NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 480 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TTGCAACAACGAATGCCAACC 0.413000 44 16 0 0 0.010504 0 0 SI 6476 broad.mit.edu 37 3 164750437 164750437 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:164750437C>T uc003fei.3 - 23 2672 c.2609G>A c.(2608-2610)gGa>gAa p.G870E NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 870 Isomaltase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TAAGGTAGTTCCTTCCTGATA 0.348000 HNSCC(35;0.089) 34 6 0 0 0.001984 0 0 SLC9C2 284525 broad.mit.edu 37 1 173567119 173567119 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:173567119G>A uc001giz.2 - 3 704 c.281C>T c.(280-282)tCt>tTt p.S94F SLC9C2_uc010pmq.1_Non-coding_Transcript NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA. 94 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TGAAAAGTAAGAATAAAGTGA 0.308000 51 6 0 0 0.021553 0 0 FOLH1B 219595 broad.mit.edu 37 11 89424095 89424095 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr11:89424095G>A uc001pda.3 + 10 1271 c.745G>A c.(745-747)Gaa>Aaa p.E249K NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN Homo sapiens folate hydrolase 1B (FOLH1B), mRNA. 249 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 CAGTGTCTATGAAACATATGA 0.368000 23 8 0 0 0.006214 0 0 WDR13 64743 broad.mit.edu 37 X 48463396 48463396 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:48463396C>T uc004dkj.2 + 8 1939 c.1434C>T c.(1432-1434)atC>atT p.I478I WDR13_uc004dkk.2_Silent_p.I386I|WDR13_uc004dkl.4_Silent_p.I386I NM_017883 NP_001159898 Q9H1Z4 WDR13_HUMAN Homo sapiens WD repeat domain 13 (WDR13), transcript variant 1, mRNA. 478 cytoplasm|nucleus endometrium(1)|large_intestine(4)|lung(4)|ovary(2) 11 GCATGGTCATCGTCTGGAGGC 0.587000 21 4 0 0 0.014758 0 0 SLC28A3 64078 broad.mit.edu 37 9 86920249 86920249 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr9:86920249C>T uc010mpz.3 - 3 400 c.254G>A c.(253-255)aGg>aAg p.R85K SLC28A3_uc011lsy.2_Missense_Mutation_p.R16K|SLC28A3_uc004anu.2_Missense_Mutation_p.R85K|SLC28A3_uc010mqb.3_Missense_Mutation_p.R16K NM_001199633 NP_001186562 Q9HAS3 S28A3_HUMAN Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA. 85 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GTCATACCTCCTTTCCAAACA 0.383000 33 5 0 0 0.001984 0 0 DCHS2 54798 broad.mit.edu 37 4 155241981 155241981 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:155241981G>A uc003inw.2 - 13 3205 c.3205C>T c.(3205-3207)Ccc>Tcc p.P1069S NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA. 1069 Cadherin 9. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GTTCCTATGGGAACATTCTCC 0.438000 74 21 0 0 0.008871 0 0 MICAL3 57553 broad.mit.edu 37 22 18301315 18301315 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr22:18301315G>A uc002zng.4 - 25 4465 c.4112C>T c.(4111-4113)tCc>tTc p.S1371F MICAL3_uc011agl.2_Missense_Mutation_p.S1287F|MICAL3_uc010gre.2_5'Flank NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA. 1371 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) ATCCTGGGGGGACTTTTCAAC 0.637000 168 15 0 0 0.028581 0 0 CELA2A 63036 broad.mit.edu 37 1 15789236 15789236 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:15789236G>A uc001awk.3 + 3 262 c.236G>A c.(235-237)aGg>aAg p.R79K NM_033440 NP_254275 P08217 CEL2A_HUMAN Homo sapiens chymotrypsin-like elastase family, member 2A (CELA2A), mRNA. 79 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1) 16 AGCTCCTCCAGGACCTACCGC 0.617000 62 18 0 0 0.007413 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935697 151935697 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:151935697G>A uc022chl.1 - 0 470 c.470C>T c.(469-471)tCc>tTc p.S157F MAGEA3_uc004fgp.3_Missense_Mutation_p.S157F NM_005362 NP_005353 P43357 MAGA3_HUMAN Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA. 157 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) CAGCTGCAAGGAACTGGAAGC 0.547000 84 10 0 0 0.006214 0 0 OBSCN 84033 broad.mit.edu 37 1 228444355 228444355 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:228444355C>T uc009xez.1 + 14 4357 c.4313C>T c.(4312-4314)cCc>cTc p.P1438L OBSCN_uc001hsn.3_Missense_Mutation_p.P1438L NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 1438 Ig-like 15. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TCCCCAGAGCCCAAGGTGGTG 0.642000 33 4 0 0 0.009096 0 0 DNAH3 55567 broad.mit.edu 37 16 20999122 20999122 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr16:20999122C>T uc010vbe.2 - 45 6775 c.6775G>A c.(6775-6777)Gtg>Atg p.V2259M DNAH3_uc010vbd.2_5'Flank NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 2259 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AAGTTCTCCACTGCATCTCTA 0.502000 55 5 0 0 0.021553 0 0 ROBO1 6091 broad.mit.edu 37 3 78667013 78667013 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:78667013C>T uc003dqe.2 - 26 4262 c.4054G>A c.(4054-4056)Gag>Aag p.E1352K ROBO1_uc003dqc.2_Missense_Mutation_p.E1252K|ROBO1_uc003dqd.2_Missense_Mutation_p.E1307K|ROBO1_uc003dqb.2_Missense_Mutation_p.E1313K|ROBO1_uc010hoh.2_Missense_Mutation_p.E544K|ROBO1_uc011bgl.1_Missense_Mutation_p.E924K NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA. 1352 Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis cell surface|cytoplasm|integral to plasma membrane LRR domain binding|axon guidance receptor activity|identical protein binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GGTGTCTGCTCAAGCCCACGT 0.557000 37 7 0 0 0.008291 0 0 NPHS1 4868 broad.mit.edu 37 19 36330278 36330278 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:36330278G>A uc002oby.3 - 21 3126 c.2970C>T c.(2968-2970)gtC>gtT p.V990V NPHS1_uc010eem.1_Non-coding_Transcript NM_004646 NP_004637 O60500 NPHN_HUMAN Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA. 990 Fibronectin type-III. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGGGTGGTACGACATCCACAT 0.582000 38 14 0 0 0.020292 0 0 GPR179 440435 broad.mit.edu 37 17 36482779 36482780 + Nonsense_Mutation DNP CC TT TT TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:36482779_36482780CC>TT uc002hpz.3 - 10 6693_6694 c.6672_6673GG>AA c.(6670-6675)tgggaa>tgAAaa p.2224_2225WE>*K NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA. 2224 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TCTGTGATTTCCCATTGGCACA 0.554000 65 11 0 0 0.004672 0 0 PLCB1 23236 broad.mit.edu 37 20 8770195 8770195 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr20:8770195C>T uc002wnb.3 + 29 3312 c.3309C>T c.(3307-3309)atC>atT p.I1103I PLCB1_uc002wna.3_Silent_p.I1103I NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA. 1103 CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission cytosol|nuclear chromatin|nuclear speck GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 GGTCATATATCCAGGAAGTGG 0.423000 79 16 0 0 0.007413 0 0 PROX1 5629 broad.mit.edu 37 1 214171436 214171436 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:214171436G>A uc001hkh.3 + 1 1830 c.1558G>A c.(1558-1560)Gat>Aat p.D520N PROX1_uc001hkg.1_Missense_Mutation_p.D520N NM_002763 NP_002754 Q92786 PROX1_HUMAN Homo sapiens prospero homeobox 1 (PROX1), mRNA. 520 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CTTAACTAGGGATACCACGAG 0.557000 88 10 0 0 0.013537 0 0 NFATC4 4776 broad.mit.edu 37 14 24839583 24839583 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr14:24839583C>T uc001wpc.3 + 1 1300 c.979C>T c.(979-981)Cct>Tct p.P327S NFATC4_uc010alr.3_Missense_Mutation_p.P390S|NFATC4_uc010tok.2_Missense_Mutation_p.P390S|NFATC4_uc010tol.2_Missense_Mutation_p.P390S|NFATC4_uc010als.2_Missense_Mutation_p.P340S|NFATC4_uc010too.2_Missense_Mutation_p.P340S|NFATC4_uc010tom.2_Missense_Mutation_p.P340S|NFATC4_uc010ton.2_Missense_Mutation_p.P340S|NFATC4_uc010toq.2_Missense_Mutation_p.P359S|NFATC4_uc010alt.3_Missense_Mutation_p.P359S|NFATC4_uc010top.2_Missense_Mutation_p.P359S|NFATC4_uc010alu.3_Intron|NFATC4_uc010tor.2_Missense_Mutation_p.P327S|NFATC4_uc010tos.2_Missense_Mutation_p.P257S|NFATC4_uc010tot.2_Missense_Mutation_p.P315S|NFATC4_uc010tou.2_Missense_Mutation_p.P257S|NFATC4_uc010tov.2_Missense_Mutation_p.P315S|NFATC4_uc010tow.2_Missense_Mutation_p.P257S|NFATC4_uc010alv.3_Missense_Mutation_p.P315S|NFATC4_uc010tox.2_Missense_Mutation_p.P257S|NFATC4_uc001wpd.3_5'Flank|NFATC4_uc010toy.2_5'Flank|NFATC4_uc010toz.2_5'Flank NM_004554 NP_001185895 Q14934 NFAC4_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA. 327 Pro-rich. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) TGAGAGCATCCCTCAGAAGAC 0.662000 27 6 0 0 0.001984 0 0 MECOM 2122 broad.mit.edu 37 3 168833264 168833264 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:168833264C>T uc011bpj.1 - 7 2799 c.2396G>A c.(2395-2397)gGa>gAa p.G799E MECOM_uc010hwk.1_Missense_Mutation_p.G634E|MECOM_uc003ffj.3_Missense_Mutation_p.G676E|MECOM_uc003ffi.3_Missense_Mutation_p.G611E|MECOM_uc011bpi.1_Missense_Mutation_p.G612E|MECOM_uc003ffn.3_Missense_Mutation_p.G611E|MECOM_uc003ffk.2_Missense_Mutation_p.G611E|MECOM_uc003ffl.2_Missense_Mutation_p.G771E|MECOM_uc011bpk.1_Missense_Mutation_p.G611E|MECOM_uc010hwn.2_Missense_Mutation_p.G799E NM_004991 NP_004982 Q13465 MDS1_HUMAN Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA. 20 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TCCTTTTTTTCCCCCAAACAC 0.502000 25 9 0 0 0.006214 0 0 GSDMC 56169 broad.mit.edu 37 8 130765061 130765061 + Missense_Mutation SNP C T T rs142034966 TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:130765061C>T uc003ysr.3 - 6 1609 c.727G>A c.(727-729)Gaa>Aaa p.E243K NM_031415 NP_113603 Q9BYG8 GSDMC_HUMAN Homo sapiens gasdermin C (GSDMC), mRNA. 243 mitochondrion p.E243K(2) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 26 tcggaaatttcgtactcttgg 0.488000 71 7 0 0 0.001984 0 0 GON4L 54856 broad.mit.edu 37 1 155736235 155736235 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:155736235G>A uc001flz.2 - 20 3126 c.3029C>T c.(3028-3030)cCc>cTc p.P1010L GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Non-coding_Transcript|GON4L_uc001fly.1_Missense_Mutation_p.P1010L|GON4L_uc009wrh.1_Missense_Mutation_p.P1010L|GON4L_uc001fma.1_Missense_Mutation_p.P1010L|GON4L_uc001fmb.4_Missense_Mutation_p.P206L|GON4L_uc001fmc.3_Missense_Mutation_p.P1010L|GON4L_uc001fmd.4_Missense_Mutation_p.P1010L|GON4L_uc009wri.3_Missense_Mutation_p.P596L NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA. 1010 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) CTGGAGAGAGGGGCTGGGTTG 0.557000 75 17 0 0 0.006122 0 0 IL7R 3575 broad.mit.edu 37 5 35876446 35876446 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:35876446G>A uc003jjs.3 + 7 1327 c.1238G>A c.(1237-1239)aGc>aAc p.S413N IL7R_uc011cop.2_Non-coding_Transcript NM_002185 NP_002176 P16871 IL7RA_HUMAN Homo sapiens interleukin 7 receptor (IL7R), mRNA. 413 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) ACTACAAACAGCACGCTGCCC 0.522000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 40 14 0 0 0.028581 0 0 NLRP3 114548 broad.mit.edu 37 1 247588534 247588534 + Missense_Mutation SNP A C C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:247588534A>C uc001icr.3 + 4 1927 c.1789A>C c.(1789-1791)Agt>Cgt p.S597R NLRP3_uc001ics.3_Missense_Mutation_p.S597R|NLRP3_uc001icu.3_Missense_Mutation_p.S597R|NLRP3_uc001icw.3_Missense_Mutation_p.S597R|NLRP3_uc001icv.3_Missense_Mutation_p.S597R|NLRP3_uc010pyw.2_Missense_Mutation_p.S595R|NLRP3_uc001ict.1_Missense_Mutation_p.S595R NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 597 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GAAGAAATTAAGTTGCAAGAT 0.438000 36 16 0 0 0.006122 0 0 OR5H6 79295 broad.mit.edu 37 3 97983179 97983179 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:97983179G>A uc003dsi.1 + 0 51 c.51G>A c.(49-51)atG>atA p.M17I NM_001005479 NP_001005479 Q8NGV6 OR5H6_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA. 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 GTGAGGAGATGGAAGAGGAAA 0.388000 74 11 0 0 0.008291 0 0 CHIT1 1118 broad.mit.edu 37 1 203186132 203186132 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:203186132G>A uc001gzn.2 - 10 1382 c.1286C>T c.(1285-1287)cCc>cTc p.P429L CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_Missense_Mutation_p.P191L|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Missense_Mutation_p.P420L NM_003465 NP_003456 Q13231 CHIT1_HUMAN Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA. 429 Chitin-binding type-2. chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 CCGAGGATTGGGATAGAGCCC 0.592000 OREG0014113 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 104 17 0 0 0.028581 0 0 STRA6 64220 broad.mit.edu 37 15 74481525 74481525 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr15:74481525C>T uc002axj.3 - 11 1498 c.1138G>A c.(1138-1140)Gga>Aga p.G380R STRA6_uc002axi.3_Missense_Mutation_p.G150R|STRA6_uc010ulh.2_Missense_Mutation_p.G379R|STRA6_uc002axk.3_Missense_Mutation_p.G341R|STRA6_uc002axl.3_Missense_Mutation_p.G273R|STRA6_uc010bji.3_Missense_Mutation_p.G341R|STRA6_uc021sqg.1_Missense_Mutation_p.G356R|STRA6_uc002axm.3_Missense_Mutation_p.G341R|STRA6_uc002axn.3_Missense_Mutation_p.G332R|STRA6_uc010uli.2_Missense_Mutation_p.G378R|STRA6_uc010bjj.1_Non-coding_Transcript NM_001199042 NP_001185971 Q9BX79 STRA6_HUMAN Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA. 341 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 AGCACGATTCCAAAGCCGGCC 0.642000 16 6 0 0 0.021553 0 0 RGPD4 285190 broad.mit.edu 37 2 108476251 108476251 + Missense_Mutation SNP G T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:108476251G>T uc010ywk.2 + 11 1790 c.1708G>T c.(1708-1710)Ggc>Tgc p.G570C RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA. 570 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 GGAAAAACATGGCCTTCAACC 0.323000 59 5 0.000157383 0.000162603 0.003080 1 0 SCP2 6342 broad.mit.edu 37 1 53420478 53420478 + Splice_Site SNP T A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:53420478T>A uc001cur.2 + 5 564 c.396_splice c.e5+2 p.K132_splice SCP2_uc010ono.2_Splice_Site_p.K51_splice|SCP2_uc010onp.2_Splice_Site_p.K108_splice|SCP2_uc009vzi.2_Splice_Site_p.K88_splice|SCP2_uc001cus.2_Splice_Site|SCP2_uc001cuq.2_Splice_Site_p.K88_splice NM_002979 NP_001180546 P22307 NLTP_HUMAN Homo sapiens sterol carrier protein 2 (SCP2), transcript variant 1, mRNA. 132 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport mitochondrion|nucleus|peroxisomal matrix propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 15 GGAATAAAAGTGAGTGTTATT 0.338000 60 10 0 0 0.010729 0 0 CXCR3 2833 broad.mit.edu 37 X 70836525 70836525 + Missense_Mutation SNP A C C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:70836525A>C uc022bys.1 - 0 938 c.938T>G c.(937-939)cTc>cGc p.L313R BCYRN1_uc011mpt.1_Intron|CXCR3_uc004eaf.3_Missense_Mutation_p.L266R|CXCR3_uc011mpx.2_Missense_Mutation_p.L313R NM_001142797 NP_001136269 P49682 CXCR3_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 3 (CXCR3), transcript variant 2, mRNA. 266 cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration cytoplasm|integral to plasma membrane C-X-C chemokine receptor activity breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2) 10 Renal(35;0.156) GGTCCAGCAGAGGGCAAAGGC 0.662000 26 3 0 0 0.009096 0 0 GABRB2 2561 broad.mit.edu 37 5 160758016 160758016 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:160758016G>A uc003lys.1 - 8 1169 c.951C>T c.(949-951)ttC>ttT p.F317F GABRB2_uc011deh.1_Silent_p.F156F|GABRB2_uc003lyr.1_Silent_p.F317F|GABRB2_uc003lyt.1_Silent_p.F317F|GABRB2_uc021yhg.1_Silent_p.F254F NM_021911 NP_068711 P47870 GBRB2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA. 317 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GAAGGGCCATGAAAACGAAGA 0.507000 89 9 0 0 0.008291 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5146391 5146391 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:5146391C>T uc003jdl.3 + 2 462 c.324C>T c.(322-324)ttC>ttT p.F108F ADAMTS16_uc003jdk.1_Silent_p.F108F|ADAMTS16_uc003jdj.1_Silent_p.F108F NM_139056 NP_620687 Q8TE57 ATS16_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA. 108 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GGCACGACTTCCACATGGATC 0.552000 39 11 0 0 0.008291 0 0 GJB2 2706 broad.mit.edu 37 13 20763697 20763697 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr13:20763697C>T uc001umy.3 - 1 239 c.24G>A c.(22-24)acG>acA p.T8T GJB2_uc021rha.1_Silent_p.T8T NM_004004 NP_003995 P29033 CXB2_HUMAN Homo sapiens gap junction protein, beta 2, 26kDa (GJB2), mRNA. 8 cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport ER-Golgi intermediate compartment|connexon complex|integral to membrane breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738) CCCCCAGGATCGTCTGCAGCG 0.512000 Keratitis, Ichthyosis and Deafness syndrome OREG0022282 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 52 13 0 0 0.020292 0 0 EPHA3 2042 broad.mit.edu 37 3 89176412 89176412 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:89176412C>T uc003dqy.3 + 1 367 c.142C>T c.(142-144)Cca>Tca p.P48S EPHA3_uc003dqx.1_Missense_Mutation_p.P48S|EPHA3_uc021xbf.1_Missense_Mutation_p.P48S NM_005233 NP_005224 P29320 EPHA3_HUMAN Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA. 48 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GATCTCTTATCCATCACATGG 0.338000 TSP Lung(6;0.00050) 53 13 0 0 0.028581 0 0 ZNF716 441234 broad.mit.edu 37 7 57522875 57522875 + Splice_Site SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:57522875G>A uc011kdi.1 + 3 374 c.262_splice c.e3+1 p.V88_splice NM_001159279 NP_001152751 Homo sapiens zinc finger protein 716 (ZNF716), mRNA. breast(1)|kidney(1)|lung(20)|ovary(2) 24 AAACACCCAGGTAGGTGAGAG 0.458000 66 15 0 0 0.024245 0 0 LONP1 9361 broad.mit.edu 37 19 5705925 5705925 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:5705925G>A uc002mcx.3 - 7 1258 c.1225C>T c.(1225-1227)Ctg>Ttg p.L409L LONP1_uc002mcy.3_Silent_p.L345L|LONP1_uc010duh.3_Silent_p.L150L|LONP1_uc010dui.3_Silent_p.L393L|LONP1_uc002mcz.3_Silent_p.L213L NM_004793 NP_004784 P36776 LONM_HUMAN Homo sapiens lon peptidase 1, mitochondrial (LONP1), nuclear gene encoding mitochondrial protein, mRNA. 409 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCCTTCTCCAGGCCCAGCTCC 0.577000 77 14 0 0 0.004990 0 0 COX7A2 1347 broad.mit.edu 37 6 75953460 75953460 + Silent SNP T C C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:75953460T>C uc003phv.2 - 0 185 c.87A>G c.(85-87)gtA>gtG p.V29V COX7A2_uc021zbx.1_Non-coding_Transcript NM_001865 NP_001856 P14406 CX7A2_HUMAN Homo sapiens cytochrome c oxidase subunit VIIa polypeptide 2 (liver) (COX7A2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 0 mitochondrial respiratory chain cytochrome-c oxidase activity|electron carrier activity kidney(2)|lung(1) 3 TCTTGGCTGTTACTGACCAGC 0.542000 69 16 0 0 0.006122 0 0 USP17L2 377630 broad.mit.edu 37 8 11995072 11995072 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:11995072C>T uc003wvc.1 - 0 1198 c.1198G>A c.(1198-1200)Gac>Aac p.D400N LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron NM_201402 NP_958804 Q6R6M4 U17L2_HUMAN Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA. 400 G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 GCTCGCCTGTCTGTGTCTTCA 0.567000 13 3 0 0 0.004672 0 0 SYNPO2 171024 broad.mit.edu 37 4 119948129 119948130 + Missense_Mutation DNP CC GT GT TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:119948129_119948130CC>GT uc010inb.3 + 2 801_802 c.605_606CC>GT c.(604-606)tcc>tGT p.S202C SYNPO2_uc010ina.3_Missense_Mutation_p.S202C|SYNPO2_uc003icm.4_Missense_Mutation_p.S202C|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.S130C NM_133477 NP_597734 Q9UMS6 SYNP2_HUMAN Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA. 202 Z disc|nucleus 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CTGCAACTGTCCCTTTCACAGG 0.540000 22 5 0 0 0.004672 0 0 TPTE 7179 broad.mit.edu 37 21 10942744 10942744 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr21:10942744C>T uc002yip.1 - 12 1065 c.697G>A c.(697-699)Gat>Aat p.D233N TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.D215N|TPTE_uc002yir.1_Missense_Mutation_p.D195N|TPTE_uc010gkv.1_Missense_Mutation_p.D95N NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 233 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.D215N(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCAAATCCATCCCTTGTGTAT 0.308000 293 20 0 0 0.021523 0 0 AP2B1 163 broad.mit.edu 37 17 33977562 33977562 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:33977562C>T uc002hjr.3 + 12 1739 c.1550C>T c.(1549-1551)cCt>cTt p.P517L AP2B1_uc002hjq.3_Missense_Mutation_p.P517L|AP2B1_uc010wci.2_Missense_Mutation_p.P479L|AP2B1_uc002hjs.3_Missense_Mutation_p.P460L|AP2B1_uc002hjt.3_Missense_Mutation_p.P517L|AP2B1_uc010ctv.3_Missense_Mutation_p.P517L|AP2B1_uc010wcj.2_Missense_Mutation_p.P254L NM_001282 NP_001273 P63010 AP2B1_HUMAN Homo sapiens adaptor-related protein complex 2, beta 1 subunit (AP2B1), transcript variant 2, mRNA. 517 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity p.P517R(2) NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) TCTGATAATCCTGACCTTCGA 0.443000 94 28 0 0 0.009535 0 0 MDGA1 266727 broad.mit.edu 37 6 37622290 37622290 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:37622290C>T uc003onu.1 - 5 1921 c.742G>A c.(742-744)Gaa>Aaa p.E248K MDGA1_uc003onw.3_5'Flank NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA. 248 Ig-like 3. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 ACCAGAGTTTCGTTCACAGAC 0.617000 94 25 0 0 0.027356 0 0 POTEA 340441 broad.mit.edu 37 8 43159852 43159852 + Missense_Mutation SNP T A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:43159852T>A uc003xpz.1 + 5 887 c.844T>A c.