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 MST1P9 11223 broad.mit.edu 37 1 17084454 17084454 + Silent SNP G G C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr1:17084454G>C uc010ock.2 - 11 1644 c.1644C>G c.(1642-1644)gtC>gtG p.V548V CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Silent_p.V148V Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA. breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1) 34 GCTTGAGCAGGACAAGCTGGG 0.592 DNAJB4 11080 broad.mit.edu 37 1 78470832 78470832 + Missense_Mutation SNP A A G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr1:78470832A>G uc001dij.3 + 0 197 c.38A>G c.(37-39)aAa>aGa p.K13R DNAJB4_uc010orn.2_Intron NM_007034 NP_008965 Q9UDY4 DNJB4_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 4 (DNAJB4), mRNA. 13 J. protein folding|response to heat|response to unfolded protein cytoplasm|plasma membrane heat shock protein binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 GGAATTGAGAAAGGAGCTTCA 0.368 ODF2L 57489 broad.mit.edu 37 1 86822223 86822223 + Silent SNP C C T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr1:86822223C>T uc001dll.2 - 13 1784 c.1422G>A c.(1420-1422)gcG>gcA p.A474A ODF2L_uc001dlp.3_Intron|ODF2L_uc010osg.2_Intron|ODF2L_uc001dlm.2_Silent_p.A445A NM_001007022 NP_001007023 Q9ULJ1 ODF2L_HUMAN Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA. 474 centrosome endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 24 all cancers(265;0.0313)|Epithelial(280;0.0611) TCCGTTCCGCCGCCGTCAAGG 0.547 ZNF644 84146 broad.mit.edu 37 1 91403294 91403296 + In_Frame_Del DEL CTT CTT - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr1:91403294_91403296delCTT uc001dnw.3 - 3 3717_3719 c.3434_3436delAAG c.(3433-3438)gaaggg>ggg p.E1145del ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron NM_201269 NP_958357 Q9H582 ZN644_HUMAN Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA. 1145 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E1144K(1) breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) AAATTCAGCCCTTCTTCTTCTGA 0.365 TMED5 50999 broad.mit.edu 37 1 93620253 93620256 + Frame_Shift_Del DEL CAAA CAAA - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr1:93620253_93620256delCAAA uc001dpn.3 - 3 1108_1111 c.661_664delTTTG c.(661-666)tttgaafs p.F221fs TMED5_uc001dpp.3_Non-coding_Transcript|TMED5_uc001dpo.3_3'UTR NM_016040 NP_057124 Q9Y3A6 TMED5_HUMAN Homo sapiens transmembrane emp24 protein transport domain containing 5 (TMED5), transcript variant 1, mRNA. 221 transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 6 all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188) all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797) CTCTTATCTTCAAACAGACTCTTC 0.348 SSR2 6746 broad.mit.edu 37 1 155989853 155989853 + Nonsense_Mutation SNP C C A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr1:155989853C>A uc001fmx.3 - 1 186 c.106G>T c.(106-108)Gag>Tag p.E36* SSR2_uc010pgw.2_Nonsense_Mutation_p.E55* NM_003145 NP_003136 P43308 SSRB_HUMAN Homo sapiens signal sequence receptor, beta (translocon-associated protein beta) (SSR2), mRNA. 36 cotranslational protein targeting to membrane endoplasmic reticulum membrane|integral to membrane signal sequence binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1) 10 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) TCTCGTCCCTCCACGGCGTAT 0.483 OR6K2 81448 broad.mit.edu 37 1 158670186 158670186 + Missense_Mutation SNP A A G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr1:158670186A>G uc001fsu.1 - 0 257 c.257T>C c.(256-258)cTt>cCt p.L86P NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA. 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) CCTCTCACTAAGCAGGCTAGA 0.458 NDUFS2 4720 broad.mit.edu 37 1 161182256 161182256 + Nonsense_Mutation SNP C C T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr1:161182256C>T uc001fyv.3 + 10 1550 c.1102C>T c.(1102-1104)Cga>Tga p.R368* NDUFS2_uc001fyw.3_Nonsense_Mutation_p.R368*|NDUFS2_uc010pkj.2_Nonsense_Mutation_p.R317*|FCER1G_uc001fyz.1_5'Flank|FCER1G_uc001fza.1_5'Flank NM_004550 NP_004541 O75306 NDUS2_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) (NDUFS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 368 mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1) 18 all_cancers(52;1.16e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) NADH(DB00157) TCCACCTAAGCGAGCAGAGAT 0.527 NOS1AP 9722 broad.mit.edu 37 1 162257211 162257213 + In_Frame_Del DEL GAA GAA - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr1:162257211_162257213delGAA uc001gbv.2 + 2 642_644 c.255_257delGAA c.(253-258)ctgaag>ctg p.K90del NOS1AP_uc010pkr.1_In_Frame_Del_p.K92del|NOS1AP_uc001gbw.2_In_Frame_Del_p.K92del|NOS1AP_uc010pks.1_Non-coding_Transcript NM_014697 NP_055512 O75052 CAPON_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA. 90 PID. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) AAGTGATTCTGAAGAAGAAGAAA 0.433 TNNT2 7139 broad.mit.edu 37 1 201331099 201331101 + In_Frame_Del DEL TCT TCT - rs121964859 TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr1:201331099_201331101delTCT uc001gwf.3 - 12 719_721 c.650_652delAGA c.(649-654)aagatt>att p.K217del TNNT2_uc009wzn.3_5'Flank|TNNT2_uc009wzo.3_5'Flank|TNNT2_uc009wzp.3_Non-coding_Transcript|TNNT2_uc021phc.1_In_Frame_Del_p.K210del|TNNT2_uc001gwg.3_In_Frame_Del_p.K207del|TNNT2_uc001gwh.3_In_Frame_Del_p.K198del|TNNT2_uc001gwi.3_In_Frame_Del_p.K177del|TNNT2_uc009wzr.3_In_Frame_Del_p.K148del NM_000364 NP_000355 P45379 TNNT2_HUMAN Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA. 220 ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9) 20 TCAGCCAGAATCTTCTTCTTCTT 0.576 OREG0014076 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) JMJD1C 221037 broad.mit.edu 37 10 64960280 64960282 + In_Frame_Del DEL TTC TTC - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr10:64960280_64960282delTTC uc001jmn.3 - 10 5530_5532 c.5230_5232delGAA c.(5230-5232)gaadel p.E1744del JMJD1C_uc001jml.3_In_Frame_Del_p.E1525del|JMJD1C_uc001jmm.3_In_Frame_Del_p.E1456del|JMJD1C_uc010qiq.2_In_Frame_Del_p.E1562del|JMJD1C_uc009xpi.3_In_Frame_Del_p.E1562del|JMJD1C_uc009xpj.2_Intron|JMJD1C_uc009xpk.1_Intron NM_032776 NP_116165 Q15652 JHD2C_HUMAN Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA. 1744 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) AGTGAGCTGGTTCTTCTCCTTTT 0.350 CYP2E1 1571 broad.mit.edu 37 10 135351261 135351261 + Missense_Mutation SNP G G C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr10:135351261G>C uc001lnj.1 + 7 1195 c.1162G>C c.(1162-1164)Gtc>Ctc p.V388L CYP2E1_uc001lnk.1_Missense_Mutation_p.V251L|CYP2E1_uc009ybl.1_Missense_Mutation_p.V189L|CYP2E1_uc009ybm.1_Missense_Mutation_p.V42L|CYP2E1_uc001lnl.1_Missense_Mutation_p.V189L NM_000773 NP_000764 P05181 CP2E1_HUMAN Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA. 388 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) CTAGGGCACAGTCGTAGTGCC 0.398 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of MUC5B 727897 broad.mit.edu 37 11 1257593 1257593 + Missense_Mutation SNP G G A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr11:1257593G>A uc001lta.3 + MUC5B_uc009yct.2_Intron NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GTCGGCTTCCGGCAGCGTCTG 0.677 CHRNA10 57053 broad.mit.edu 37 11 3687783 3687783 + Missense_Mutation SNP T T C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr11:3687783T>C uc001lyf.3 - 4 979 c.907A>G c.(907-909)Atg>Gtg p.M303V CHRNA10_uc010qxt.2_Missense_Mutation_p.M97V|CHRNA10_uc010qxu.2_Missense_Mutation_p.M97V NM_020402 NP_065135 Q9GZZ6 ACH10_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA. 303 elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic cell junction|postsynaptic membrane calcium channel activity|receptor activity|receptor binding breast(1)|endometrium(2)|lung(3)|ovary(1) 7 Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577) BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192) Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116) ATAGTGGCCATGTAGTACTTC 0.507 CNGA4 1262 broad.mit.edu 37 11 6261617 6261617 + Missense_Mutation SNP G G A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr11:6261617G>A uc001mco.3 + 3 708 c.593G>A c.