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 TPK1 27010 broad.mit.edu 37 7 144288534 144288534 + Silent SNP C T T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr7:144288534C>T uc003weq.3 - 6 586 c.483G>A c.(481-483)ctG>ctA p.L161L TPK1_uc003weo.3_Intron|TPK1_uc003wep.3_Non-coding_Transcript|TPK1_uc003wer.3_Intron|TPK1_uc003wes.3_Non-coding_Transcript NM_022445 NP_071890 Q9H3S4 TPK1_HUMAN Homo sapiens thiamin pyrophosphokinase 1 (TPK1), transcript variant 1, mRNA. 161 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) GCAGGTAGATCAGCGATTCCT 0.423000 144 118 0 0 1 0 0 LILRA4 23547 broad.mit.edu 37 19 54849692 54849692 + Silent SNP G A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr19:54849692G>A uc002qfj.3 - 2 387 c.330C>T c.(328-330)agC>agT p.S110S LILRA4_uc002qfi.3_Silent_p.S44S NM_012276 NP_036408 P59901 LIRA4_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA. 110 Ig-like C2-type 1. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) CCAGGGGGTCGCTGGGCTCTG 0.607000 92 38 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60688844 60688844 + Silent SNP G A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr2:60688844G>A uc002sae.1 - 3 1431 c.1203C>T c.(1201-1203)ggC>ggT p.G401G BCL11A_uc002sab.3_Silent_p.G401G|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Silent_p.G70G|BCL11A_uc010ypj.2_Silent_p.G367G|BCL11A_uc002sad.1_Silent_p.G249G|BCL11A_uc002saf.1_Silent_p.G367G NM_022893 NP_075044 Q9H165 BC11A_HUMAN Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA. 401 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) AGGGCTTCTCGCCCGTGTGGC 0.607000 T IGH@ B-CLL 135 144 0 0 1 0 0 AP3B2 8120 broad.mit.edu 37 15 83346082 83346082 + Missense_Mutation SNP G C C TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr15:83346082G>C uc010uoi.2 - 12 1609 c.1432C>G c.(1432-1434)Cca>Gca p.P478A AP3B2_uc010uoh.2_Missense_Mutation_p.P478A|AP3B2_uc010uoj.2_Missense_Mutation_p.P446A|AP3B2_uc010uog.2_Missense_Mutation_p.P114A NM_004644 NP_004635 Q13367 AP3B2_HUMAN Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA. 478 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) TGTTGTGCTGGCTGCATCTGT 0.478000 40 6 0 0 1 0 0 MATN4 8785 broad.mit.edu 37 20 43933112 43933112 + Silent SNP C T T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr20:43933112C>T uc002xnn.2 - 2 586 c.399G>A c.(397-399)ccG>ccA p.P133P MATN4_uc002xnp.2_Silent_p.P133P|MATN4_uc002xno.2_Silent_p.P133P|MATN4_uc010zwr.1_Silent_p.P81P|MATN4_uc002xnr.1_Silent_p.P133P|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank NM_003833 NP_003824 O95460 MATN4_HUMAN Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA. 133 VWFA 1. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) GCTCCTCTGGCGGTCGCGCGC 0.716000 15 9 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430948 37430948 + Missense_Mutation SNP C G G TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr10:37430948C>G uc021ppc.1 + 6 1054 c.955C>G c.(955-957)Cca>Gca p.P319A ANKRD30A_uc001iza.1_Missense_Mutation_p.P319A NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 375 nucleus DNA binding|sequence-specific DNA binding transcription factor activity 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 ATTTACGTGGCCAGCAAAAGG 0.423000 154 8 0 0 1 0 0 FBXO38 81545 broad.mit.edu 37 5 147820746 147820746 + Nonsense_Mutation SNP C T T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr5:147820746C>T uc003lpf.1 + 20 3454 c.3334C>T c.(3334-3336)Cga>Tga p.R1112* FBXO38_uc003lpg.1_Nonsense_Mutation_p.R1037*|FBXO38_uc003lph.2_Nonsense_Mutation_p.R867* NM_205836 NP_995308 Q6PIJ6 FBX38_HUMAN Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA. 1112 cytoplasm|nucleus ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGTCATTACGAGCTGCAGA 0.438000 124 52 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76528954 76528954 + Missense_Mutation SNP G A A rs138136389 byFrequency TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr16:76528954G>A uc002fex.1 + 12 2376 c.2237G>A c.(2236-2238)cGg>cAg p.R746Q CNTNAP4_uc002feu.1_Missense_Mutation_p.R742Q|CNTNAP4_uc002fev.1_Missense_Mutation_p.R607Q|CNTNAP4_uc010chb.1_Missense_Mutation_p.R670Q|CNTNAP4_uc002few.2_Missense_Mutation_p.R718Q NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA. 743 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GATGCTGACCGGAATGAATGG 0.358000 88 50 0 0 1 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150527966 150527966 + Silent SNP T C C TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr1:150527966T>C uc009wlw.3 + 7 1523 c.1365T>C c.(1363-1365)cgT>cgC p.R455R ADAMTSL4_uc001euw.3_Silent_p.R432R|ADAMTSL4_uc001eux.3_Silent_p.R432R|ADAMTSL4_uc010pcg.2_Silent_p.R455R|ADAMTSL4_uc009wlx.3_5'Flank NM_019032 NP_061905 Q6UY14 ATL4_HUMAN Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA. 432 apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding p.R455H(1) breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) TCTATGTCCGTCACACTGAAA 0.607000 87 14 0 0 1 0 0 SLC9A7 84679 broad.mit.edu 37 X 46466517 46466517 + Missense_Mutation SNP G A A rs146808441 TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chrX:46466517G>A uc004dgu.1 - 16 2056 c.2048C>T c.(2047-2049)aCg>aTg p.T683M NM_032591 NP_115980 Q96T83 SL9A7_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA. 683 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 21 CTCCAGACTCGTGGAGGCGGT 0.602000 2 38 0 0 1 0 0 LGALS12 85329 broad.mit.edu 37 11 63278567 63278567 + Missense_Mutation SNP G A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr11:63278567G>A uc001nxc.2 + 5 958 c.617G>A c.(616-618)aGc>aAc p.S206N LGALS12_uc001nxa.2_Missense_Mutation_p.S205N|LGALS12_uc001nxb.2_Intron|LGALS12_uc001nxd.2_Missense_Mutation_p.S144N|LGALS12_uc001nxe.2_Intron|LGALS12_uc009yot.2_Missense_Mutation_p.S165N NM_001142535 NP_001136007 Q96DT0 LEG12_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA. 205 apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 16 CTGCTGATGAGCCCCAGGCTG 0.552000 79 7 0 0 1 0 0 LOC650623 650623 broad.mit.edu 37 10 81443821 81443821 + RNA SNP C G G rs150975459 by1000genomes TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr10:81443821C>G uc010qlu.2 + 0 c.1091C>G Homo sapiens BEN domain containing 3 pseudogene (LOC650623), non-coding RNA. GCAGCACCATCGCCTCAGACC 0.612000 43 6 0 0 1 0 0 IFNA16 3449 broad.mit.edu 37 9 21217066 21217066 + Missense_Mutation SNP A T T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr9:21217066A>T uc003zor.1 - 0 245 c.239T>A c.