(844-846)Tta>Ata p.L282I POTEA_uc003xqa.1_Missense_Mutation_p.L236I NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA. 282 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AATTTGCCAATTACTTTCTGA 0.284000 20 8 0 0 0.003080 0 0 MYLK 4638 broad.mit.edu 37 3 123419849 123419849 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:123419849C>T uc003ego.3 - 17 2748 c.2466G>A c.(2464-2466)ggG>ggA p.G822G MYLK_uc011bjw.2_Silent_p.G822G|MYLK_uc003egp.3_Silent_p.G753G|MYLK_uc003egq.3_Silent_p.G822G|MYLK_uc003egr.3_Silent_p.G753G|MYLK_uc003egs.3_Silent_p.G646G|MYLK_uc003egt.3_Silent_p.G13G NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 822 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CAGGCTCCCTCCCCCTGCAAC 0.592000 24 5 0 0 0.021553 0 0 CNNM2 54805 broad.mit.edu 37 10 104809545 104809545 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:104809545C>T uc001kwm.3 + 1 1866 c.1703C>T c.(1702-1704)aCc>aTc p.T568I CNNM2_uc001kwn.3_Missense_Mutation_p.T568I NM_017649 NP_060119 Q9H8M5 CNNM2_HUMAN Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA. 568 CBS 2. T -> I (in HOMG6; reduced activity; electrophysiological analysis shows that magnesium-sensitive sodium currents are significantly diminished and are blocked by increased extracellular magnesium concentrations). ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) GGAATCGTCACCTTAGAAGAT 0.388000 61 6 0 0 0.021553 0 0 KIAA1549 57670 broad.mit.edu 37 7 138555961 138555961 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:138555961G>A uc011kql.2 - 12 4542 c.4493C>T c.(4492-4494)cCc>cTc p.P1498L KIAA1549_uc011kqi.2_Missense_Mutation_p.P282L|KIAA1549_uc011kqk.2_Missense_Mutation_p.P282L|KIAA1549_uc011kqj.2_Missense_Mutation_p.P1498L NM_001164665 NP_001158137 Q9HCM3 K1549_HUMAN Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA. 1498 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 GCGCTGGACGGGAGGTGCCGG 0.557000 O BRAF pilocytic astrocytoma 43 15 0 0 0.004990 0 0 PKD1L1 168507 broad.mit.edu 37 7 47874752 47874752 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:47874752G>A uc003tny.2 - 37 6067 c.6033C>T c.(6031-6033)tcC>tcT p.S2011S NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 2011 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 TGAAGAGCAGGGACAAGAGCT 0.607000 41 7 0 0 0.003080 0 0 CD163L1 283316 broad.mit.edu 37 12 7550931 7550931 + Nonsense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:7550931C>T uc010sge.2 - 6 1714 c.1688G>A c.(1687-1689)tGg>tAg p.W563* CD163L1_uc001qsy.3_Nonsense_Mutation_p.W553* NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 553 SRCR 5. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 TTCACAGTCCCAGATATTTGA 0.403000 64 9 0 0 0.006214 0 0 TMEM8C 389827 broad.mit.edu 37 9 136385350 136385350 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr9:136385350G>A uc011mdk.2 - 1 298 c.196C>T c.(196-198)Ctg>Ttg p.L66L NM_001080483 NP_001073952 A6NI61 TMM8C_HUMAN Homo sapiens transmembrane protein 8C (TMEM8C), mRNA. 66 integral to membrane NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4) 8 AAATACTCCAGGATGTCGTGA 0.587000 27 3 0 0 0.004672 0 0 HLA-E 3133 broad.mit.edu 37 6 30459126 30459126 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:30459126G>A uc011dmh.2 + 2 973 c.946G>A c.(946-948)Gag>Aag p.E316K HLA-E_uc011dmg.2_Non-coding_Transcript|HLA-E_uc003nqg.3_Missense_Mutation_p.E275K P13747 HLAE_HUMAN Homo sapiens major histocompatibility complex, class I, E (HLA-E), mRNA. 275 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway MHC class I protein complex|integral to membrane MHC class I receptor activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1) 18 TTCTGGAGAGGAGCAGAGATA 0.617000 62 11 0 0 0.008291 0 0 DNAH5 1767 broad.mit.edu 37 5 13824439 13824439 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:13824439G>A uc003jfd.2 - 38 6490 c.6448C>T c.(6448-6450)Cat>Tat p.H2150Y NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2150 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AAGTCATAATGAACCTAGAGA 0.388000 Kartagener syndrome 23 3 0 0 0.004672 0 0 DNAJC14 85406 broad.mit.edu 37 12 56215836 56215836 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:56215836C>T uc001shu.2 - 5 2090 c.2034G>A c.(2032-2034)aaG>aaA p.K678K DNAJC14_uc001shx.1_Silent_p.K678K|DNAJC14_uc009zob.1_Silent_p.K678K NM_032364 NP_115740 Q6Y2X3 DJC14_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 14 (DNAJC14), mRNA. 678 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1) 23 TGCTGTTGGGCTTAGAGGCTG 0.547000 60 16 0 0 0.006122 0 0 CUX1 1523 broad.mit.edu 37 7 101847737 101847737 + Missense_Mutation SNP A T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:101847737A>T uc003uys.4 + 18 3134 c.3007A>T c.(3007-3009)Acg>Tcg p.T1003S CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.T992S NM_001202543 NP_001189472 P39880 CUX1_HUMAN Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA. 992 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 GAGCAAGCTGACGCAGAAAGG 0.647000 79 22 0 0 0.014323 0 0 NANOG 79923 broad.mit.edu 37 12 7945552 7945552 + Missense_Mutation SNP C T T rs71445169 TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:7945552C>T uc009zfy.1 + 1 374 c.158C>T c.(157-159)cCt>cTt p.P53L NM_024865 NP_079141 Q9H9S0 NANOG_HUMAN Homo sapiens Nanog homeobox (NANOG), mRNA. 53 cell proliferation|embryo development|somatic stem cell maintenance nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Kidney(36;0.0872) ACAGTCTCTCCTCTTCCTTCC 0.363000 75 8 0 0 0.004482 0 0 ZNF641 121274 broad.mit.edu 37 12 48739160 48739160 + Missense_Mutation SNP A C C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:48739160A>C uc001rrn.2 - 4 678 c.416T>G c.(415-417)aTg>aGg p.M139R ZNF641_uc001rro.2_Missense_Mutation_p.M125R|ZNF641_uc010sls.2_Intron NM_152320 NP_001166152 Q96N77 ZN641_HUMAN Homo sapiens zinc finger protein 641 (ZNF641), transcript variant 1, mRNA. 139 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 12 GTTTTCCTGCATGACATATTC 0.527000 51 17 0 0 0.006122 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138638 126138638 + Silent SNP C A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:126138638C>A uc001uhe.1 + 8 2627 c.2619C>A c.(2617-2619)ccC>ccA p.P873P TMEM132B_uc001uhf.1_Silent_p.P385P NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 873 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CAAGCTTCCCCACTCAAGGGA 0.507000 21 9 7.48243e-07 7.79019e-07 0.006214 1 0 ORM1 5004 broad.mit.edu 37 9 117086343 117086343 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr9:117086343G>A uc004bik.4 + 2 414 c.303G>A c.(301-303)cgG>cgA p.R101R ORM1_uc011lxo.2_Silent_p.R101R NM_000607 NP_000598 P02763 A1AG1_HUMAN Homo sapiens orosomucoid 1 (ORM1), mRNA. 101 acute-phase response|regulation of immune system process|transport extracellular space protein binding endometrium(2)|large_intestine(4)|lung(2) 8 Myeloproliferative disorder(63;0.163) Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706) ATGTCCAGCGGGAAAATGGGA 0.537000 54 10 0 0 0.006214 0 0 IGSF1 3547 broad.mit.edu 37 X 130410995 130410995 + Silent SNP A C C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:130410995A>C uc004ewe.4 - 13 2824 c.2541T>G c.(2539-2541)ggT>ggG p.G847G IGSF1_uc004ewd.3_Silent_p.G842G|IGSF1_uc022cdv.1_Silent_p.G833G|IGSF1_uc004ewf.2_Silent_p.G822G NM_001170961 NP_001164432 Q8N6C5 IGSF1_HUMAN Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA. 842 Ig-like C2-type 8. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 TCCCTCCATCACCAATGCCCA 0.522000 237 37 0 0 0.023175 0 0 BRD8 10902 broad.mit.edu 37 5 137502286 137502286 + Silent SNP T C C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:137502286T>C uc003lcf.1 - 9 973 c.918A>G c.(916-918)caA>caG p.Q306Q BRD8_uc011cyl.2_Silent_p.Q85Q|BRD8_uc021yea.1_Silent_p.Q196Q|BRD8_uc003lcg.3_Silent_p.Q379Q|BRD8_uc003lci.3_Intron|BRD8_uc011cym.2_Silent_p.Q290Q|BRD8_uc011cyn.1_Silent_p.Q265Q NM_139199 NP_631938 Q9H0E9 BRD8_HUMAN Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA. 306 Q -> H (in Ref. 6; AAB87858). cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter NuA4 histone acetyltransferase complex|mitochondrion sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CAATGGTAGCTTGGGACACAG 0.557000 28 7 0 0 0.004482 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47611060 47611060 + Missense_Mutation SNP G A A rs149644732 TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr20:47611060G>A uc002xtx.4 + 21 3198 c.3046G>A c.(3046-3048)Gga>Aga p.G1016R ARFGEF2_uc010zyf.2_Missense_Mutation_p.G309R NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA. 1016 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction Golgi membrane|cytosol ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) CTACCTGTCTGGATCTGGGCG 0.537000 41 10 0 0 0.008291 0 0 ACSL6 23305 broad.mit.edu 37 5 131303644 131303644 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:131303644C>T uc003kvx.2 - 15 1694 c.1585G>A c.(1585-1587)Gga>Aga p.G529R ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Missense_Mutation_p.G494R|ACSL6_uc003kvy.2_Missense_Mutation_p.G529R|ACSL6_uc003kvz.2_Missense_Mutation_p.G429R|ACSL6_uc021ydh.1_Missense_Mutation_p.G429R|ACSL6_uc010jdo.2_Missense_Mutation_p.G504R|ACSL6_uc003kwa.2_Missense_Mutation_p.G515R|ACSL6_uc003kvw.2_Missense_Mutation_p.G150R|ACSL6_uc010jdn.2_Missense_Mutation_p.G519R NM_015256 NP_001192177 Q9UKU0 ACSL6_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA. 504 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCTCCCTCTCCTTTGCAGGCC 0.488000 110 7 0 0 0.003080 0 0 LOC100233156 100233156 broad.mit.edu 37 GL000218.1 39976 39976 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrGL000218.1:39976G>A uc011mfn.2 - 3 430 c.341C>T c.(340-342)gCc>gTc p.A114V LOC100233156_uc003jah.2_Missense_Mutation_p.A114V Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA. GTCCTTGATGGCCTCCTTCAG 0.617000 8 6 0 0 0.001984 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173659880 173659880 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:173659880G>A uc002uhv.4 + 1 380 c.193G>A c.(193-195)Gaa>Aaa p.E65K RAPGEF4_uc002uhu.2_Missense_Mutation_p.E65K|RAPGEF4_uc010fqn.3_Missense_Mutation_p.E48K NM_007023 NP_008954 Q8WZA2 RPGF4_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA. 65 G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) TGAGAATCTGGAAAAGGGAAT 0.328000 102 18 0 0 0.010504 0 0 FEZF1 389549 broad.mit.edu 37 7 121943282 121943282 + Silent SNP T C C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:121943282T>C uc003vkd.3 - 1 959 c.885A>G c.(883-885)aaA>aaG p.K295K FEZF1_uc003vkc.3_Silent_p.K245K|LOC154860_uc010lko.2_5'Flank NM_001024613 NP_001019784 A0PJY2 FEZF1_HUMAN Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA. 295 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1) 25 GCCTGAAACCTTTTCCGCACA 0.468000 114 4 0 0 0.009096 0 0 PSG8 440533 broad.mit.edu 37 19 43268068 43268068 + Splice_Site SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:43268068G>A uc002ouo.2 - 2 528 c.430_splice c.e2+1 p.L144_splice PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Splice_Site_p.L144_splice|PSG8_uc010ein.3_Intron|PSG3_uc002oun.3_Intron NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA. 144 Ig-like V-type. extracellular region p.L144L(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) AATCACTCACGATATAAGGTG 0.498000 169 29 0 0 0.017118 0 0 ARR3 407 broad.mit.edu 37 X 69489979 69489979 + Missense_Mutation SNP T A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:69489979T>A uc004dyb.2 + 4 198 c.130T>A c.(130-132)Tta>Ata p.L44I ARR3_uc004dya.3_Missense_Mutation_p.L44I NM_004312 NP_004303 P36575 ARRC_HUMAN Homo sapiens arrestin 3, retinal (X-arrestin) (ARR3), mRNA. 44 L -> F (in dbSNP:rs17855428). signal transduction|visual perception cytoplasm|soluble fraction endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1) 16 TCCTGAGTACTTAAAATGTCG 0.438000 62 9 0 0 0.006214 0 0 SMPD3 55512 broad.mit.edu 37 16 68405331 68405331 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr16:68405331C>T uc002ewa.3 - 2 1176 c.754G>A c.(754-756)Ggc>Agc p.G252S SMPD3_uc010cfe.3_Missense_Mutation_p.G252S|SMPD3_uc010vlh.2_Missense_Mutation_p.G252S NM_018667 NP_061137 Q9NY59 NSMA2_HUMAN Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA. 252 cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) GGCCGGCCGCCCTCCTCGCCA 0.711000 20 4 0 0 0.009096 0 0 GLYATL2 219970 broad.mit.edu 37 11 58605793 58605793 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr11:58605793C>T uc001nnd.4 - 2 258 c.127G>A c.(127-129)Gag>Aag p.E43K GLYATL2_uc009ymq.3_Missense_Mutation_p.E43K NM_145016 NP_659453 Q8WU03 GLYL2_HUMAN Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA. 43 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) ACCAGCACCTCCATGTTGAAA 0.443000 38 8 0 0 0.004482 0 0 OR5H14 403273 broad.mit.edu 37 3 97868537 97868537 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:97868537C>T uc003dsg.1 + 0 308 c.308C>T c.(307-309)tCg>tTg p.S103L NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA. 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S103L(2)|p.S103S(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 CAGTTGTTTTCGTTTGCAATC 0.393000 100 28 0 0 0.008361 0 0 RGL4 266747 broad.mit.edu 37 22 24035163 24035163 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr22:24035163G>A uc002zxo.3 + 2 1938 c.681G>A c.(679-681)ctG>ctA p.L227L GUSBP11_uc002zxh.4_Non-coding_Transcript|GUSBP11_uc002zxi.4_Non-coding_Transcript|GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Silent_p.L227L|RGL4_uc002zxp.1_Silent_p.L91L|RGL4_uc002zxq.3_Silent_p.L91L Q8IZJ4 RGDSR_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA. 227 Ras-GEF. small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3) 15 CAGAGCAGCTGACCCTCATGG 0.612000 18 9 0 0 0.006214 0 0 PKP2 5318 broad.mit.edu 37 12 33003895 33003895 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:33003895G>A uc001rlj.4 - 4 1298 c.1183C>T c.(1183-1185)Cgt>Tgt p.R395C PKP2_uc001rlk.4_Missense_Mutation_p.R395C|PKP2_uc010skj.2_Missense_Mutation_p.R395C NM_004572 NP_004563 Q99959 PKP2_HUMAN Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA. 395 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) AGGATGCCACGAAGCTGGTTA 0.408000 36 16 0 0 0.024245 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26885410 26885410 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:26885410C>T uc001bmr.1 + 13 1360 c.1197C>T c.(1195-1197)ccC>ccT p.P399P RPS6KA1_uc010ofe.1_Silent_p.P307P|RPS6KA1_uc010off.1_Silent_p.P383P|RPS6KA1_uc001bms.1_Silent_p.P408P|RPS6KA1_uc009vsl.1_Silent_p.P242P NM_002953 NP_002944 Q15418 KS6A1_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA. 399 MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) CGCAGGCACCCCTGCACTCGG 0.632000 35 16 0 0 0.006122 0 0 TSPYL6 388951 broad.mit.edu 37 2 54483115 54483115 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:54483115C>T uc002rxr.2 - 0 295 c.174G>A c.(172-174)ggG>ggA p.G58G ACYP2_uc002rxq.4_Intron NM_001003937 NP_001003937 Q8N831 TSYL6_HUMAN Homo sapiens TSPY-like 6 (TSPYL6), mRNA. 58 nucleosome assembly nucleus NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2) 20 GGGGCGCGACCCCCTCCTCTG 0.602000 120 10 0 0 0.016723 0 0 ZNF229 7772 broad.mit.edu 37 19 44932791 44932791 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:44932791C>T uc002oze.1 - 5 2599 c.2165G>A c.(2164-2166)aGa>aAa p.R722K ZNF229_uc010ejk.1_Missense_Mutation_p.R376K|ZNF229_uc010ejl.1_Missense_Mutation_p.R716K NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN Homo sapiens zinc finger protein 229 (ZNF229), mRNA. 722 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) TGAGCCATATCTGAAACCCTT 0.498000 41 12 0 0 0.010729 0 0 FRG2B 441581 broad.mit.edu 37 10 135440242 135440242 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:135440242C>T uc010qvg.2 - 0 58 c.5G>A c.(4-6)gGa>gAa p.G2E NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA. 2 nucleus p.M1I(1) endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) ATTTCCCTTTCCCATGTTGAA 0.532000 142 10 0 0 0.016723 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531943 140531943 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:140531943C>T uc003lir.3 + 0 2105 c.2105C>T c.(2104-2106)tCg>tTg p.S702L NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN Homo sapiens protocadherin beta 6 (PCDHB6), mRNA. 702 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.S702L(2)|p.S702A(1) cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCCTCTTTTCGGTGCTCCTG 0.687000 116 31 0 0 0.017118 0 0 NUMB 8650 broad.mit.edu 37 14 73783103 73783103 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr14:73783103C>T uc001xny.1 - 5 549 c.229G>A c.(229-231)Gga>Aga p.G77R NUMB_uc010aro.1_Missense_Mutation_p.G77R|NUMB_uc010arp.1_Intron|NUMB_uc010arq.1_Missense_Mutation_p.G77R|NUMB_uc010arr.1_Intron|NUMB_uc001xoa.1_Missense_Mutation_p.G77R|NUMB_uc001xnz.1_Intron|NUMB_uc001xob.1_Intron|NUMB_uc001xod.1_Missense_Mutation_p.G77R|NUMB_uc001xoc.1_Missense_Mutation_p.G77R|NUMB_uc010ars.1_Intron|NUMB_uc001xof.1_Intron|NUMB_uc001xog.3_Intron|NUMB_uc001xoh.1_Intron NM_001005743 NP_001005743 P49757 NUMB_HUMAN Homo sapiens numb homolog (Drosophila) (NUMB), transcript variant 1, mRNA. 77 PID. axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis integral to plasma membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161) CTTACTTTTCCAAAGAAGCCT 0.403000 40 6 0 0 0.004482 0 0 RBM47 54502 broad.mit.edu 37 4 40440415 40440415 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:40440415C>T uc003gvc.2 - 3 1206 c.496G>A c.(496-498)Gaa>Aaa p.E166K RBM47_uc003gvd.2_Missense_Mutation_p.E166K|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.E128K|RBM47_uc003gvg.1_Missense_Mutation_p.E166K NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA. 166 RRM 2. nucleus RNA binding|nucleotide binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 TCCAGGATTTCCTCGCGCTTC 0.637000 45 16 0 0 0.028581 0 0 LAMA4 3910 broad.mit.edu 37 6 112440433 112440433 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:112440433C>T uc003pvu.2 - 33 5056 c.4747G>A c.(4747-4749)Gaa>Aaa p.E1583K LAMA4_uc003pvv.2_Missense_Mutation_p.E1576K|LAMA4_uc003pvt.2_Missense_Mutation_p.E1576K NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA. 1583 Laminin G-like 4. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CAGGTAGCTTCAGTAGGAGGA 0.478000 63 18 0 0 0.008871 0 0 VHL 7428 broad.mit.edu 37 3 10191497 10191497 + Nonsense_Mutation SNP C T T rs5030819 TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:10191497C>T uc003bvc.3 + 2 703 c.490C>T c.(490-492)Cag>Tag p.Q164* VHL_uc003bvd.3_Nonsense_Mutation_p.Q123* NM_000551 NP_000542 P40337 VHL_HUMAN Homo sapiens von Hippel-Lindau tumor suppressor (VHL), transcript variant 1, mRNA. 164 Interaction with Elongin BC complex. Q -> H (in VHLD).|Q -> R (in VHLD; type II). anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus protein binding|transcription factor binding p.Q164*(8)|p.L163P(4)|p.L163fs*7(3)|p.Q164P(3)|p.Q164H(3)|p.Q164fs*9(2)|p.Q164fs*10(2)|p.Q164R(1)|p.L158fs*6(1)|p.L163H(1)|p.Q164L(1) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) GCGATGCCTCCAGGTTGTCCG 0.502000 1 """D, Mis, N, F, S""" """renal, hemangioma, pheochromocytoma""" """renal, hemangioma, pheochromocytoma""" von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia 28 3 0 0 0.009096 0 0 AHNAK2 113146 broad.mit.edu 37 14 105414195 105414195 + Silent SNP G C C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr14:105414195G>C uc010axc.1 - 6 7713 c.7593C>G c.(7591-7593)ctC>ctG p.L2531L AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.L2431L NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 2531 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) GCTGAATGCTGAGGTCAGTGG 0.667000 136 4 0 0 0.013537 0 0 DNER 92737 broad.mit.edu 37 2 230231745 230231745 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:230231745G>A uc002vpv.3 - 11 2093 c.1946C>T c.(1945-1947)gCc>gTc p.A649V NM_139072 NP_620711 Q8NFT8 DNER_HUMAN Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA. 649 Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) AAGGATGAAGGCCACGCAGAG 0.557000 19 8 0 0 0.003080 0 0 TMC5 79838 broad.mit.edu 37 16 19485449 19485449 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr16:19485449C>T uc002dgc.4 + 11 2690 c.1941C>T c.(1939-1941)ttC>ttT p.F647F TMC5_uc010vaq.2_Silent_p.F595F|TMC5_uc002dgb.4_Silent_p.F647F|TMC5_uc010var.2_Silent_p.F647F|TMC5_uc002dgd.1_Silent_p.F401F|TMC5_uc002dge.4_Silent_p.F401F|TMC5_uc002dgf.4_Silent_p.F330F|TMC5_uc002dgg.4_Silent_p.F288F NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 647 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CCCTGCAGTTCCTGAAGACAC 0.522000 106 25 0 0 0.009535 0 0 HPS3 84343 broad.mit.edu 37 3 148858186 148858186 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:148858186G>A uc003ewu.1 + 1 753 c.613G>A c.(613-615)Gaa>Aaa p.E205K HPS3_uc011bnq.1_Intron|HPS3_uc021xfk.1_Missense_Mutation_p.E98K NM_032383 NP_115759 Q969F9 HPS3_HUMAN Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA. 205 cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GTCAGACTTAGAAGTCTTAAT 0.383000 Hermansky-Pudlak syndrome 47 13 0 0 0.016723 0 0 SPOCD1 90853 broad.mit.edu 37 1 32265660 32265660 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:32265660G>A uc001bts.1 - 4 1743 c.1685C>T c.(1684-1686)tCc>tTc p.S562F SPOCD1_uc001btu.3_Missense_Mutation_p.S562F|SPOCD1_uc001btv.3_Missense_Mutation_p.S55F|SPOCD1_uc021oks.1_5'Flank|SPOCD1_uc001btw.1_5'Flank NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA. 562 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) AAGGGCCAGGGAACCGCTTCT 0.632000 38 7 0 0 0.001984 0 0 KIF15 56992 broad.mit.edu 37 3 44852400 44852400 + Silent SNP T C C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:44852400T>C uc003cnx.4 + 16 2183 c.2034T>C c.