(592-594)cGt>cAt p.R198H CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Missense_Mutation_p.R158H NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA. 198 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCTTCGGGCGTGACGCATGG 0.547 OR10A6 390093 broad.mit.edu 37 11 7950020 7950020 + Silent SNP G G A rs141585665 TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr11:7950020G>A uc010rbh.2 - 0 190 c.190C>T c.(190-192)Ctg>Ttg p.L64L NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA. 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GATAAGTTCAGGAGAAACAGG 0.443 SYT13 57586 broad.mit.edu 37 11 45268002 45268002 + Missense_Mutation SNP C C T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr11:45268002C>T uc001myq.2 - 4 1034 c.908G>A c.(907-909)cGc>cAc p.R303H SYT13_uc009yku.1_Missense_Mutation_p.R159H NM_020826 NP_001234916 Q7L8C5 SYT13_HUMAN Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA. 303 C2 2. transport vesicle p.N302N(1) breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2) 23 CACCAGGAGGCGGTTGGCAGC 0.572 PSMC3 5702 broad.mit.edu 37 11 47446172 47446173 + Frame_Shift_Del DEL TT TT - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr11:47446172_47446173delTT uc001nfh.2 - 3 569_570 c.375_376delAA c.(373-378)aaaaccfs p.K125fs NM_002804 NP_002795 P17980 PRS6A_HUMAN Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 3 (PSMC3), mRNA. 125 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity p.K125N(2) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1) 17 Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13) CGTGTAGAGGTTTTGATCACAG 0.545 SSRP1 6749 broad.mit.edu 37 11 57093935 57093937 + In_Frame_Del DEL TTC TTC - rs142261788 TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr11:57093935_57093937delTTC uc001njt.3 - 16 2341_2343 c.2074_2076delGAA c.(2074-2076)gaadel p.E692del TNKS1BP1_uc001njs.3_5'Flank|TNKS1BP1_uc009ymd.1_5'Flank NM_003146 NP_003137 Q08945 SSRP1_HUMAN Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA. 692 Ser-rich. DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4) 23 TACTGGCTAGTTCTTCTTCTTCA 0.552 ODZ4 26011 broad.mit.edu 37 11 78440577 78440577 + Missense_Mutation SNP T T C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr11:78440577T>C uc001ozl.4 - 21 3713 c.3250A>G c.(3250-3252)Atc>Gtc p.I1084V NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 1084 signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 TTGAAGGGGATGGTCGGGTGG 0.567 TMEM126B 55863 broad.mit.edu 37 11 85342819 85342819 + Missense_Mutation SNP T T C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr11:85342819T>C uc001pap.3 + 1 200 c.170T>C c.(169-171)aTa>aCa p.I57T TMEM126B_uc001pan.2_Missense_Mutation_p.I27T|TMEM126B_uc001paq.2_Missense_Mutation_p.I57T|TMEM126B_uc001pao.3_Missense_Mutation_p.I27T|TMEM126B_uc021qog.1_Missense_Mutation_p.I37T|TMEM126B_uc021qoh.1_Intron NM_018480 NP_060950 Q8IUX1 T126B_HUMAN Homo sapiens transmembrane protein 126B (TMEM126B), transcript variant 1, mRNA. 57 integral to membrane kidney(1)|large_intestine(2)|lung(3)|prostate(1) 7 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) ATAGAAATCATAGAAAAAAAT 0.353 FOLH1B 219595 broad.mit.edu 37 11 89424051 89424054 + Frame_Shift_Del DEL AAAC AAAC - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr11:89424051_89424054delAAAC uc001pda.3 + 10 1227_1230 c.701_704delAAAC c.(700-705)gaaacafs p.E234fs NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN Homo sapiens folate hydrolase 1B (FOLH1B), mRNA. 234 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity p.T235I(2) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TTTCTGTAGGAAACAAACAAATTC 0.319 ARHGAP32 9743 broad.mit.edu 37 11 128840825 128840825 + Missense_Mutation SNP G G C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr11:128840825G>C uc009zcp.3 - 21 4241 c.4241C>G c.(4240-4242)cCc>cGc p.P1414R ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Missense_Mutation_p.P373R|ARHGAP32_uc001qez.3_Missense_Mutation_p.P1065R NM_001142685 NP_055530 A7KAX9 RHG32_HUMAN Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA. 1414 Interaction with GAB2. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 CCTGGTGGGGGGCAGTGGTGC 0.592 KIAA1467 57613 broad.mit.edu 37 12 13208755 13208755 + Missense_Mutation SNP G G A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr12:13208755G>A uc001rbi.3 + 1 331 c.308G>A c.(307-309)cGc>cAc p.R103H NM_020853 NP_065904 A2RU67 K1467_HUMAN Homo sapiens KIAA1467 (KIAA1467), mRNA. 103 integral to membrane NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4) 36 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) TCATATGTGCGCACGTCTGTC 0.587 HIST4H4 121504 broad.mit.edu 37 12 14923761 14923761 + Silent SNP A A G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr12:14923761A>G uc001rcf.4 - 0 305 c.258T>C c.(256-258)gaT>gaC p.D86D HIST4H4_uc001rce.3_Non-coding_Transcript NM_175054 NP_778224 P62805 H4_HUMAN Homo sapiens histone cluster 4, H4 (HIST4H4), mRNA. 86 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2) 6 CGTACACCACATCCATGGCCG 0.587 OREG0021698 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ARID2 196528 broad.mit.edu 37 12 46245922 46245923 + Frame_Shift_Del DEL AG AG - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr12:46245922_46245923delAG uc001ros.1 + 14 4016_4017 c.4016_4017delAG c.(4015-4017)cagfs p.Q1339fs ARID2_uc001ror.3_Frame_Shift_Del_p.Q1339fs|ARID2_uc009zkg.1_Frame_Shift_Del_p.Q795fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.Q966fs|ARID2_uc001rou.1_Frame_Shift_Del_p.Q673fs NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 1339 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TCTGGGAAACAGAACTCAGAAC 0.371 """N, S, F""" hepatocellular carcinoma FREM2 341640 broad.mit.edu 37 13 39425866 39425866 + Silent SNP A A G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr13:39425866A>G uc001uwv.3 + 10 7095 c.6786A>G c.(6784-6786)gaA>gaG p.E2262E FREM2_uc001uww.3_Silent_p.E348E NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA. 2262 Calx-beta 5. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GTGTCACTGAACCCAAAGAAC 0.398 AKAP11 11215 broad.mit.edu 37 13 42877884 42877884 + Missense_Mutation SNP A A G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr13:42877884A>G uc001uys.2 + 7 5177 c.5002A>G c.(5002-5004)Agt>Ggt p.S1668G NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA. 1668 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) AGAGCTGAGCAGTACCAGCCT 0.507 RCBTB2 1102 broad.mit.edu 37 13 49089796 49089796 + Missense_Mutation SNP G G C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr13:49089796G>C uc010tgg.2 - 3 430 c.139C>G c.(139-141)Cta>Gta p.L47V RCBTB2_uc001vci.3_Missense_Mutation_p.L18V|RCBTB2_uc010tgh.2_5'UTR|RCBTB2_uc001vch.3_Missense_Mutation_p.L42V|RCBTB2_uc001vcj.3_Missense_Mutation_p.L46V|RCBTB2_uc010acv.1_Non-coding_Transcript|RCBTB2_uc010tgi.1_Missense_Mutation_p.L18V NM_001268 NP_001259 O95199 RCBT2_HUMAN Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 (RCBTB2), mRNA. 42 Ran guanyl-nucleotide exchange factor activity breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) ATTAACTGTAGTTCTTCTTCA 0.363 CTAGE10P 220429 broad.mit.edu 37 13 50465740 50465740 + Silent SNP T T C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr13:50465740T>C uc001vdk.2 + 0 1196 c.1014T>C c.(1012-1014)atT>atC p.I338I Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA. AAATCTATATTCAGTTATCTG 0.333 RNASE4 6038 broad.mit.edu 37 14 21167918 21167918 + Missense_Mutation SNP C C T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr14:21167918C>T uc021rol.1 + 0 388 c.388C>T c.(388-390)Cgt>Tgt p.R130C RNASE4_uc001vxy.4_Missense_Mutation_p.R130C|RNASE4_uc001vxx.4_Non-coding_Transcript|RNASE4_uc001vya.3_Missense_Mutation_p.R130C NM_194431 NP_919412 P34096 RNAS4_HUMAN Homo sapiens ribonuclease, RNase A family, 4 (RNASE4), transcript variant 3, mRNA. 130 mRNA cleavage extracellular region nucleic acid binding|pancreatic ribonuclease activity central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1) 6 all_cancers(95;0.00304) Epithelial(56;5.13e-07)|all cancers(55;4.73e-06) GBM - Glioblastoma multiforme(265;0.0133) GAGCACTAGACGTGTTGTCAT 0.527 GMPR2 51292 broad.mit.edu 37 14 24707579 24707581 + In_Frame_Del DEL GAA GAA - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr14:24707579_24707581delGAA uc001wnr.3 + 8 1207_1209 c.825_827delGAA c.