(238-240)tTc>tAc p.F80Y IFNA14_uc003zoo.1_Intron NM_002173 NP_002164 P05015 IFN16_HUMAN Homo sapiens interferon, alpha 16 (IFNA16), mRNA. 80 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 13 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) CATCTCATGGAAGGCAGAGAT 0.468000 14 115 0 0 1 0 0 NFATC4 4776 broad.mit.edu 37 14 24839702 24839702 + Silent SNP A G G TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr14:24839702A>G uc001wpc.3 + 1 1419 c.1098A>G c.(1096-1098)ggA>ggG p.G366G NFATC4_uc010alr.3_Silent_p.G429G|NFATC4_uc010tok.2_Silent_p.G429G|NFATC4_uc010tol.2_Silent_p.G429G|NFATC4_uc010als.2_Silent_p.G379G|NFATC4_uc010too.2_Silent_p.G379G|NFATC4_uc010tom.2_Silent_p.G379G|NFATC4_uc010ton.2_Silent_p.G379G|NFATC4_uc010toq.2_Silent_p.G398G|NFATC4_uc010alt.3_Silent_p.G398G|NFATC4_uc010top.2_Silent_p.G398G|NFATC4_uc010alu.3_Intron|NFATC4_uc010tor.2_Silent_p.G366G|NFATC4_uc010tos.2_Silent_p.G296G|NFATC4_uc010tot.2_Silent_p.G354G|NFATC4_uc010tou.2_Silent_p.G296G|NFATC4_uc010tov.2_Silent_p.G354G|NFATC4_uc010tow.2_Silent_p.G296G|NFATC4_uc010alv.3_Silent_p.G354G|NFATC4_uc010tox.2_Silent_p.G296G|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. 366 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) CTCCTCCAGGAGGTTCCCGGA 0.637000 49 26 0 0 1 0 0 ALDH1B1 219 broad.mit.edu 37 9 38396134 38396134 + Missense_Mutation SNP C A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr9:38396134C>A uc022bgy.1 + 0 389 c.389C>A c.(388-390)cCt>cAt p.P130H ALDH1B1_uc004aay.3_Missense_Mutation_p.P130H NM_000692 NP_000683 P30837 AL1B1_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA. 130 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity p.K129N(1) NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) AATGGGAAGCCTTTCCAAGAG 0.577000 262 80 4.82855e-46 5.64376e-46 1 1 0 FBXL7 23194 broad.mit.edu 37 5 15936915 15936915 + Missense_Mutation SNP G A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr5:15936915G>A uc003jfn.1 + 3 1577 c.1096G>A c.(1096-1098)Gtg>Atg p.V366M NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA. 366 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GGTCACCGACGTGGGCATCCG 0.672000 34 4 0 0 1 0 0 DDX4 54514 broad.mit.edu 37 5 55088554 55088554 + Nonsense_Mutation SNP T A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr5:55088554T>A uc003jqg.4 + 16 1487 c.1388T>A c.(1387-1389)tTa>tAa p.L463* DDX4_uc010ivz.3_Nonsense_Mutation_p.L443*|DDX4_uc003jqh.4_Nonsense_Mutation_p.L429*|DDX4_uc003jqj.3_Nonsense_Mutation_p.L314* NM_024415 NP_077726 Q9NQI0 DDX4_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA. 463 Helicase ATP-binding. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) ATGAAGAAGTTAATTTCTTGC 0.363000 215 21 0 0 1 0 0 RANBP9 10048 broad.mit.edu 37 6 13711709 13711709 + Missense_Mutation SNP G T T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr6:13711709G>T uc003nbb.3 - 0 88 c.29C>A c.(28-30)cCg>cAg p.P10Q NM_005493 NP_005484 Q96S59 RANB9_HUMAN Homo sapiens RAN binding protein 9 (RANBP9), mRNA. 10 Poly-Pro. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) ctgctgctgcggcggcggcgg 0.761000 23 4 0.150653 0.157661 1 1 0 DNA2 1763 broad.mit.edu 37 10 70182143 70182143 + Missense_Mutation SNP G T T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr10:70182143G>T uc021pru.1 - 16 2794 c.2794C>A c.(2794-2796)Ctg>Atg p.L932M DNA2_uc021prt.1_Missense_Mutation_p.L932M|DNA2_uc021prv.1_Missense_Mutation_p.L103M|DNA2_uc001jog.2_Intron|DNA2_uc001joh.2_Non-coding_Transcript NM_001080449 NP_001073918 P51530 DNA2L_HUMAN Homo sapiens DNA replication helicase 2 homolog (yeast) (DNA2), mRNA. 846 DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1) 20 CCACACTCCAGCTTGCCCTCA 0.363000 62 3 1 1 1 1 0 LCP1 3936 broad.mit.edu 37 13 46721149 46721149 + Silent SNP G A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr13:46721149G>A uc001vaz.4 - 9 1194 c.1068C>T c.(1066-1068)gtC>gtT p.V356V LCP1_uc001vay.4_5'Flank|LCP1_uc001vba.4_Silent_p.V356V NM_002298 NP_002289 P13796 PLSL_HUMAN Homo sapiens lymphocyte cytosolic protein 1 (L-plastin) (LCP1), mRNA. 356 Actin-binding 1.|CH 2. T cell activation involved in immune response|regulation of intracellular protein transport cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) GGTTCCCTCGGACAACATCTG 0.547000 T BCL6 NHL 63 69 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24537572 24537572 + Missense_Mutation SNP A T T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr5:24537572A>T uc003jgr.2 - 2 949 c.443T>A c.(442-444)aTc>aAc p.I148N CDH10_uc011cnu.2_Non-coding_Transcript NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA. 148 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) ATGAATTTTGATCACAAACTC 0.418000 HNSCC(23;0.051) 174 61 0 0 1 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728170 20728170 + Missense_Mutation SNP G C C TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr19:20728170G>C uc002npa.3 - 3 1019 c.839C>G c.(838-840)aCt>aGt p.T280S NM_001159293 NP_001152765 C9JHM3 C9JHM3_HUMAN Homo sapiens zinc finger protein 737 (ZNF737), mRNA. 280 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 TTTCTCTCCAGTATGAATTAT 0.413000 76 3 0 0 1 0 0 SLC16A12 387700 broad.mit.edu 37 10 91198576 91198576 + Silent SNP C T T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr10:91198576C>T uc001kgm.3 - 5 1114 c.813G>A c.(811-813)ttG>ttA p.L271L SLC16A12_uc001kgl.3_5'Flank NM_213606 NP_998771 Q6ZSM3 MOT12_HUMAN Homo sapiens solute carrier family 16, member 12 (monocarboxylic acid transporter 12) (SLC16A12), mRNA. 241 integral to membrane|plasma membrane symporter activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1) 14 ACTCTTGCTGCAAACAGCAAC 0.448000 9 36 0 0 1 0 0 ARRDC2 27106 broad.mit.edu 37 19 18120412 18120412 + Silent SNP G A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr19:18120412G>A uc002nhv.3 + 3 644 c.501G>A c.