(2032-2034)ccT>ccC p.P678P KIF15_uc010hiq.3_Silent_p.P581P|KIF15_uc003cny.1_Silent_p.P313P NM_020242 NP_064627 Q9NS87 KIF15_HUMAN Homo sapiens kinesin family member 15 (KIF15), mRNA. 678 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) AATTAAGCCCTGAAATGGGAA 0.373000 41 3 0 0 0.004672 0 0 JUP 3728 broad.mit.edu 37 17 39921203 39921203 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:39921203G>A uc002hxq.2 - 5 1303 c.1026C>T c.(1024-1026)ccC>ccT p.P342P JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Silent_p.P342P|JUP_uc002hxs.2_Silent_p.P342P NM_021991 NP_068831 P14923 PLAK_HUMAN Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA. 342 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) GCTTATTGCTGGGACACACGG 0.592000 80 25 0 0 0.024334 0 0 MST1P2 11209 broad.mit.edu 37 1 16974686 16974686 + RNA SNP G T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:16974686G>T uc010och.2 + 6 c.1146G>T MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA. ACGACGTGCGGCCCCAGGGTG 0.711000 39 6 0.000274275 0.00028265 0.004482 1 0 SAGE1 55511 broad.mit.edu 37 X 134987465 134987465 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:134987465G>A uc004ezh.3 + 4 535 c.368G>A c.(367-369)cGa>cAa p.R123Q SAGE1_uc010nry.1_Missense_Mutation_p.R92Q|SAGE1_uc011mvv.2_Missense_Mutation_p.R123Q NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN Homo sapiens sarcoma antigen 1 (SAGE1), mRNA. 123 p.R123R(1) breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) GGCCAATCTCGAACTGACAAA 0.468000 55 8 0 0 0.003080 0 0 TAF4B 6875 broad.mit.edu 37 18 23873455 23873455 + Nonsense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr18:23873455C>T uc002kvt.4 + 8 2296 c.1807C>T c.(1807-1809)Cag>Tag p.Q603* TAF4B_uc002kvu.4_Nonsense_Mutation_p.Q598*|TAF4B_uc002kvs.4_Non-coding_Transcript NM_005640 NP_005631 Q92750 TAF4B_HUMAN Homo sapiens TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa (TAF4B), mRNA. 598 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) ATCTCCTACTCAGAAAAATAG 0.274000 19 4 0 0 0.014758 0 0 COL4A5 1287 broad.mit.edu 37 X 107939566 107939566 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:107939566G>A uc022ccg.1 + 52 5236 c.5034G>A c.(5032-5034)agG>agA p.R1678R COL4A5_uc004enz.1_Silent_p.R1672R NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 1672 Collagen IV NC1. C -> W (in APSX).|Missing (in APSX). axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GAGACTTGAGGACACGAATTA 0.338000 Alport syndrome with Diffuse Leiomyomatosis 53 5 0 0 0.021553 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174235 150174235 + Silent SNP G T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:150174235G>T uc003whj.3 + 4 1695 c.1365G>T c.(1363-1365)ggG>ggT p.G455G NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA. 455 Golgi apparatus|endoplasmic reticulum|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GTGCGACCGGGAACTCTATCC 0.592000 66 11 2.80697e-09 2.96048e-09 0.010729 1 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A G G rs60608267 by1000genomes TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:132547093A>G uc001ujn.3 + 46 8333 c.8181A>G c.(8179-8181)caA>caG p.Q2727Q EP400_uc021rgq.1_Silent_p.Q2726Q|EP400_uc001ujm.3_Silent_p.Q2646Q|EP400_uc001ujp.3_5'UTR NM_015409 NP_056224 Q96L91 EP400_HUMAN Homo sapiens E1A binding protein p400 (EP400), mRNA. 2763 Interaction with ZNF42 (By similarity). histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(18) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 36 3 0 0 0.004672 0 0 GNA14 9630 broad.mit.edu 37 9 80144101 80144101 + Missense_Mutation SNP C T T rs148544176 TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr9:80144101C>T uc004aku.3 - 1 716 c.193G>A c.(193-195)Gac>Aac p.D65N NM_004297 NP_004288 O95837 GNA14_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha 14 (GNA14), mRNA. 65 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 24 CTGTCTTCGTCGCTGTAACCA 0.448000 206 25 0 0 0.007291 0 0 RPL39L 116832 broad.mit.edu 37 3 186839028 186839028 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:186839028G>A uc003fre.1 - 2 416 c.61C>T c.(61-63)Cgt>Tgt p.R21C RPL39L_uc021xim.1_Missense_Mutation_p.R21C NM_052969 NP_443201 Q96EH5 RL39L_HUMAN Homo sapiens ribosomal protein L39-like (RPL39L), mRNA. 21 spermatogenesis|translation cytosolic large ribosomal subunit structural constituent of ribosome all_cancers(143;2.61e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.87e-18) GBM - Glioblastoma multiforme(93;0.0745) GGGATGGGACGATTTTGCTTT 0.458000 74 7 0 0 0.001984 0 0 EPN3 55040 broad.mit.edu 37 17 48617661 48617661 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:48617661C>T uc010wms.2 + 5 1217 c.1029C>T c.(1027-1029)tcC>tcT p.S343S SPATA20_uc002irc.3_5'Flank|EPN3_uc002ira.4_Silent_p.S315S|EPN3_uc010wmt.2_Intron|EPN3_uc010wmu.2_Silent_p.S288S Q9H201 EPN3_HUMAN Homo sapiens epsin 3 (EPN3), mRNA. 315 5 X 3 AA repeats of [DE]-P-W. clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;2.88e-09) CCCCGCCCTCCACACACTGCT 0.657000 35 5 0 0 0.001984 0 0 AK098438 0 broad.mit.edu 37 1 21752758 21752758 + RNA SNP T A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:21752758T>A uc001bep.1 - 2 c.218A>T Homo sapiens cDNA FLJ25572 fis, clone JTH05111. CAACGTGTTCTTCCTCCAATG 0.453000 86 9 0 0 0.006214 0 0 CD163L1 283316 broad.mit.edu 37 12 7510023 7510023 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:7510023G>A uc010sge.2 - 18 4395 c.4369C>T c.(4369-4371)Cct>Tct p.P1457S CD163L1_uc001qsy.3_Missense_Mutation_p.P1447S NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 1447 extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 TCAGAGGCAGGAAGAACTCCC 0.413000 53 7 0 0 0.006214 0 0 ZNF735 730291 broad.mit.edu 37 7 63673514 63673514 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:63673514G>A uc011kdn.2 + 1 84 c.84G>A c.(82-84)gcG>gcA p.A28A NM_001159524 NP_001152996 P0CB33 ZN735_HUMAN Homo sapiens zinc finger protein 735 (ZNF735), mRNA. 28 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding TCTCTCTGGCGGAGTGGCAAT 0.413000 16 6 0 0 0.021553 0 0 LPAR1 1902 broad.mit.edu 37 9 113704021 113704021 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr9:113704021C>T uc011lwo.2 - 1 478 c.476G>A c.(475-477)cGg>cAg p.R159Q LPAR1_uc004bfa.3_Missense_Mutation_p.R158Q|LPAR1_uc011lwm.2_Missense_Mutation_p.R159Q|LPAR1_uc004bfc.3_Missense_Mutation_p.R158Q|LPAR1_uc011lwn.2_Missense_Mutation_p.R140Q|LPAR1_uc004bfb.3_Missense_Mutation_p.R158Q|LPAR1_uc010mub.3_Missense_Mutation_p.R158Q NM_057159 NP_476500 Q92633 LPAR1_HUMAN Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA. 158 positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane p.R158W(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1) 21 GTTGCTCATCCGTGTGTGGAG 0.542000 45 7 0 0 0.001984 0 0 PAH 5053 broad.mit.edu 37 12 103248959 103248959 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:103248959C>T uc001tjq.1 - 5 1134 c.661G>A c.(661-663)Gaa>Aaa p.E221K PAH_uc010swc.1_Missense_Mutation_p.E221K NM_000277 NP_000268 P00439 PH4H_HUMAN Homo sapiens phenylalanine hydroxylase (PAH), mRNA. 221 E -> G (in PKU; haplotype 4). L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) ATGTTATCTTCATGGAAGCCA 0.463000 27 6 0 0 0.001984 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803196 185803196 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:185803196G>A uc002uph.3 + 3 3667 c.3073G>A c.(3073-3075)Gct>Act p.A1025T NM_194250 NP_919226 Q7Z570 Z804A_HUMAN Homo sapiens zinc finger protein 804A (ZNF804A), mRNA. 1025 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GCAAATCCTGGCTCCATTAGC 0.418000 53 6 0 0 0.021553 0 0 LPA 4018 broad.mit.edu 37 6 161007619 161007619 + Missense_Mutation SNP G A A rs147936725 by1000genomes TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:161007619G>A uc003qtl.3 - 25 4111 c.3991C>T c.(3991-3993)Cgc>Tgc p.R1331C NM_005577 NP_005568 P08519 APOA_HUMAN Homo sapiens lipoprotein, Lp(a) (LPA), mRNA. 3839 Kringle 12. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CACCAAGGGCGAATCTCAGCA 0.498000 30 17 0 0 0.004990 0 0 TCP10L2 401285 broad.mit.edu 37 6 167585680 167585680 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:167585680C>T uc010kkp.3 + 1 179 c.48C>T c.(46-48)caC>caT p.H16H NM_001145121 NP_001138593 B9ZVM9 B9ZVM9_HUMAN Homo sapiens t-complex 10-like 2 (mouse) (TCP10L2), mRNA. 16 endometrium(1)|kidney(2)|lung(3) 6 AGGGCACCCACCCAGAGGACC 0.667000 9 5 0 0 0.014758 0 0 PCNX 22990 broad.mit.edu 37 14 71575607 71575607 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr14:71575607C>T uc001xmo.2 + 33 7034 c.6588C>T c.(6586-6588)tcC>tcT p.S2196S PCNX_uc010are.1_Silent_p.S2085S|PCNX_uc010arf.1_Silent_p.S984S|PCNX_uc001xmp.2_Silent_p.S280S NM_014982 NP_055797 Q96RV3 PCX1_HUMAN Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA. 2196 Ser-rich. integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CCAGCAGCTCCAGCCAAAGCA 0.592000 38 13 0 0 0.016723 0 0 PLA2R1 22925 broad.mit.edu 37 2 160798661 160798661 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:160798661G>A uc002ube.2 - 28 4366 c.4154C>T c.(4153-4155)aCt>aTt p.T1385I PLA2R1_uc010zcp.2_Missense_Mutation_p.T1383I NM_007366 NP_031392 Q13018 PLA2R_HUMAN Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA. 1385 endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CGCCTCTGCAGTGTGAATATC 0.318000 35 7 0 0 0.006214 0 0 HM13 81502 broad.mit.edu 37 20 30132785 30132785 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr20:30132785C>T uc002wwc.3 + 3 515 c.401C>T c.(400-402)cCa>cTa p.P134L HM13_uc002wwd.3_Missense_Mutation_p.P134L|HM13_uc002wwe.3_Missense_Mutation_p.P134L|HM13_uc002wwf.3_5'Flank|HM13_uc010gdt.3_5'Flank NM_178581 NP_848696 Q8TCT9 HM13_HUMAN Homo sapiens histocompatibility (minor) 13 (HM13), transcript variant 3, mRNA. 134 membrane protein proteolysis cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane aspartic-type endopeptidase activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264) GCCAGCTTTCCAAATCGACAG 0.512000 51 8 0 0 0.003080 0 0 RASAL1 8437 broad.mit.edu 37 12 113553569 113553569 + Silent SNP A G G TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:113553569A>G uc001tun.2 - 10 1175 c.874T>C c.(874-876)Ttg>Ctg p.L292L RASAL1_uc010syp.2_Silent_p.L292L|RASAL1_uc001tul.3_Silent_p.L292L|RASAL1_uc001tum.2_Silent_p.L292L|RASAL1_uc010syq.2_Silent_p.L292L|RASAL1_uc001tuo.4_Silent_p.L292L|RASAL1_uc010syr.2_Silent_p.L292L NM_001193520 NP_001180449 O95294 RASL1_HUMAN Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA. 292 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|metal ion binding|phospholipid binding 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 TCTTCCAGCAAAGCCAAGGGG 0.627000 35 12 0 0 0.028581 0 0 FAM129A 116496 broad.mit.edu 37 1 184777223 184777223 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:184777223C>T uc001gra.3 - 9 1514 c.1320G>A c.(1318-1320)caG>caA p.Q440Q FAM129A_uc001grb.1_Silent_p.Q203Q|FAM129A_uc009wyh.1_Silent_p.Q268Q|FAM129A_uc009wyi.1_Silent_p.Q238Q NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA. 440 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 GCATGTAGTTCTGTGTCCTCT 0.537000 126 29 0 0 0.010818 0 0 DCHS2 54798 broad.mit.edu 37 4 155157594 155157594 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:155157594G>A uc003inw.2 - 24 6845 c.6845C>T c.(6844-6846)aCc>aTc p.T2282I NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA. 2282 Cadherin 20. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GACAGTTAAGGTGAATTTTGT 0.353000 37 8 0 0 0.003080 0 0 RNF8 9025 broad.mit.edu 37 6 37336896 37336896 + Nonsense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:37336896C>T uc003onq.4 + 2 1070 c.877C>T c.(877-879)Cag>Tag p.Q293* RNF8_uc003onr.4_Nonsense_Mutation_p.Q293*|RNF8_uc011dtx.2_Nonsense_Mutation_p.Q225* NM_003958 NP_003949 O76064 RNF8_HUMAN Homo sapiens ring finger protein 8 (RNF8), transcript variant 1, mRNA. 293 Gln-rich. cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 13 GCAGGAACTTCAGGACTTACA 0.468000 38 9 0 0 0.006214 0 0 ANK3 288 broad.mit.edu 37 10 61835986 61835986 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:61835986G>A uc001jky.3 - 36 4991 c.4653C>T c.(4651-4653)tcC>tcT p.S1551S ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 1551 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CGCCTAATGTGGATTTGATTG 0.423000 69 24 0 0 0.006320 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19419972 19419972 + RNA SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr13:19419972G>A uc010tcj.1 - 0 c.26138C>T Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. AAATTCATTGGTTTAGTTCAA 0.303000 76 4 0 0 0.014758 0 0 VCAN 1462 broad.mit.edu 37 5 82815321 82815321 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:82815321G>A uc003kii.3 + 6 1552 c.1196G>A c.(1195-1197)gGa>gAa p.G399E VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.G399E|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN Homo sapiens versican (VCAN), transcript variant 1, mRNA. 399 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CCTCCCGTGGGAAATATTGTC 0.423000 99 7 0 0 0.001984 0 0 NEB 4703 broad.mit.edu 37 2 152512945 152512945 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:152512945C>T uc021vrb.1 - 46 6246 c.6217G>A c.(6217-6219)Ggg>Agg p.G2073R NEB_uc002txu.3_Missense_Mutation_p.G2073R|NEB_uc021vrc.1_Missense_Mutation_p.G2073R|NEB_uc010fnx.3_Missense_Mutation_p.G2073R|NEB_uc021vrd.1_Missense_Mutation_p.G2073R NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 2073 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ACCATTTTCCCCTTCCCTTTT 0.368000 73 11 0 0 0.013537 0 0 CHL1 10752 broad.mit.edu 37 3 431047 431047 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:431047G>A uc003bot.3 + 19 3002 c.2360G>A c.(2359-2361)cGg>cAg p.R787Q CHL1_uc003bou.3_Missense_Mutation_p.R771Q|CHL1_uc003bow.2_Missense_Mutation_p.R771Q|CHL1_uc011asi.2_Missense_Mutation_p.R787Q NM_006614 NP_006605 O00533 CHL1_HUMAN Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA. 771 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix p.L786L(1) NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CACACATTGCGGGTGATGACG 0.527000 45 21 0 0 0.027356 0 0 PNMAL2 57469 broad.mit.edu 37 19 46997520 46997520 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:46997520G>A uc002pes.2 - 0 1650 c.1203C>T c.(1201-1203)gtC>gtT p.V401V LOC100506012_uc021uwg.1_Intron|BC132841_uc002peu.1_5'Flank NM_020709 NP_065760 Q9ULN7 PNML2_HUMAN Homo sapiens PNMA-like 2 (PNMAL2), mRNA. 401 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4) 8 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) CCTTGCGCAGGACCACGGCGT 0.677000 23 6 0 0 0.021553 0 0 SORBS1 10580 broad.mit.edu 37 10 97097017 97097017 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:97097017G>A uc001kkp.3 - 27 2945 c.2900C>T c.(2899-2901)cCc>cTc p.P967L SORBS1_uc001kkk.3_Intron|SORBS1_uc001kkl.3_Intron|SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Intron|SORBS1_uc001kko.3_Intron|SORBS1_uc001kkq.3_Intron|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Intron|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.P921L|SORBS1_uc010qoe.2_Intron NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA. 967 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens SH3/SH2 adaptor activity|actin binding|insulin receptor binding NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) CAGAGATGAGGGGGCTGGCGT 0.532000 15 3 0 0 0.004672 0 0 ZBED2 79413 broad.mit.edu 37 3 111312580 111312580 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:111312580C>T uc003dxy.3 - 1 1370 c.469G>A c.(469-471)Gaa>Aaa p.E157K CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.E157K NM_024508 NP_078784 Q9BTP6 ZBED2_HUMAN Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA. 157 DNA binding|metal ion binding p.R156R(1) large_intestine(3)|lung(1)|skin(2) 6 ACCTCCTTTTCCCTTTGGCTG 0.627000 56 18 0 0 0.016522 0 0 TPTE 7179 broad.mit.edu 37 21 10998311 10998311 + RNA SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr21:10998311C>T uc002yis.1 - 10 c.1942G>A P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTCTGATTTTCCATCACAATC 0.363000 61 10 0 0 0.008291 0 0 CBL 867 broad.mit.edu 37 11 119158644 119158644 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr11:119158644C>T uc001pwe.3 + 11 2162 c.2024C>T c.(2023-2025)tCt>tTt p.S675F NM_005188 NP_005179 P22681 CBL_HUMAN Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA. 675 Interaction with CD2AP.|Pro-rich. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.S675C(4) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) GCCATTTATTCTCTGGCTGCC 0.403000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 35 11 0 0 0.016723 0 0 SHOX2 6474 broad.mit.edu 37 3 157818099 157818099 + Splice_Site SNP A G G TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:157818099A>G uc003fbs.3 - 4 767 c.628_splice c.e4-1 p.V210_splice SHOX2_uc003fbr.3_Splice_Site_p.V186_splice|SHOX2_uc010hvw.3_Splice_Site_p.V186_splice NM_003030 NP_003021 O60902 SHOX2_HUMAN Homo sapiens short stature homeobox 2 (SHOX2), transcript variant 1, mRNA. 186 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.V57A(2) NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1) 20 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) TTGAAACCAAACCTATAGGTT 0.313000 56 5 0 0 0.014758 0 0 MCCC2 64087 broad.mit.edu 37 5 70892176 70892176 + Missense_Mutation SNP A G G TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:70892176A>G uc003kbs.4 + 2 404 c.266A>G c.(265-267)aAt>aGt p.N89S MCCC2_uc010iyv.1_Missense_Mutation_p.N89S|MCCC2_uc003kbt.4_Non-coding_Transcript NM_022132 NP_071415 Q9HCC0 MCCB_HUMAN Homo sapiens methylcrotonoyl-CoA carboxylase 2 (beta) (MCCC2), nuclear gene encoding mitochondrial protein, mRNA. 89 Carboxyltransferase. leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|methylcrotonoyl-CoA carboxylase activity endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 30 Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.04e-54) Biotin(DB00121) AGAATTGACAATCTCATAGAC 0.388000 81 21 0 0 0.012319 0 0 ETNK1 55500 broad.mit.edu 37 12 22796809 22796809 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:22796809G>A uc001rft.3 + 1 558 c.536G>A c.(535-537)cGa>cAa p.R179Q ETNK1_uc009ziz.3_Missense_Mutation_p.R179Q|ETNK1_uc001rfs.3_Missense_Mutation_p.R179Q NM_018638 NP_061108 Q9HBU6 EKI1_HUMAN Homo sapiens ethanolamine kinase 1 (ETNK1), transcript variant 1, mRNA. 179 phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|ethanolamine kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TTAGTCGATCGAGATGAGGAA 0.403000 63 10 0 0 0.008291 0 0 RAC1 5879 broad.mit.edu 37 7 6441629 6441629 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:6441629C>T uc003spx.3 + 4 660 c.419C>T c.(418-420)cCg>cTg p.P140L RAC1_uc003spw.3_Missense_Mutation_p.P159L|RAC1_uc021zzg.1_Missense_Mutation_p.P96L NM_006908 NP_008839 P63000 RAC1_HUMAN Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA. 140 T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) ATCACCTATCCGCAGGGTCTA 0.458000 93 18 0 0 0.014323 0 0 GZMB 3002 broad.mit.edu 37 14 25101557 25101557 + Missense_Mutation SNP G C C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr14:25101557G>C uc001wps.2 - 2 378 c.312C>G c.(310-312)aaC>aaG p.N104K GZMB_uc010ama.2_Missense_Mutation_p.N92K|GZMB_uc010amb.2_Intron NM_004131 NP_004122 P10144 GRAB_HUMAN Homo sapiens granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) (GZMB), mRNA. 104 Peptidase S1. activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals cytosol|immunological synapse|nucleus protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2) 13 GBM - Glioblastoma multiforme(265;0.028) CGTTGGAGAAGTTCTTAGGAT 0.537000 106 31 0 0 0.021022 0 0 ANKRD35 148741 broad.mit.edu 37 1 145561799 145561799 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:145561799G>A uc001eob.1 + 9 1595 c.1487G>A c.(1486-1488)aGg>aAg p.R496K ANKRD35_uc010oyx.1_Missense_Mutation_p.R339K NM_144698 NP_653299 Q8N283 ANR35_HUMAN Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA. 496 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTTCAACTAAGGGAGGAGCTT 0.602000 124 36 0 0 0.025465 0 0 SH2D4B 387694 broad.mit.edu 37 10 82369223 82369223 + Missense_Mutation SNP A T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:82369223A>T uc001kck.1 + 5 1331 c.901A>T c.(901-903)Atc>Ttc p.I301F SH2D4B_uc001kcl.1_Missense_Mutation_p.I253F|SH2D4B_uc001kcm.1_Missense_Mutation_p.I48F NM_207372 NP_997255 Q5SQS7 SH24B_HUMAN Homo sapiens SH2 domain containing 4B (SH2D4B), transcript variant 1, mRNA. 300 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6) 13 Colorectal(32;0.229) CAGAGATGTCATCGTCCGCTG 0.592000 39 9 0 0 0.006214 0 0 VPS13D 55187 broad.mit.edu 37 1 12343435 12343435 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:12343435C>T uc001atv.3 + 20 5417 c.5276C>T c.(5275-5277)cCc>cTc p.P1759L VPS13D_uc001atw.3_Missense_Mutation_p.P1759L|VPS13D_uc001atx.3_Missense_Mutation_p.P947L NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 1759 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AAGGACTATCCCTTGACCCCA 0.458000 35 5 0 0 0.014758 0 0 MUC16 94025 broad.mit.edu 37 19 9018453 9018453 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:9018453C>T uc002mkp.3 - 23 37925 c.37721G>A c.(37720-37722)aGg>aAg p.R12574K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 12576 SEA 4. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGCAGGACCCTCTCAGTGGT 0.547000 94 21 0 0 0.016522 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140731426 140731426 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:140731426G>A uc003ljo.2 + 0 1599 c.1599G>A c.