(823-828)atgaag>atg p.K277del GMPR2_uc001wnu.2_In_Frame_Del_p.K241del|GMPR2_uc001wns.3_In_Frame_Del_p.K277del|GMPR2_uc001wnv.3_In_Frame_Del_p.K114del|GMPR2_uc010alk.1_In_Frame_Del_p.K277del|GMPR2_uc001wnw.3_In_Frame_Del_p.K277del|GMPR2_uc001wnx.3_In_Frame_Del_p.K295del|GMPR2_uc010all.3_In_Frame_Del_p.K249del|GMPR2_uc010toe.1_In_Frame_Del_p.K277del NM_001002001 NP_001002002 Q9P2T1 GMPR2_HUMAN Homo sapiens guanosine monophosphate reductase 2 (GMPR2), transcript variant 3, mRNA. 277 nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage cytosol GMP reductase activity|metal ion binding large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(265;0.0181) AAATGGCCATGAAGAAGTATGCT 0.537 DUOX2 50506 broad.mit.edu 37 15 45401132 45401132 + Missense_Mutation SNP C C T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr15:45401132C>T uc001zun.3 - 11 1456 c.1253G>A c.(1252-1254)gGc>gAc p.G418D DUOX2_uc010bea.3_Missense_Mutation_p.G418D NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 418 Peroxidase-like; mediates peroxidase activity (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) GGAGAATTTGCCAGGGCCAGG 0.552 ALDH1A2 8854 broad.mit.edu 37 15 58256142 58256142 + Missense_Mutation SNP G G A rs137957671 TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr15:58256142G>A uc002aex.3 - 8 1300 c.1027C>T c.(1027-1029)Cgg>Tgg p.R343W ALDH1A2_uc010ugv.2_Missense_Mutation_p.R322W|ALDH1A2_uc002aey.3_Missense_Mutation_p.R305W|ALDH1A2_uc010ugw.2_Missense_Mutation_p.R314W|ALDH1A2_uc002aew.3_Missense_Mutation_p.R247W NM_003888 NP_733798 O94788 AL1A2_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA. 343 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CTCTTGGCCCGCTCCACGCTT 0.527 SCAPER 49855 broad.mit.edu 37 15 77059334 77059336 + In_Frame_Del DEL TTC TTC - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr15:77059334_77059336delTTC uc002bby.3 - 9 1401_1403 c.1342_1344delGAA c.(1342-1344)gaadel p.E448del SCAPER_uc002bbx.3_In_Frame_Del_p.E202del|SCAPER_uc002bbz.1_In_Frame_Del_p.E319del|SCAPER_uc002bca.1_In_Frame_Del_p.E313del|SCAPER_uc002bcb.1_In_Frame_Del_p.E454del|SCAPER_uc002bcc.1_In_Frame_Del_p.E448del NM_020843 NP_065894 Q9BY12 SCAPE_HUMAN Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA. 447 Glu-rich. endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 TAGTTAACTGTTCTTCTTCAGCA 0.355 SLC28A1 9154 broad.mit.edu 37 15 85476431 85476431 + Missense_Mutation SNP C C T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr15:85476431C>T uc002blg.3 + 12 1341 c.1139C>T c.(1138-1140)gCc>gTc p.A380V SLC28A1_uc010bnb.3_Missense_Mutation_p.A380V|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.A380V|SLC28A1_uc010upg.1_Missense_Mutation_p.A380V NM_004213 NP_004204 O00337 S28A1_HUMAN Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA. 380 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) TGTGCCTTGGCCCTCTCCAAG 0.562 MVP 9961 broad.mit.edu 37 16 29855969 29855969 + Missense_Mutation SNP G G A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr16:29855969G>A uc002dui.3 + 10 1942 c.1790G>A c.(1789-1791)cGc>cAc p.R597H BOLA2_uc010bzb.1_Intron|MVP_uc002duj.3_Missense_Mutation_p.R597H|MVP_uc010vea.2_Missense_Mutation_p.R191H NM_005115 NP_059447 Q14764 MVP_HUMAN Homo sapiens major vault protein (MVP), transcript variant 2, mRNA. 597 mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1) 27 AACTCAGCCCGCATCATTCGC 0.617 MT1A 4489 broad.mit.edu 37 16 56673190 56673190 + Missense_Mutation SNP T T C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr16:56673190T>C uc002ejq.3 + 1 116 c.43T>C c.(43-45)Tgc>Cgc p.C15R MT1A_uc002eji.3_Intron NM_005946 NP_005937 P04731 MT1A_HUMAN Homo sapiens metallothionein 1A (MT1A), mRNA. 15 Beta. cytoplasm cadmium ion binding|copper ion binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(1) 3 CTCCTGCACCTGCACTGGCTC 0.512 SLC12A3 6559 broad.mit.edu 37 16 56901059 56901059 + Silent SNP C C T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr16:56901059C>T uc002ekd.4 + 1 389 c.360C>T c.(358-360)ggC>ggT p.G120G SLC12A3_uc010ccm.3_Silent_p.G120G|SLC12A3_uc010ccn.3_Silent_p.G119G NM_000339 NP_000330 P55017 S12A3_HUMAN Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA. 120 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) TGGTGGAGGGCGAGGCAGGCA 0.652 CNOT1 23019 broad.mit.edu 37 16 58562381 58562385 + Frame_Shift_Del DEL TTAGA TTAGA - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr16:58562381_58562385delTTAGA uc002env.3 - 43 6740_6744 c.6447_6451delTCTAA c.(6445-6453)aatctaaagfs p.N2149fs CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Frame_Shift_Del_p.N2144fs|CNOT1_uc002ent.3_Frame_Shift_Del_p.N87fs|CNOT1_uc010vik.2_Frame_Shift_Del_p.N1106fs NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA. 2149 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) AACCTTACCTTTAGATTAGGAGTGA 0.400 TP53 7157 broad.mit.edu 37 17 7578555 7578555 + Splice_Site SNP C C T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr17:7578555C>T uc002gim.2 - 5 570 c.376_splice c.e5-1 p.Y126_splice TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.3_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.2_Splice_Site_p.Y87_splice NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 126 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAGGGGAGTACTGTAGGAAGA 0.552 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) MYH4 4622 broad.mit.edu 37 17 10350506 10350506 + Missense_Mutation SNP T T A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr17:10350506T>A uc002gmn.3 - 34 5104 c.4993A>T c.(4993-4995)Atc>Ttc p.I1665F AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 1665 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TGGCCTCTGATGGCATCATCC 0.468 MYH1 4619 broad.mit.edu 37 17 10395868 10395868 + Silent SNP G G T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr17:10395868G>T uc002gmo.3 - 39 5779 c.5685C>A c.(5683-5685)gtC>gtA p.V1895V AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1895 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TGGAGAGGTTGACGTTGGATT 0.473 DNAH9 1770 broad.mit.edu 37 17 11757746 11757749 + Splice_Site DEL GTGA GTGA - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr17:11757746_11757749delGTGA uc002gne.3 + 50 10001 c.9933_splice c.e50+1 p.A3311_splice DNAH9_uc010coo.3_Splice_Site_p.A2605_splice NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 3311 Stalk (By similarity). 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) CAAGATCGCTGTGAGTGACCCCAG 0.544 FAM83G 644815 broad.mit.edu 37 17 18906958 18906958 + Silent SNP G G A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr17:18906958G>A uc002guw.3 - 1 564 c.397C>T c.(397-399)Ctg>Ttg p.L133L SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron NM_001039999 NP_001035088 A6ND36 FA83G_HUMAN Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA. 133 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 GGCCAGCCCAGGTCCAGCTGC 0.701 ACACA 31 broad.mit.edu 37 17 35564699 35564701 + In_Frame_Del DEL GGA GGA - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr17:35564699_35564701delGGA uc002hnm.3 - 30 3801_3803 c.3610_3612delTCC c.(3610-3612)tccdel p.S1204del ACACA_uc002hnk.3_In_Frame_Del_p.S1126del|ACACA_uc002hnl.3_In_Frame_Del_p.S1146del|ACACA_uc002hnn.3_In_Frame_Del_p.S1204del|ACACA_uc002hno.3_In_Frame_Del_p.S1241del|ACACA_uc010cuy.3_5'Flank NM_198836 NP_942135 Q13085 ACACA_HUMAN Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA. 1204 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GGTTGAGGTTGGAGGAGAAGGAC 0.473 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr17:39254054A>T uc010wfo.2 - 0 322 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960 NP_114166 Q9BYQ9 KRA48_HUMAN Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA. 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(8) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677 SGSH 6448 broad.mit.edu 37 17 78185892 78185892 + Silent SNP G G A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr17:78185892G>A uc002jxz.4 - 6 1014 c.927C>T c.