(499-501)gcG>gcA p.A167A ARRDC2_uc002nhu.3_Silent_p.A162A NM_015683 NP_056498 Q8TBH0 ARRD2_HUMAN Homo sapiens arrestin domain containing 2 (ARRDC2), transcript variant 1, mRNA. 167 p.K167N(1) endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1) 12 CACCTCAAGCGGGGGCTCGGG 0.587000 164 47 0 0 1 0 0 FAP 2191 broad.mit.edu 37 2 163059576 163059576 + Missense_Mutation SNP T C C TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr2:163059576T>C uc002ucd.3 - 12 1335 c.1127A>G c.(1126-1128)cAt>cGt p.H376R FAP_uc010zct.2_Missense_Mutation_p.H351R NM_004460 NP_004451 Q12884 SEPR_HUMAN Homo sapiens fibroblast activation protein, alpha (FAP), mRNA. 376 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity p.H376H(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 ATAGTGAATATGTTTGTAGCC 0.363000 34 24 0 0 1 0 0 AATF 26574 broad.mit.edu 37 17 35348139 35348139 + Missense_Mutation SNP G A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr17:35348139G>A uc002hni.3 + 7 1632 c.1381G>A c.(1381-1383)Gat>Aat p.D461N NM_012138 NP_036270 Q9NY61 AATF_HUMAN Homo sapiens apoptosis antagonizing transcription factor (AATF), mRNA. 461 RB1 and SP1 binding. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus centrosome|focal adhesion|nucleolus leucine zipper domain binding|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2) 18 Breast(25;0.00607) CTTTGATGATGATGACTTTTA 0.373000 77 38 0 0 1 0 0 FLJ43860 389690 broad.mit.edu 37 8 142451278 142451278 + Missense_Mutation SNP G A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr8:142451278G>A uc003ywi.2 - 23 3121 c.3040C>T c.(3040-3042)Cgt>Tgt p.R1014C FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN Homo sapiens FLJ43860 protein (FLJ43860), mRNA. 1015 binding all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) TTCCTCTCACGCTCCTGTGGG 0.637000 28 34 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20808090 20808090 + Missense_Mutation SNP C T T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr19:20808090C>T uc002npb.1 - 3 743 c.593G>A c.(592-594)gGg>gAg p.G198E ZNF626_uc002npc.1_Missense_Mutation_p.G122E NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA. 198 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 GTAGGGTTTCCCTCCAGTATG 0.363000 92 4 0 0 1 0 0 GRK6 2870 broad.mit.edu 37 5 176860178 176860178 + Silent SNP T C C TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr5:176860178T>C uc021yit.1 + 5 631 c.471T>C c.(469-471)ccT>ccC p.P157P GRK6_uc003mgq.2_Silent_p.P157P|GRK6_uc021yiu.1_Silent_p.P157P|GRK6_uc003mgs.1_Silent_p.P127P NM_001004106 NP_001004106 P43250 GRK6_HUMAN Homo sapiens G protein-coupled receptor kinase 6 (GRK6), transcript variant 1, mRNA. 157 N-terminal.|RGS. regulation of G-protein coupled receptor protein signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1) 25 all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCGTGGCCCCTTTTGCCGACT 0.627000 236 4 0 0 1 0 0 FDXR 2232 broad.mit.edu 37 17 72863050 72863050 + Silent SNP C T T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr17:72863050C>T uc010wrl.2 - 2 342 c.255G>A c.(253-255)gcG>gcA p.A85A FDXR_uc010wri.2_Intron|FDXR_uc010wrj.2_Intron|FDXR_uc002jlw.3_Intron|FDXR_uc002jlx.3_Intron|FDXR_uc002jly.3_Intron|FDXR_uc010wrk.2_Intron|FDXR_uc010wrm.2_Intron|FDXR_uc002jlz.3_Intron|FDXR_uc002jmb.3_Intron NM_024417 NP_077728 P22570 ADRO_HUMAN Homo sapiens ferredoxin reductase (FDXR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 59 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) GAGGCTGGGACGCCCCCAGGT 0.622000 11 5 0 0 1 0 0 RTL1 388015 broad.mit.edu 37 14 101348096 101348096 + Silent SNP G A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr14:101348096G>A uc010txj.1 - 0 3089 c.3030C>T c.(3028-3030)gcC>gcT p.A1010A MIR433_uc021scd.1_5'Flank|MIR127_uc001yig.3_5'Flank|MIR432_uc021sce.1_5'Flank|MIR136_uc010txk.1_5'Flank NM_001134888 NP_001128360 E9PKS8 E9PKS8_HUMAN Homo sapiens retrotransposon-like 1 (RTL1), mRNA. 1010 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 TTTGCCTGGCGGCAGTGTTCC 0.577000 4 11 0 0 1 0 0 GALC 2581 broad.mit.edu 37 14 88442747 88442747 + Missense_Mutation SNP G T T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr14:88442747G>T uc001xvt.3 - 6 814 c.707C>A c.(706-708)tCc>tAc p.S236Y GALC_uc010tvw.1_Non-coding_Transcript|GALC_uc010tvy.2_Missense_Mutation_p.S213Y|GALC_uc010tvx.2_Missense_Mutation_p.S210Y|GALC_uc010tvz.1_Missense_Mutation_p.S180Y|GALC_uc001xvu.2_Missense_Mutation_p.S236Y NM_000153 NP_000144 P54803 GALC_HUMAN Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA. 236 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 AAGGAGCATGGATGCAGAGAT 0.398000 47 66 3.26865e-45 3.77151e-45 1 1 0 ZBTB43 23099 broad.mit.edu 37 9 129595533 129595533 + Missense_Mutation SNP G A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr9:129595533G>A uc022bnm.1 + 0 745 c.745G>A c.(745-747)Gag>Aag p.E249K ZBTB43_uc004bql.3_Missense_Mutation_p.E249K|ZBTB43_uc010mxf.3_Missense_Mutation_p.E249K NM_014007 NP_054726 O43298 ZBT43_HUMAN Homo sapiens zinc finger and BTB domain containing 43 (ZBTB43), transcript variant 1, mRNA. 249 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 CGTGAAGCCCGAGCGCTTAGA 0.617000 6 18 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164733006 164733006 + Nonsense_Mutation SNP C A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr3:164733006C>A uc003fei.3 - 32 3967 c.3904G>T c.(3904-3906)Gga>Tga p.G1302* NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 1302 Sucrase. 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) GTTTCATTTCCTGAAATTGCT 0.348000 HNSCC(35;0.089) 32 34 1.36615e-20 1.51794e-20 1 1 0 DOCK2 1794 broad.mit.edu 37 5 169111328 169111328 + Silent SNP C T T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr5:169111328C>T uc003maf.3 + 7 815 c.735C>T c.(733-735)taC>taT p.Y245Y DOCK2_uc011der.2_Non-coding_Transcript NM_004946 NP_004937 Q92608 DOCK2_HUMAN Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA. 245 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding p.L244L(2) NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGTCTCTCTACGACCCCAACA 0.493000 198 66 0 0 1 0 0 TULP2 7288 broad.mit.edu 37 19 49398288 49398288 + Nonsense_Mutation SNP G A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr19:49398288G>A uc002pkz.2 - 5 632 c.481C>T c.