(1597-1599)caG>caA p.Q533Q PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Silent_p.Q533Q NM_018922 NP_061745 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA. 539 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGGGACCAGGGCTCCCCCG 0.701000 55 15 0 0 0.020292 0 0 DNAH5 1767 broad.mit.edu 37 5 13700980 13700980 + Splice_Site SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:13700980C>T uc003jfd.2 - 78 13534 c.13492_splice c.e78-1 p.E4498_splice DNAH5_uc003jfc.2_Splice_Site_p.E666_splice NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 4498 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E4498K(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CGAGTTATTTCCTATTCAGGG 0.453000 Kartagener syndrome 51 8 0 0 0.003080 0 0 SYNJ2 8871 broad.mit.edu 37 6 158509711 158509711 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:158509711G>A uc003qqx.2 + 23 3469 c.3363G>A c.(3361-3363)aaG>aaA p.K1121K SYNJ2_uc003qqw.2_Silent_p.K1121K|SYNJ2_uc003qqy.2_Silent_p.K884K|SYNJ2_uc003qqz.2_Silent_p.K738K|SYNJ2_uc003qra.2_Silent_p.K464K NM_003898 NP_001171559 O15056 SYNJ2_HUMAN Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA. 1121 RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) TGGTGAAAAAGTCGGCTTCAG 0.527000 67 29 0 0 0.007291 0 0 GRHL2 79977 broad.mit.edu 37 8 102589725 102589725 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:102589725G>A uc010mbu.3 + 6 1311 c.981G>A c.(979-981)gcG>gcA p.A327A NM_024915 NP_079191 Q6ISB3 GRHL2_HUMAN Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA. 327 cytoplasm|nucleus DNA binding p.A327P(1) breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) AGCATACGGCGAAGCAGAGGG 0.498000 45 11 0 0 0.010729 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767767 77767767 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:77767767C>T uc003yau.2 + 9 8997 c.8610C>T c.(8608-8610)agC>agT p.S2870S ZFHX4_uc003yaw.1_Silent_p.S2825S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 2825 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTCTCACAAGCCCATCCATCC 0.498000 HNSCC(33;0.089) 23 5 0 0 0.014758 0 0 FBXL17 64839 broad.mit.edu 37 5 107197446 107197446 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:107197446G>A uc011cvc.2 - 8 2488 c.2081C>T c.(2080-2082)cCc>cTc p.P694L NM_001163315 NP_001156787 Q9UF56 FXL17_HUMAN Homo sapiens F-box and leucine-rich repeat protein 17 (FBXL17), mRNA. 694 endometrium(1)|large_intestine(4)|lung(1) 6 all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10) AGACATGTTGGGGGTCCAGCC 0.582000 33 9 0 0 0.008291 0 0 MLL3 58508 broad.mit.edu 37 7 151945102 151945102 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:151945102G>A uc003wla.3 - 13 2636 c.2417C>T c.(2416-2418)tCc>tTc p.S806F NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 806 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding p.S806S(1) NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TCCAGCAGAGGAACTAAGAGC 0.438000 N medulloblastoma 578 18 0 0 0.014323 0 0 TTC18 118491 broad.mit.edu 37 10 75101312 75101312 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:75101312C>T uc009xrc.3 - 6 758 c.637G>A c.(637-639)Gga>Aga p.G213R TTC18_uc001jty.3_Missense_Mutation_p.G213R|TTC18_uc009xrd.1_Missense_Mutation_p.G21R NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA. 213 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) TTCAGAGTTCCATTCTTAAAT 0.413000 44 12 0 0 0.016723 0 0 TOMM40 10452 broad.mit.edu 37 19 45406309 45406309 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:45406309C>T uc002paa.4 + 8 1165 c.969C>T c.(967-969)atC>atT p.I323I TOMM40_uc002ozz.3_3'UTR|TOMM40_uc002ozx.4_Silent_p.I323I|TOMM40_uc002ozy.4_Silent_p.I323I|APOE_uc002pab.3_5'Flank NM_001128917 NP_006105 O96008 TOM40_HUMAN Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast) (TOMM40), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 323 protein targeting to mitochondrion integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1) 5 Lung NSC(12;0.0018)|all_lung(12;0.00481) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176) GCAACTGGATCGTGGGTGCCA 0.587000 86 25 0 0 0.024334 0 0 RFPL1 5988 broad.mit.edu 37 22 29837577 29837577 + Silent SNP T A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr22:29837577T>A uc003afn.3 + 1 629 c.420T>A c.(418-420)atT>atA p.I140I RFPL1-AS1_uc003afm.2_Non-coding_Transcript NM_021026 NP_066306 O75677 RFPL1_HUMAN Homo sapiens ret finger protein-like 1 (RFPL1), mRNA. 140 B30.2/SPRY. zinc ion binding endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 TCCTCCTCATTTCTGACGACC 0.512000 58 19 0 0 0.012319 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23833376 23833376 + Splice_Site SNP T A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:23833376T>A uc003gqs.3 - 3 355 c.235_splice c.e3-1 p.K79_splice PPARGC1A_uc003gqt.3_Splice_Site|PPARGC1A_uc011bxp.1_Splice_Site|PPARGC1A_uc010ier.1_Splice_Site NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA. 79 RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) ATCTATCTTCTGCAGAAAGAG 0.448000 103 14 0 0 0.016723 0 0 ALG5 29880 broad.mit.edu 37 13 37569629 37569629 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr13:37569629G>A uc001uvy.3 - 1 238 c.171C>T c.(169-171)ccC>ccT p.P57P ALG5_uc010teq.2_Silent_p.P57P|ALG5_uc010ter.2_Non-coding_Transcript NM_013338 NP_037470 Q9Y673 ALG5_HUMAN Homo sapiens asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae) (ALG5), transcript variant 1, mRNA. 57 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472) CCCATATGCTGGGTAAAGTTT 0.403000 57 14 0 0 0.020292 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508025 37508025 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:37508025G>A uc021ppc.1 + 33 3316 c.3217G>A c.(3217-3219)Gaa>Aaa p.E1073K ANKRD30A_uc001iza.1_Missense_Mutation_p.E1073K NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 1129 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.K1072*(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CCAGGAAAAGGAAAATAAATA 0.318000 44 18 0 0 0.004990 0 0 KRT26 353288 broad.mit.edu 37 17 38926324 38926324 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:38926324C>T uc002hvf.3 - 3 778 c.732G>A c.(730-732)atG>atA p.M244I NM_181539 NP_853517 Q7Z3Y9 K1C26_HUMAN Homo sapiens keratin 26 (KRT26), mRNA. 244 Linker 12.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) GGGTTGCATTCATCTCCACGT 0.483000 67 22 0 0 0.012319 0 0 CYP2C19 1557 broad.mit.edu 37 10 96484139 96484139 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:96484139G>A uc001kjv.4 + 6 1324 c.998G>A c.(997-999)aGa>aAa p.R333K CYP2C19_uc001kjw.4_Missense_Mutation_p.R274K|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR NM_000772 NP_000763 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA. 333 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) GTAGTTGGCAGAAACCGGAGC 0.473000 68 18 0 0 0.014323 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140794192 140794192 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:140794192G>A uc003lkl.2 + 0 1450 c.1450G>A c.(1450-1452)Gac>Aac p.D484N PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Missense_Mutation_p.D484N NM_018913 NP_061736 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA. 482 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G484V(1) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGGACCCGGACAGCAAAGA 0.517000 111 8 0 0 0.004482 0 0 MOV10L1 54456 broad.mit.edu 37 22 50580616 50580616 + Missense_Mutation SNP G T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr22:50580616G>T uc003bjj.3 + 15 2260 c.2177G>T c.(2176-2178)tGg>tTg p.W726L MOV10L1_uc003bjk.4_Missense_Mutation_p.W726L|MOV10L1_uc011arp.2_Missense_Mutation_p.W706L|MOV10L1_uc011arq.1_Missense_Mutation_p.W487L|MOV10L1_uc010hao.1_Non-coding_Transcript NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA. 726 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) ATGAGCGATTGGGGTATGTGC 0.542000 OREG0026672 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 13 7.03913e-09 7.4048e-09 0.013537 1 0 LOXL4 84171 broad.mit.edu 37 10 100017472 100017472 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:100017472C>T uc001kpa.1 - 7 1346 c.1195G>A c.(1195-1197)Ggt>Agt p.G399S NM_032211 NP_115587 Q96JB6 LOXL4_HUMAN Homo sapiens lysyl oxidase-like 4 (LOXL4), mRNA. 399 SRCR 3. extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2) 26 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) TGTTGGCAACCATTCTGGGAC 0.587000 56 22 0 0 0.014323 0 0 NAA25 80018 broad.mit.edu 37 12 112499158 112499158 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:112499158G>A uc001ttm.3 - 11 1242 c.1184C>T c.(1183-1185)tCg>tTg p.S395L NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Missense_Mutation_p.S367L|NAA25_uc009zwa.2_Missense_Mutation_p.S395L NM_024953 NP_079229 Q14CX7 NAA25_HUMAN Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA. 395 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 TGTTGGTGTCGACAAAGGAAC 0.453000 32 9 0 0 0.006214 0 0 OR13C2 392376 broad.mit.edu 37 9 107367138 107367138 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr9:107367138G>A uc011lvq.2 - 0 771 c.771C>T c.(769-771)ttC>ttT p.F257F NM_001004481 NP_001004481 Q8NGS9 O13C2_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA. 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 TCATGTACATGAAGAGGATGG 0.438000 49 6 0 0 0.001984 0 0 IL6 3569 broad.mit.edu 37 7 22769227 22769227 + Missense_Mutation SNP C G G TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:22769227C>G uc003svj.4 + 3 535 c.419C>G c.(418-420)gCc>gGc p.A140G LOC541472_uc010kun.2_5'Flank|IL6_uc011jyo.1_Missense_Mutation_p.A140G|IL6_uc011jyp.1_Missense_Mutation_p.A64G|IL6_uc011jyq.1_Missense_Mutation_p.A194G NM_000600 NP_000591 P05231 IL6_HUMAN Homo sapiens interleukin 6 (interferon, beta 2) (IL6), mRNA. 140 acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of B cell activation|positive regulation of T cell proliferation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan extracellular space|interleukin-6 receptor complex cytokine activity|growth factor activity|interleukin-6 receptor binding breast(1)|endometrium(2)|large_intestine(4)|lung(1) 8 Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641) GAGGAACAAGCCAGAGCTGTG 0.478000 50 13 0 0 0.020292 0 0 CLVS1 157807 broad.mit.edu 37 8 62212827 62212827 + Silent SNP T C C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:62212827T>C uc003xuh.3 + 1 765 c.441T>C c.(439-441)aaT>aaC p.N147N CLVS1_uc003xug.2_Silent_p.N147N|CLVS1_uc003xui.3_Intron NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN Homo sapiens clavesin 1 (CLVS1), mRNA. 147 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity p.A146A(1) endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TTGCAGCCAATTGGGATCAGA 0.438000 22 3 0 0 0.004672 0 0 OSBPL7 114881 broad.mit.edu 37 17 45891179 45891179 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:45891179G>A uc002ilx.1 - 14 1576 c.1373C>T c.(1372-1374)cCc>cTc p.P458L OSBPL7_uc002ilw.1_Missense_Mutation_p.P20L NM_145798 NP_665741 Q9BZF2 OSBL7_HUMAN Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA. 458 lipid transport lipid binding autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 TGGCCCCATGGGTCTCCCTGG 0.682000 18 7 0 0 0.004482 0 0 MYLK2 85366 broad.mit.edu 37 20 30407947 30407947 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr20:30407947C>T uc002wwq.2 + 2 173 c.71C>T c.(70-72)cCc>cTc p.P24L NM_033118 NP_149109 Q9H1R3 MYLK2_HUMAN Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA. 24 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CCTAAAGGTCCCACAGGTGAA 0.602000 35 9 0 0 0.004482 0 0 SCRN2 90507 broad.mit.edu 37 17 45915274 45915274 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:45915274G>A uc002imd.3 - 7 1340 c.1214C>T c.(1213-1215)cCc>cTc p.P405L SCRN2_uc002imf.3_3'UTR NM_138355 NP_612364 Q96FV2 SCRN2_HUMAN Homo sapiens secernin 2 (SCRN2), transcript variant 1, mRNA. 405 proteolysis dipeptidase activity cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 14 CTCCCAGAGGGGTGGGGCCCA 0.662000 28 5 0 0 0.001984 0 0 MYLK 4638 broad.mit.edu 37 3 123452564 123452564 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:123452564C>T uc003ego.3 - 9 1561 c.1279G>A c.(1279-1281)Gaa>Aaa p.E427K MYLK_uc011bjw.2_Missense_Mutation_p.E427K|MYLK_uc003egp.3_Missense_Mutation_p.E427K|MYLK_uc003egq.3_Missense_Mutation_p.E427K|MYLK_uc003egr.3_Missense_Mutation_p.E427K|MYLK_uc003egs.3_Missense_Mutation_p.E251K NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 427 Ig-like C2-type 3. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity p.K426N(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GTTTGATTTTCCTTGACCTCC 0.507000 92 21 0 0 0.021523 0 0 CAPN13 92291 broad.mit.edu 37 2 31010176 31010176 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:31010176C>T uc021vfn.1 - 0 48 c.16G>A c.(16-18)Gag>Aag p.E6K CAPN13_uc021vfm.1_Missense_Mutation_p.E6K|CAPN13_uc002rnp.1_Missense_Mutation_p.E6K NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN Homo sapiens calpain 13 (CAPN13), mRNA. 6 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) ACTGAAGGCTCCTGGTAATAC 0.502000 9 4 0 0 0.014758 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217899 150217899 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:150217899G>A uc003whk.3 + 1 967 c.837G>A c.(835-837)agG>agA p.R279R GIMAP7_uc022apu.1_Silent_p.R279R NM_153236 NP_694968 Q8NHV1 GIMA7_HUMAN Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA. 279 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTTTTAATAGGATTTGGAAGA 0.239000 20 6 0 0 0.003080 0 0 FAM179A 165186 broad.mit.edu 37 2 29256361 29256361 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:29256361C>T uc010ezl.3 + 15 2508 c.2157C>T c.(2155-2157)ccC>ccT p.P719P FAM179A_uc010ymm.2_Silent_p.P664P|FAM179A_uc002rmr.4_Silent_p.P246P|FAM179A_uc002rms.1_Silent_p.P17P NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA. 719 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ATGAACTTCCCTCTGCCAAAG 0.517000 13 4 0 0 0.009096 0 0 DUSP22 56940 broad.mit.edu 37 6 348139 348139 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:348139C>T uc003msx.3 + 5 739 c.300C>T c.(298-300)atC>atT p.I100I DUSP22_uc011dhn.1_Silent_p.I100I|DUSP22_uc003msy.1_Silent_p.I57I NM_020185 NP_064570 Q9NRW4 DUS22_HUMAN Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA. 100 Tyrosine-protein phosphatase. apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.I100M(2) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) CACTGGTGATCGCATACATCA 0.607000 152 21 0 0 0.010504 0 0 TTC18 118491 broad.mit.edu 37 10 75090940 75090940 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:75090940C>T uc009xrc.3 - 8 1103 c.982G>A c.(982-984)Gaa>Aaa p.E328K TTC18_uc001jty.3_Missense_Mutation_p.E328K|TTC18_uc009xrd.1_Missense_Mutation_p.E136K NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA. 328 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) TTTACCTTTTCAGTTTTGCCA 0.403000 18 5 0 0 0.021553 0 0 SUN5 140732 broad.mit.edu 37 20 31585462 31585462 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr20:31585462C>T uc002wyi.3 - 5 465 c.372G>A c.(370-372)tcG>tcA p.S124S NM_080675 NP_542406 Q8TC36 SUN5_HUMAN Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA. 124 spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 CTTTCATTTTCGATGGTAAGT 0.473000 58 9 0 0 0.008291 0 0 KSR2 283455 broad.mit.edu 37 12 118293378 118293378 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:118293378G>A uc001two.2 - 2 295 c.240C>T c.(238-240)atC>atT p.I80I NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 109 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGCCGGGGGAGATTTCCTAGA 0.602000 20 7 0 0 0.001984 0 0 CYP2U1 113612 broad.mit.edu 37 4 108870574 108870574 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:108870574C>T uc003hyp.3 + 3 1440 c.1357C>T c.(1357-1359)Cca>Tca p.P453S CYP2U1_uc011cfi.2_Missense_Mutation_p.P244S NM_183075 NP_898898 Q7Z449 CP2U1_HUMAN Homo sapiens cytochrome P450, family 2, subfamily U, polypeptide 1 (CYP2U1), mRNA. 453 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000128) ACATAGAGACCCAGCCATTTG 0.408000 42 4 0 0 0.009096 0 0 MARCO 8685 broad.mit.edu 37 2 119748183 119748183 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:119748183G>A uc002tln.1 + 12 1214 c.1082G>A c.(1081-1083)gGa>gAa p.G361E MARCO_uc010yyf.1_Missense_Mutation_p.G283E NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 361 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 GGACAGCAAGGAAGAAAAGGA 0.468000 43 14 0 0 0.004990 0 0 MYH2 4620 broad.mit.edu 37 17 10447086 10447086 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:10447086G>A uc010coi.3 - 7 811 c.683C>T c.(682-684)cCc>cTc p.P228L AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.P228L|MYH2_uc010coj.3_Missense_Mutation_p.P228L NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 228 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CTCCAGTAGGGGGTTGGCACT 0.522000 40 13 0 0 0.016723 0 0 C7 730 broad.mit.edu 37 5 40947853 40947853 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:40947853C>T uc003jmh.3 + 7 1002 c.888C>T c.(886-888)atC>atT p.I296I C7_uc011cpn.1_Intron NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 296 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GAAGATTAATCGACCAGTACG 0.408000 52 15 0 0 0.024245 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110412386 110412386 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:110412386C>T uc003yne.3 + 12 1198 c.1094C>T c.(1093-1095)aCg>aTg p.T365M NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 365 immune response cytosol|extracellular space|integral to membrane receptor activity p.N364K(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AATGAAAAAACGCCTGGGTAC 0.433000 HNSCC(38;0.096) 148 25 0 0 0.018920 0 0 CD160 11126 broad.mit.edu 37 1 145704307 145704307 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:145704307C>T uc001eol.1 - 3 328 c.110G>A c.(109-111)gGa>gAa p.G37E CD160_uc001eom.1_Intron|CD160_uc010oyz.1_Intron NM_007053 NP_008984 O95971 BY55_HUMAN Homo sapiens CD160 molecule (CD160), mRNA. 37 Ig-like V-type. cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response anchored to plasma membrane MHC class I receptor activity|receptor binding endometrium(3)|large_intestine(2)|lung(2) 7 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) TAGTCGCGTTCCTTCCTGGGA 0.458000 36 5 0 0 0.001984 0 0 PDGFRB 5159 broad.mit.edu 37 5 149495355 149495355 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:149495355G>A uc003lro.3 - 22 3761 c.3292C>T c.(3292-3294)Cgg>Tgg p.R1098W CSF1R_uc003lrm.3_5'Flank|PDGFRB_uc003lrn.1_5'Flank|PDGFRB_uc010jhd.3_Missense_Mutation_p.R937W NM_002609 NP_002600 P09619 PGFRB_HUMAN Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA. 1098 aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GCTTCCGCCCGAGGCGCAGGG 0.687000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 30 10 0 0 0.020292 0 0 DOCK11 139818 broad.mit.edu 37 X 117712602 117712602 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:117712602C>T uc004eqp.2 + 12 1567 c.1504C>T c.(1504-1506)Cca>Tca p.P502S DOCK11_uc004eqq.2_Missense_Mutation_p.P268S NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA. 502 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 AAATTCTGATCCAGTAAAGGT 0.343000 19 5 0 0 0.014758 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142481278 142481278 + Missense_Mutation SNP G A A rs143782230 by1000genomes TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:142481278G>A uc011ksq.2 + 2 435 c.352G>A c.(352-354)Gtc>Atc p.V118I TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA. p.V118F(1) CACACCTGCCGTCATCAATGC 0.542000 43 4 0 0 0.008291 0 0 INTS3 65123 broad.mit.edu 37 1 153741373 153741373 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:153741373C>T uc009wom.3 + 22 2470 c.2249C>T c.(2248-2250)cCa>cTa p.P750L INTS3_uc001fct.3_Missense_Mutation_p.P750L|INTS3_uc001fcu.3_Missense_Mutation_p.P442L|INTS3_uc001fcv.3_Missense_Mutation_p.P544L|INTS3_uc010peb.2_Missense_Mutation_p.P544L|INTS3_uc001fcw.3_Missense_Mutation_p.P263L|INTS3_uc010pec.2_Missense_Mutation_p.P263L|INTS3_uc001fcx.3_Missense_Mutation_p.P47L|INTS3_uc001fcy.3_Missense_Mutation_p.P47L NM_023015 NP_075391 Q68E01 INT3_HUMAN Homo sapiens integrator complex subunit 3 (INTS3), mRNA. 751 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing SOSS complex|integrator complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ATTTAGTTTCCAGATGAAACC 0.483000 28 4 0 0 0.009096 0 0 PKD1L1 168507 broad.mit.edu 37 7 47913507 47913507 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:47913507C>T uc003tny.2 - 23 3920 c.3886G>A c.(3886-3888)Ggc>Agc p.G1296S NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 1296 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AGGTCCTCGCCCAGACAGTCA 0.507000 36 8 0 0 0.003080 0 0 FAM83D 81610 broad.mit.edu 37 20 37581057 37581058 + Missense_Mutation DNP GG AA AA TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr20:37581057_37581058GG>AA uc002xjg.3 + 3 1783_1784 c.1742_1743GG>AA c.(1741-1743)agg>aAA p.R581K NM_030919 NP_112181 Q9H4H8 FA83D_HUMAN Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA. 551 cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) ATGCTGTCAAGGAGAACACTCT 0.450000 71 19 0 0 0.004672 0 0 SLC6A11 6538 broad.mit.edu 37 3 10865066 10865066 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:10865066G>A uc003bvz.3 + 3 646 c.612G>A c.