(925-927)agC>agT p.S309S SGSH_uc002jya.4_Silent_p.S106S|SGSH_uc002jxy.2_3'UTR|SGSH_uc010wue.1_3'UTR NM_000199 NP_000190 P51688 SPHM_HUMAN Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), mRNA. 309 proteoglycan metabolic process lysosome metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CGTAGGCCTCGCTGACTTGGC 0.617 SETBP1 26040 broad.mit.edu 37 18 42533090 42533090 + Missense_Mutation SNP G G C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr18:42533090G>C uc010dni.3 + 3 4081 c.3785G>C c.(3784-3786)aGa>aCa p.R1262T NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA. 1262 nucleus DNA binding p.R1208K(1)|p.A1262A(1) NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) TGCACGAAAAGATACTCTGGC 0.537 Schinzel-Giedion syndrome MYO5B 4645 broad.mit.edu 37 18 47479673 47479674 + Frame_Shift_Del DEL TC TC - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr18:47479673_47479674delTC uc002leb.2 - 13 1996_1997 c.1708_1709delGA c.(1708-1710)gacfs p.D570fs MYO5B_uc021ukb.1_Frame_Shift_Del_p.D569fs NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 570 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) ATACACCGTGTCTCTGTTTTTC 0.520 ZNF407 55628 broad.mit.edu 37 18 72343319 72343319 + Missense_Mutation SNP C C A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr18:72343319C>A uc002llw.2 + 0 397 c.344C>A c.(343-345)aCc>aAc p.T115N ZNF407_uc010xfc.2_Missense_Mutation_p.T115N|ZNF407_uc010dqu.2_Missense_Mutation_p.T115N|ZNF407_uc002llu.2_Missense_Mutation_p.T114N NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA. 115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GGGAAGGAGACCTTTCTGAGT 0.443 ELANE 1991 broad.mit.edu 37 19 855979 855979 + Missense_Mutation SNP G G A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr19:855979G>A uc002lqb.3 + 4 657 c.619G>A c.(619-621)Gtc>Atc p.V207I NM_001972 NP_001963 P08246 ELNE_HUMAN Homo sapiens elastase, neutrophil expressed (ELANE), mRNA. 207 Peptidase S1. cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV cell surface|extracellular region|stored secretory granule bacterial cell surface binding|cytokine binding|heparin binding breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1) 13 Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019) CAGCCCCTTGGTCTGCAACGG 0.657 TMIGD2 126259 broad.mit.edu 37 19 4298041 4298042 + Frame_Shift_Del DEL TA TA - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr19:4298041_4298042delTA uc002lzx.2 - 1 393_394 c.347_348delTA c.(346-348)gtafs p.V116fs TMIGD2_uc021umz.1_Intron|TMIGD2_uc021una.1_Intron|TMIGD2_uc010dtv.2_Frame_Shift_Del_p.V116fs NM_144615 NP_653216 Q96BF3 TMIG2_HUMAN Homo sapiens transmembrane and immunoglobulin domain containing 2 (TMIGD2), transcript variant 1, mRNA. 116 Ig-like. integral to membrane p.A115A(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2) 19 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGAATCTCTACGGCCGCCCA 0.653 TRIP10 9322 broad.mit.edu 37 19 6751206 6751206 + Missense_Mutation SNP G G A rs139028261 TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr19:6751206G>A uc002mfs.3 + 14 1856 c.1790G>A c.(1789-1791)cGa>cAa p.R597Q TRIP10_uc010dux.2_Missense_Mutation_p.E551K|TRIP10_uc002mfr.3_Missense_Mutation_p.R541Q|TRIP10_uc010duy.3_Non-coding_Transcript NM_004240 NP_004231 Q15642 CIP4_HUMAN Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA. 597 Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Interaction with PDE6G (By similarity).|Interaction with WAS.|Required for interaction with FASLG and localization to lysosomes.|Required for podosome formation.|SH3. actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup GTPase activator activity|identical protein binding|lipid binding NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 16 TCCTACCTCCGAGTCACGCTC 0.612 C19orf43 79002 broad.mit.edu 37 19 12841881 12841881 + Missense_Mutation SNP A A G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr19:12841881A>G uc002muu.3 - 3 482 c.424_splice c.e3-1 p.V142_splice NM_024038 NP_076943 Q9BQ61 CS043_HUMAN Homo sapiens chromosome 19 open reading frame 43 (C19orf43), mRNA. 142 endometrium(2)|large_intestine(2) 4 ACTTGTTAATACCTGTGGAAA 0.547 CYP4F12 66002 broad.mit.edu 37 19 15807863 15807863 + Missense_Mutation SNP C C T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr19:15807863C>T uc002nbl.3 + 12 1662 c.1543C>T c.(1543-1545)Cgg>Tgg p.R515W NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) GCTTTGGCTGCGGGTGGAGCC 0.567 USP29 57663 broad.mit.edu 37 19 57641232 57641232 + Missense_Mutation SNP A A G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr19:57641232A>G uc002qny.3 + 3 1545 c.1189A>G c.(1189-1191)Act>Gct p.T397A USP29_uc021vci.1_Missense_Mutation_p.T397A NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA. 397 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CACTTTGAATACTGGGAAAGA 0.383 KIDINS220 57498 broad.mit.edu 37 2 8872006 8872006 + Missense_Mutation SNP T T C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr2:8872006T>C uc002qzc.2 - 29 4342 c.4160A>G c.(4159-4161)tAt>tGt p.Y1387C KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.Y1288C|KIDINS220_uc002qzb.2_Missense_Mutation_p.Y241C NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA. 1387 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GTATTCTCTATAGGCATCTCT 0.463 DPYSL5 56896 broad.mit.edu 37 2 27165614 27165616 + In_Frame_Del DEL AGA AGA - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr2:27165614_27165616delAGA uc002rhu.4 + 10 1594_1596 c.1436_1438delAGA c.(1435-1440)gagaag>gag p.K480del DPYSL5_uc002rhv.4_In_Frame_Del_p.K480del|DPYSL5_uc021vev.1_In_Frame_Del_p.K480del NM_020134 NP_064519 Q9BPU6 DPYL5_HUMAN Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA. 480 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCCAGAGAGAGAAGGTGAGGTG 0.557 OREG0014510 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TMEM214 54867 broad.mit.edu 37 2 27258019 27258019 + Missense_Mutation SNP T T A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr2:27258019T>A uc002ria.4 + 2 478 c.368T>A c.(367-369)cTg>cAg p.L123Q TMEM214_uc002rib.4_Missense_Mutation_p.L123Q NM_017727 NP_060197 Q6NUQ4 TM214_HUMAN Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA. 123 integral to membrane protein binding kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 GTGGCAGACCTGCAGAAGGAA 0.537 FAM176A 84141 broad.mit.edu 37 2 75745200 75745200 + Missense_Mutation SNP C C A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr2:75745200C>A uc002sni.2 - 2 545 c.67G>T c.(67-69)Gcc>Tcc p.A23S FAM176A_uc002snj.1_Missense_Mutation_p.A10S|FAM176A_uc002snk.1_Missense_Mutation_p.A23S NM_001135032 NP_115557 Q9H8M9 F176A_HUMAN Homo sapiens family with sequence similarity 176, member A (FAM176A), transcript variant 1, mRNA. 23 Necessary for the localization and biological activity. apoptosis|autophagy endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane endometrium(1)|large_intestine(4)|lung(1)|skin(2) 8 AAGGAATAGGCCGCTAGGATG 0.612 SEPT10 151011 broad.mit.edu 37 2 110350668 110350668 + Missense_Mutation SNP G G C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr2:110350668G>C uc002tey.3 - 1 438 c.59C>G c.(58-60)aCa>aGa p.T20R SEPT10_uc010ywu.1_Missense_Mutation_p.T20R|SEPT10_uc002tew.3_Missense_Mutation_p.T20R|SEPT10_uc002tex.3_Intron|SEPT10_uc010ywv.2_5'UTR NM_144710 NP_653311 Q9P0V9 SEP10_HUMAN Homo sapiens septin 10 (SEPT10), transcript variant 1, mRNA. 20 cell cycle|cell division septin complex GTP binding p.T19T(1) breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1) 18 CATACAAGTTGTTTTCGTTGC 0.323 NEB 4703 broad.mit.edu 37 2 152518698 152518698 + Missense_Mutation SNP T T C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr2:152518698T>C uc021vrb.1 - 43 5950 c.5921A>G c.(5920-5922)gAc>gGc p.D1974G NEB_uc002txu.3_Missense_Mutation_p.D1974G|NEB_uc021vrc.1_Missense_Mutation_p.D1974G|NEB_uc010fnx.3_Missense_Mutation_p.D1974G|NEB_uc021vrd.1_Missense_Mutation_p.D1974G NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 1974 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GTTCATCGAGTCCATGAGTGT 0.413 CERS6 253782 broad.mit.edu 37 2 169404150 169404150 + Missense_Mutation SNP A A G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr2:169404150A>G uc002uec.1 + 1 339 c.215A>G c.