(481-483)Cga>Tga p.R161* NM_003323 NP_003314 O00295 TULP2_HUMAN Homo sapiens tubby like protein 2 (TULP2), mRNA. 161 visual perception cytoplasm|extracellular region NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 22 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) CCCTTGCGTCGGATTCTCGGA 0.522000 92 24 0 0 1 0 0 ZNF71 58491 broad.mit.edu 37 19 57132975 57132975 + Missense_Mutation SNP G A A rs139335499 TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr19:57132975G>A uc002qnm.4 + 2 558 c.320G>A c.(319-321)cGt>cAt p.R107H ZNF71_uc021vcg.1_Missense_Mutation_p.R107H NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN Homo sapiens zinc finger protein 71 (ZNF71), mRNA. 107 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) CCCGTAAGGCGTGGCAAGAAC 0.582000 94 19 0 0 1 0 0 SLC7A2 6542 broad.mit.edu 37 8 17406213 17406213 + Missense_Mutation SNP T C C TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr8:17406213T>C uc011kye.2 + 3 727 c.679T>C c.(679-681)Tct>Cct p.S227P SLC7A2_uc011kyc.2_Missense_Mutation_p.S187P|SLC7A2_uc011kyd.2_Missense_Mutation_p.S227P NM_001164771 NP_001158243 P52569 CTR2_HUMAN Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA. 187 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) AGTAAAAGAGTCTGCTTGGGT 0.373000 155 76 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44178123 44178123 + Missense_Mutation SNP G T T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr22:44178123G>T uc003bdy.2 - 2 390 c.76C>A c.(76-78)Cat>Aat p.H26N EFCAB6_uc003bdz.2_Intron|EFCAB6_uc010gzi.2_5'UTR|EFCAB6_uc011aqa.2_5'UTR|EFCAB6_uc003bea.2_Missense_Mutation_p.H23N|EFCAB6_uc003beb.4_5'UTR NM_022785 NP_942153 Q5THR3 EFCB6_HUMAN Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA. 26 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) GGTGAAGAATGGGGTCTTGAA 0.373000 198 11 2.23348e-06 2.42185e-06 1 1 0 LRRC45 201255 broad.mit.edu 37 17 79985969 79985969 + Missense_Mutation SNP G A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr17:79985969G>A uc002kde.3 + 8 1234 c.994G>A c.(994-996)Gag>Aag p.E332K NM_144999 NP_659436 Q96CN5 LRC45_HUMAN Homo sapiens leucine rich repeat containing 45 (LRRC45), mRNA. 332 centrosome lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 5 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) AGCGGAGCAGGAGCAGCTGAG 0.682000 10 5 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274379 39274379 + Silent SNP G A A rs411996 by1000genomes TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr17:39274379G>A uc002hvz.3 - 0 228 c.189C>T c.(187-189)acC>acT p.T63T NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA. 63 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GGCGGCAGCAGGTGGGCTGGC 0.657000 96 4 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139164785 139164785 + Missense_Mutation SNP T G G TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr8:139164785T>G uc003yuy.3 - 12 2104 c.1933A>C c.(1933-1935)Agt>Cgt p.S645R FAM135B_uc003yux.3_Missense_Mutation_p.S546R|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.S207R|FAM135B_uc003yvb.3_Missense_Mutation_p.S207R NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 645 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AGGGTAGAACTTAGTGGATCA 0.488000 HNSCC(54;0.14) 111 41 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53855364 53855365 + Missense_Mutation DNP CA TG TG TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr19:53855364_53855365CA>TG uc010ydv.1 + 3 1553_1554 c.1436_1437CA>TG c.(1435-1437)aca>aTG p.T479M ZNF845_uc010ydw.1_Missense_Mutation_p.T479M NM_138374 NP_612383 Q96IR2 ZN845_HUMAN Homo sapiens zinc finger protein 845 (ZNF845), mRNA. 479 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TTCAGTCAGACATCATCCCTTG 0.381000 214 5 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85639647 85639647 + Missense_Mutation SNP T C C TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr4:85639647T>C uc003hpd.3 - 47 8090 c.7682A>G c.(7681-7683)cAt>cGt p.H2561R WDFY3_uc003hpe.1_Missense_Mutation_p.H172R NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA. 2561 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CACATAAAAATGCTCTTTACC 0.408000 54 72 0 0 1 0 0 ABCD3 5825 broad.mit.edu 37 1 94884036 94884036 + Missense_Mutation SNP T A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr1:94884036T>A uc010oto.2 + 0 104 c.2T>A c.(1-3)aTg>aAg p.M1K ABCD3_uc001dqm.4_Missense_Mutation_p.M1K|ABCD3_uc001dqn.4_Missense_Mutation_p.M1K|ABCD3_uc010otp.2_5'UTR|ABCD3_uc009wdr.3_Missense_Mutation_p.M1K NM_002858 NP_002849 P28288 ABCD3_HUMAN Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA. 1 Interaction with PEX19.|Targeting to peroxisomes. peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) GGCAGTGCCATGGCGGCCTTC 0.726000 31 3 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86123866 86123866 + Missense_Mutation SNP T G G TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr15:86123866T>G uc002blv.1 + 6 2737 c.2567T>G c.(2566-2568)cTt>cGt p.L856R AKAP13_uc002blt.1_Missense_Mutation_p.L856R|AKAP13_uc002blu.1_Missense_Mutation_p.L856R|AKAP13_uc010bne.1_5'Flank NM_007200 NP_009131 Q12802 AKP13_HUMAN Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA. 856 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity p.E855_G859>G(2) NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 GCTGCAGAGCTTCAGCACGGG 0.552000 125 49 0 0 1 0 0 DAPK1 1612 broad.mit.edu 37 9 90321631 90321631 + Silent SNP G A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr9:90321631G>A uc004apc.3 + 25 3783 c.3645G>A c.(3643-3645)gtG>gtA p.V1215V DAPK1_uc004apd.3_Silent_p.V1215V|DAPK1_uc011ltg.2_Silent_p.V1149V|DAPK1_uc011lth.2_Silent_p.V952V|DAPK1_uc004apg.2_Silent_p.V192V NM_004938 NP_004929 P53355 DAPK1_HUMAN Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA. 1215 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 TGGACTCGGTGTGCAGCACCA 0.642000 Chronic Lymphocytic Leukemia, Familial Clustering of 32 3 0 0 1 0 0 DPY19L1 23333 broad.mit.edu 37 7 34997678 34997678 + Missense_Mutation SNP G A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr7:34997678G>A uc003tem.4 - 10 1023 c.878C>T c.