(610-612)atG>atA p.M204I SLC6A11_uc003bvy.1_Missense_Mutation_p.M204I NM_014229 NP_055044 P48066 S6A11_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA. 204 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) CCCCTGTCATGGAGTTTTGGG 0.502000 43 16 0 0 0.028581 0 0 RYR2 6262 broad.mit.edu 37 1 237919588 237919588 + Splice_Site SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:237919588G>A uc001hyl.1 + 81 11266 c.11146_splice c.e81-1 p.E3716_splice RYR2_uc010pya.2_Splice_Site_p.E131_splice NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 3716 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTGTGTTCAGGAAAAAGAAAT 0.443000 34 4 0 0 0.014758 0 0 ZNF175 7728 broad.mit.edu 37 19 52090840 52090840 + Missense_Mutation SNP A T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:52090840A>T uc002pxb.3 + 4 1634 c.1256A>T c.(1255-1257)tAt>tTt p.Y419F NM_007147 NP_009078 Q9Y473 ZN175_HUMAN Homo sapiens zinc finger protein 175 (ZNF175), mRNA. 419 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) GAGAGACAGTATGCATGCAGT 0.438000 33 7 0 0 0.001984 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767066 77767066 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:77767066C>T uc003yau.2 + 9 8296 c.7909C>T c.(7909-7911)Cat>Tat p.H2637Y ZFHX4_uc003yaw.1_Missense_Mutation_p.H2592Y NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 2592 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.W2636*(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AATGCTTGATCATATTGCCCG 0.512000 HNSCC(33;0.089) 30 7 0 0 0.001984 0 0 MAN1A1 4121 broad.mit.edu 37 6 119525949 119525949 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:119525949G>A uc003pym.1 - 6 1533 c.1091C>T c.(1090-1092)tCa>tTa p.S364L NM_005907 NP_005898 P33908 MA1A1_HUMAN Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA. 364 post-translational protein modification|protein N-linked glycosylation via asparagine ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) GGGGTTTCCTGATAAGTGGCT 0.468000 59 12 0 0 0.010729 0 0 OR2W5 441932 broad.mit.edu 37 1 247654770 247654770 + Missense_Mutation SNP T C C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:247654770T>C uc001icz.2 + 0 401 c.341T>C c.(340-342)cTc>cCc p.L114P NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA. 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-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) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GAGTGCGTCCTCCTGGTTGTC 0.602000 63 10 0 0 0.008291 0 0 SCN2A 6326 broad.mit.edu 37 2 166245390 166245390 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:166245390G>A uc002udc.3 + 26 5364 c.5074G>A c.(5074-5076)Gat>Aat p.D1692N SCN2A_uc002udd.3_Missense_Mutation_p.D1692N|SCN2A_uc002ude.3_Missense_Mutation_p.D1692N|SCN2A_uc021vry.1_Missense_Mutation_p.D192N NM_001040142 NP_066287 Q99250 SCN2A_HUMAN Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA. 1692 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) AGTTGGGATCGATGACATGTT 0.448000 149 24 0 0 0.024334 0 0 PCYT1B 9468 broad.mit.edu 37 X 24625972 24625972 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:24625972C>T uc004dbi.3 - 2 457 c.224G>A c.(223-225)aGg>aAg p.R75K PCYT1B_uc004dbk.4_Missense_Mutation_p.R75K|PCYT1B_uc004dbj.3_Missense_Mutation_p.R57K NM_004845 NP_004836 Q9Y5K3 PCY1B_HUMAN Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 1, mRNA. 75 Catalytic (Potential). endoplasmic reticulum choline-phosphate cytidylyltransferase activity breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 17 Choline(DB00122) TCTGACAGGCCTGTCAGCTGT 0.443000 11 3 0 0 0.014758 0 0 NOTCH4 4855 broad.mit.edu 37 6 32183118 32183118 + Missense_Mutation SNP G T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:32183118G>T uc003obb.3 - 11 2045 c.1906C>A c.(1906-1908)Ccc>Acc p.P636T NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript NM_004557 NP_004548 Q99466 NOTC4_HUMAN Homo sapiens notch 4 (NOTCH4), mRNA. 636 EGF-like 16. Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 ATCTGCTTGGGCTGGCACAGG 0.572000 231 41 6.21074e-16 6.56749e-16 0.011902 1 0 IGH 0 broad.mit.edu 37 16 33020774 33020774 + RNA SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr16:33020774G>A uc021thd.1 + 0 c.122G>A Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:kh0004h. CAGGCTCCAGGGAAGGGACTG 0.562000 222 39 0 0 0.008740 0 0 HLA-F 3134 broad.mit.edu 37 6 29692182 29692182 + Silent SNP C T T rs138293991 by1000genomes TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:29692182C>T uc003nno.4 + 2 691 c.567C>T c.(565-567)ctC>ctT p.L189L HLA-F_uc010jrl.3_Silent_p.L189L|HLA-F_uc003nnm.4_Silent_p.L189L|HLA-F_uc011dlx.1_Silent_p.L189L|HLA-F_uc011dly.1_Non-coding_Transcript NM_001098479 NP_001091949 P30511 HLAF_HUMAN Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA. 189 Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway MHC class I protein complex|integral to membrane MHC class I receptor activity p.L189L(3) cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 TGGAGTTGCTCCGCAGATACT 0.602000 52 8 0 0 0.004482 0 0 NOTCH2 4853 broad.mit.edu 37 1 120458690 120458690 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:120458690G>A uc001eik.3 - 33 6952 c.6655C>T c.(6655-6657)Ccc>Tcc p.P2219S NM_024408 NP_077719 Q04721 NOTC2_HUMAN Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA. 2219 Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CTCACTGAGGGAAGCACAGTG 0.572000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 421 113 0 0 0.014410 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38673292 38673292 + Nonsense_Mutation SNP A T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:38673292A>T uc002ohk.3 + 15 4851 c.4342A>T c.(4342-4344)Aag>Tag p.K1448* NM_015073 NP_055888 O60292 SI1L3_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA. 1448 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CTTCTTCTCCAAGCAGCCTGT 0.607000 76 15 0 0 0.020292 0 0 ACSL6 23305 broad.mit.edu 37 5 131329887 131329887 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:131329887C>T uc003kvx.2 - 1 216 c.107G>A c.(106-108)cGa>cAa p.R36Q ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Missense_Mutation_p.R36Q|ACSL6_uc003kvy.2_Missense_Mutation_p.R36Q|ACSL6_uc003kvz.2_Missense_Mutation_p.R11Q|ACSL6_uc021ydh.1_Missense_Mutation_p.R11Q|ACSL6_uc010jdo.2_Missense_Mutation_p.R11Q|ACSL6_uc003kwa.2_Missense_Mutation_p.R22Q|ACSL6_uc003kwc.1_Missense_Mutation_p.R11Q|ACSL6_uc003kwd.1_Missense_Mutation_p.R11Q|ACSL6_uc010jdn.2_Missense_Mutation_p.R11Q NM_015256 NP_001192177 Q9UKU0 ACSL6_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA. 11 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTCAGGCAGTCGCAGTATCCT 0.547000 22 5 0 0 0.014758 0 0 ENTHD1 150350 broad.mit.edu 37 22 40161538 40161538 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr22:40161538G>A uc003ayg.3 - 5 1160 c.909C>T c.(907-909)atC>atT p.I303I NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA. 303 p.I303I(2) breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) TATTTGTAAAGATACCATCTG 0.383000 75 15 0 0 0.004990 0 0 ATP13A5 344905 broad.mit.edu 37 3 193081925 193081925 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:193081925C>T uc011bsq.2 - 1 208 c.208G>A c.(208-210)Gaa>Aaa p.E70K NM_198505 NP_940907 Q4VNC0 AT135_HUMAN Homo sapiens ATPase type 13A5 (ATP13A5), mRNA. 70 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) GTGTCTGCTTCTTGCAAGGGG 0.527000 97 36 0 0 0.019004 0 0 PCK1 5105 broad.mit.edu 37 20 56138106 56138106 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr20:56138106C>T uc002xyn.4 + 4 796 c.633C>T c.(631-633)ccC>ccT p.P211P PCK1_uc010zzm.2_Intron NM_002591 NP_002582 P35558 PCKGC_HUMAN Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA. 211 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) ACAACTGGCCCTGCAACCCGG 0.632000 53 10 0 0 0.008291 0 0 JARID2 3720 broad.mit.edu 37 6 15513580 15513580 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:15513580C>T uc003nbj.3 + 15 3621 c.3377C>T c.(3376-3378)cCt>cTt p.P1126L JARID2_uc011div.2_Missense_Mutation_p.P954L NM_004973 NP_004964 Q92833 JARD2_HUMAN Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA. 1126 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) AAGAAAAAGCCTCGAAAGTGG 0.657000 33 12 0 0 0.016723 0 0 PLGLA 285189 broad.mit.edu 37 2 107007416 107007416 + RNA SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:107007416C>T uc002tdp.3 + 2 c.265C>T Homo sapiens plasminogen-like A (PLGLA), non-coding RNA. GGGACGATGTCCAAAACAAAA 0.438000 26 3 0 0 0.004672 0 0 IRS2 8660 broad.mit.edu 37 13 110436510 110436510 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr13:110436510C>T uc001vqv.3 - 0 2405 c.1891G>A c.(1891-1893)Gac>Aac p.D631N NM_003749 NP_003740 Q9Y4H2 IRS2_HUMAN Homo sapiens insulin receptor substrate 2 (IRS2), mRNA. 631 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 19 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) TCTCCGTAGTCCTCTGGGTAG 0.701000 18 3 0 0 0.009096 0 0 CTSW 1521 broad.mit.edu 37 11 65649973 65649973 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr11:65649973G>A uc001ogc.1 + 4 556 c.514G>A c.(514-516)Gat>Aat p.D172N NM_001335 NP_001326 P56202 CATW_HUMAN Homo sapiens cathepsin W (CTSW), mRNA. 172 immune response|proteolysis cysteine-type endopeptidase activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5) 9 READ - Rectum adenocarcinoma(159;0.168) CAGTTTCTGGGATTTTGTGGA 0.627000 45 10 0 0 0.008291 0 0 PPM1E 22843 broad.mit.edu 37 17 57046945 57046946 + Missense_Mutation DNP GG AA AA TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:57046945_57046946GG>AA uc002iwx.3 + 3 956_957 c.829_830GG>AA c.(829-831)gga>AAa p.G277K PPM1E_uc010ddd.3_Missense_Mutation_p.G40K NM_014906 NP_055721 Q8WY54 PPM1E_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1E (PPM1E), mRNA. 286 PP2C-like. protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity p.G276W(1) biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) TGGCCATGGGGGAGTAGATGCT 0.495000 58 11 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179433796 179433797 + Missense_Mutation DNP TG CT CT TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:179433796_179433797TG>CT uc021vsy.1 - 274 69583_69584 c.69358_69359CA>AG c.(69358-69360)cag>AGg p.Q23120R MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.Q16815R|TTN_uc021vta.1_Missense_Mutation_p.Q16748R|TTN_uc021vtb.1_Missense_Mutation_p.Q16623R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 24047 Ig-like 118. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATCAGCAGTCTGGGCAGGAAGG 0.436000 91 19 0 0 0.004672 0 0 MTMR7 9108 broad.mit.edu 37 8 17198974 17198974 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:17198974G>A uc003wxm.3 - 5 869 c.630C>T c.(628-630)tcC>tcT p.S210S MTMR7_uc003wxn.3_5'UTR NM_004686 NP_004677 Q9Y216 MTMR7_HUMAN Homo sapiens myotubularin related protein 7 (MTMR7), mRNA. 210 Myotubularin phosphatase. protein tyrosine phosphatase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) CACTGAAGCCGGACAGGGGCT 0.577000 38 12 0 0 0.013537 0 0 LOC442459 442459 broad.mit.edu 37 X 98974871 98974871 + RNA SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:98974871G>A uc011mrd.1 - 7 c.1472C>T Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA. AGACCAGCTGGAAACCTGGAG 0.478000 19 3 0 0 0.004672 0 0 C3 718 broad.mit.edu 37 19 6702496 6702496 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:6702496C>T uc002mfm.3 - 17 2402 c.2340G>A c.(2338-2340)gaG>gaA p.E780E NM_000064 NP_000055 P01024 CO3_HUMAN Homo sapiens complement component 3 (C3), mRNA. 780 G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TTTTCGGTGGCTCTTTCAAGT 0.527000 72 16 0 0 0.004990 0 0 RNF157 114804 broad.mit.edu 37 17 74163764 74163764 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:74163764C>T uc002jqz.3 - 3 480 c.411G>A c.(409-411)caG>caA p.Q137Q RNF157_uc002jra.3_Silent_p.Q137Q NM_052916 NP_443148 Q96PX1 RN157_HUMAN Homo sapiens ring finger protein 157 (RNF157), mRNA. 137 zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 25 LUSC - Lung squamous cell carcinoma(166;0.187) CTTCCGTGGCCTGGTAATAGA 0.498000 73 7 0 0 0.001984 0 0 TCEAL3 85012 broad.mit.edu 37 X 102864583 102864583 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:102864583C>T uc022cbu.1 + 0 591 c.591C>T c.(589-591)atC>atT p.I197I TCEAL3_uc004ekq.3_Silent_p.I197I|TCEAL3_uc004ekr.3_Silent_p.I197I NM_032926 NP_116315 Q969E4 TCAL3_HUMAN Homo sapiens transcription elongation factor A (SII)-like 3 (TCEAL3), transcript variant 2, mRNA. 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 16 TACACGATATCCCATACCTTT 0.527000 64 7 0 0 0.003080 0 0 HAPLN1 1404 broad.mit.edu 37 5 82948397 82948397 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:82948397C>T uc003kim.3 - 1 418 c.347G>A c.(346-348)gGa>gAa p.G116E HAPLN1_uc003kin.3_Missense_Mutation_p.G116E NM_001884 NP_001875 P10915 HPLN1_HUMAN Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA. 116 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding p.G116R(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) ATCACTGCCTCCCTTCAGAAA 0.428000 80 7 0 0 0.003080 0 0 CRNN 49860 broad.mit.edu 37 1 152383215 152383215 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:152383215C>T uc001ezx.2 - 2 417 c.343G>A c.(343-345)Gaa>Aaa p.E115K NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN Homo sapiens cornulin (CRNN), mRNA. 115 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding p.G114S(1) breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTGTCCTTCGCCCAGCTCC 0.617000 230 44 0 0 0.014410 0 0 PTPN3 5774 broad.mit.edu 37 9 112172648 112172648 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr9:112172648G>A uc004bed.2 - 14 1473 c.1361C>T c.(1360-1362)tCa>tTa p.S454L PTPN3_uc004beb.2_Missense_Mutation_p.S323L|PTPN3_uc004bec.2_Missense_Mutation_p.S278L|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.S409L|PTPN3_uc011lwh.1_Missense_Mutation_p.S300L|PTPN3_uc011lwd.1_5'UTR|PTPN3_uc011lwe.1_Missense_Mutation_p.S167L|PTPN3_uc011lwf.1_Missense_Mutation_p.S122L NM_002829 NP_001138843 P26045 PTN3_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA. 454 negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 AGAACTGGATGACTTCTGGGT 0.468000 55 6 0 0 0.021553 0 0 SLC34A2 10568 broad.mit.edu 37 4 25673274 25673274 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:25673274C>T uc003grr.3 + 8 1060 c.979C>T c.(979-981)Ctc>Ttc p.L327F SLC34A2_uc003grs.3_Missense_Mutation_p.L326F|SLC34A2_uc010iev.3_Missense_Mutation_p.L326F NM_006424 NP_006415 O95436 NPT2B_HUMAN Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA. 327 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) CTCCCCTTCCCTCTGTTGGAC 0.502000 T ROS1 NSCLC 164 14 0 0 0.020292 0 0 SCN3A 6328 broad.mit.edu 37 2 165994598 165994598 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:165994598G>A uc002ucx.3 - 14 2674 c.2182C>T c.(2182-2184)Cca>Tca p.P728S SCN3A_uc002ucy.3_Missense_Mutation_p.P679S|SCN3A_uc002ucz.3_Missense_Mutation_p.P679S|SCN3A_uc002uda.1_Missense_Mutation_p.P548S|SCN3A_uc002udb.1_Missense_Mutation_p.P548S NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA. 728 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TACCAGCATGGCGGACATTTC 0.348000 29 12 0 0 0.016723 0 0 MYH9 4627 broad.mit.edu 37 22 36698617 36698617 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr22:36698617G>A uc003apg.3 - 19 2727 c.2496C>T c.(2494-2496)acC>acT p.T832T MYH9_uc003aph.1_Silent_p.T696T NM_002473 NP_002464 P35579 MYH9_HUMAN Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA. 832 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CACGCACCTTGGTGAAGAGCC 0.567000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 48 15 0 0 0.004990 0 0 TYW1B 441250 broad.mit.edu 37 7 72193812 72193812 + Missense_Mutation SNP C G G TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:72193812C>G uc011kej.2 - 10 1326 c.1167G>C c.(1165-1167)caG>caC p.Q389H TYW1B_uc011keh.1_Missense_Mutation_p.Q227H|TYW1B_uc011kei.2_Missense_Mutation_p.Q16H|TYW1B_uc011kek.1_Non-coding_Transcript NM_001145440 NP_001138912 Q6NUM6 TYW1B_HUMAN Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA. 390 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity TAATCATGTTCTGATGGTTTT 0.418000 33 8 0 0 0.003080 0 0 GALNT2 2590 broad.mit.edu 37 1 230390970 230390970 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:230390970C>T uc010pwa.1 + 10 1088 c.1016C>T c.(1015-1017)tCg>tTg p.S339L GALNT2_uc010pvy.1_Missense_Mutation_p.S301L|GALNT2_uc010pvz.1_Non-coding_Transcript NM_004481 NP_004472 Q10471 GALT2_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA. 339 Catalytic subdomain B. immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) TCAGAGATCTCGTTCCGCGTG 0.617000 88 21 0 0 0.014323 0 0 FPR3 2359 broad.mit.edu 37 19 52327094 52327094 + Silent SNP A G G TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:52327094A>G uc002pxt.1 + 1 277 c.93A>G c.(91-93)ctA>ctG p.L31L FPR3_uc021uyq.1_Silent_p.L31L NM_002030 NP_002021 P25089 FPR3_HUMAN Homo sapiens formyl peptide receptor 3 (FPR3), mRNA. 31 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity p.L30L(1) NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 TCTCATTGCTAGTCCACGGAG 0.542000 49 11 0 0 0.008291 0 0 TAS2R31 259290 broad.mit.edu 37 12 11183905 11183905 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:11183905G>A uc001qzo.1 - 0 102 c.30C>T c.(28-30)tcC>tcT p.S10S PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron NM_176885 NP_795366 P59538 T2R31_HUMAN Homo sapiens taste receptor, type 2, member 31 (TAS2R31), mRNA. 10 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|lung(6) 7 CTACCACACTGGAAAAAATGA 0.383000 37 7 0 0 0.004482 0 0 ST7L 54879 broad.mit.edu 37 1 113124629 113124629 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:113124629G>A uc001ecd.3 - 8 1359 c.1054C>T c.(1054-1056)Cta>Tta p.L352L ST7L_uc009wgh.3_Intron|ST7L_uc001ecc.3_Silent_p.L169L|ST7L_uc010owg.2_Silent_p.L287L|ST7L_uc010owh.2_Intron|ST7L_uc001ecf.3_Silent_p.L335L|ST7L_uc001ece.3_Silent_p.L352L|ST7L_uc001ecg.3_Non-coding_Transcript|ST7L_uc010owi.2_Silent_p.L287L|ST7L_uc001ech.3_Silent_p.L335L|ST7L_uc001eci.3_Silent_p.L352L|ST7L_uc009wgi.1_Non-coding_Transcript|ST7L_uc010owj.1_Silent_p.L335L NM_017744 NP_060214 Q8TDW4 ST7L_HUMAN Homo sapiens suppression of tumorigenicity 7 like (ST7L), transcript variant 1, mRNA. 352 negative regulation of cell growth integral to membrane binding endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3) 15 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TATTTTGCTAGGACTGCCTGA 0.323000 27 5 0 0 0.021553 0 0 MAGEB3 4114 broad.mit.edu 37 X 30254885 30254885 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:30254885G>A uc022bug.1 + 0 844 c.844G>A c.(844-846)Gaa>Aaa p.E282K MAGEB3_uc004dca.2_Missense_Mutation_p.E282K NM_002365 NP_002356 O15480 MAGB3_HUMAN Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA. 282 MAGE. p.A281P(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 25 AGCCCATGCTGAAACCAGCAA 0.493000 51 5 0 0 0.021553 0 0 ITPR1 3708 broad.mit.edu 37 3 4722316 4722316 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:4722316C>T uc003bqc.3 + 23 3352 c.3002C>T c.(3001-3003)tCc>tTc p.S1001F ITPR1_uc021wsi.1_Missense_Mutation_p.S1007F|ITPR1_uc021wsj.1_Missense_Mutation_p.S992F|ITPR1_uc011asu.2_Intron NM_001168272 NP_001161744 Q14643 ITPR1_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA. 1016 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GAAAGCAATTCCCAGACTTCA 0.413000 37 9 0 0 0.006214 0 0 TET1 80312 broad.mit.edu 37 10 70405330 70405330 + Silent SNP A T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:70405330A>T uc001jok.4 + 3 3349 c.2844A>T c.(2842-2844)ggA>ggT p.G948G NM_030625 NP_085128 Q8NFU7 TET1_HUMAN Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA. 948 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 ACTTACAGGGAGAGCCACCAA 0.428000 30 9 0 0 0.006214 0 0 PDK1 5163 broad.mit.edu 37 2 173451010 173451010 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:173451010G>A uc002uhs.3 + 8 1050 c.950G>A c.(949-951)aGt>aAt p.S317N PDK1_uc010zdz.1_Missense_Mutation_p.S162N|PDK1_uc010zea.1_Non-coding_Transcript|PDK1_uc002uhq.1_Missense_Mutation_p.S337N|PDK1_uc010zeb.2_Missense_Mutation_p.S337N NM_002610 NP_002601 Q15118 PDK1_HUMAN Homo sapiens pyruvate dehydrogenase kinase, isozyme 1 (PDK1), nuclear gene encoding mitochondrial protein, mRNA. 317 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(117;0.12) CCTTAGATGAGTGACCGAGGA 0.453000 Autosomal Dominant Polycystic Kidney Disease 41 4 0 0 0.009096 0 0 DSG2 1829 broad.mit.edu 37 18 29102104 29102104 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr18:29102104G>A uc002kwu.4 + 5 770 c.582G>A c.(580-582)tcG>tcA p.S194S NM_001943 NP_001934 Q14126 DSG2_HUMAN Homo sapiens desmoglein 2 (DSG2), mRNA. 194 Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.S194S(2) breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) CCCTGAATTCGAAAATTTCCT 0.368000 25 5 0 0 0.021553 0 0 ZNF560 147741 broad.mit.edu 37 19 9578257 9578257 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:9578257C>T uc002mlp.1 - 9 1576 c.1366G>A c.(1366-1368)Gga>Aga p.G456R ZNF560_uc010dwr.1_Missense_Mutation_p.G350R NM_152476 NP_689689 Q96MR9 ZN560_HUMAN Homo sapiens zinc finger protein 560 (ZNF560), mRNA. 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 GGCTTCTCTCCATTATGAACT 0.398000 174 33 0 0 0.017118 0 0 DNAH10 196385 broad.mit.edu 37 12 124323032 124323032 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:124323032G>A uc001uft.4 + 27 4603 c.4578G>A c.(4576-4578)gtG>gtA p.V1526V NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 1526 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AAGACCCCGTGATCAAGAGGT 0.547000 15 4 0 0 0.009096 0 0 ODZ1 10178 broad.mit.edu 37 X 123699396 123699396 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:123699396C>T uc010nqy.3 - 11 2156 c.2092G>A c.