(214-216)aAt>aGt p.N72S CERS6_uc002ueb.1_Missense_Mutation_p.N72S NM_203463 NP_982288 Q6ZMG9 CERS6_HUMAN Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA. 72 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity ATTCAGGCCAATGGACCACAA 0.413 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr2:209113112C>T uc002vcs.3 - 3 641 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H NM_005896 NP_005887 O75874 IDHC_HUMAN Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA. 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393 Mis gliobastoma ZNF142 7701 broad.mit.edu 37 2 219521105 219521105 + Silent SNP C C T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr2:219521105C>T uc002vin.3 - 3 484 c.48G>A c.(46-48)gaG>gaA p.E16E ZNF142_uc002vil.3_5'UTR|ZNF142_uc010fvt.3_5'UTR|ZNF142_uc002vim.3_5'UTR NM_001105537 NP_001099007 P52746 ZN142_HUMAN Homo sapiens zinc finger protein 142 (ZNF142), mRNA. 16 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GTCCATCCATCTCCCCGGTGC 0.582 MYH7B 57644 broad.mit.edu 37 20 33572918 33572918 + Missense_Mutation SNP C C T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr20:33572918C>T uc002xbi.2 + 12 1234 c.917C>T c.(916-918)gCg>gTg p.A306V NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA. 264 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) CTGGCATCCGCGGATATTGAC 0.642 PTPRT 11122 broad.mit.edu 37 20 40911144 40911144 + Missense_Mutation SNP G G A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr20:40911144G>A uc002xkg.3 - 12 2345 c.2161C>T c.(2161-2163)Cgt>Tgt p.R721C PTPRT_uc010ggj.3_Missense_Mutation_p.R721C NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 721 Fibronectin type-III 4. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.R721H(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GTAGCCAGACGAACACAGTTG 0.348 KCNE1 3753 broad.mit.edu 37 21 35821746 35821746 + Missense_Mutation SNP G G T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr21:35821746G>T uc021wit.1 - 0 187 c.187C>A c.(187-189)Ctg>Atg p.L63M KCNE1_uc010gmp.3_Missense_Mutation_p.L63M|KCNE1_uc002ytz.3_Missense_Mutation_p.L63M|KCNE1_uc010gmq.3_Missense_Mutation_p.L63M|KCNE1_uc010gmr.3_Missense_Mutation_p.L63M|KCNE1_uc010gms.3_Missense_Mutation_p.L63M|KCNE1_uc002yua.3_Non-coding_Transcript NM_001127670 NP_001121142 P15382 KCNE1_HUMAN Homo sapiens potassium voltage-gated channel, Isk-related family, member 1 (KCNE1), transcript variant 1, mRNA. 63 blood circulation|membrane depolarization|muscle contraction|sensory perception of sound lysosome delayed rectifier potassium channel activity|potassium channel regulator activity large_intestine(4)|lung(1)|ovary(2) 7 Indapamide(DB00808) ATGTAGCTCAGCATGATGCCC 0.592 KRTAP10-2 386679 broad.mit.edu 37 21 45971183 45971183 + Silent SNP C C G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr21:45971183C>G uc002zfi.1 - 0 206 c.159G>C c.(157-159)gtG>gtC p.V53V TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198693 NP_941966 P60368 KR102_HUMAN Homo sapiens keratin associated protein 10-2 (KRTAP10-2), mRNA. 53 22 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1)|lung(4)|skin(1) 6 AGGGGCTGGACACACAGCTCA 0.697 OSBP2 23762 broad.mit.edu 37 22 31137202 31137202 + Silent SNP G G A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr22:31137202G>A uc003aiy.1 + 1 803 c.699G>A c.(697-699)gcG>gcA p.A233A OSBP2_uc011ala.1_Silent_p.A68A|OSBP2_uc010gwc.1_Silent_p.A60A|OSBP2_uc003aix.1_Silent_p.A233A|OSBP2_uc011alb.1_Silent_p.A233A|OSBP2_uc003aiz.1_Silent_p.A233A NM_030758 NP_110385 Q969R2 OSBP2_HUMAN Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA. 233 PH. lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 TGTCCACCGCGCACATTGACA 0.557 TMPRSS6 164656 broad.mit.edu 37 22 37492125 37492125 + Frame_Shift_Del DEL C C - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr22:37492125delC uc003aqt.1 - 4 472 c.410delG c.(409-411)ggafs p.G137fs TMPRSS6_uc003aqs.1_Frame_Shift_Del_p.G146fs|TMPRSS6_uc003aqu.3_Frame_Shift_Del_p.G137fs NM_153609 NP_705837 Q8IU80 TMPS6_HUMAN Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA. 146 angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 GGTGAGGGGTCCCTCCCTAAG 0.622 CYTH4 27128 broad.mit.edu 37 22 37707507 37707507 + Missense_Mutation SNP C C T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr22:37707507C>T uc003arf.3 + 10 1012 c.896C>T c.(895-897)cCa>cTa p.P299L CYTH4_uc011amw.2_Missense_Mutation_p.P242L NM_013385 NP_037517 Q9UIA0 CYH4_HUMAN Homo sapiens cytohesin 4 (CYTH4), mRNA. 299 PH. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1) 15 GACAAGGAGCCACGGGGAATT 0.582 DDX17 10521 broad.mit.edu 37 22 38890068 38890069 + Frame_Shift_Del DEL TT TT - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr22:38890068_38890069delTT uc003avy.4 - 8 1385_1386 c.1282_1283delAA c.(1282-1284)aagfs p.K428fs DDX17_uc003avx.4_Frame_Shift_Del_p.K428fs|DDX17_uc011anu.2_Frame_Shift_Del_p.K341fs NM_001098504 NP_001091974 Q92841 DDX17_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA. 349 Helicase C-terminal. RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) ACAGCGTCTCTTTGTCTCCACA 0.386 MCHR1 2847 broad.mit.edu 37 22 41077826 41077826 + Missense_Mutation SNP G G A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr22:41077826G>A uc003ayz.3 + 1 1431 c.1163G>A c.(1162-1164)cGc>cAc p.R388H MCHR1_uc003aza.3_Missense_Mutation_p.R277H|HV452684_uc003azb.1_Non-coding_Transcript NM_005297 NP_005288 Q99705 MCHR1_HUMAN Homo sapiens melanin-concentrating hormone receptor 1 (MCHR1), mRNA. 388 elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1) 20 GAGACGTTCCGCAAACGCTTG 0.572 NUP210 23225 broad.mit.edu 37 3 13432743 13432743 + Silent SNP C C T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr3:13432743C>T uc003bxv.1 - 3 584 c.501G>A c.(499-501)gcG>gcA p.A167A NM_024923 NP_079199 Q8TEM1 PO210_HUMAN Homo sapiens nucleoporin 210kDa (NUP210), mRNA. 167 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) AGAACCTGTCCGCCTCGGAGT 0.582 MRPS25 64432 broad.mit.edu 37 3 15094113 15094115 + In_Frame_Del DEL CTC CTC - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr3:15094113_15094115delCTC uc003bzl.3 - 3 470_472 c.355_357delGAG c.(355-357)gagdel p.E119del MRPS25_uc011avl.2_In_Frame_Del_p.89_90RR>R|MRPS25_uc011avm.1_Intron NM_022497 NP_071942 P82663 RT25_HUMAN Homo sapiens mitochondrial ribosomal protein S25 (MRPS25), nuclear gene encoding mitochondrial protein, mRNA. 119 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome large_intestine(1)|lung(1) 2 GCTGCTTTTTCTCCTCCTCCTCT 0.586 NICN1 84276 broad.mit.edu 37 3 49463788 49463788 + Missense_Mutation SNP T T G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr3:49463788T>G uc003cwz.1 - 1 291 c.206A>C c.(205-207)cAc>cCc p.H69P NICN1_uc021wxy.1_5'Flank|NICN1_uc011bcr.2_Missense_Mutation_p.H69P NM_032316 NP_115692 Q9BSH3 NICN1_HUMAN Homo sapiens nicolin 1 (NICN1), mRNA. 69 microtubule|nucleus kidney(1)|large_intestine(3)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GGCAGGTGTGTGTGCTGAGGT 0.498 TMEM115 11070 broad.mit.edu 37 3 50396188 50396190 + In_Frame_Del DEL AGA AGA - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr3:50396188_50396190delAGA uc003dan.1 - 0 750_752 c.305_307delTCT c.(304-309)ttctca>tca p.F102del Mir_324_uc021wyp.1_5'Flank NM_007024 NP_008955 Q12893 TM115_HUMAN Homo sapiens transmembrane protein 115 (TMEM115), mRNA. 102 negative regulation of cell proliferation Golgi apparatus|integral to membrane|nucleus breast(2)|endometrium(1)|lung(1)|prostate(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TTCACCACTGAGAAGAAGATGAG 0.601 C3orf17 25871 broad.mit.edu 37 3 112724550 112724550 + Missense_Mutation SNP T T C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr3:112724550T>C uc003dzr.3 - 8 1598 c.1537A>G c.(1537-1539)Atg>Gtg p.M513V C3orf17_uc011bia.2_Missense_Mutation_p.M310V|C3orf17_uc003dzu.3_Missense_Mutation_p.M442V|C3orf17_uc011bib.2_Missense_Mutation_p.M402V|C3orf17_uc011bic.2_Missense_Mutation_p.M346V|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_Missense_Mutation_p.M138V|C3orf17_uc003dzt.3_Missense_Mutation_p.M416V|C3orf17_uc003dzs.3_Missense_Mutation_p.M377V|C3orf17_uc010hqg.3_Missense_Mutation_p.M338V NM_015412 NP_056227 Q6NW34 CC017_HUMAN Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA. 513 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1) 13 ATGACAGGCATTGAAACTCCA 0.388 CCDC37 348807 broad.mit.edu 37 3 126138549 126138549 + Silent SNP G G A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr3:126138549G>A uc010hsg.1 + 7 863 c.804G>A c.