(877-879)tCt>tTt p.S293F NM_015283 NP_056098 Q2PZI1 D19L1_HUMAN Homo sapiens dpy-19-like 1 (C. elegans) (DPY19L1), mRNA. 293 integral to membrane endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 31 AAGTGCAAGAGAAATCTGGAA 0.279000 16 20 0 0 1 0 0 GEM 2669 broad.mit.edu 37 8 95262715 95262715 + Missense_Mutation SNP C A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr8:95262715C>A uc003ygi.3 - 4 838 c.714G>T c.(712-714)caG>caT p.Q238H GEM_uc003ygj.3_Missense_Mutation_p.Q238H NM_181702 NP_859053 P55040 GEM_HUMAN Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA. 238 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) GAAGGCGCACCTGTCGCACAA 0.582000 71 67 1.30681e-28 1.48877e-28 1 1 0 SCN1A 6323 broad.mit.edu 37 2 166892972 166892972 + Silent SNP A G G TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr2:166892972A>G uc002udo.4 - 17 3242 c.3015T>C c.(3013-3015)gaT>gaC p.D1005D SCN1A_uc010fpk.3_Silent_p.D977D|SCN1A_uc021vsb.1_Silent_p.D994D NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 1005 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TTTCATTATCATCATCAGTGG 0.343000 28 21 0 0 1 0 0 HIST2H2BF 440689 broad.mit.edu 37 1 149783741 149783741 + Silent SNP C G G TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr1:149783741C>G uc010pbk.2 - 0 188 c.138G>C c.(136-138)ctG>ctC p.L46L HIST2H2BF_uc010pbj.2_Silent_p.L46L|HIST2H2BF_uc001esr.3_Silent_p.L46L NM_001024599 NP_001019770 Q5QNW6 H2B2F_HUMAN Homo sapiens histone cluster 2, H2bf (HIST2H2BF), transcript variant 1, mRNA. 46 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) GGACCTGCTTCAGCACCTTGT 0.582000 365 264 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126329750 126329750 + Silent SNP A G G rs145529167 TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr4:126329750A>G uc003ifj.4 + 3 5721 c.5721A>G c.(5719-5721)gaA>gaG p.E1907E FAT4_uc011cgp.2_Silent_p.E205E NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 1907 Cadherin 18. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TAGATTATGAAGTACAGCAAT 0.328000 33 52 0 0 1 0 0 STAMBP 10617 broad.mit.edu 37 2 74058084 74058084 + Missense_Mutation SNP G A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr2:74058084G>A uc002sju.3 + 2 303 c.101G>A c.(100-102)cGt>cAt p.R34H STAMBP_uc002sjs.3_Missense_Mutation_p.R34H|STAMBP_uc002sjv.3_Missense_Mutation_p.R34H NM_006463 NP_998787 O95630 STABP_HUMAN Homo sapiens STAM binding protein (STAMBP), transcript variant 1, mRNA. 34 Interaction with CHMP3. JAK-STAT cascade|positive regulation of cell proliferation early endosome|membrane|nucleus metal ion binding|metallopeptidase activity|protein binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 18 ATTCCACCCCGTCGGTACTTC 0.517000 80 85 0 0 1 0 0 PDCD11 22984 broad.mit.edu 37 10 105179417 105179417 + Silent SNP C A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr10:105179417C>A uc001kwy.1 + 15 2316 c.2229C>A c.(2227-2229)ggC>ggA p.G743G NM_014976 NP_055791 Q14690 RRP5_HUMAN Homo sapiens programmed cell death 11 (PDCD11), mRNA. 743 S1 motif 8. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) AGGACTATGGCGTGTTCATCC 0.493000 89 3 1 1 1 1 0 ACOT4 122970 broad.mit.edu 37 14 74059007 74059007 + Missense_Mutation SNP A G G TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr14:74059007A>G uc001xoo.3 + 0 598 c.344A>G c.(343-345)gAg>gGg p.E115G NM_152331 NP_689544 Q8N9L9 ACOT4_HUMAN Homo sapiens acyl-CoA thioesterase 4 (ACOT4), mRNA. 115 acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process peroxisome carboxylesterase activity|palmitoyl-CoA hydrolase activity endometrium(1)|large_intestine(3)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(234;0.00331) CACGACCCCGAGCCTGGACGG 0.692000 20 9 0 0 1 0 0 TCP11L2 255394 broad.mit.edu 37 12 106717367 106717367 + Missense_Mutation SNP C T T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr12:106717367C>T uc001tln.3 + 5 889 c.715C>T c.(715-717)Cgc>Tgc p.R239C TCP11L2_uc001tll.3_Missense_Mutation_p.R239C|TCP11L2_uc001tlm.3_Missense_Mutation_p.R239C NM_152772 NP_689985 Q8N4U5 T11L2_HUMAN Homo sapiens t-complex 11 (mouse)-like 2 (TCP11L2), mRNA. 239 endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2) 15 GCACCTTCAACGCCAGTTGGT 0.338000 166 6 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137650106 137650106 + Silent SNP C T T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr9:137650106C>T uc004cfe.3 + 17 2281 c.1899C>T c.(1897-1899)gaC>gaT p.D633D NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 633 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GGGGTTTCGACGGCCTGGCTG 0.627000 10 67 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110839549 110839549 + Missense_Mutation SNP G T T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr13:110839549G>T uc001vqw.4 - 24 1786 c.1664C>A c.(1663-1665)aCa>aAa p.T555K NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 555 Triple-helical region. T -> P (in dbSNP:rs536174). angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding p.P555Q(2) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CGCTCTCCCTGTCATGCCGGG 0.572000 146 8 5.18039e-06 5.55042e-06 1 1 0 PPEF2 5470 broad.mit.edu 37 4 76797597 76797597 + Missense_Mutation SNP C T T rs140029551 byFrequency TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr4:76797597C>T uc003hix.3 - 10 1520 c.1163G>A c.(1162-1164)cGg>cAg p.R388Q PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.R388Q NM_006239 NP_006230 O14830 PPE2_HUMAN Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA. 388 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity p.R388W(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CCGCACCTGCCGGGAGAGCTC 0.672000 39 17 0 0 1 0 0 KIAA1324 57535 broad.mit.edu 37 1 109734382 109734382 + Missense_Mutation SNP C T T rs41279692 TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr1:109734382C>T uc021orb.1 + 12 1801 c.1580C>T c.(1579-1581)aCg>aTg p.T527M KIAA1324_uc009wex.2_Missense_Mutation_p.T477M|KIAA1324_uc010ovg.2_Missense_Mutation_p.T425M|KIAA1324_uc009wey.3_Missense_Mutation_p.T440M|KIAA1324_uc001dwr.3_Missense_Mutation_p.T177M NM_020775 NP_065826 Q6UXG2 K1324_HUMAN Homo sapiens KIAA1324 (KIAA1324), mRNA. 527 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane p.T527T(1) NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) CCTGTGGAGACGTGGAAAGGT 0.537000 23 134 0 0 1 0 0 CSNK1G1 53944 broad.mit.edu 37 15 64499781 64499781 + Missense_Mutation SNP C G G TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr15:64499781C>G uc002anf.3 - 6 1172 c.692G>C c.(691-693)aGa>aCa p.R231T CSNK1G1_uc002ane.3_Non-coding_Transcript|CSNK1G1_uc002ang.1_Missense_Mutation_p.R231T|CSNK1G1_uc002anh.1_Missense_Mutation_p.R231T|CSNK1G1_uc002anj.3_Missense_Mutation_p.R213T NM_022048 NP_071331 Q9HCP0 KC1G1_HUMAN Homo sapiens casein kinase 1, gamma 1 (CSNK1G1), mRNA. 231 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1) 13 CAAATCATCTCTCCGGCTTTG 0.453000 52 16 0 0 1 0 0 GPR65 8477 broad.mit.edu 37 14 88477718 88477718 + Nonsense_Mutation SNP T A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr14:88477718T>A uc021rxh.1 + 0 527 c.527T>A c.(526-528)tTa>tAa p.L176* GPR65_uc001xvv.3_Nonsense_Mutation_p.L176* NM_003608 NP_003599 Q8IYL9 PSYR_HUMAN Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA. 176 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 AAATACCCTTTAGAGAAATGG 0.408000 106 41 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38407208 38407208 + Silent SNP C T T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr5:38407208C>T uc003jlc.2 + 7 1453 c.1107C>T c.(1105-1107)tgC>tgT p.C369C EGFLAM_uc003jlb.2_Silent_p.C369C|EGFLAM_uc003jle.2_Silent_p.C135C|EGFLAM_uc003jlf.2_Intron NM_001205301 NP_001192230 Q63HQ2 EGFLA_HUMAN Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA. 369 EGF-like 1. cell junction|proteinaceous extracellular matrix|synapse p.R368Q(2) NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) GCTCGCGATGCCAGTGCACCC 0.552000 77 29 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 16021583 16021583 + Missense_Mutation SNP A T T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr8:16021583A>T uc010lsu.3 - 4 926 c.862T>A c.(862-864)Tta>Ata p.L288I MSR1_uc003wwz.3_Missense_Mutation_p.L270I|MSR1_uc003wxa.3_Missense_Mutation_p.L270I|MSR1_uc003wxb.3_Missense_Mutation_p.L270I|MSR1_uc011kxz.2_Missense_Mutation_p.L44I NM_138715 NP_619729 P21757 MSRE_HUMAN Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA. 270 Collagen-like. cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CCTTGAATTAAAGTGATATTT 0.303000 62 33 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79060510 79060511 + Missense_Mutation DNP TT GC GC TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr15:79060510_79060511TT>GC uc002bej.4 - 16 2820_2821 c.2609_2610AA>GC c.(2608-2610)caa>cGC p.Q870R ADAMTS7_uc010und.1_Missense_Mutation_p.Q446R NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA. 870 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 ACTTCCTCTGTTGGTCATCAGG 0.693000 36 3 0 0 1 0 0 LAMP5 24141 broad.mit.edu 37 20 9496748 9496748 + Silent SNP C G G TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr20:9496748C>G uc002wni.2 + 2 834 c.339C>G c.(337-339)cgC>cgG p.R113R LAMP5_uc010zrc.2_Intron NM_012261 NP_036393 Q9UJQ1 CT103_HUMAN Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA. 113 integral to membrane GGGTGGATCGCGCATATGCAC 0.617000 46 13 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186277987 186277987 + Missense_Mutation SNP C T T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr1:186277987C>T uc001gru.4 + 6 3187 c.3136C>T c.(3136-3138)Cca>Tca p.P1046S MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.P1005S|PRG4_uc009wyl.3_Missense_Mutation_p.P953S|PRG4_uc009wym.3_Missense_Mutation_p.P912S|PRG4_uc010poo.2_Non-coding_Transcript NM_005807 NP_005798 Q92954 PRG4_HUMAN Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA. 1046 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 AGTGAGAAAACCAAAGACGAC 0.448000 33 62 0 0 1 0 0 IGFN1 91156 broad.mit.edu 37 1 201195105 201195105 + Missense_Mutation SNP C T T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr1:201195105C>T uc001gwc.3 + 21 10770 c.10640C>T c.(10639-10641)gCa>gTa p.A3547V IGFN1_uc001gwb.3_Non-coding_Transcript NM_001164586 NP_001158058 Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA. autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TGGCACGAGGCAGCCGACCGC 0.667000 84 18 0 0 1 0 0 ELAVL2 1993 broad.mit.edu 37 9 23701589 23701589 + Silent SNP A G G TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr9:23701589A>G uc003zpu.3 - 4 776 c.501T>C c.(499-501)ggT>ggC p.G167G ELAVL2_uc003zps.3_Silent_p.G167G|ELAVL2_uc003zpt.3_Silent_p.G167G|ELAVL2_uc003zpv.3_Silent_p.G167G|ELAVL2_uc003zpw.3_Silent_p.G167G NM_004432 NP_004423 Q12926 ELAV2_HUMAN Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA. 167 RRM 2. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding p.G167D(1) breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) TAAACCCTACACCCCTTGATA 0.438000 107 5 0 0 1 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90578514 90578514 + Silent SNP G A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr6:90578514G>A uc003pnr.3 + 7 5701 c.5505G>A c.(5503-5505)aaG>aaA p.K1835K CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Silent_p.K1835K|CASP8AP2_uc011dzz.2_Silent_p.K1835K NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA. 1835 NCOA2-binding. cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) CTCACAAAAAGAGAAGAAACA 0.343000 10 7 0 0 1 0 0 TEX2 55852 broad.mit.edu 37 17 62290231 62290231 + Silent SNP G A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr17:62290231G>A uc002jed.3 - 1 1498 c.1347C>T c.(1345-1347)ctC>ctT p.L449L TEX2_uc002jec.3_Silent_p.L449L|TEX2_uc002jee.3_Silent_p.L449L NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN Homo sapiens testis expressed 2 (TEX2), mRNA. 449 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) CATCTTCCGCGAGCACCTCTG 0.507000 230 66 0 0 1 0 0 BIRC2 329 broad.mit.edu 37 11 102221100 102221100 + Nonsense_Mutation SNP C A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr11:102221100C>A uc001pgy.3 + 1 1914 c.515C>A c.(514-516)tCg>tAg p.S172* BIRC2_uc010ruq.2_Nonsense_Mutation_p.S123*|BIRC2_uc010rur.2_Nonsense_Mutation_p.S172* NM_001166 NP_001157 Q13490 BIRC2_HUMAN Homo sapiens baculoviral IAP repeat containing 2 (BIRC2), mRNA. 172 cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination CD40 receptor complex|cytosol|internal side of plasma membrane protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0144) ATCTCTTCATCGAGGACTAAC 0.418000 134 4 1 1 1 1 0 PACS1 55690 broad.mit.edu 37 11 65983735 65983735 + Splice_Site SNP G A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr11:65983735G>A uc001oha.2 + 5 939 c.805_splice c.e5+1 p.D269_splice PACS1_uc001ogz.1_Splice_Site_p.D269_splice NM_018026 NP_060496 Q6VY07 PACS1_HUMAN Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA. 269 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 AAGCTTTCTGGTAAGAAGCAT 0.498000 44 6 0 0 1 0 0 ACAP2 23527 broad.mit.edu 37 3 195102638 195102638 + Silent SNP G A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr3:195102638G>A uc003fun.4 - 2 466 c.225C>T c.(223-225)gtC>gtT p.V75V ACAP2_uc003fuo.3_Silent_p.V75V NM_012287 NP_036419 Q15057 ACAP2_HUMAN Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA. 75 BAR. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 TAACCTCAACGACAGCATCAT 0.323000 63 7 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544867 23544867 + Missense_Mutation SNP T C C TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr19:23544867T>C uc002nre.3 - 3 1027 c.914A>G c.(913-915)cAt>cGt p.H305R ZNF91_uc010xrj.2_Missense_Mutation_p.H273R NM_003430 NP_003421 Q05481 ZNF91_HUMAN Homo sapiens zinc finger protein 91 (ZNF91), mRNA. 305 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAATGGCTAAAAGC 0.413000 189 8 0 0 1 0 0 PIWIL3 440822 broad.mit.edu 37 22 25145722 25145722 + Missense_Mutation SNP T C C TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr22:25145722T>C uc003abd.1 - 9 1571 c.1154A>G c.(1153-1155)aAg>aGg p.K385R PIWIL3_uc011ajx.1_Missense_Mutation_p.K276R|PIWIL3_uc010gut.1_Missense_Mutation_p.K385R|PIWIL3_uc011ajy.1_Missense_Mutation_p.K276R NM_001008496 NP_001008496 Q7Z3Z3 PIWL3_HUMAN Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA. 385 PAZ. cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding p.K384*(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CGTTAGGCCCTTTTTCCATCT 0.468000 109 3 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57187809 57187809 + Missense_Mutation SNP T G G TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr7:57187809T>G uc010kzo.3 - 4 1584 c.1313A>C c.(1312-1314)aAa>aCa p.K438T NM_033273 NP_150376 Q96JC4 ZN479_HUMAN Homo sapiens zinc finger protein 479 (ZNF479), mRNA. 438 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) TTCTTCACATTTGTAGGGTCT 0.453000 158 7 0 0 1 0 0 LOC650623 650623 broad.mit.edu 37 10 81443781 81443781 + RNA SNP A T T rs143569743 by1000genomes TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr10:81443781A>T uc010qlu.2 + 0 c.1051A>T Homo sapiens BEN domain containing 3 pseudogene (LOC650623), non-coding RNA. GACCACAAAGACGAGGAGGAG 0.622000 26 5 0 0 1 0 0 NSA2 10412 broad.mit.edu 37 5 74072447 74072447 + Missense_Mutation SNP C T T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr5:74072447C>T uc003kdk.1 + 5 817 c.734C>T c.(733-735)aCc>aTc p.T245I NM_014886 NP_055701 O95478 NSA2_HUMAN Homo sapiens NSA2 ribosome biogenesis homolog (S. cerevisiae) (NSA2), mRNA. 245 rRNA processing nucleolus|ribonucleoprotein complex breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1) 7 GCCCAGGTTACCAACAATCCT 0.318000 127 96 0 0 1 0 0 SLC6A18 348932 broad.mit.edu 37 5 1232963 1232963 + Silent SNP G A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr5:1232963G>A uc003jby.2 + 2 522 c.399G>A c.(397-399)ccG>ccA p.P133P NM_182632 NP_872438 Q96N87 S6A18_HUMAN Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA. 133 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TCCAGCACCCGCTGCCCTGGA 0.642000 203 48 0 0 1 0 0 SGCA 6442 broad.mit.edu 37 17 48246488 48246488 + Missense_Mutation SNP C G G TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr17:48246488C>G uc002iqi.3 + 5 656 c.620C>G c.(619-621)tCt>tGt p.S207C SGCA_uc010wmh.1_Missense_Mutation_p.S105C|SGCA_uc002iqj.3_Intron|SGCA_uc010wmi.2_Non-coding_Transcript|BC126901_uc010dbn.1_5'Flank NM_000023 NP_000014 Q16586 SGCA_HUMAN Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA. 207 muscle contraction|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma calcium ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1) 14 TCACCTTTTTCTACTTGCCTG 0.592000 OREG0024558 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 89 67 0 0 1 0 0 PCP4L1 654790 broad.mit.edu 37 1 161254154 161254156 + In_Frame_Del DEL GGA - - TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr1:161254154_161254156delGGA uc001gad.3 + 2 338_340 c.90_92delGGA c.(88-93)gcggag>gcg p.E35del NM_001102566 NP_001096036 A6NKN8 PC4L1_HUMAN Homo sapiens Purkinje cell protein 4 like 1 (PCP4L1), mRNA. 35 p.E35delE(2)|p.A30A(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(52;4.16e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TCAAGAAGGCGGAGGAGGAGGAG 0.488 --- 382 --- --- 8 --- PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG - - rs112040677 TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr2:131129929_131129934delGACGGG uc002trc.3 + 12 1214_1219 c.1113_1118delGACGGG c.(1111-1119)cagacgggg>cag p.TG378del PTPN18_uc002trb.3_In_Frame_Del_p.TG271del|PTPN18_uc002tre.3_In_Frame_Del_p.TG29del NM_014369 NP_055184 Q99952 PTN18_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA. 378 Missing (in Ref. 1; CAA56105). cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity p.T378_G379delTG(2) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.777 --- 4 --- --- 3 --- VCAN 1462 broad.mit.edu 37 5 82816057 82816057 + Frame_Shift_Del DEL T - - TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr5:82816057delT uc003kii.3 + 6 2288 c.1932delT c.(1930-1932)cctfs p.P644fs VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Frame_Shift_Del_p.P644fs|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN Homo sapiens versican (VCAN), transcript variant 1, mRNA. 644 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 p.T643I(1) 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) CTACTACACCTTTTCCATCAC 0.368 --- 849 --- --- 8 --- PTEN 5728 broad.mit.edu 37 10 89693002 89693003 + Frame_Shift_Ins INS - A A TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr10:89693002_89693003insA uc001kfb.3 + 4 1518_1519 c.486_487insA c.(484-489)gacaaafs p.D162fs PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 162 Phosphatase tensin-type. T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development PML body|cytosol|internal side of plasma membrane PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K163*(4)|p.R161I(2)|p.Y27fs*1(2)|p.R161K(2)|p.Y27_N212>Y(2)|p.D162fs*8(2)|p.R161G(1)|p.K163_V166>NKGE(1)|p.D162H(1)|p.D162V(1)|p.F56fs*2(1)|p.D162G(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GGACCAGAGACAAAAAGGTAAG 0.351 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) --- 8 --- --- 43 --- HPS1 3257 broad.mit.edu 37 10 100186987 100186987 + Frame_Shift_Del DEL G - - TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr10:100186987delG uc021pwv.1 - 10 1218 c.972delC c.(970-972)cccfs p.P324fs HPS1_uc010qpg.2_5'Flank|HPS1_uc009xwb.3_Non-coding_Transcript|HPS1_uc010qph.1_Frame_Shift_Del_p.P324fs NM_000195 NP_000186 Q92902 HPS1_HUMAN Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA. 324 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity p.M325fs*128(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) GGGCATCCATGGGGGGGGTGC 0.572 Hermansky-Pudlak syndrome --- 4 --- --- 2 --- ZCCHC14 23174 broad.mit.edu 37 16 87445976 87445979 + Frame_Shift_Del DEL GCAG - - rs143691635 TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr16:87445976_87445979delGCAG uc002fjz.1 - 11 1964_1967 c.1937_1940delCTGC c.(1936-1941)cctgctfs p.P646fs ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Frame_Shift_Del_p.P422fs NM_015144 NP_055959 Q8WYQ9 ZCH14_HUMAN Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA. 646 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) GGCAGAATCAGCAGGAACAGATGA 0.583 --- 325 --- --- 73 --- FANCA 2175 broad.mit.edu 37 16 89806404 89806405 + Frame_Shift_Del DEL CT - - TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr16:89806404_89806405delCT uc002fou.1 - 38 3973_3974 c.3931_3932delAG c.(3931-3933)agtfs p.S1311fs ZNF276_uc010ciq.3_3'UTR|ZNF276_uc002foq.4_3'UTR|ZNF276_uc010cir.3_Non-coding_Transcript|ZNF276_uc002for.4_3'UTR|ZNF276_uc010cis.3_3'UTR|ZNF276_uc002fos.4_3'UTR|ZNF276_uc002fot.4_Non-coding_Transcript|ZNF276_uc010vpm.2_3'UTR|FANCA_uc010vpn.1_Frame_Shift_Del_p.S1311fs|FANCA_uc010vpo.2_Frame_Shift_Del_p.S397fs NM_000135 NP_000126 O15360 FANCA_HUMAN Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA. 1311 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) TTTCTTACCACTCTCTGTCAAC 0.510 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia --- 214 --- --- 70 --- MYO1C 4641 broad.mit.edu 37 17 1378283 1378284 + Frame_Shift_Ins INS - T T TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr17:1378283_1378284insT uc002fsp.3 - 14 1837_1838 c.1617_1618insA c.(1615-1620)cgagggfs p.R539fs MYO1C_uc002fsn.3_Frame_Shift_Ins_p.R520fs|MYO1C_uc002fso.3_Frame_Shift_Ins_p.R504fs|MYO1C_uc010vqj.1_Frame_Shift_Ins_p.R504fs|MYO1C_uc010vqk.1_Frame_Shift_Ins_p.R515fs NM_001080779 NP_203693 O00159 MYO1C_HUMAN Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA. 539 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane ATP binding|actin binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CGGAATTCCCCTCGGCCCAGAG 0.668 --- 4 --- --- 2 --- DNAH9 1770 broad.mit.edu 37 17 11837333 11837333 + Frame_Shift_Del DEL C - - TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr17:11837333delC uc002gne.3 + 64 12502 c.12434delC c.(12433-12435)tctfs p.S4145fs DNAH9_uc010coo.3_Frame_Shift_Del_p.S3363fs|DNAH9_uc002gnf.3_Frame_Shift_Del_p.S457fs NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 4145 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGAGAACTGTCTTTGGCCCCA 0.502 --- 147 --- --- 73 --- NF1 4763 broad.mit.edu 37 17 29553542 29553542 + Frame_Shift_Del DEL C - - TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr17:29553542delC uc002hgg.3 + 17 2474 c.2091delC c.(2089-2091)aacfs p.N697fs NF1_uc002hgh.3_Frame_Shift_Del_p.N697fs|NF1_uc010csn.2_Frame_Shift_Del_p.N557fs|NF1_uc002hgi.1_5'UTR NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 697 MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.?(4)|p.W696fs*1(2)|p.W696*(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TTCTGTGGAACCCTGACACTG 0.542 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) --- 44 --- --- 113 --- GATA6 2627 broad.mit.edu 37 18 19752073 19752075 + In_Frame_Del DEL ACC - - TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr18:19752073_19752075delACC uc002ktt.1 + 1 1233_1235 c.968_970delACC c.(967-972)taccac>tac p.H333del GATA6_uc002ktu.1_In_Frame_Del_p.H333del NM_005257 NP_005248 Q92908 GATA6_HUMAN Homo sapiens GATA binding protein 6 (GATA6), mRNA. 333 Poly-His. blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 18 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) AACGGGACGTaccaccaccacca 0.749 --- 4 --- --- 2 --- NUCB1 4924 broad.mit.edu 37 19 49425109 49425111 + In_Frame_Del DEL AGC - - TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr19:49425109_49425111delAGC uc002plb.4 + 11 1533_1535 c.1199_1201delAGC c.(1198-1203)aagcag>aag p.Q407del Mir_324_uc021uxc.1_5'Flank|NUCB1_uc002pld.3_In_Frame_Del_p.Q70del NM_006184 NP_006175 Q02818 NUCB1_HUMAN Homo sapiens nucleobindin 1 (NUCB1), mRNA. 407 Poly-Gln. ER-Golgi intermediate compartment|Golgi apparatus|extracellular space|membrane|microtubule cytoskeleton DNA binding|calcium ion binding cervix(1)|endometrium(4)|large_intestine(4)|lung(8) 17 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) Gagcagcggaagcagcagcagca 0.640 --- 155 --- --- 8 --- MICAL3 57553 broad.mit.edu 37 22 18314825 18314827 + In_Frame_Del DEL CTC - - TCGA-FW-A3I3-06A-11D-A21A-08 TCGA-FW-A3I3-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fd25d1-50ab-411d-808f-99c7ab5204e8 adb99082-b96d-44ec-a501-42b05ca8dd7c g.chr22:18314825_18314827delCTC uc002zng.4 - 20 3201_3203 c.2848_2850delGAG c.(2848-2850)gagdel p.E950del MICAL3_uc011agl.2_In_Frame_Del_p.E950del NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA. 950 Glu-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) GCAGGCGAGGctcctcctcctcc 0.557 --- 41 --- --- 7 ---