(2092-2094)Gag>Aag p.E698K ODZ1_uc011muj.2_Missense_Mutation_p.E697K|ODZ1_uc004euj.3_Missense_Mutation_p.E698K NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 698 EGF-like 6. immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 CTACCACACTCCATGGTACAC 0.408000 29 7 0 0 0.006214 0 0 SPANXN5 494197 broad.mit.edu 37 X 52825576 52825576 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:52825576C>T uc004drc.1 - 1 171 c.171G>A c.(169-171)agG>agA p.R57R NM_001009616 NP_001009616 Q5MJ07 SPXN5_HUMAN Homo sapiens SPANX family, member N5 (SPANXN5), mRNA. 57 large_intestine(1)|lung(5)|skin(2) 8 Ovarian(276;0.236) TCTTAGTCTTCCTGTAGCACA 0.428000 52 6 0 0 0.021553 0 0 SBSN 374897 broad.mit.edu 37 19 36017757 36017757 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:36017757G>A uc002oad.2 - 0 1497 c.1427C>T c.(1426-1428)gCg>gTg p.A476V SBSN_uc002oae.2_Missense_Mutation_p.A133V|SBSN_uc021usp.1_Intron NM_001166034 NP_001159506 Q6UWP8 SBSN_HUMAN Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA. 133 extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCCTTGGACCGCTTTGTCTGC 0.607000 16 12 0 0 0.013537 0 0 SALL4 57167 broad.mit.edu 37 20 50407356 50407356 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr20:50407356C>T uc002xwh.4 - 1 1767 c.1666G>A c.(1666-1668)Gag>Aag p.E556K SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA. 556 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TCAATGTTCTCCACCAACTGC 0.542000 102 21 0 0 0.014323 0 0 SMARCA5 8467 broad.mit.edu 37 4 144466732 144466732 + Missense_Mutation SNP A C C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:144466732A>C uc003ijg.3 + 17 2855 c.2393A>C c.(2392-2394)tAc>tCc p.Y798S NM_003601 NP_003592 O60264 SMCA5_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA. 798 CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) ACTATTGGGTACAAGGTAATT 0.318000 39 4 0 0 0.009096 0 0 SPOCD1 90853 broad.mit.edu 37 1 32264052 32264052 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:32264052G>A uc001bts.1 - 7 2077 c.2019C>T c.(2017-2019)ccC>ccT p.P673P SPOCD1_uc001btu.3_Silent_p.P673P|SPOCD1_uc001btv.3_Silent_p.P166P|SPOCD1_uc021oks.1_5'UTR|SPOCD1_uc001btw.1_5'UTR NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA. 673 TFIIS central. transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) CCAGGTTCCTGGGGTCCCGCA 0.617000 37 14 0 0 0.004990 0 0 AEBP1 165 broad.mit.edu 37 7 44151192 44151192 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:44151192C>T uc003tkb.3 + 14 2108 c.1803C>T c.(1801-1803)gcC>gcT p.A601A AEBP1_uc003tkc.4_Silent_p.A176A|AEBP1_uc003tkd.3_5'UTR NM_001129 NP_001120 Q8IUX7 AEBP1_HUMAN Homo sapiens AE binding protein 1 (AEBP1), mRNA. 601 Interaction with MAPK1 and MAPK3 (By similarity).|Interaction with PTEN (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 AGATCTATGCCATGGAGATCT 0.617000 37 5 0 0 0.021553 0 0 TTN 7273 broad.mit.edu 37 2 179441825 179441825 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:179441825C>T uc021vsy.1 - 272 61758 c.61533G>A c.(61531-61533)aaG>aaA p.K20511K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.K14206K|TTN_uc021vta.1_Silent_p.K14139K|TTN_uc021vtb.1_Silent_p.K14014K|AX746670_uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 21438 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGTTTCTCTCTTTTCAAGTA 0.423000 61 14 0 0 0.016723 0 0 NBEA 26960 broad.mit.edu 37 13 36223797 36223797 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr13:36223797C>T uc021rid.1 + 50 8247 c.7713C>T c.(7711-7713)ttC>ttT p.F2571F NBEA_uc021ric.1_Silent_p.F2568F|NBEA_uc010abi.3_Silent_p.F1227F|NBEA_uc010tee.1_Silent_p.F364F|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Silent_p.F364F|NBEA_uc001uvd.3_Silent_p.F149F NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA. 2571 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) AACAGTGTTTCCTTCCACAGA 0.418000 146 32 0 0 0.017118 0 0 IL2RG 3561 broad.mit.edu 37 X 70328136 70328136 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:70328136C>T uc004dyw.2 - 6 1007 c.915G>A c.(913-915)ggG>ggA p.G305G CXorf65_uc011mpo.2_5'Flank|CXorf65_uc011mpp.2_5'Flank|IL2RG_uc004dyv.2_Silent_p.G34G|IL2RG_uc004dyx.2_Silent_p.G115G NM_000206 NP_000197 P31785 IL2RG_HUMAN Homo sapiens interleukin 2 receptor, gamma (IL2RG), mRNA. 305 immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms external side of plasma membrane|integral to plasma membrane cytokine receptor activity|interleukin-2 binding breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 15 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) CCGAAAAGTTCCCGTGGTATT 0.537000 Severe Combined Immunodeficiency, X-linked 50 5 0 0 0.001984 0 0 MRPS15 64960 broad.mit.edu 37 1 36921790 36921790 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:36921790G>A uc001cas.2 - 6 798 c.634C>T c.(634-636)Cgg>Tgg p.R212W NM_031280 NP_112570 P82914 RT15_HUMAN Homo sapiens mitochondrial ribosomal protein S15 (MRPS15), nuclear gene encoding mitochondrial protein, mRNA. 212 translation mitochondrial small ribosomal subunit|nuclear membrane structural constituent of ribosome breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1) 14 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) ACTCGTACCCGAATGCACAGA 0.547000 39 6 0 0 0.003080 0 0 CHD4 1108 broad.mit.edu 37 12 6702357 6702357 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:6702357G>A uc001qpo.3 - 16 2716 c.2552C>T c.(2551-2553)tCc>tTc p.S851F CHD4_uc001qpn.3_Missense_Mutation_p.S844F|CHD4_uc001qpp.3_Missense_Mutation_p.S848F NM_001273 NP_001264 Q14839 CHD4_HUMAN Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA. 851 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NuRD complex|microtubule organizing center ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CAATTCATAGGATGTCAGCAG 0.468000 51 6 0 0 0.001984 0 0 CRISP1 167 broad.mit.edu 37 6 49815925 49815925 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:49815925G>A uc003ozw.2 - 3 362 c.283C>T c.(283-285)Cca>Tca p.P95S CRISP1_uc003ozx.2_Missense_Mutation_p.P95S|CRISP1_uc021zaj.1_Missense_Mutation_p.P95S NM_001131 NP_001192149 P54107 CRIS1_HUMAN Homo sapiens cysteine-rich secretory protein 1 (CRISP1), transcript variant 1, mRNA. 95 fusion of sperm to egg plasma membrane extracellular space endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0358) CACTTACTTGGAAGTCTCCTC 0.373000 73 15 0 0 0.024245 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110477438 110477438 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:110477438G>A uc003yne.3 + 48 8481 c.8377G>A c.(8377-8379)Gaa>Aaa p.E2793K NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 2793 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CTGGGAACATGAAATGGTAAT 0.388000 HNSCC(38;0.096) 30 5 0 0 0.003080 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60351423 60351423 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:60351423G>A uc002izq.2 - 1 166 c.54C>T c.(52-54)atC>atT p.I18I TBC1D3P2_uc010woz.2_Non-coding_Transcript Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA. breast(2)|kidney(1)|lung(2) 5 ATTTCATAATGATGTCCTCTC 0.532000 243 35 0 0 0.021022 0 0 IGDCC4 57722 broad.mit.edu 37 15 65682535 65682535 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr15:65682535G>A uc002aou.1 - 12 2576 c.2366C>T c.(2365-2367)cCc>cTc p.P789L IGDCC4_uc002aot.1_Missense_Mutation_p.P377L NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA. 789 Fibronectin type-III 4. integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 GAGCCCCCAGGGGCTGAAGCG 0.517000 32 11 0 0 0.013537 0 0 DCAF6 55827 broad.mit.edu 37 1 168012370 168012370 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:168012370G>A uc001gew.3 + 11 1957 c.1604G>A c.(1603-1605)aGt>aAt p.S535N DCAF6_uc001gex.3_Missense_Mutation_p.S612N|DCAF6_uc010plk.2_Missense_Mutation_p.S581N|DCAF6_uc001gev.3_Missense_Mutation_p.S555N|DCAF6_uc001gey.3_Missense_Mutation_p.S408N|DCAF6_uc001gez.3_5'UTR NM_001017977 NP_001017977 Q58WW2 DCAF6_HUMAN Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA. 535 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity p.S535C(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 GAAGGAGACAGTGAAACAAGT 0.408000 37 11 0 0 0.010729 0 0 ZIM3 114026 broad.mit.edu 37 19 57646858 57646858 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:57646858C>T uc002qnz.1 - 4 1233 c.847G>A c.(847-849)Gaa>Aaa p.E283K NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA. 283 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTCTCACATTCATTACACTGA 0.383000 86 19 0 0 0.008871 0 0 MRPL4 51073 broad.mit.edu 37 19 10367430 10367430 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:10367430G>A uc002mnm.3 + 5 528 c.374G>A c.(373-375)cGg>cAg p.R125Q MRPL4_uc002mnn.3_Missense_Mutation_p.R125Q|MRPL4_uc002mno.3_Missense_Mutation_p.R125Q NM_146387 NP_666499 Q9BYD3 RM04_HUMAN Homo sapiens mitochondrial ribosomal protein L4 (MRPL4), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 125 translation mitochondrion|ribosome structural constituent of ribosome breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 Renal(1328;0.0112) OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06) Lung(535;0.00705) GGCGGTGGCCGGAAGCCTTGG 0.687000 106 4 0 0 0.009096 0 0 LPPR2 64748 broad.mit.edu 37 19 11474874 11474875 + Missense_Mutation DNP GG AA AA TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:11474874_11474875GG>AA uc002mrf.2 + 8 1302_1303 c.926_927GG>AA c.(925-927)cgg>cAA p.R309Q LPPR2_uc002mre.2_Missense_Mutation_p.G329N|LPPR2_uc010dxy.2_Missense_Mutation_p.R141Q NM_001170635 NP_001164106 Q96GM1 LPPR2_HUMAN Homo sapiens lipid phosphate phosphatase-related protein type 2 (LPPR2), transcript variant 2, mRNA. 170 integral to membrane phosphatidate phosphatase activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 6 ACACCGGCACGGCTCACCCCAT 0.644000 95 13 0 0 0.004672 0 0 RXFP2 122042 broad.mit.edu 37 13 32366091 32366091 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr13:32366091G>A uc001utt.3 + 14 1365 c.1294G>A c.(1294-1296)Gga>Aga p.G432R RXFP2_uc010aba.3_Missense_Mutation_p.G408R NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA. 432 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TACCTGCTTTGGAAATCTTTT 0.373000 41 5 0 0 0.021553 0 0 DLD 1738 broad.mit.edu 37 7 107558469 107558469 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:107558469C>T uc003vet.3 + 11 1447 c.1337C>T c.(1336-1338)tCg>tTg p.S446L DLD_uc011kmg.2_Missense_Mutation_p.S398L|DLD_uc011kmh.2_Missense_Mutation_p.S423L|DLD_uc011kmi.2_Missense_Mutation_p.S347L NM_000108 NP_000099 P09622 DLDH_HUMAN Homo sapiens dihydrolipoamide dehydrogenase (DLD), mRNA. 446 branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle mitochondrial matrix dihydrolipoyl dehydrogenase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1) 20 NADH(DB00157) GGGCAGAAATCGACAGACAGA 0.408000 51 11 0 0 0.008291 0 0 MTMR4 9110 broad.mit.edu 37 17 56581150 56581150 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:56581150G>A uc002iwj.2 - 14 1876 c.1766C>T c.(1765-1767)tCc>tTc p.S589F NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN Homo sapiens myotubularin related protein 4 (MTMR4), mRNA. 589 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGCCACTGGGGAAAGGTAAAG 0.527000 82 25 0 0 0.021523 0 0 IL1RL1 9173 broad.mit.edu 37 2 102959872 102959872 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:102959872C>T uc002tbu.1 + 7 1238 c.967C>T c.(967-969)Cca>Tca p.P323S IL1RL1_uc010ywa.2_Missense_Mutation_p.P206S|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.P323S NM_016232 NP_057316 Q01638 ILRL1_HUMAN Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA. 323 innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 TAGGAAAAATCCAAGTAAGGA 0.448000 94 15 0 0 0.006122 0 0 FBXO31 79791 broad.mit.edu 37 16 87364906 87364906 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr16:87364906G>A uc002fjw.3 - 8 1652 c.1608C>T c.(1606-1608)tcC>tcT p.S536S FBXO31_uc010vot.2_Silent_p.S364S|FBXO31_uc002fjv.3_Silent_p.S428S NM_024735 NP_079011 Q5XUX0 FBX31_HUMAN Homo sapiens F-box protein 31 (FBXO31), mRNA. 536 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint SCF ubiquitin ligase complex cyclin binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0272) AGGAGGTGAGGGACTGAATGT 0.582000 22 8 0 0 0.003080 0 0 KPNA2 3838 broad.mit.edu 37 17 66040459 66040459 + Missense_Mutation SNP A C C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:66040459A>C uc002jgk.3 + 8 1319 c.1187A>C c.(1186-1188)gAa>gCa p.E396A KPNA2_uc002jgl.3_Missense_Mutation_p.E396A NM_002266 NP_002257 P52292 IMA2_HUMAN Homo sapiens karyopherin alpha 2 (RAG cohort 1, importin alpha 1) (KPNA2), mRNA. 396 NLS binding site (minor) (By similarity). DNA metabolic process|G2 phase of mitotic cell cycle|M phase specific microtubule process|NLS-bearing substrate import into nucleus|interspecies interaction between organisms|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2) 22 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) ACACAAAAGGAAGCTGTGTGG 0.378000 103 35 0 0 0.023175 0 0 ABCC8 6833 broad.mit.edu 37 11 17491762 17491762 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr11:17491762C>T uc001mnc.3 - 2 424 c.298G>A c.(298-300)Gaa>Aaa p.E100K ABCC8_uc010rcy.1_Missense_Mutation_p.E100K|ABCC8_uc021qej.1_Non-coding_Transcript NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 100 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) TGGTGGGATTCGGTCACCCTG 0.527000 188 70 0 0 0.014410 0 0 LGSN 51557 broad.mit.edu 37 6 63990239 63990239 + Missense_Mutation SNP T G G TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:63990239T>G uc003peh.3 - 3 1251 c.1217A>C c.(1216-1218)gAa>gCa p.E406A LGSN_uc003pei.3_3'UTR NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA. 406 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) TAGTTTATTTTCTATCCGGGT 0.448000 70 22 0 0 0.012319 0 0 CHID1 66005 broad.mit.edu 37 11 902963 902963 + Splice_Site SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr11:902963G>A uc010qwu.1 - 3 464 c.351_splice c.e3+1 p.P117_splice CHID1_uc010qwv.2_Splice_Site_p.P148_splice|CHID1_uc001lsn.3_Splice_Site_p.P112_splice|CHID1_uc001lso.3_Splice_Site_p.P87_splice|CHID1_uc001lsm.3_Splice_Site_p.P87_splice|CHID1_uc001lsp.3_Splice_Site_p.P87_splice|CHID1_uc010qww.2_Splice_Site_p.P87_splice NM_023947 NP_076436 Q9BWS9 CHID1_HUMAN Homo sapiens chitinase domain containing 1 (CHID1), transcript variant 3, mRNA. 87 chitin catabolic process|innate immune response extracellular region|lysosome cation binding|chitinase activity endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 13 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735) CCAACTTACTGGAGTGACATA 0.607000 16 5 0 0 0.014758 0 0 EWSR1 2130 broad.mit.edu 37 22 29694811 29694811 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr22:29694811C>T uc003aet.3 + 13 1834 c.1506C>T c.(1504-1506)ccC>ccT p.P502P EWSR1_uc003aev.3_Silent_p.P507P|EWSR1_uc003aex.3_Silent_p.P501P|EWSR1_uc003aew.3_Silent_p.P446P|EWSR1_uc003aey.3_Silent_p.P297P|EWSR1_uc003aez.3_Silent_p.P163P NM_005243 NP_005234 Q01844 EWS_HUMAN Homo sapiens Ewing sarcoma breakpoint region 1 (EWSR1), transcript variant 2, mRNA. 502 Arg/Gly/Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane RNA binding|calmodulin binding|nucleotide binding|zinc ion binding p.G501A(1) EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CAAGAGGACCCCGGGGTTCCC 0.602000 T """FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1""" """Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma""" 97 13 0 0 0.024245 0 0 ZAN 7455 broad.mit.edu 37 7 100334225 100334225 + Missense_Mutation SNP G C C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:100334225G>C uc003uwj.3 + 3 391 c.226G>C c.(226-228)Ggg>Cgg p.G76R ZAN_uc003uwk.3_Missense_Mutation_p.G76R|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 76 MAM 1. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CGGCTCCACCGGGGCCCCCGG 0.642000 21 14 0 0 0.024245 0 0 TNR 7143 broad.mit.edu 37 1 175335040 175335040 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:175335040C>T uc001gkp.1 - 8 2369 c.2288G>A c.(2287-2289)aGc>aAc p.S763N TNR_uc009wwu.1_Missense_Mutation_p.S763N NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 763 Fibronectin type-III 5. 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) GGACTCCAAGCTCTGCTGCCG 0.532000 66 18 0 0 0.008871 0 0 USH2A 7399 broad.mit.edu 37 1 216465538 216465538 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:216465538C>T uc001hku.1 - 9 2206 c.1819G>A c.(1819-1821)Gat>Aat p.D607N USH2A_uc001hkv.3_Missense_Mutation_p.D607N NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 607 Laminin EGF-like 2. 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) TGCTCACAATCATCACAAACT 0.403000 HNSCC(13;0.011) 42 9 0 0 0.006214 0 0 CDH6 1004 broad.mit.edu 37 5 31305281 31305281 + Splice_Site SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:31305281C>T uc003jhe.2 + 7 1360 c.1000_splice c.e7-1 p.L334_splice CDH6_uc003jhd.2_Splice_Site_p.L334_splice NM_004932 NP_004923 P55285 CADH6_HUMAN Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA. 334 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CAACCTCAAGCTCTTGGACTT 0.423000 52 19 0 0 0.008871 0 0 GBP3 2635 broad.mit.edu 37 1 89480263 89480263 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:89480263C>T uc001dmt.3 - 3 600 c.395G>A c.(394-396)gGa>gAa p.G132E GBP3_uc010oss.2_Missense_Mutation_p.G53E|GBP3_uc001dmu.3_5'UTR|GBP3_uc001dmv.3_Non-coding_Transcript|GBP3_uc021opp.1_Missense_Mutation_p.G132E NM_018284 NP_060754 Q9H0R5 GBP3_HUMAN Homo sapiens guanylate binding protein 3 (GBP3), mRNA. 132 integral to membrane GTP binding|GTPase activity breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) GTTGATGGTTCCCATGCTATT 0.522000 76 26 0 0 0.007291 0 0 MFSD4 148808 broad.mit.edu 37 1 205554035 205554035 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:205554035G>A uc001hcv.4 + 4 977 c.891G>A c.(889-891)agG>agA p.R297R MFSD4_uc010prk.2_Silent_p.R210R|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Silent_p.R242R NM_181644 NP_857595 Q8N468 MFSD4_HUMAN Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA. 297 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) GCTGCCAAAGGAAGAACCTCA 0.587000 OREG0014158 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 91 26 0 0 0.007291 0 0 PBXIP1 57326 broad.mit.edu 37 1 154919184 154919184 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:154919184G>A uc001ffr.3 - 9 1025 c.966C>T c.(964-966)gcC>gcT p.A322A PBXIP1_uc001ffs.3_Silent_p.A293A|PBXIP1_uc010pep.2_Silent_p.A167A NM_020524 NP_065385 Q96AQ6 PBIP1_HUMAN Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA. 322 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity p.A322V(1) breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) CCCGCTGGAAGGCTTCGCCCT 0.667000 23 5 0 0 0.014758 0 0 TSGA10 80705 broad.mit.edu 37 2 99725886 99725886 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:99725886G>A uc002szg.4 - 3 645 c.17C>T c.(16-18)tCt>tTt p.S6F TSGA10_uc002szh.4_Missense_Mutation_p.S6F|TSGA10_uc002szi.4_Missense_Mutation_p.S6F|TSGA10_uc010fin.1_Missense_Mutation_p.S6F|TSGA10_uc010yvn.1_Missense_Mutation_p.S6F NM_182911 NP_878915 Q9BZW7 TSG10_HUMAN Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA. 6 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 TGGACTTTTAGACCTACTTCG 0.398000 41 12 0 0 0.016723 0 0 OR8D1 283159 broad.mit.edu 37 11 124180174 124180174 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr11:124180174C>T uc010sag.2 - 0 489 c.489G>A c.(487-489)atG>atA p.M163I NM_001002917 NP_001002917 Q8WZ84 OR8D1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA. 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) ACAGTTTCATCATGGCACTTG 0.468000 14 4 0 0 0.014758 0 0 PMS2CL 441194 broad.mit.edu 37 7 6777288 6777288 + Missense_Mutation SNP A C C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:6777288A>C uc011jxb.1 + 4 1342 c.568A>C c.(568-570)Aca>Cca p.T190P PMS2CL_uc003squ.3_Non-coding_Transcript|PMS2CL_uc003sqv.1_Non-coding_Transcript Homo sapiens PMS2 C-terminal like pseudogene (PMS2CL), non-coding RNA. ATCCCCAAACACAAAAGTGTT 0.393000 49 8 0 0 0.003080 0 0 MTMR4 9110 broad.mit.edu 37 17 56573397 56573397 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:56573397G>A uc002iwj.2 - 15 2216 c.2106C>T c.(2104-2106)taC>taT p.Y702Y NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN Homo sapiens myotubularin related protein 4 (MTMR4), mRNA. 702 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) TAAGCAGTTTGTAACTTGGAG 0.483000 202 26 0 0 0.007291 0 0 C1orf114 57821 broad.mit.edu 37 1 169388387 169388387 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:169388387C>T uc001gga.1 - 3 1247 c.1079G>A c.(1078-1080)cGa>cAa p.R360Q C1orf114_uc001gfz.1_Missense_Mutation_p.R360Q|C1orf114_uc009wvq.1_Missense_Mutation_p.R360Q|C1orf114_uc001ggb.3_Missense_Mutation_p.R360Q NM_021179 NP_067002 Q5TID7 CA114_HUMAN Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA. 360 p.R360Q(2)|p.R360*(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3) 22 all_hematologic(923;0.208) TTCTATTTTTCGTCGCTCTTC 0.303000 18 5 0 0 0.014758 0 0 GPX1 2876 broad.mit.edu 37 3 49395482 49395482 + Missense_Mutation SNP G C C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:49395482G>C uc021wxw.1 - 0 310 c.230C>G c.(229-231)cCg>cGg p.P77R GPX1_uc021wxx.1_Missense_Mutation_p.P77R NM_000581 NP_000572 P07203 GPX1_HUMAN Homo sapiens glutathione peroxidase 1 (GPX1), transcript variant 1, mRNA. 77 UV protection|anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion cytosol|mitochondrion SH3 domain binding|endopeptidase inhibitor activity|glutathione peroxidase activity breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CTGGTTGCACGGGAAGCCGAG 0.726000 28 3 0 0 0.009096 0 0 EDC4 23644 broad.mit.edu 37 16 67910468 67910468 + Missense_Mutation SNP C G G TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr16:67910468C>G uc002eur.3 + 2 556 c.317C>G c.(316-318)tCt>tGt p.S106C EDC4_uc010cer.3_5'UTR|EDC4_uc010vkg.1_Missense_Mutation_p.S38C|EDC4_uc002eus.3_5'Flank NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA. 106 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) AGCAGTGACTCTAGCATTTCA 0.527000 37 3 0 0 0.014758 0 0 TP53 7157 broad.mit.edu 37 17 7578555 7578555 + Splice_Site SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:7578555C>T uc002gim.2 - 5 570 c.376_splice c.e5-1 p.Y126_splice TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.3_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.2_Splice_Site_p.Y87_splice NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 126 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation). DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAGGGGAGTACTGTAGGAAGA 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 11 6 0 0 0.021553 0 0 ZNF831 128611 broad.mit.edu 37 20 57829475 57829475 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr20:57829475G>A uc002yan.3 + 4 4711 c.4711G>A c.(4711-4713)Gct>Act p.A1571T NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 1571 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) TGAAATACCAGCTTCAGGACC 0.483000 56 10 0 0 0.008291 0 0 ARSF 416 broad.mit.edu 37 X 3030371 3030371 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:3030371C>T uc022brz.1 + 10 1683 c.1547C>T c.(1546-1548)tCc>tTc p.S516F ARSF_uc004cre.2_Missense_Mutation_p.S516F|ARSF_uc004crf.2_Missense_Mutation_p.S516F NM_001201538 NP_001188467 P54793 ARSF_HUMAN Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA. 516 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CCCTCAGAGTCCACACCCCTG 0.547000 75 9 0 0 0.006214 0 0 ATXN1 6310 broad.mit.edu 37 6 16327065 16327065 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:16327065G>A uc003nbt.3 - 7 2448 c.1477C>T c.(1477-1479)Ccg>Tcg p.P493S ATXN1_uc010jpi.3_Missense_Mutation_p.P493S|ATXN1_uc010jpj.1_Intron NM_000332 NP_001121636 P54253 ATX1_HUMAN Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA. 493 RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CTGCCGACCGGGATGAGCAGG 0.667000 148 26 0 0 0.006320 0 0 OR4K17 390436 broad.mit.edu 37 14 20586336 20586336 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr14:20586336G>A uc001vwo.1 + 0 771 c.771G>A c.(769-771)aaG>aaA p.K257K NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA. 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) TAACCATTAAGAACCACTCTC 0.418000 50 16 0 0 0.004990 0 0 C6 729 broad.mit.edu 37 5 41155163 41155163 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:41155163G>A uc003jmk.2 - 13 2222 c.2012C>T c.(2011-2013)tCa>tTa p.S671L C6_uc003jml.1_Missense_Mutation_p.S671L NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 671 C5b-binding domain.|Sushi 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) AGTAAGGCATGAAATTTCAAC 0.398000 41 10 0 0 0.006214 0 0 COL11A1 1301 broad.mit.edu 37 1 103471395 103471395 + Splice_Site SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:103471395C>T uc001dum.3 - 18 2199 c.1881_splice c.e18+1 p.R627_splice COL11A1_uc001duk.3_Splice_Site|COL11A1_uc001dul.3_Splice_Site_p.R615_splice|COL11A1_uc001dun.3_Splice_Site_p.R576_splice|COL11A1_uc009weh.3_Splice_Site_p.R499_splice NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 615 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GTATCTTACCCTGTGACCTTT 0.343000 72 22 0 0 0.018920 0 0 RPRD2 23248 broad.mit.edu 37 1 150444375 150444375 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:150444375C>T uc009wlr.3 + 10 3152 c.2951C>T c.(2950-2952)cCc>cTc p.P984L RPRD2_uc010pcc.1_Silent_p.S911S|RPRD2_uc001eup.4_Missense_Mutation_p.P958L NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA. 984 protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CTTGCCGCTCCCACGGGTCAC 0.547000 233 52 0 0 0.014410 0 0 CD1A 909 broad.mit.edu 37 1 158224917 158224917 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:158224917C>T uc001frt.3 + 1 635 c.102C>T c.(100-102)tcC>tcT p.S34S CD1A_uc021pbk.1_5'Flank NM_001763 NP_001754 P06126 CD1A_HUMAN Homo sapiens CD1a molecule (CD1A), mRNA. 34 antigen processing and presentation|immune response MHC class I protein complex|endosome membrane|integral to plasma membrane p.A33T(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) GGATCGCATCCTTTTACAACC 0.478000 98 14 0 0 0.020292 0 0 ZNF701 55762 broad.mit.edu 37 19 53086410 53086410 + Missense_Mutation SNP T A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:53086410T>A uc010ydn.2 + 4 1359 c.1296T>A c.(1294-1296)gaT>gaA p.D432E ZNF701_uc002pzs.2_Missense_Mutation_p.D366E|ZNF701_uc021uyw.1_Missense_Mutation_p.D432E NM_018260 NP_060730 Q9NV72 ZN701_HUMAN Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA. 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(6) 14 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) TCAGACGTGATTCACACCTGG 0.398000 46 7 0 0 0.004482 0 0 FLNC 2318 broad.mit.edu 37 7 128480100 128480100 + Missense_Mutation SNP G C C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:128480100G>C uc003vnz.4 + 8 1644 c.1435G>C c.(1435-1437)Gcc>Ccc p.A479P FLNC_uc003voa.4_Missense_Mutation_p.A479P NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 479 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CGCCTGCCGCGCCTCTGGGCG 0.642000 116 28 0 0 0.013726 0 0 GRIA2 2891 broad.mit.edu 37 4 158254097 158254097 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:158254097C>T uc003ipm.4 + 6 1468 c.1009C>T c.(1009-1011)Ccc>Tcc p.P337S GRIA2_uc011cit.2_Missense_Mutation_p.P290S|GRIA2_uc003ipl.4_Missense_Mutation_p.P337S|GRIA2_uc003ipk.4_Missense_Mutation_p.P290S|GRIA2_uc010iqh.1_Non-coding_Transcript NM_001083619 NP_001077088 P42262 GRIA2_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA. 337 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) CCCAGCAGTGCCCTGGGGACA 0.458000 41 8 0 0 0.003080 0 0 SULF1 23213 broad.mit.edu 37 8 70539458 70539458 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:70539458C>T uc003xyg.2 + 14 2425 c.1864C>T c.(1864-1866)Ccc>Tcc p.P622S SULF1_uc010lza.1_Missense_Mutation_p.P622S|SULF1_uc003xyd.2_Missense_Mutation_p.P622S|SULF1_uc003xye.2_Missense_Mutation_p.P622S|SULF1_uc003xyf.2_Missense_Mutation_p.P622S|SULF1_uc003xyh.1_Non-coding_Transcript|SULF1_uc003xyi.1_5'Flank NM_001128206 NP_055985 Q8IWU6 SULF1_HUMAN Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA. 622 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway Golgi stack|cell surface|endoplasmic reticulum|extracellular space arylsulfatase activity|calcium ion binding p.P622P(2) breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TTTTATTCTTCCCAATGACTC 0.378000 17 4 0 0 0.014758 0 0 LOC100128164 100128164 broad.mit.edu 37 3 169664277 169664277 + RNA SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:169664277G>A uc011bpp.2 - 1 c.3526C>T Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA. TGTTGCACAGGATCTTGTTGT 0.517000 37 12 0 0 0.013537 0 0 ESX1 80712 broad.mit.edu 37 X 103495484 103495484 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:103495484C>T uc004ely.3 - 3 715 c.646G>A c.(646-648)Gac>Aac p.D216N NM_153448 NP_703149 Q8N693 ESX1_HUMAN Homo sapiens ESX homeobox 1 (ESX1), mRNA. 216 negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 AAGAACATGTCCAAAGGGTGG 0.507000 114 16 0 0 0.028581 0 0 GSPT2 23708 broad.mit.edu 37 X 51488447 51488447 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:51488447C>T uc004dpl.3 + 0 1967 c.1725C>T c.(1723-1725)ttC>ttT p.F575F NM_018094 NP_060564 Q8IYD1 ERF3B_HUMAN Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA. 575 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Ovarian(276;0.236) GACCCCGCTTCGTGAAACAAG 0.413000 44 10 0 0 0.008291 0 0 GRIA1 2890 broad.mit.edu 37 5 153190641 153190642 + Missense_Mutation DNP CC TT TT TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:153190641_153190642CC>TT uc011dcy.2 + 15 2634_2635 c.2607_2608CC>TT c.(2605-2610)ctcccc>ctTTcc p.P870S GRIA1_uc003lva.4_Missense_Mutation_p.P860S|GRIA1_uc003luy.4_Missense_Mutation_p.P860S|GRIA1_uc003luz.4_Missense_Mutation_p.P765S|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.P780S|GRIA1_uc011dcx.2_Missense_Mutation_p.P791S|GRIA1_uc011dcz.2_Missense_Mutation_p.P870S NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 860 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CATCGACCCTCCCCCGCAACAG 0.584000 53 8 0 0 0.004672 0 0 MPP7 143098 broad.mit.edu 37 10 28409131 28409131 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:28409131G>A uc001iua.1 - 11 1283 c.879C>T c.(877-879)ttC>ttT p.F293F MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Silent_p.F293F|MPP7_uc009xla.2_Silent_p.F293F|MPP7_uc010qdv.1_Non-coding_Transcript NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA. 293 SH3. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 ACCTTTCCTGGAAATGCTTTG 0.438000 33 8 0 0 0.003080 0 0 KRTAP19-8 728299 broad.mit.edu 37 21 32410639 32410639 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr21:32410639C>T uc010glt.3 - 0 157 c.124G>A c.(124-126)Gga>Aga p.G42R NM_001099219 NP_001092689 Q3LI54 KR198_HUMAN Homo sapiens keratin associated protein 19-8 (KRTAP19-8), mRNA. 42 intermediate filament endometrium(2)|upper_aerodigestive_tract(1) 3 CCATAGCCTCCGTAGCCACAG 0.532000 76 12 0 0 0.020292 0 0 DDX20 11218 broad.mit.edu 37 1 112309444 112309444 + Nonsense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:112309444C>T uc001ebs.3 + 10 2755 c.2398C>T c.(2398-2400)Cag>Tag p.Q800* DDX20_uc010owf.2_Nonsense_Mutation_p.Q562*|DDX20_uc001ebt.3_Nonsense_Mutation_p.Q408* NM_007204 NP_009135 Q9UHI6 DDX20_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 (DDX20), mRNA. 800 assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1) 21 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTGGAATGCTCAGAGACATCC 0.393000 43 12 0 0 0.016723 0 0 SEMA3E 9723 broad.mit.edu 37 7 82997096 82997096 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:82997096C>T uc003uhy.2 - 16 2755 c.2134G>A c.(2134-2136)Gaa>Aaa p.E712K SEMA3E_uc022agy.1_Missense_Mutation_p.E652K NM_012431 NP_001171600 O15041 SEM3E_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA. 712 axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) TGCAAGAATTCCTTGTACCAT 0.458000 82 19 0 0 0.007413 0 0 PDGFRA 5156 broad.mit.edu 37 4 55153703 55153703 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:55153703C>T uc003han.4 + 18 3000 c.2669C>T c.(2668-2670)tCc>tTc p.S890F PDGFRA_uc003haa.3_Missense_Mutation_p.S650F NM_006206 NP_006197 P16234 PGFRA_HUMAN Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA. 890 Protein kinase. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.S890F(2) NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GAGATCTTTTCCCTTGGTATG 0.483000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 54 20 0 0 0.008871 0 0 PENK 5179 broad.mit.edu 37 8 57354406 57354406 + Missense_Mutation SNP G A A rs148519224 TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:57354406G>A uc003xsz.2 - 1 310 c.229C>T c.(229-231)Cct>Tct p.P77S PENK_uc003xta.3_Missense_Mutation_p.P77S NM_006211 NP_006202 P01210 PENK_HUMAN Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA. 77 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity p.P77S(2) central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) CCATCTTGAGGAAGCTCTGGT 0.483000 87 14 0 0 0.004990 0 0 ARL9 132946 broad.mit.edu 37 4 57384993 57384993 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:57384993C>T uc003hby.1 + 2 614 c.166C>T c.(166-168)Cct>Tct p.P56S NM_206919 NP_996802 Q6T311 ARL9_HUMAN Homo sapiens ADP-ribosylation factor-like 9 (ARL9), mRNA. 120 GTP binding lung(2) 2 Glioma(25;0.08)|all_neural(26;0.101) CCCAGTACTTCCTCTGGTTGT 0.378000 26 8 0 0 0.003080 0 0 DNAH8 1769 broad.mit.edu 37 6 38891880 38891880 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:38891880G>A uc021yzh.1 + 72 11013 c.10904G>A c.(10903-10905)cGg>cAg p.R3635Q DNAH8_uc003ooe.2_Missense_Mutation_p.R3418Q|LOC100131047_uc003oof.2_Intron NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TTGAGAGCACGGAAAATTCCT 0.373000 60 14 0 0 0.016723 0 0 LOC390660 390660 broad.mit.edu 37 15 82620400 82620400 + RNA SNP T C C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr15:82620400T>C uc021ssl.1 + 18 c.3880T>C LOC390660_uc010bls.1_Non-coding_Transcript Homo sapiens FLJ00317 protein (LOC390660), non-coding RNA. GACCCAAGGGTCAGCCTGAGT 0.672000 23 3 0 0 0.009096 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 117350 117350 + RNA SNP C A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrGL000205.1:117350C>A uc002kgk.4 + 0 c.728C>A Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. GGCCACCTGGCCTTCTGTGAG 0.577000 38 8 5.18039e-06 5.37964e-06 0.003080 1 0 CACNA1F 778 broad.mit.edu 37 X 49065103 49065103 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:49065103C>T uc004dnb.3 - 42 5090 c.5028G>A c.(5026-5028)ggG>ggA p.G1676G CACNA1F_uc010nip.3_Silent_p.G1665G NM_005183 NP_005174 O60840 CAC1F_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA. 1676 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity p.G1676R(1) autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) ACACAGAAATCCCGGAGCCCC 0.582000 60 7 0 0 0.001984 0 0 DOCK4 9732 broad.mit.edu 37 7 111409609 111409609 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:111409609G>A uc003vfy.3 - 37 4181 c.3912C>T c.(3910-3912)atC>atT p.I1304I DOCK4_uc011kml.2_Silent_p.I140I|DOCK4_uc011kmm.2_Silent_p.I166I|DOCK4_uc003vfw.3_Silent_p.I709I|DOCK4_uc003vfx.3_Silent_p.I1259I NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA. 1259 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase 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) AGTTCTGGATGATGGTGAGGT 0.552000 61 16 0 0 0.006122 0 0 MOG 4340 broad.mit.edu 37 6 29625034 29625034 + Silent SNP C T T rs111812606 TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:29625034C>T uc003nnf.3 + 0 277 c.48C>T c.(46-48)ttC>ttT p.F16F MOG_uc003qzk.2_Silent_p.F16F|MOG_uc010kle.2_Non-coding_Transcript|MOG_uc010klf.2_Non-coding_Transcript|MOG_uc003nmy.2_Silent_p.F16F|MOG_uc003nna.3_Silent_p.F16F|MOG_uc011dlt.2_5'UTR|MOG_uc011dlv.2_Silent_p.F16F|MOG_uc011dlu.2_Silent_p.F16F|MOG_uc003nne.3_Silent_p.F16F|MOG_uc003nng.3_Silent_p.F16F|MOG_uc003nni.3_Silent_p.F16F|MOG_uc003nnh.3_Silent_p.F16F|MOG_uc003nnj.3_Silent_p.F16F|MOG_uc003nnk.3_Silent_p.F16F NM_206809 NP_996532 Q16653 MOG_HUMAN Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA. 16 cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 TCTGCTCCTtcctcctcctcc 0.547000 22 4 0 0 0.009096 0 0 SCAMP3 10067 broad.mit.edu 37 1 155228653 155228653 + Nonsense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:155228653G>A uc001fjs.3 - 4 715 c.481C>T c.(481-483)Cag>Tag p.Q161* SCAMP3_uc001fjt.3_Nonsense_Mutation_p.Q135* NM_005698 NP_005689 O14828 SCAM3_HUMAN Homo sapiens secretory carrier membrane protein 3 (SCAMP3), transcript variant 1, mRNA. 161 post-Golgi vesicle-mediated transport|protein transport integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1) 19 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) ACAGTCTTCTGAAATTCTTGG 0.493000 152 24 0 0 0.018920 0 0 CCNB3 85417 broad.mit.edu 37 X 50053595 50053595 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:50053595G>A uc004dox.4 + 5 2724 c.2426G>A c.(2425-2427)aGc>aAc p.S809N CCNB3_uc004doy.3_Missense_Mutation_p.S809N|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA. 809 cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) GAGGAGCCCAGCATTGAGAAG 0.547000 23 5 0 0 0.014758 0 0 CYP4B1 1580 broad.mit.edu 37 1 47278227 47278227 + Missense_Mutation SNP C A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:47278227C>A uc001cqn.4 + 3 511 c.427C>A c.(427-429)Cct>Act p.P143T CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Missense_Mutation_p.P143T|CYP4B1_uc009vym.3_Missense_Mutation_p.P128T|CYP4B1_uc010omk.2_5'UTR|CYP4B1_uc010oml.1_5'UTR NM_001099772 NP_001093242 P13584 CP4B1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA. 143 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) GCTGCTCACACCTGGCTTTCA 0.587000 61 10 1.76689e-08 1.85386e-08 0.006214 1 0 ZFHX4 79776 broad.mit.edu 37 8 77764324 77764324 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:77764324C>T uc003yau.2 + 9 5554 c.5167C>T c.(5167-5169)Cct>Tct p.P1723S ZFHX4_uc003yaw.1_Missense_Mutation_p.P1678S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 1678 Gln-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P1723T(2) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCCTCATTTTCCTATGACCCC 0.473000 HNSCC(33;0.089) 52 4 0 0 0.009096 0 0 GRIA4 2893 broad.mit.edu 37 11 105769117 105769117 + Missense_Mutation SNP T A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr11:105769117T>A uc001pix.2 + 6 1295 c.849T>A c.(847-849)gaT>gaA p.D283E GRIA4_uc001piu.1_Missense_Mutation_p.D283E|GRIA4_uc001piw.2_Missense_Mutation_p.D283E|GRIA4_uc009yxk.1_Missense_Mutation_p.D283E NM_000829 NP_000820 P48058 GRIA4_HUMAN Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA. 283 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) AGAAACTAGATCAGAGAGAGT 0.343000 19 6 0 0 0.001984 0 0 TBCE 6905 broad.mit.edu 37 1 235577778 235577778 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:235577778G>A uc010pxr.1 + 3 339 c.216G>A c.(214-216)ccG>ccA p.P72P TBCE_uc010pxq.1_Non-coding_Transcript|TBCE_uc001hwz.1_Silent_p.P72P|TBCE_uc001hxa.1_Silent_p.P72P|TBCE_uc001hxb.1_5'UTR NM_003193 NP_003184 Q15813 TBCE_HUMAN Homo sapiens tubulin folding cofactor E (TBCE), transcript variant 2, mRNA. 72 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 14 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) TTATTCGTCCGAACAAGGTAA 0.383000 62 7 0 0 0.004482 0 0 ZDHHC8 29801 broad.mit.edu 37 22 20131078 20131078 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr22:20131078C>T uc002zrr.2 + 9 2032 c.1925C>T c.(1924-1926)tCg>tTg p.S642L ZDHHC8_uc002zrq.3_Missense_Mutation_p.S642L|ZDHHC8_uc010gsa.3_Missense_Mutation_p.S448L NM_001185024 NP_001171953 Q9ULC8 ZDHC8_HUMAN Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA. 642 cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 20 Colorectal(54;0.0993) CCGCGGACGTCGTCCTCCTCC 0.721000 5 4 0 0 0.009096 0 0 CTRC 11330 broad.mit.edu 37 1 15772132 15772132 + Missense_Mutation SNP G A A rs142027137 TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:15772132G>A uc001awi.1 + 6 703 c.680G>A c.(679-681)gGt>gAt p.G227D CTRC_uc001awj.1_Silent_p.R178R NM_007272 NP_009203 Q99895 CTRC_HUMAN Homo sapiens chymotrypsin C (caldecrin) (CTRC), mRNA. 227 Peptidase S1. proteolysis serine-type endopeptidase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1) 13 Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTGGAGAACGGTTCCTGGGAG 0.647000 65 24 0 0 0.018920 0 0 PDE4C 5143 broad.mit.edu 37 19 18333100 18333100 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:18333100C>T uc010xqc.2 - 1 756 c.276G>A c.(274-276)agG>agA p.R92R PDE4C_uc002nik.4_Silent_p.R92R|PDE4C_uc002nil.4_Silent_p.R92R|PDE4C_uc002nig.4_5'Flank|PDE4C_uc002nih.4_5'Flank|PDE4C_uc010ebk.3_5'UTR|PDE4C_uc002nii.4_Silent_p.R60R|PDE4C_uc002nif.4_5'UTR|PDE4C_uc010ebl.3_5'UTR|PDE4C_uc010ebm.1_5'Flank|PDE4C_uc002nim.1_Silent_p.R92R NM_001098819 NP_001092289 Q08493 PDE4C_HUMAN Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA. 92 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) CCAGGGCCCTCCTCCCACACG 0.632000 60 11 0 0 0.020292 0 0 KDM6A 7403 broad.mit.edu 37 X 44922683 44922683 + Missense_Mutation SNP T C C TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:44922683T>C uc011mkz.2 + 16 2075 c.1700T>C c.(1699-1701)gTt>gCt p.V567A KDM6A_uc022bvi.1_Missense_Mutation_p.V185A|KDM6A_uc010nhk.2_Missense_Mutation_p.V481A|KDM6A_uc004dge.4_Missense_Mutation_p.V515A|KDM6A_uc011mla.2_Missense_Mutation_p.V470A|KDM6A_uc011mlb.2_Missense_Mutation_p.V522A|KDM6A_uc011mlc.2_Missense_Mutation_p.V219A|KDM6A_uc022bvj.1_Missense_Mutation_p.V436A|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Missense_Mutation_p.V154A NM_021140 NP_066963 O15550 KDM6A_HUMAN Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA. 515 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.0(2) 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 CCAACAGGAGTTGCACAGGTA 0.458000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 32 7 0 0 0.003080 0 0 ABCA13 154664 broad.mit.edu 37 7 48427419 48427419 + Splice_Site SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:48427419G>A uc003toq.2 + 36 11360 c.11336_splice c.e36-1 p.G3779_splice ABCA13_uc010kys.1_Splice_Site_p.G853_splice|ABCA13_uc003tos.1_Splice_Site_p.G605_splice|ABCA13_uc010kyt.1_Splice_Site NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 3779 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CATTTTTTAGGAACATTTGGT 0.299000 8 3 0 0 0.004672 0 0 TNXB 7148 broad.mit.edu 37 6 32037589 32037589 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:32037589G>A uc003nzl.2 - 14 5530 c.5328C>T c.(5326-5328)ccC>ccT p.P1776P NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 1858 Fibronectin type-III 10. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CCCCCAGACGGGGTTTTGGGG 0.587000 302 67 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179434480 179434480 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:179434480C>T uc021vsy.1 - 274 68900 c.68675G>A c.(68674-68676)gGa>gAa p.G22892E MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G16587E|TTN_uc021vta.1_Missense_Mutation_p.G16520E|TTN_uc021vtb.1_Missense_Mutation_p.G16395E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 23819 Fibronectin type-III 66. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTATTAATTCCTGTTGGTGG 0.373000 49 10 0 0 0.010729 0 0 POLD1 5424 broad.mit.edu 37 19 50902643 50902643 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:50902643C>T uc010eny.3 + 1 219 c.218C>T c.(217-219)tCa>tTa p.S73L POLD1_uc002psb.4_Missense_Mutation_p.S73L|POLD1_uc002psc.4_Missense_Mutation_p.S73L|POLD1_uc010enx.3_Non-coding_Transcript NM_002691 NP_002682 P28340 DPOD1_HUMAN Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA. 73 DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) GTCCCACCATCAGCCATAGAT 0.592000 DNA polymerases (catalytic subunits) 28 8 0 0 0.006214 0 0 ZBTB33 10009 broad.mit.edu 37 X 119389023 119389023 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:119389023C>T uc022cdm.1 + 0 1753 c.1753C>T c.(1753-1755)Cgt>Tgt p.R585C ZBTB33_uc010nqm.1_Missense_Mutation_p.R585C|ZBTB33_uc004esn.1_Missense_Mutation_p.R585C NM_006777 NP_006768 Q86T24 KAISO_HUMAN Homo sapiens zinc finger and BTB domain containing 33 (ZBTB33), transcript variant 2, mRNA. 585 Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity). Wnt receptor signaling pathway|intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 26 AAAGCTTTATCGTTTACATCC 0.378000 56 8 0 0 0.006214 0 0 ADRBK2 157 broad.mit.edu 37 22 26100117 26100117 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr22:26100117C>T uc003abx.4 + 14 1416 c.1269C>T c.(1267-1269)tcC>tcT p.S423S ADRBK2_uc010gux.3_Silent_p.S423S|ADRBK2_uc003abw.2_Silent_p.S310S|ADRBK2_uc003aby.4_Non-coding_Transcript NM_005160 NP_005151 P35626 ARBK2_HUMAN Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA. 423 Protein kinase. ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2) 32 Adenosine triphosphate(DB00171) AACTGAAGTCCCTTTTGGAGG 0.498000 36 9 0 0 0.010729 0 0 IMPG1 3617 broad.mit.edu 37 6 76728558 76728558 + Silent SNP G A A rs142510377 by1000genomes TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr6:76728558G>A uc003pik.1 - 6 814 c.684C>T c.(682-684)ttC>ttT p.F228F NM_001563 NP_001554 Q17R60 IMPG1_HUMAN Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA. 228 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) CCAACACAGCGAATTCTGTTT 0.413000 24 13 0 0 0.016723 0 0 NKAIN3 286183 broad.mit.edu 37 8 63659649 63659649 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr8:63659649C>T uc010lyq.1 + 3 564 c.432C>T c.(430-432)taC>taT p.Y144Y NM_173688 NP_775959 Q8N8D7 NKAI3_HUMAN Homo sapiens Na+/K+ transporting ATPase interacting 3 (NKAIN3), mRNA. 144 integral to membrane|plasma membrane kidney(3)|large_intestine(2)|lung(8) 13 Breast(64;0.127) Lung NSC(129;0.187) ACTTCCAGTACCTGGAGGTCA 0.478000 33 5 0 0 0.021553 0 0 KRTAP3-2 83897 broad.mit.edu 37 17 39156052 39156052 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:39156052G>A uc002hvs.3 - 0 87 c.54C>T c.(52-54)acC>acT p.T18T NM_031959 NP_114165 Q9BYR7 KRA32_HUMAN Homo sapiens keratin associated protein 3-2 (KRTAP3-2), mRNA. 18 3 X 5 AA repeats of C-C-X(3). keratin filament structural molecule activity p.T17T(1) endometrium(1)|large_intestine(1)|lung(1) 3 Breast(137;0.00043) AGGAGCAGATGGTGGTGGCAG 0.572000 49 18 0 0 0.006122 0 0 AKR1B10 57016 broad.mit.edu 37 7 134215553 134215553 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:134215553C>T uc003vrr.3 + 1 545 c.225C>T c.(223-225)atC>atT p.I75I NM_020299 NP_064695 O60218 AK1BA_HUMAN Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA. 75 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 ACCTGTTCATCGTCAGCAAGG 0.512000 55 10 0 0 0.010729 0 0 SORBS2 8470 broad.mit.edu 37 4 186545539 186545539 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:186545539G>A uc003iyg.3 - 12 1406 c.1374C>T c.(1372-1374)gtC>gtT p.V458V SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Silent_p.V444V|SORBS2_uc003iyl.3_Silent_p.V344V|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.V248V|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA. 344 Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) AGTCCCGAGGGACATCCAAGT 0.507000 52 16 0 0 0.024245 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T C C rs11554290 TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:115256529T>C uc009wgu.3 - 2 436 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 109 38 0 0 0.021022 0 0 HDHD2 84064 broad.mit.edu 37 18 44656625 44656625 + Nonsense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr18:44656625G>A uc002lcs.3 - 3 518 c.385C>T c.(385-387)Caa>Taa p.Q129* HDHD2_uc002lct.3_Nonsense_Mutation_p.Q39* NM_032124 NP_115500 Q9H0R4 HDHD2_HUMAN Homo sapiens haloacid dehalogenase-like hydrolase domain containing 2 (HDHD2), mRNA. 129 hydrolase activity kidney(2)|large_intestine(2)|lung(1)|skin(1) 6 CGGAATGCTTGATTCAGAATT 0.348000 54 12 0 0 0.010729 0 0 SPEG 10290 broad.mit.edu 37 2 220350076 220350076 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:220350076G>A uc010fwg.3 + 30 7618 c.7618G>A c.(7618-7620)Gaa>Aaa p.E2540K NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 2540 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) AGCCCCAGGGGAAAGCCGAAG 0.607000 80 10 0 0 0.013537 0 0 SEC24C 9632 broad.mit.edu 37 10 75519806 75519806 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:75519806G>A uc001juw.3 + 5 692 c.512G>A c.(511-513)gGa>gAa p.G171E SEC24C_uc010qkn.2_Non-coding_Transcript|SEC24C_uc009xrj.2_Missense_Mutation_p.G29E|SEC24C_uc001jux.3_Missense_Mutation_p.G171E|SEC24C_uc010qko.2_Missense_Mutation_p.G29E|SEC24C_uc010qkp.2_Intron|SEC24C_uc010qkq.2_Intron NM_004922 NP_940999 P53992 SC24C_HUMAN Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA. 171 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) TCAGCCTCAGGAAGTTTCCCT 0.547000 79 28 0 0 0.008361 0 0 TLL1 7092 broad.mit.edu 37 4 166986935 166986935 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:166986935C>T uc003irh.2 + 15 2755 c.2108C>T c.(2107-2109)tCc>tTc p.S703F TLL1_uc011cjn.2_Missense_Mutation_p.S726F|TLL1_uc011cjo.2_Missense_Mutation_p.S527F NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 703 CUB 3. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GTGATCACATCCCAGTTCAAC 0.398000 67 6 0 0 0.021553 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G A A rs12366766 TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:132547087G>A uc001ujn.3 + 46 8327 c.8175G>A c.(8173-8175)caG>caA p.Q2725Q EP400_uc021rgq.1_Silent_p.Q2724Q|EP400_uc001ujm.3_Silent_p.Q2644Q|EP400_uc001ujp.3_5'UTR NM_015409 NP_056224 Q96L91 EP400_HUMAN Homo sapiens E1A binding protein p400 (EP400), mRNA. 2761 Interaction with ZNF42 (By similarity). histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(32)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 37 4 0 0 0.009096 0 0 ANKRD17 26057 broad.mit.edu 37 4 73942768 73942768 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr4:73942768G>A uc003hgp.3 - 32 7758 c.7641C>T c.(7639-7641)atC>atT p.I2547I ANKRD17_uc003hgo.3_Silent_p.I2434I|ANKRD17_uc003hgq.3_Silent_p.I2296I|ANKRD17_uc003hgr.3_Silent_p.I2546I NM_032217 NP_115593 O75179 ANR17_HUMAN Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA. 2547 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CACCATCAGGGATAGGTGCTA 0.428000 34 17 0 0 0.028581 0 0 TTC16 158248 broad.mit.edu 37 9 130492962 130492962 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr9:130492962G>A uc004brq.1 + 13 1967 c.1900G>A c.(1900-1902)Gaa>Aaa p.E634K TTC16_uc011mai.1_Missense_Mutation_p.E621K|TTC16_uc004brr.1_Silent_p.R454R|TTC16_uc010mxn.1_Missense_Mutation_p.E230K NM_144965 NP_659402 Q8NEE8 TTC16_HUMAN Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA. 634 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 TATCTGCCAGGAATACAGGAG 0.587000 28 4 0 0 0.009096 0 0 SEC14L4 284904 broad.mit.edu 37 22 30891916 30891916 + Splice_Site SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr22:30891916C>T uc003aid.2 - 3 274 c.174_splice c.e3+1 p.R58_splice SEC14L4_uc011akz.1_Splice_Site_p.R58_splice|SEC14L4_uc003aie.2_Splice_Site_p.G27_splice|SEC14L4_uc003aif.2_Splice_Site_p.R4_splice NM_174977 NP_777637 Q9UDX3 S14L4_HUMAN Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA. 58 integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) GATCCTTACCCTTCGGAGCAT 0.517000 20 4 0 0 0.021553 0 0 ATP13A3 79572 broad.mit.edu 37 3 194162180 194162180 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:194162180G>A uc003fty.4 - 14 1972 c.1570C>T c.(1570-1572)Cca>Tca p.P524S ATP13A3_uc003ftz.1_Missense_Mutation_p.P230S NM_024524 NP_078800 Q9H7F0 AT133_HUMAN Homo sapiens ATPase type 13A3 (ATP13A3), mRNA. 524 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) TTTTCTTCTGGTGAAAGAAAT 0.333000 28 6 0 0 0.001984 0 0 OBSCN 84033 broad.mit.edu 37 1 228452073 228452073 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:228452073C>T uc009xez.1 + 15 4886 c.4842C>T c.(4840-4842)tcC>tcT p.S1614S OBSCN_uc001hsn.3_Silent_p.S1614S NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 1614 Ig-like 16. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGCGGCTGTCCTTCCACCTGC 0.647000 20 6 0 0 0.021553 0 0 APH1A 51107 broad.mit.edu 37 1 150238977 150238977 + Missense_Mutation SNP A G G TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:150238977A>G uc001ety.2 - 5 1088 c.689T>C c.(688-690)aTc>aCc p.I230T APH1A_uc001etz.2_Missense_Mutation_p.I230T|APH1A_uc010pbx.2_Missense_Mutation_p.I160T|APH1A_uc010pby.2_Missense_Mutation_p.I173T|APH1A_uc010pbz.2_Missense_Mutation_p.I114T NM_001077628 NP_001071096 Q96BI3 APH1A_HUMAN Homo sapiens anterior pharynx defective 1 homolog A (C. elegans) (APH1A), transcript variant 1, mRNA. 230 Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity|protein processing Golgi cisterna membrane|endoplasmic reticulum membrane|integral to plasma membrane protein binding p.I230M(1) breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2) 9 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) TCCAGCTGTGATGAAGGCCCA 0.562000 31 5 0 0 0.014758 0 0 SMG5 23381 broad.mit.edu 37 1 156236056 156236056 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:156236056G>A uc001foc.4 - 11 1520 c.1371C>T c.(1369-1371)tcC>tcT p.S457S NM_015327 NP_056142 Q9UPR3 SMG5_HUMAN Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA. 457 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) GGCGGAGACAGGAGAGGCGAG 0.587000 98 28 0 0 0.006320 0 0 TAS1R1 80835 broad.mit.edu 37 1 6635361 6635361 + Missense_Mutation SNP A G G TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:6635361A>G uc001ant.3 + 2 1265 c.1169A>G c.(1168-1170)tAc>tGc p.Y390C TAS1R1_uc001anu.3_Intron|TAS1R1_uc021ofp.1_Missense_Mutation_p.Y312C NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA. 390 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) TACAACGCATACCGGGCTGTG 0.587000 42 12 0 0 0.013537 0 0 FREM2 341640 broad.mit.edu 37 13 39343824 39343824 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr13:39343824G>A uc001uwv.3 + 3 5829 c.5520G>A c.(5518-5520)cgG>cgA p.R1840R FREM2_uc001uww.3_5'UTR NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA. 1840 Calx-beta 1. R -> W (in dbSNP:rs9603422). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GGCGAGTGCGGATCCTGAGTG 0.542000 40 12 0 0 0.013537 0 0 LAMB4 22798 broad.mit.edu 37 7 107708494 107708494 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:107708494C>T uc010ljo.1 - 18 2497 c.2413G>A c.(2413-2415)Gga>Aga p.G805R LAMB4_uc003vey.2_Missense_Mutation_p.G805R NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN Homo sapiens laminin, beta 4 (LAMB4), mRNA. 805 Laminin EGF-like 6. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TCATAGCTTCCAGTTGAGCAC 0.552000 184 45 0 0 0.014410 0 0 HSPH1 10808 broad.mit.edu 37 13 31715323 31715323 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr13:31715323G>A uc001utl.3 - 12 2067 c.1796C>T c.(1795-1797)cCt>cTt p.P599L HSPH1_uc001utj.3_Missense_Mutation_p.P597L|HSPH1_uc001utk.3_Missense_Mutation_p.P553L|HSPH1_uc010aaw.3_Missense_Mutation_p.P556L|HSPH1_uc010tds.2_Missense_Mutation_p.P521L NM_006644 NP_006635 Q92598 HS105_HUMAN Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA. 597 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) GGCTTCAATAGGCAGCTCAAC 0.353000 46 12 0 0 0.013537 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54922055 54922055 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr12:54922055G>A uc001sgc.4 + 21 2479 c.2400G>A c.(2398-2400)caG>caA p.Q800Q NCKAP1L_uc010sox.2_Silent_p.Q342Q|NCKAP1L_uc010soy.2_Silent_p.Q750Q NM_005337 NP_005328 P55160 NCKPL_HUMAN Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA. 800 B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug SCAR complex|cytosol|integral to plasma membrane|membrane fraction Rac GTPase activator activity|protein complex binding|protein kinase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 TGCTTAGACAGGCAAGCAGTG 0.532000 107 50 0 0 0.014410 0 0 KCNH4 23415 broad.mit.edu 37 17 40327750 40327750 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr17:40327750G>A uc002hzb.2 - 5 1167 c.834C>T c.(832-834)atC>atT p.I278I NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA. 278 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) AGTTCAGGATGATATCTGGGG 0.562000 100 9 0 0 0.004482 0 0 NLRP8 126205 broad.mit.edu 37 19 56473543 56473543 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr19:56473543C>T uc002qmh.3 + 3 2224 c.2153C>T c.(2152-2154)cCt>cTt p.P718L NLRP8_uc010etg.3_Missense_Mutation_p.P718L NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 718 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TTGGGGCCTCCTTTTTTGAAG 0.488000 58 14 0 0 0.020292 0 0 HDAC4 9759 broad.mit.edu 37 2 239976470 239976470 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:239976470G>A uc002vyk.4 - 24 3840 c.3048C>T c.(3046-3048)tcC>tcT p.S1016S HDAC4_uc010fyy.3_Silent_p.S973S NM_006037 NP_006028 P56524 HDAC4_HUMAN Homo sapiens histone deacetylase 4 (HDAC4), mRNA. 1016 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) CTTTCTCCATGGAACGGACAG 0.512000 70 13 0 0 0.004990 0 0 WFDC9 259240 broad.mit.edu 37 20 44238797 44238797 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr20:44238797G>A uc002xoy.3 - 2 242 c.24C>T c.(22-24)ctC>ctT p.L8L NM_147198 NP_671731 Q8NEX5 WFDC9_HUMAN Homo sapiens WAP four-disulfide core domain 9 (WFDC9), mRNA. 8 extracellular region breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1) 6 Myeloproliferative disorder(115;0.0122) TGAACATGACGAGTAGAAGAA 0.493000 35 5 0 0 0.014758 0 0 WDR69 164781 broad.mit.edu 37 2 228750084 228750084 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr2:228750084G>A uc002vpn.1 + 1 137 c.58G>A c.(58-60)Gaa>Aaa p.E20K WDR69_uc010zlw.1_Missense_Mutation_p.E5K|WDR69_uc002vpo.1_Non-coding_Transcript NM_178821 NP_849143 Q8N136 WDR69_HUMAN Homo sapiens WD repeat domain 69 (WDR69), mRNA. 20 breast(1)|kidney(3)|large_intestine(9)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 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;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148) GTTGGAATATGAAAAACATGG 0.338000 54 8 0 0 0.008291 0 0 PCDHB5 26167 broad.mit.edu 37 5 140515911 140515911 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:140515911G>A uc003liq.3 + 0 1112 c.895G>A c.(895-897)Gaa>Aaa p.E299K NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN Homo sapiens protocadherin beta 5 (PCDHB5), mRNA. 299 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAAAACAGCAGAAATTCGCCT 0.448000 74 20 0 0 0.010504 0 0 RYR3 6263 broad.mit.edu 37 15 33961554 33961554 + Splice_Site SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr15:33961554G>A uc001zhi.3 + 37 5690 c.5620_splice c.e37-1 p.I1874_splice RYR3_uc010bar.3_Splice_Site_p.I1874_splice NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 1874 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCCTCTCAAAGATCAACATGC 0.448000 33 9 0 0 0.004482 0 0 VASH2 79805 broad.mit.edu 37 1 213146268 213146268 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:213146268G>A uc001hjy.3 + 4 1048 c.844G>A c.(844-846)Gag>Aag p.E282K VASH2_uc001hjv.2_Non-coding_Transcript|VASH2_uc001hjx.3_Missense_Mutation_p.E217K|VASH2_uc010ptn.2_Missense_Mutation_p.E178K|VASH2_uc001hjw.3_Missense_Mutation_p.E238K NM_001136475 NP_001129947 Q86V25 VASH2_HUMAN Homo sapiens vasohibin 2 (VASH2), transcript variant 3, mRNA. 282 positive regulation of angiogenesis|positive regulation of endothelial cell proliferation cytoplasm endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986) CATAAGGAAGGAGCTGGAGAA 0.527000 37 10 0 0 0.008291 0 0 MEF2D 4209 broad.mit.edu 37 1 156437893 156437893 + Silent SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr1:156437893G>A uc001fpc.3 - 10 1836 c.1446C>T c.(1444-1446)gaC>gaT p.D482D MEF2D_uc001fpb.3_Silent_p.D475D|MEF2D_uc001fpd.3_Silent_p.D475D|MEF2D_uc009wsa.3_Non-coding_Transcript|MEF2D_uc001fpe.1_Silent_p.D482D NM_005920 NP_005911 Q14814 MEF2D_HUMAN Homo sapiens myocyte enhancer factor 2D (MEF2D), mRNA. 482 apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter nucleus RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding RNA polymerase II transcription factor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 15 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CGTCATCCCGGTCTCCCGTCT 0.701000 38 15 0 0 0.028581 0 0 SV2C 22987 broad.mit.edu 37 5 75490905 75490905 + Missense_Mutation SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr5:75490905C>T uc003kei.1 + 2 876 c.742C>T c.(742-744)Cgc>Tgc p.R248C NM_014979 NP_055794 Q496J9 SV2C_HUMAN Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA. 248 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) TCTCTTCTGTCGCTTACTTTC 0.388000 184 20 0 0 0.016522 0 0 MSLNL 401827 broad.mit.edu 37 16 830384 830384 + Missense_Mutation SNP G A A TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr16:830384G>A uc002cjz.1 - 2 617 c.617C>T c.(616-618)cCt>cTt p.P206L NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN Homo sapiens mesothelin-like (MSLNL), mRNA. 0 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 GGTGCATGCAGGCACGCACAT 0.597000 51 10 0 0 0.006214 0 0 PPYR1 5540 broad.mit.edu 37 10 47087209 47087209 + Silent SNP C T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:47087209C>T uc001jee.3 + 2 845 c.426C>T c.(424-426)ctC>ctT p.L142L ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.L142L|PPYR1_uc021ppu.1_Silent_p.L142L NM_005972 NP_005963 P50391 NPY4R_HUMAN Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA. 142 blood circulation|digestion|feeding behavior integral to plasma membrane p.L142L(4) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 GGCATCAGCTCATCATCAACC 0.592000 128 17 0 0 0.007413 0 0 MUC20 200958 broad.mit.edu 37 3 195452664 195452664 + Frame_Shift_Del DEL C - - TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr3:195452664delC uc010hzo.3 + 2 803 c.677delC c.(676-678)accfs p.T226fs MUC20_uc010hzp.3_Frame_Shift_Del_p.T191fs|MUC20_uc011bte.1_Non-coding_Transcript NM_152673 NP_689886 Q8N307 MUC20_HUMAN Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA. 397 12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich. Missing. protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) CCAGTCATCACCCCCTCATGG 0.587 --- 1 --- --- 5 --- MLL5 55904 broad.mit.edu 37 7 104753026 104753027 + Frame_Shift_Ins INS - T T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr7:104753026_104753027insT uc003vcm.3 + 26 5357_5358 c.4823_4824insT c.(4822-4824)catfs p.H1608fs MLL5_uc010ljc.3_Frame_Shift_Ins_p.H1608fs|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.3_Frame_Shift_Ins_p.H342fs NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA. 1608 Pro-rich. DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 63 ACTCCAGGGCATTTTTTGCCCT 0.535 --- 100 --- --- 26 --- DIP2C 22982 broad.mit.edu 37 10 415480 415482 + In_Frame_Del DEL CTT - - TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr10:415480_415482delCTT uc001ifp.3 - 17 2173_2175 c.2083_2085delAAG c.(2083-2085)aagdel p.K695del DIP2C_uc009xhi.1_In_Frame_Del_p.K81del|DIP2C_uc010pzz.1_In_Frame_Del_p.K16del NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA. 695 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GCACGGACAGCTTCTCTTCCGAG 0.562 --- 53 --- --- 12 --- DHRS2 10202 broad.mit.edu 37 14 24112393 24112400 + Frame_Shift_Del DEL GCTGCTGA - - TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chr14:24112393_24112400delGCTGCTGA uc001wkt.4 + 4 900_907 c.453_460delGCTGCTGA c.(451-462)ctgctgctgagcfs p.L151fs DHRS2_uc010aku.1_3'UTR|DHRS2_uc001wku.4_Frame_Shift_Del_p.L151fs|DHRS2_uc010akv.3_Non-coding_Transcript NM_182908 NP_878912 Q13268 DHRS2_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA. 129 I -> V (in Ref. 3; BAD96577). C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin mitochondrion|nuclear envelope binding|carbonyl reductase (NADPH) activity endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00659) CCCCAGCCCTGCTGCTGAGCCAGTTGCT 0.577 --- 143 --- --- 22 --- NUDT11 55190 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC - - rs78182391 TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6e8511e8-982a-433f-90af-1d2dda8f87a9 7e2d9950-df36-49f3-a893-588120d6eb78 g.chrX:51239296_51239309delTCCTCGAGGCAGCC uc010njt.3 - 0 NM_018159 NP_060629 Q96G61 NUD11_HUMAN Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA. cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) --- 8 --- --- 9 ---