(802-804)tcG>tcA p.S268S CCDC37_uc003eiu.1_Silent_p.S267S NM_182628 NP_872434 Q494V2 CCD37_HUMAN Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA. 267 NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) ACAAGCTGTCGCCCAAGGAGT 0.488 CP 1356 broad.mit.edu 37 3 148903188 148903188 + Missense_Mutation SNP C C T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr3:148903188C>T uc003ewy.4 - 11 2376 c.2123G>A c.(2122-2124)gGc>gAc p.G708D CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.G489D|CP_uc003ewz.3_Missense_Mutation_p.G708D NM_000096 NP_000087 P00450 CERU_HUMAN Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA. 708 F5/8 type A 2.|Plastocyanin-like 4. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity p.G708S(1) breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) TTGCTTCATGCCGCCTGTGTA 0.468 VEPH1 79674 broad.mit.edu 37 3 157213090 157213090 + Missense_Mutation SNP C C A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr3:157213090C>A uc003fbj.2 - 1 468 c.49G>T c.(49-51)Gct>Tct p.A17S VEPH1_uc003fbk.2_Missense_Mutation_p.A17S|VEPH1_uc010hvu.2_Missense_Mutation_p.A17S|VEPH1_uc021xgk.1_Missense_Mutation_p.A17S|VEPH1_uc003fbn.3_Missense_Mutation_p.A17S|VEPH1_uc003fbm.3_Missense_Mutation_p.A17S NM_024621 NP_078897 Q14D04 MELT_HUMAN Homo sapiens ventricular zone expressed PH domain homolog 1 (zebrafish) (VEPH1), transcript variant 1, mRNA. 17 plasma membrane p.A17G(1) autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) AGGTCCCCAGCTCGTGAAAGA 0.413 TP63 8626 broad.mit.edu 37 3 189607256 189607256 + Silent SNP A A G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr3:189607256A>G uc003fry.2 + 11 1724 c.1635A>G c.(1633-1635)acA>acG p.T545T TP63_uc003frz.2_Silent_p.T545T|TP63_uc010hzc.1_Intron|TP63_uc003fsc.2_Silent_p.T451T|TP63_uc003fsd.2_Silent_p.T451T|TP63_uc021xir.1_Intron|TP63_uc010hzd.1_Silent_p.T366T NM_003722 NP_003713 Q9H3D4 P63_HUMAN Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA. 545 SAM. anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CGTATCCCACAGATTGCAGCA 0.597 HNSCC(45;0.13) LGI2 55203 broad.mit.edu 37 4 25019723 25019723 + Missense_Mutation SNP C C A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr4:25019723C>A uc003grf.2 - 5 642 c.543G>T c.(541-543)tgG>tgT p.W181C NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA. 181 LRRCT. extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) TCATCTTCAACCACAGGTATA 0.373 UGT2A3 79799 broad.mit.edu 37 4 69798344 69798344 + Splice_Site SNP A A G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr4:69798344A>G uc003hef.2 - 3 1027 c.996_splice c.e3+1 p.K332_splice UGT2A3_uc010ihp.1_Splice_Site NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA. 332 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GGTTTTACTGACCTTCTGTGG 0.398 USP53 54532 broad.mit.edu 37 4 120213685 120213686 + Frame_Shift_Del DEL CT CT - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr4:120213685_120213686delCT uc003ics.4 + 17 3607_3608 c.2541_2542delCT c.(2539-2544)aactctfs p.N847fs USP53_uc003icr.4_Frame_Shift_Del_p.N847fs|USP53_uc003icu.4_Frame_Shift_Del_p.N470fs NM_019050 NP_061923 Q70EK8 UBP53_HUMAN Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA. 847 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 27 ACGTTGATAACTCTGCTTCTGG 0.391 PCDH18 54510 broad.mit.edu 37 4 138442804 138442804 + Missense_Mutation SNP G G T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr4:138442804G>T uc003ihe.4 - 3 3174 c.2787C>A c.(2785-2787)gaC>gaA p.D929E PCDH18_uc003ihf.4_Missense_Mutation_p.D921E|PCDH18_uc011cgz.2_Missense_Mutation_p.D140E|PCDH18_uc003ihg.4_Missense_Mutation_p.D708E|PCDH18_uc011cha.2_Missense_Mutation_p.D109E NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 929 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D929V(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TCCAGCACTGGTCAGAGTGTC 0.498 SPOCK3 50859 broad.mit.edu 37 4 167921580 167921580 + Missense_Mutation SNP C C T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr4:167921580C>T uc011cjq.1 - 2 363 c.306G>A c.(304-306)atG>atA p.M102I SPOCK3_uc021xuf.1_Missense_Mutation_p.M93I|SPOCK3_uc011cjr.1_Intron|SPOCK3_uc003iri.1_Missense_Mutation_p.M93I|SPOCK3_uc011cjs.1_Missense_Mutation_p.M42I|SPOCK3_uc003irj.1_Missense_Mutation_p.M90I|SPOCK3_uc011cjt.1_Missense_Mutation_p.M1I|SPOCK3_uc011cjp.2_Missense_Mutation_p.M90I|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.4_Missense_Mutation_p.M90I|SPOCK3_uc011cjw.1_Non-coding_Transcript NM_001204353 NP_001191282 Q9BQ16 TICN3_HUMAN Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA. 93 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) GACTACATTTCATCTTTAAGC 0.348 MFAP3L 9848 broad.mit.edu 37 4 170926952 170926952 + Missense_Mutation SNP G G A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr4:170926952G>A uc003isp.4 - 1 255 c.77C>T c.(76-78)gCc>gTc p.A26V MFAP3L_uc003isn.4_5'Flank NM_021647 NP_001009554 O75121 MFA3L_HUMAN Homo sapiens microfibrillar-associated protein 3-like (MFAP3L), transcript variant 1, mRNA. 26 integral to membrane|plasma membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) CTTAGCGGTGGCTAGAGTGGA 0.458 TLR3 7098 broad.mit.edu 37 4 187003773 187003773 + Silent SNP G G A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr4:187003773G>A uc003iyq.3 + 3 1034 c.933G>A c.(931-933)caG>caA p.Q311Q TLR3_uc011ckz.2_Silent_p.Q34Q|TLR3_uc003iyr.3_Silent_p.Q34Q NM_003265 NP_003256 O15455 TLR3_HUMAN Homo sapiens toll-like receptor 3 (TLR3), mRNA. 311 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) ATAATATACAGCATTTGTTTT 0.383 SPEF2 79925 broad.mit.edu 37 5 35771803 35771804 + Frame_Shift_Ins INS - - A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr5:35771803_35771804insA uc003jjo.3 + 26 4005_4006 c.3894_3895insA c.(3892-3897)aataaafs p.N1298fs SPEF2_uc003jjp.1_Frame_Shift_Ins_p.N784fs|SPEF2_uc003jjr.3_5'Flank NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 1298 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGGGTGCAAATAAAAAAGTCAA 0.426 PIK3R1 5295 broad.mit.edu 37 5 67589619 67589621 + In_Frame_Del DEL GAG GAG - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr5:67589619_67589621delGAG uc003jva.3 + 10 1962_1964 c.1382_1384delGAG c.(1381-1386)cgagaa>caa p.461_462RE>Q PIK3R1_uc003jvc.3_In_Frame_Del_p.161_162RE>Q|PIK3R1_uc003jvd.3_In_Frame_Del_p.191_192RE>Q|PIK3R1_uc003jve.3_In_Frame_Del_p.140_141RE>Q|PIK3R1_uc021xzn.1_In_Frame_Del_p.98_99RE>Q|PIK3R1_uc011crb.2_In_Frame_Del_p.131_132RE>Q NM_181523 NP_852664 P27986 P85A_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA. 461 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.F456_R461>S(2)|p.F456_R461del(2)|p.E462_R465delEYDR(2)|p.Q457_R461del(2)|p.D434_Q475del(2)|p.T454_D464del(2)|p.E462*(2)|p.E162*(1)|p.E192*(1)|p.K459_S460>N(1)|p.0?(1)|p.?(1)|p.S460fs*5(1)|p.R461*(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) GAAAAAAGTCGAGAATATGATAG 0.281 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) HOMER1 9456 broad.mit.edu 37 5 78752779 78752781 + In_Frame_Del DEL TTC TTC - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr5:78752779_78752781delTTC uc003kfy.3 - 1 1169_1171 c.66_68delGAA c.(64-69)aagaac>aac p.K22del HOMER1_uc010jab.3_In_Frame_Del_p.K22del|HOMER1_uc010jac.3_In_Frame_Del_p.K22del|HOMER1_uc010jad.3_Intron NM_004272 NP_004263 Q86YM7 HOME1_HUMAN Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA. 22 WH1. activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1) 14 Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36) GGGTACCCAGTTCTTCTTTGTGT 0.433 FAT2 2196 broad.mit.edu 37 5 150934173 150934173 + Missense_Mutation SNP A A G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr5:150934173A>G uc003lue.4 - 3 3708 c.3695T>C c.(3694-3696)aTc>aCc p.I1232T NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 1232 Cadherin 10. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GACGTCCAAGATGCCTACCAC 0.552 TIMD4 91937 broad.mit.edu 37 5 156381617 156381617 + Missense_Mutation SNP C C T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr5:156381617C>T uc003lwh.2 - 1 266 c.209G>A c.(208-210)cGc>cAc p.R70H TIMD4_uc010jii.2_Missense_Mutation_p.R70H NM_138379 NP_612388 Q96H15 TIMD4_HUMAN Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA. 70 Ig-like V-type. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCCATCAGTGCGGATGAGCGC 0.522 FGFR4 2264 broad.mit.edu 37 5 176520301 176520301 + Missense_Mutation SNP A A C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr5:176520301A>C uc003mfl.3 + 8 1387 c.1220A>C c.(1219-1221)cAg>cCg p.Q407P FGFR4_uc003mfm.3_Missense_Mutation_p.Q407P|FGFR4_uc011dfu.2_Intron|FGFR4_uc011dfw.1_3'UTR|FGFR4_uc003mfo.3_Intron NM_002011 NP_998812 P22455 FGFR4_HUMAN Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA. 407 insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) 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) Palifermin(DB00039) GCCACTGTGCAGAAGCTCTCC 0.692 TSP Lung(9;0.080) KIAA0319 9856 broad.mit.edu 37 6 24563608 24563608 + Missense_Mutation SNP A A G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr6:24563608A>G uc011djo.2 - 15 3070 c.2570T>C c.(2569-2571)aTt>aCt p.I857T KIAA0319_uc011djp.2_Missense_Mutation_p.I812T|KIAA0319_uc003neh.1_Missense_Mutation_p.I857T|KIAA0319_uc011djq.1_Missense_Mutation_p.I848T|KIAA0319_uc011djr.1_Missense_Mutation_p.I857T|KIAA0319_uc010jpt.1_Missense_Mutation_p.I268T NM_001168375 NP_001161848 Q5VV43 K0319_HUMAN Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA. 857 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 GTGGGCCCGAATCTTCTGGAC 0.567 HIST1H3F 8968 broad.mit.edu 37 6 26250643 26250643 + Missense_Mutation SNP C C T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr6:26250643C>T uc003nhg.1 - 0 193 c.191G>A c.(190-192)cGc>cAc p.R64H HIST1H2BH_uc003nhh.3_5'Flank NM_021018 NP_066298 P68431 H31_HUMAN Homo sapiens histone cluster 1, H3f (HIST1H3F), mRNA. 64 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding lung(6)|urinary_tract(1) 7 TGGTAGCTTGCGAATCAGTAG 0.612 OREG0017241 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TULP1 7287 broad.mit.edu 37 6 35477607 35477607 + Missense_Mutation SNP T T C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr6:35477607T>C uc003okv.4 - 5 610 c.598A>G c.(598-600)Aaa>Gaa p.K200E TULP1_uc003okw.4_Missense_Mutation_p.K147E|TULP1_uc021yyx.1_Missense_Mutation_p.K200E|TULP1_uc021yyy.1_Missense_Mutation_p.K200E NM_003322 NP_003313 O00294 TULP1_HUMAN Homo sapiens tubby like protein 1 (TULP1), mRNA. 200 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 GGCTCACCTTTCTTCTTGGTC 0.592 CAPN11 11131 broad.mit.edu 37 6 44140965 44140965 + Missense_Mutation SNP T T A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr6:44140965T>A uc003owt.1 + 6 711 c.673T>A c.(673-675)Tcc>Acc p.S225T NM_007058 NP_008989 Q9UMQ6 CAN11_HUMAN Homo sapiens calpain 11 (CAPN11), mRNA. 225 Calpain catalytic. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 36 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GCTGAGTGGGTCCTATGAAGC 0.617 OREG0017466 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RAB23 51715 broad.mit.edu 37 6 57055306 57055309 + Frame_Shift_Del DEL TTTG TTTG - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr6:57055306_57055309delTTTG uc003pds.3 - 6 870_873 c.664_667delCAAA c.(664-669)caaaggfs p.Q222fs RAB23_uc003pdt.3_Frame_Shift_Del_p.Q222fs|RAB23_uc010kac.3_Frame_Shift_Del_p.Q222fs|RAB23_uc010kad.3_Non-coding_Transcript NM_183227 NP_899050 Q9ULC3 RAB23_HUMAN Homo sapiens RAB23, member RAS oncogene family (RAB23), transcript variant 2, mRNA. 222 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 8 Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TTCTTGGTCCTTTGTTTGTTGGGT 0.387 SPACA1 81833 broad.mit.edu 37 6 88769216 88769216 + Missense_Mutation SNP A A C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr6:88769216A>C uc003pmn.3 + 4 637 c.520A>C c.(520-522)Aag>Cag p.K174Q NM_030960 NP_112222 Q9HBV2 SACA1_HUMAN Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA. 174 integral to membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) AGAAGTACGCAAGGAAAGTCA 0.343 ASCC3 10973 broad.mit.edu 37 6 101110219 101110219 + Splice_Site SNP A A T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr6:101110219A>T uc003pqk.3 - 15 2807 c.2478_splice c.e15+1 p.K826_splice ASCC3_uc011eai.1_Splice_Site_p.K728_splice NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA. 826 Helicase C-terminal 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) GTAAGCTCTTACCTTAATAAT 0.398 CCDC129 223075 broad.mit.edu 37 7 31617703 31617703 + Silent SNP G G A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr7:31617703G>A uc011kae.2 + 7 915 c.903G>A c.(901-903)gaG>gaA p.E301E CCDC129_uc011kad.1_Silent_p.E285E|CCDC129_uc003tcj.1_Silent_p.E275E|CCDC129_uc003tci.1_Intron|CCDC129_uc003tck.1_Silent_p.E183E NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA. 275 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 AGGTATCAGAGTCCTTCAAGG 0.453 Unknown 168474 broad.mit.edu 37 7 64313091 64313091 + Missense_Mutation SNP T T C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr7:64313091T>C ZNF138 (19066 upstream) : AK097702 (17459 downstream) CTTAGGAATATCCAGCCACTG 0.493 TRIM73 378108 broad.mit.edu 37 7 75028495 75028495 + Missense_Mutation SNP G G A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr7:75028495G>A uc010ldc.3 + 1 478 c.278G>A c.(277-279)cGg>cAg p.R93Q TRIM73_uc003udc.1_Missense_Mutation_p.R93Q|TRIM73_uc010ldd.2_Missense_Mutation_p.R93Q NM_198924 NP_944606 Q86UV6 TRI74_HUMAN Homo sapiens tripartite motif containing 73 (TRIM73), mRNA. 93 intracellular zinc ion binding endometrium(1)|large_intestine(1)|lung(1)|pancreas(1) 4 GTGCACCACCGGAACCCGCTC 0.667 SMURF1 57154 broad.mit.edu 37 7 98636097 98636099 + In_Frame_Del DEL GTT GTT - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr7:98636097_98636099delGTT uc003upu.2 - 14 2018_2020 c.1678_1680delAAC c.(1678-1680)aacdel p.N560del SMURF1_uc003upv.2_In_Frame_Del_p.N534del|SMURF1_uc003upt.3_In_Frame_Del_p.N534del NM_020429 NP_065162 Q9HCE7 SMUF1_HUMAN Homo sapiens SMAD specific E3 ubiquitin protein ligase 1 (SMURF1), transcript variant 1, mRNA. 560 HECT. BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1) 25 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) GCCCGAAGGCGTTGTGTTCCACG 0.512 CFTR 1080 broad.mit.edu 37 7 117180363 117180363 + Missense_Mutation SNP C C G rs75053309 TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr7:117180363C>G uc003vjd.3 + 7 1211 c.1079C>G c.(1078-1080)aCa>aGa p.T360R CFTR_uc011knq.2_5'UTR NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 360 ABC transmembrane type-1 1. QT -> KK (in CF). respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) GCTGTACAAACATGGTATGAC 0.388 Cystic Fibrosis SND1 27044 broad.mit.edu 37 7 127724820 127724820 + Missense_Mutation SNP G G T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr7:127724820G>T uc003vmi.3 + 18 2381 c.2155G>T c.(2155-2157)Gcc>Tcc p.A719S SND1_uc010lle.3_Missense_Mutation_p.A372S NM_014390 NP_055205 Q7KZF4 SND1_HUMAN Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA. 719 gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity p.A719S(2) central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 CAATGACATTGCCAGTCACCC 0.562 SSPO 23145 broad.mit.edu 37 7 149477563 149477563 + Missense_Mutation SNP C C A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr7:149477563C>A uc010lpk.3 + 11 1634 c.1634C>A c.(1633-1635)cCc>cAc p.P545H SSPO_uc010lpl.1_Intron NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 545 cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTGTGTAACCCCTGGTGGGTC 0.627 POLR3D 661 broad.mit.edu 37 8 22106020 22106020 + Silent SNP C C T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr8:22106020C>T uc003xbl.3 + 5 596 c.513C>T c.(511-513)aaC>aaT p.N171N POLR3D_uc003xbm.3_Silent_p.N171N|POLR3D_uc011kze.2_Non-coding_Transcript NM_001722 NP_001713 P05423 RPC4_HUMAN Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA. 171 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 13 Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) GCCTGAGGAACGACACTCGAA 0.527 KCTD9 54793 broad.mit.edu 37 8 25287394 25287394 + Silent SNP G G A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr8:25287394G>A uc003xeo.3 - 11 1371 c.1149C>T c.(1147-1149)caC>caT p.H383H DOCK5_uc003xek.3_Intron|KCTD9_uc011lad.2_Non-coding_Transcript NM_017634 NP_060104 Q7L273 KCTD9_HUMAN Homo sapiens potassium channel tetramerisation domain containing 9 (KCTD9), mRNA. 383 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1) 12 all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438) TTTGTGACATGTGTAGTGGTG 0.428 FAM110B 90362 broad.mit.edu 37 8 59058884 59058884 + Missense_Mutation SNP A A T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr8:59058884A>T uc022auu.1 + 0 95 c.95A>T c.(94-96)aAg>aTg p.K32M FAM110B_uc003xtj.1_Missense_Mutation_p.K32M NM_147189 NP_671722 Q8TC76 F110B_HUMAN Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA. 32 microtubule organizing center|mitochondrion|nucleus breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2) 26 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) ATCCTGAACAAGGGGCCAGAC 0.657 NCOA2 10499 broad.mit.edu 37 8 71069277 71069277 + Silent SNP A A G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr8:71069277A>G uc003xyn.1 - 10 1485 c.1323T>C c.(1321-1323)ttT>ttC p.F441F NM_006540 NP_006531 Q15596 NCOA2_HUMAN Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA. 441 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) CAGAACCACCAAACCTGCCCA 0.502 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" SLC7A13 157724 broad.mit.edu 37 8 87235301 87235301 + Frame_Shift_Del DEL G G - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr8:87235301delG uc003ydq.1 - 1 815 c.717delC c.(715-717)cccfs p.P239fs SLC7A13_uc003ydr.1_Frame_Shift_Del_p.P230fs NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA. 239 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 ATATGCATTTGGGAATTGTTG 0.358 NCALD 83988 broad.mit.edu 37 8 102705056 102705056 + Silent SNP T T C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr8:102705056T>C uc003yke.3 - 2 816 c.447A>G c.(445-447)acA>acG p.T149T NCALD_uc003ykf.3_Silent_p.T149T|NCALD_uc003ykg.3_Silent_p.T149T|NCALD_uc003ykh.3_Silent_p.T149T|NCALD_uc003yki.3_Silent_p.T149T|NCALD_uc003ykj.3_Silent_p.T149T|NCALD_uc003ykk.3_Silent_p.T149T|NCALD_uc003ykl.3_Silent_p.T149T NM_032041 NP_114430 P61601 NCALD_HUMAN Homo sapiens neurocalcin delta (NCALD), transcript variant 8, mRNA. 149 EF-hand 4. synaptic transmission|vesicle-mediated transport clathrin coat of trans-Golgi network vesicle|cytosol actin binding|calcium ion binding|clathrin binding|tubulin binding endometrium(1)|large_intestine(2)|lung(4)|prostate(1) 8 all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05) all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699) AGATCTTTTCTGTTCTTTTCT 0.507 PKHD1L1 93035 broad.mit.edu 37 8 110460477 110460477 + Missense_Mutation SNP A A G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr8:110460477A>G uc003yne.3 + 38 5986 c.5882A>G c.(5881-5883)aAt>aGt p.N1961S NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 1961 IPT/TIG 12. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ACCATGGCCAATGATAGTGTG 0.438 HNSCC(38;0.096) FER1L6 654463 broad.mit.edu 37 8 125047566 125047566 + Missense_Mutation SNP G G A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr8:125047566G>A uc003yqw.3 + 18 2541 c.2335G>A c.(2335-2337)Gtg>Atg p.V779M FER1L6-AS1_uc003yqx.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 779 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AAAAGTCGACGTGTACCTGTG 0.493 DGAT1 8694 broad.mit.edu 37 8 145540703 145540703 + Frame_Shift_Del DEL G G - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr8:145540703delG uc003zbv.3 - 14 1498 c.1230delC c.(1228-1230)gccfs p.A410fs NM_012079 NP_036211 O75907 DGAT1_HUMAN Homo sapiens diacylglycerol O-acyltransferase 1 (DGAT1), mRNA. 410 triglyceride biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 9 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) AGAAGGCCGAGGCCAGGAACA 0.637 FXN 2395 broad.mit.edu 37 9 71687595 71687595 + Nonsense_Mutation SNP G G T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr9:71687595G>T uc004aha.2 + 4 770 c.550G>T c.(550-552)Gag>Tag p.E184* FXN_uc011lrr.1_Intron|FXN_uc004agz.2_Missense_Mutation_p.M186I NM_000144 NP_000135 Q16595 FRDA_HUMAN Homo sapiens frataxin (FXN), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 184 cellular iron ion homeostasis|cellular response to hydrogen peroxide|heme biosynthetic process|ion transport|iron incorporation into metallo-sulfur cluster|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity|protein autoprocessing|regulation of ferrochelatase activity|response to iron ion cytosol|mitochondrial matrix 2 iron, 2 sulfur cluster binding|ferric iron binding|ferrous iron binding|ferroxidase activity|iron chaperone activity|protein binding large_intestine(1)|lung(1) 2 GTCCCTCCATGAGCTGCTGGC 0.498 TLE4 7091 broad.mit.edu 37 9 82227600 82227600 + Silent SNP C C T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr9:82227600C>T uc004ald.3 + 4 1110 c.261C>T c.(259-261)atC>atT p.I87I TLE4_uc004alc.3_Silent_p.I94I|TLE4_uc010mpr.3_5'UTR|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Silent_p.I87I|TLE4_uc010mps.3_Silent_p.I87I|TLE4_uc004alf.3_Silent_p.I32I NM_007005 NP_008936 O60756 BCE1_HUMAN Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA. 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 TGAATGCTATCTGTGCACAAG 0.408 TDRD7 23424 broad.mit.edu 37 9 100235814 100235814 + Missense_Mutation SNP G G T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr9:100235814G>T uc004axj.3 + 10 2210 c.1985G>T c.(1984-1986)tGc>tTc p.C662F TDRD7_uc011lux.2_Missense_Mutation_p.C588F|TDRD7_uc010msp.1_5'UTR|TDRD7_uc011luy.2_Missense_Mutation_p.C11F NM_014290 NP_055105 Q8NHU6 TDRD7_HUMAN Homo sapiens tudor domain containing 7 (TDRD7), mRNA. 662 lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) ACTAATATTTGCTCTGATGGG 0.443 HSDL2 84263 broad.mit.edu 37 9 115181194 115181194 + Frame_Shift_Del DEL A A - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr9:115181194delA uc004bga.2 + 5 809 c.554delA c.(553-555)gaafs p.E185fs HSDL2_uc004bgc.2_Frame_Shift_Del_p.E112fs|HSDL2_uc004bgb.2_Frame_Shift_Del_p.N36fs|HSDL2_uc011lww.2_Intron|HSDL2_uc011lwv.2_Frame_Shift_Del_p.E64fs NM_032303 NP_115679 Q6YN16 HSDL2_HUMAN Homo sapiens hydroxysteroid dehydrogenase like 2 (HSDL2), transcript variant 1, mRNA. 185 peroxisome oxidoreductase activity|sterol binding NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 13 ATGGCAGAAGAATTTAAAGGT 0.284 CDK5RAP2 55755 broad.mit.edu 37 9 123313122 123313122 + Missense_Mutation SNP T T A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr9:123313122T>A uc004bkf.3 - 3 435 c.254A>T c.(253-255)gAg>gTg p.E85V CDK5RAP2_uc004bkg.3_Missense_Mutation_p.E85V|CDK5RAP2_uc011lxw.2_5'UTR|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_5'UTR|CDK5RAP2_uc011lya.2_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.E85V NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA. 85 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 CATTCTTTCCTCAAGGAAATA 0.383 TOR1A 1861 broad.mit.edu 37 9 132585088 132585088 + Silent SNP C C T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr9:132585088C>T uc004byl.3 - 1 293 c.216G>A c.(214-216)caG>caA p.Q72Q TOR1A_uc004byn.3_Silent_p.Q72Q NM_000113 NP_000104 O14656 TOR1A_HUMAN Homo sapiens torsin family 1, member A (torsin A) (TOR1A), mRNA. 72 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen|nuclear membrane ATP binding|serine-type endopeptidase activity|unfolded protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Ovarian(14;0.00556) TTGCAAGATGCTGTCCAAAGA 0.483 ATRX 546 broad.mit.edu 37 X 76939674 76939675 + Frame_Shift_Del DEL TT TT - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chrX:76939674_76939675delTT uc004ecp.4 - 8 1305_1306 c.1073_1074delAA c.(1072-1074)aaafs p.K358fs ATRX_uc004ecq.4_Frame_Shift_Del_p.K320fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K143fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K319fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K358fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K303fs NM_000489 NP_000480 P46100 ATRX_HUMAN Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA. 358 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TCTCAATCAGTTTTTTTGCCTT 0.366 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome