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 RERE 473 broad.mit.edu 37 1 8420616 8420616 + Missense_Mutation SNP T T G TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr1:8420616T>G uc001ape.3 - 18 3761 c.2951A>C c.(2950-2952)cAc>cCc p.H984P RERE_uc001apf.3_Missense_Mutation_p.H984P|RERE_uc010nzx.1_Missense_Mutation_p.H716P|RERE_uc001apd.3_Missense_Mutation_p.H430P NM_012102 NP_036234 Q9P2R6 RERE_HUMAN Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA. 984 Pro-rich. H -> N (in Ref. 2; no nucleotide entry). multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) GGGTGGGGGGTGAGCCGACGG 0.701 APITD1-CORT 378708 broad.mit.edu 37 1 10511616 10511616 + Missense_Mutation SNP G G T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr1:10511616G>T uc001arf.3 + 4 875 c.459G>T c.(457-459)agG>agT p.R153S APITD1-CORT_uc021ogd.1_3'UTR|APITD1-CORT_uc021ogf.1_Missense_Mutation_p.R132S|APITD1-CORT_uc021ogg.1_Non-coding_Transcript|APITD1-CORT_uc001ari.3_Missense_Mutation_p.R144S NM_198544 NP_940946 Q8N2Z9 CENPS_HUMAN Homo sapiens APITD1-CORT readthrough (APITD1-CORT), transcript variant 1, mRNA. 0 DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex chromatin binding|DNA binding|protein binding TGCCCTGCAGGAACTTCTTCT 0.567 RSPO1 284654 broad.mit.edu 37 1 38082340 38082340 + Silent SNP G G A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr1:38082340G>A uc001cbl.2 - 4 994 c.102C>T c.(100-102)gcC>gcT p.A34A RSPO1_uc009vvf.2_Silent_p.A7A|RSPO1_uc001cbm.2_Silent_p.A34A|RSPO1_uc009vvg.2_Silent_p.A34A NM_001038633 NP_001229837 Q2MKA7 RSPO1_HUMAN Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA. 34 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGCTCCCCTCGGCACTGACTG 0.557 RPL5 6125 broad.mit.edu 37 1 93301897 93301898 + Frame_Shift_Ins INS - - T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr1:93301897_93301898insT uc001doz.3 + 4 553_554 c.475_476insT c.(475-477)gttfs p.V159fs FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_Frame_Shift_Ins_p.V109fs|RPL5_uc001dpd.3_5'UTR|SNORD21_uc001dpe.2_5'Flank|SNORA66_uc021opt.1_5'Flank NM_000969 NP_000960 P46777 RL5_HUMAN Homo sapiens ribosomal protein L5 (RPL5), mRNA. 159 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) TGGCAATAAAGTTTTTGGTGCC 0.495 HIPK1 204851 broad.mit.edu 37 1 114515777 114515777 + Silent SNP G G T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr1:114515777G>T uc001eem.3 + 15 3437 c.3276G>T c.(3274-3276)tcG>tcT p.S1092S HIPK1_uc001een.3_Silent_p.S1092S|HIPK1_uc001eeo.3_Silent_p.S718S|HIPK1_uc001eep.3_Silent_p.S698S|HIPK1_uc001eeq.3_Silent_p.S384S NM_198268 NP_938010 Q86Z02 HIPK1_HUMAN Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA. 1092 Interaction with TP53. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CGCTACACTCGACAGGGCACC 0.647 CD2 914 broad.mit.edu 37 1 117311264 117311264 + Silent SNP G G A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr1:117311264G>A uc001egu.4 + 4 944 c.915G>A c.(913-915)caG>caA p.Q305Q NM_001767 NP_001758 P06729 CD2_HUMAN Homo sapiens CD2 molecule (CD2), mRNA. 305 Pro-rich. blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) ACCGTGTTCAGCACCAGCCTC 0.622 TCHH 7062 broad.mit.edu 37 1 152084995 152084995 + Missense_Mutation SNP C C T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr1:152084995C>T uc009wne.1 - 2 970 c.698G>A c.(697-699)cGg>cAg p.R233Q TCHH_uc001ezp.2_Missense_Mutation_p.R233Q NM_007113 NP_009044 Q07283 TRHY_HUMAN Homo sapiens trichohyalin (TCHH), mRNA. 233 keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTGTCTTGCCGCTCTCGCCT 0.577 PAPPA2 60676 broad.mit.edu 37 1 176526161 176526161 + Missense_Mutation SNP C C A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr1:176526161C>A uc001gkz.3 + 1 1867 c.703C>A c.(703-705)Cca>Aca p.P235T PAPPA2_uc001gky.1_Missense_Mutation_p.P235T|PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 235 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CAAAAAGAGTCCACCGGAGGA 0.527 OR11L1 391189 broad.mit.edu 37 1 248004304 248004304 + Nonsense_Mutation SNP C C A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr1:248004304C>A uc001idn.1 - 0 895 c.895G>T c.(895-897)Gaa>Taa p.E299* NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA. 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E299V(1) NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CTAACAGCTTCTTTGAAGTCT 0.393 AGAP6 414189 broad.mit.edu 37 10 51768724 51768724 + Missense_Mutation SNP G G C TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr10:51768724G>C uc001jix.4 + 7 1237 c.839G>C c.(838-840)aGa>aCa p.R280T NM_001077665 NP_001071133 C9IYN2 C9IYN2_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA. 280 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.G279C(1) NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2) 29 GGGAGCGGTAGAGCCATCCCC 0.507 PTEN 5728 broad.mit.edu 37 10 89692835 89692835 + Missense_Mutation SNP G G C rs57374291 TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr10:89692835G>C uc001kfb.3 + 4 1351 c.319G>C c.(319-321)Gat>Cat p.D107H PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 107 Phosphatase tensin-type. D -> Y (in BZS and glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.D107Y(6)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.D107N(2)|p.D107A(1)|p.F56fs*2(1)|p.P103fs*3(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CTTTTGTGAAGATCTTGACCA 0.368 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) BNIP3 664 broad.mit.edu 37 10 133787377 133787377 + Nonsense_Mutation SNP A A T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr10:133787377A>T uc001lkv.1 - 1 242 c.117T>A c.(115-117)taT>taA p.Y39* BNIP3_uc010qut.1_Nonsense_Mutation_p.Y39* NM_004052 NP_004043 Q12983 BNIP3_HUMAN Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 3 (BNIP3), nuclear gene encoding mitochondrial protein, mRNA. 39 cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm GTPase binding|protein heterodimerization activity|protein homodimerization activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1) 7 all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203) Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) TGTCTCCATTATAAATAGAAA 0.517 MRGPRX4 117196 broad.mit.edu 37 11 18195500 18195500 + Missense_Mutation SNP G G A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr11:18195500G>A uc001mnv.1 + 0 1117 c.697G>A c.(697-699)Ggc>Agc p.G233S NM_054032 NP_473373 Q96LA9 MRGX4_HUMAN Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA. 233 integral to membrane|plasma membrane G-protein coupled receptor activity p.G233S(2) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 CCTGCCCTTCGGCATTCTGGG 0.527 LRRC4C 57689 broad.mit.edu 37 11 40137192 40137192 + Silent SNP C C T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr11:40137192C>T uc021qgf.1 - 0 651 c.651G>A c.(649-651)ccG>ccA p.P217P LRRC4C_uc001mxc.1_Silent_p.P213P|LRRC4C_uc001mxd.1_Silent_p.P213P|LRRC4C_uc001mxa.1_Silent_p.P217P|LRRC4C_uc001mxb.1_Silent_p.P213P NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA. 217 regulation of axonogenesis integral to membrane protein binding p.P217P(4) NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GTTTTATGAGCGGTGTGAGGT 0.458 LRRC55 219527 broad.mit.edu 37 11 56950084 56950084 + Missense_Mutation SNP T T A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr11:56950084T>A uc001njl.2 + 0 864 c.717T>A c.(715-717)aaT>aaA p.N239K NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA. 209 LRRCT. integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 TCGGTGGCAATCCCTGGGTGT 0.632 DAGLA 747 broad.mit.edu 37 11 61511858 61511858 + Missense_Mutation SNP G G A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr11:61511858G>A uc001nsa.3 + 19 3142 c.3026G>A c.(3025-3027)aGt>aAt p.S1009N NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA. 1009 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) ACGGGCCTCAGTAGCCAGGAA 0.657 STX5 6811 broad.mit.edu 37 11 62593006 62593006 + Missense_Mutation SNP G G C TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr11:62593006G>C uc001nvh.3 - 5 586 c.429C>G c.(427-429)atC>atG p.I143M STX5_uc010rmj.2_Missense_Mutation_p.I143M|STX5_uc010rmi.2_Missense_Mutation_p.I47M NM_003164 NP_003155 Q13190 STX5_HUMAN Homo sapiens syntaxin 5 (STX5), transcript variant 1, mRNA. 143 intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex protein N-terminus binding|SNAP receptor activity breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 18 TGAGGCTATTGATGTCCTGGT 0.507 NUMA1 4926 broad.mit.edu 37 11 71717271 71717271 + Silent SNP C C T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr11:71717271C>T uc001orl.1 - 21 5674 c.5502G>A c.(5500-5502)tcG>tcA p.S1834S NUMA1_uc001orj.2_Silent_p.S16S|NUMA1_uc009ysw.1_Silent_p.S1401S|NUMA1_uc001ork.1_Silent_p.S698S|NUMA1_uc001orm.1_Silent_p.S1820S NM_006185 NP_006176 Q14980 NUMA1_HUMAN Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA. 1834 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 TGCTGTAGAACGATGAGTTGG 0.552 T RARA APL FOLR4 390243 broad.mit.edu 37 11 94040846 94040846 + Silent SNP G G A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr11:94040846G>A uc021qou.1 + 3 741 c.741G>A c.(739-741)ccG>ccA p.P247P NM_001199206 NP_001186135 A6ND01 FOLR4_HUMAN Homo sapiens folate receptor 4 (delta) homolog (mouse) (FOLR4), mRNA. 247 extracellular region folic acid binding|receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 TGTTCCTGCCGTTCCTTTCCT 0.617 BCAT1 586 broad.mit.edu 37 12 25047326 25047326 + Silent SNP C C T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr12:25047326C>T uc001rgd.4 - 2 689 c.162G>A c.(160-162)acG>acA p.T54T BCAT1_uc001rgc.3_Silent_p.T53T|BCAT1_uc010six.2_Silent_p.T66T|BCAT1_uc010siy.2_Silent_p.T54T|BCAT1_uc001rge.4_Silent_p.T30T NM_005504 NP_005495 P54687 BCAT1_HUMAN Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 1, mRNA. 54 branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle cytosol L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity breast(1)|large_intestine(1)|lung(3)|prostate(2) 7 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114) GCATATGATCCGTGAACACAG 0.453 CIT 11113 broad.mit.edu 37 12 120142198 120142198 + Silent SNP G G A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr12:120142198G>A uc001txj.2 - 40 5330 c.5274C>T c.(5272-5274)aaC>aaT p.N1758N CIT_uc001txh.2_Silent_p.N1235N|CIT_uc001txi.2_Silent_p.N1716N NM_001206999 NP_001193928 O14578 CTRO_HUMAN Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA. 1716 CNH. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TGAGGTTTTCGTTGTAGCGGA 0.512 AACS 65985 broad.mit.edu 37 12 125621257 125621257 + Silent SNP C C T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr12:125621257C>T uc001uhc.3 + 16 1934 c.1728C>T c.(1726-1728)aaC>aaT p.N576N AACS_uc001uhd.3_Intron|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_Silent_p.N174N NM_023928 NP_076417 Q86V21 AACS_HUMAN Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA. 576 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) CCCAGTATAACAAGTACAGGG 0.597 GALNT9 50614 broad.mit.edu 37 12 132688129 132688129 + Missense_Mutation SNP C C T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr12:132688129C>T uc001ukc.4 - 6 1300 c.1184G>A c.(1183-1185)cGc>cAc p.R395H GALNT9_uc009zyr.3_Missense_Mutation_p.R169H|GALNT9_uc001ukb.3_Missense_Mutation_p.R252H|GALNT9_uc001uka.3_Missense_Mutation_p.R29H NM_001122636 NP_001116108 Q9HCQ5 GALT9_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) (GALNT9), transcript variant A, mRNA. 395 protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1)|endometrium(1)|large_intestine(2)|lung(5) 9 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05) CAGGGCGTTGCGCTTGGCATA 0.637 HTR2A 3356 broad.mit.edu 37 13 47466570 47466570 + Missense_Mutation SNP T T C TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr13:47466570T>C uc010acr.3 - 2 1257 c.568A>G c.(568-570)Act>Gct p.T190A HTR2A_uc001vbr.3_Missense_Mutation_p.T106A NM_000621 NP_000612 P28223 5HT2A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA. 190 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) AATGCCTTAGTTCTGGAGTTG 0.493 DIS3 22894 broad.mit.edu 37 13 73355005 73355005 + Missense_Mutation SNP G G A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr13:73355005G>A uc001vix.4 - 1 739 c.365C>T c.(364-366)aCt>aTt p.T122I PIBF1_uc010aeo.1_5'Flank|PIBF1_uc001vjb.3_5'Flank|PIBF1_uc001vjc.3_5'Flank|PIBF1_uc010aep.3_5'Flank|DIS3_uc001viy.4_Intron|DIS3_uc001viz.3_Non-coding_Transcript NM_014953 NP_055768 Q9Y2L1 RRP44_HUMAN Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA. 122 PINc. CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) ATTAGTGAAAGTATAGAAATG 0.388 Multiple Myeloma(4;0.011) KIAA0430 9665 broad.mit.edu 37 16 15692768 15692768 + Missense_Mutation SNP C C T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr16:15692768C>T uc002ddr.3 - 25 5134 c.4927G>A c.(4927-4929)Gtt>Att p.V1643I KIAA0430_uc002ddq.3_Missense_Mutation_p.V1477I|KIAA0430_uc010uzv.2_Missense_Mutation_p.V1640I|KIAA0430_uc010uzw.2_Missense_Mutation_p.V1643I NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA. 1642 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TGGAGGATAACGGGGTCTGGT 0.592 VPS35 55737 broad.mit.edu 37 16 46694426 46694426 + Silent SNP T T G TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr16:46694426T>G uc002eef.4 - 16 2448 c.2349A>C c.(2347-2349)tcA>tcC p.S783S VPS35_uc002eed.3_3'UTR|VPS35_uc002eee.3_Silent_p.S744S NM_018206 NP_060676 Q96QK1 VPS35_HUMAN Homo sapiens vacuolar protein sorting 35 homolog (S. cerevisiae) (VPS35), mRNA. 783 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1) 23 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) CGGATTCTGGTGATTCCCGCC 0.438 ABCC11 85320 broad.mit.edu 37 16 48247385 48247385 + Missense_Mutation SNP G G A rs148839428 TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr16:48247385G>A uc002eff.1 - 8 1675 c.1325C>T c.(1324-1326)aCg>aTg p.T442M ABCC11_uc002efg.1_Missense_Mutation_p.T442M|ABCC11_uc002efh.1_Missense_Mutation_p.T442M|ABCC11_uc010vgk.1_Non-coding_Transcript NM_033151 NP_149163 Q96J66 ABCCB_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA. 442 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CTTGGAATTCGTGAGACCTTT 0.552 CNGB1 1258 broad.mit.edu 37 16 57993926 57993926 + Silent SNP G G A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr16:57993926G>A uc002emt.2 - 9 692 c.627C>T c.(625-627)gcC>gcT p.A209A CNGB1_uc010cdh.2_Silent_p.A203A|CNGB1_uc002emu.2_Silent_p.A209A NM_001297 NP_001288 Q14028 CNGB1_HUMAN Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA. 209 Pro-rich. sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 GGGTCTCCCGGGCCTGCAGCT 0.687 SMTNL2 342527 broad.mit.edu 37 17 4496362 4496362 + Missense_Mutation SNP G G A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr17:4496362G>A uc002fyf.1 + 2 693 c.626G>A c.(625-627)gGg>gAg p.G209E SMTNL2_uc002fye.2_Missense_Mutation_p.G65E NM_001114974 NP_940903 Q2TAL5 SMTL2_HUMAN Homo sapiens smoothelin-like 2 (SMTNL2), transcript variant 1, mRNA. 209 breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1) 13 READ - Rectum adenocarcinoma(115;0.0325) AGGTTCTCTGGGGAGACCTCA 0.657 TMEM220 388335 broad.mit.edu 37 17 10628403 10628403 + Missense_Mutation SNP G G A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr17:10628403G>A uc002gmx.3 - 3 690 c.212C>T c.(211-213)aCg>aTg p.T71M TMEM220_uc002gmy.3_Missense_Mutation_p.T61M NM_001004313 NP_001004313 Q6QAJ8 TM220_HUMAN Homo sapiens transmembrane protein 220 (TMEM220), mRNA. 71 integral to membrane p.T71M(2) kidney(1)|large_intestine(1)|lung(1)|prostate(2) 5 AGCCCACACCGTACAAAAGAG 0.448 HAP1 9001 broad.mit.edu 37 17 39884047 39884047 + Silent SNP C C T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr17:39884047C>T uc002hxm.1 - 7 1254 c.1242G>A c.(1240-1242)tcG>tcA p.S414S JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Silent_p.S414S|HAP1_uc002hxo.1_Intron|HAP1_uc002hxp.1_Intron NM_177977 NP_817084 P54257 HAP1_HUMAN Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA. 414 Glu-rich.|HAP1 N-terminal. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) TTTCCTTCTCCGAAGCCAGCT 0.622 MUC16 94025 broad.mit.edu 37 19 9071728 9071728 + Missense_Mutation SNP T T C TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr19:9071728T>C uc002mkp.3 - 2 15922 c.15718A>G c.(15718-15720)Aag>Gag p.K5240E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5242 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.D5239N(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACTGTGGACTTATCATGGTCT 0.478 CD22 933 broad.mit.edu 37 19 35832284 35832285 + Frame_Shift_Ins INS - - T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr19:35832284_35832285insT uc010edt.3 + 7 1630_1631 c.1546_1547insT c.(1546-1548)cttfs p.L516fs CD22_uc010edu.3_Frame_Shift_Ins_p.L428fs|CD22_uc010edv.3_Frame_Shift_Ins_p.L516fs|CD22_uc002nzb.4_Frame_Shift_Ins_p.L339fs|CD22_uc010xst.2_Frame_Shift_Ins_p.L344fs|CD22_uc010edx.3_Non-coding_Transcript NM_001771 NP_001762 P20273 CD22_HUMAN Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA. 516 Ig-like C2-type 5. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) AATCAAGCCCCTTTCCGAGATT 0.574 GLTSCR2 29997 broad.mit.edu 37 19 48259848 48259848 + Nonsense_Mutation SNP C C T rs141718194 TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr19:48259848C>T uc002phm.2 + 10 1384 c.1360C>T c.(1360-1362)Cga>Tga p.R454* GLTSCR2_uc010elk.1_Non-coding_Transcript NM_015710 NP_056525 Q9NZM5 GSCR2_HUMAN Homo sapiens glioma tumor suppressor candidate region gene 2 (GLTSCR2), mRNA. 454 EGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAFR EIQL -> RGQHSFETGSRAFRGGI (in Ref. 3; AAG30413).|PEGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAF REIQ -> VLTVSCRGAPCPVMTPSLLPVPPRGYGRHHGCP WAGPVGPMPRG (in Ref. 5). nucleolus central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 15 all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278) GATCGAGCCTCGAGAGAGAGC 0.632 NLRP12 91662 broad.mit.edu 37 19 54304629 54304629 + Missense_Mutation SNP C C T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr19:54304629C>T uc002qcj.4 - 6 2831 c.2611G>A c.(2611-2613)Gct>Act p.A871T NLRP12_uc010eqw.3_Missense_Mutation_p.A153T|NLRP12_uc002qch.4_Missense_Mutation_p.A870T|NLRP12_uc002qci.4_Missense_Mutation_p.A870T|NLRP12_uc002qck.4_Intron|NLRP12_uc010eqx.3_Intron NM_144687 NP_653288 P59046 NAL12_HUMAN Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA. 870 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CAGGCAGCAGCAGTGAGGCGG 0.493 SMEK2 57223 broad.mit.edu 37 2 55791468 55791468 + Silent SNP C C T rs145292231 TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr2:55791468C>T uc002rzc.3 - 14 2933 c.2241G>A c.(2239-2241)aaG>aaA p.K747K SMEK2_uc002rzb.3_Silent_p.K662K|SMEK2_uc002rzd.3_Silent_p.K715K|SMEK2_uc002ryz.3_Silent_p.K174K|SMEK2_uc002rza.3_Silent_p.K531K NM_001122964 NP_001116436 Q5MIZ7 P4R3B_HUMAN Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA. 747 microtubule organizing center|nucleus protein binding kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TCTCCATAAACTTTTCATAAT 0.333 TTN 7273 broad.mit.edu 37 2 179594120 179594120 + Missense_Mutation SNP T T A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr2:179594120T>A uc021vsy.1 - 60 15256 c.15031A>T c.(15031-15033)Aac>Tac p.N5011Y TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N1672Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 5938 Ig-like 30. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATATGGAGGTTAAACACAGAC 0.463 INPP5D 3635 broad.mit.edu 37 2 233944058 233944058 + Missense_Mutation SNP G G A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr2:233944058G>A uc010zmo.2 + 1 301 c.148G>A c.(148-150)Gtt>Att p.V50I INPP5D_uc010zmp.2_Missense_Mutation_p.V50I NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA. 50 SH2. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TCGGAATTGCGTTTACACTTA 0.403 NCOR1P1 149934 broad.mit.edu 37 20 26094557 26094557 + Silent SNP A A C TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr20:26094557A>C uc002wvj.4 - 0 121 c.66T>G c.(64-66)ccT>ccG p.P22P Homo sapiens nuclear receptor corepressor 1 pseudogene 1 (NCOR1P1), non-coding RNA. TTACAGAGTGAGGAGGATAAT 0.418 WFDC13 164237 broad.mit.edu 37 20 44334525 44334525 + Missense_Mutation SNP T T C TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr20:44334525T>C uc002xpd.3 + 2 371 c.263T>C c.(262-264)gTc>gCc p.V88A WFDC10B_uc002xpb.3_5'Flank|WFDC10B_uc002xpc.3_5'Flank NM_172005 NP_742002 Q8IUB5 WFD13_HUMAN Homo sapiens WAP four-disulfide core domain 13 (WFDC13), mRNA. 88 extracellular region peptidase inhibitor activity skin(1)|upper_aerodigestive_tract(1) 2 Myeloproliferative disorder(115;0.0122) GGCTCAGAAGTCATCATGCCT 0.353 LRRC3B 116135 broad.mit.edu 37 3 26751911 26751911 + Missense_Mutation SNP G G A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr3:26751911G>A uc003cdp.3 + 1 1337 c.748G>A c.(748-750)Gat>Aat p.D250N LRRC3B_uc003cdq.3_Missense_Mutation_p.D250N|LRRC3B_uc021wuj.1_Missense_Mutation_p.D250N NM_052953 NP_443185 Q96PB8 LRC3B_HUMAN Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA. 250 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 21 GAAGAAAGCAGATGAACCTGA 0.418 AZI2 64343 broad.mit.edu 37 3 28381958 28381958 + Nonsense_Mutation SNP G G A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr3:28381958G>A uc003ceb.3 - 1 683 c.151C>T c.(151-153)Cga>Tga p.R51* AZI2_uc003cec.3_5'UTR|AZI2_uc003cee.4_Nonsense_Mutation_p.R51*|AZI2_uc011axd.1_Nonsense_Mutation_p.R51*|AZI2_uc003ceg.2_Nonsense_Mutation_p.R51* NM_022461 NP_071906 Q9H6S1 AZI2_HUMAN Homo sapiens 5-azacytidine induced 2 (AZI2), transcript variant 1, mRNA. 51 mitochondrion|plasma membrane p.K50K(2) cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 TCCTTAAGTCGTTTTTTGATG 0.338 IMPG2 50939 broad.mit.edu 37 3 100951684 100951684 + Silent SNP A A G TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr3:100951684A>G uc003duq.2 - 14 3377 c.3174T>C c.(3172-3174)ccT>ccC p.P1058P IMPG2_uc011bhe.2_Silent_p.P921P|IMPG2_uc010hpj.1_Non-coding_Transcript NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA. 1058 EGF-like 2. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 AGCAGAAGTCAGGCTGTAGGT 0.488 DZIP3 9666 broad.mit.edu 37 3 108353719 108353719 + Missense_Mutation SNP G G T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr3:108353719G>T uc003dxd.3 + 10 1239 c.817_splice c.e10-1 p.G273_splice DZIP3_uc003dxf.1_Splice_Site_p.G273_splice|DZIP3_uc011bhm.2_Intron|DZIP3_uc003dxe.1_Splice_Site_p.G273_splice|DZIP3_uc003dxg.1_Splice_Site NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA. 273 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 TTTTTCCAGGGATTTTTTCAG 0.254 COL6A5 256076 broad.mit.edu 37 3 130159044 130159044 + Silent SNP T T C TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr3:130159044T>C uc010htj.1 + 34 6356 c.5862T>C c.(5860-5862)gcT>gcC p.A1954A COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_5'UTR|COL6A5_uc010htk.1_5'UTR NM_153264 NP_694996 A8TX70 CO6A5_HUMAN Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA. 1954 Nonhelical region.|VWFA 8. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 TTCGAGAGGCTTTCTTACCTG 0.403 CEP70 80321 broad.mit.edu 37 3 138289888 138289888 + Missense_Mutation SNP T T C TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr3:138289888T>C uc003esl.3 - 4 470 c.272A>G c.(271-273)aAt>aGt p.N91S CEP70_uc011bmk.2_Missense_Mutation_p.N71S|CEP70_uc011bml.2_Missense_Mutation_p.N73S|CEP70_uc011bmm.2_Intron|CEP70_uc003esm.3_Missense_Mutation_p.N91S|CEP70_uc003esn.3_Missense_Mutation_p.N91S NM_024491 NP_077817 Q8NHQ1 CEP70_HUMAN Homo sapiens centrosomal protein 70kDa (CEP70), mRNA. 91 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 AAGCTGTTGATTAGTTTCTAT 0.318 PHC3 80012 broad.mit.edu 37 3 169840418 169840418 + Missense_Mutation SNP C C T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr3:169840418C>T uc003fgl.2 - 8 1937 c.1903G>A c.(1903-1905)Ggg>Agg p.G635R PHC3_uc010hws.1_Missense_Mutation_p.G623R|PHC3_uc011bpq.1_Missense_Mutation_p.G582R NM_024947 NP_079223 Q8NDX5 PHC3_HUMAN Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA. 623 Pro-rich. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) TCTCCTCTCCCCACTGTTATA 0.393 FNDC3B 64778 broad.mit.edu 37 3 172096143 172096143 + Missense_Mutation SNP A A G TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr3:172096143A>G uc003fhy.3 + 23 3264 c.3092A>G c.(3091-3093)cAg>cGg p.Q1031R FNDC3B_uc003fhz.4_Missense_Mutation_p.Q1031R NM_022763 NP_073600 Q53EP0 FND3B_HUMAN Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA. 1031 Fibronectin type-III 8. endoplasmic reticulum|integral to membrane p.Q1031H(1) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) TTCAGAATCCAGGCAGCAAGC 0.493 SH3TC1 54436 broad.mit.edu 37 4 8229589 8229589 + Missense_Mutation SNP C C T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr4:8229589C>T uc003gkv.4 + 11 2269 c.2168C>T c.(2167-2169)cCc>cTc p.P723L SH3TC1_uc003gkw.4_Missense_Mutation_p.P647L|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA. 723 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 AAGTGCCTGCCCCACCTGGTG 0.657 DRD5 1816 broad.mit.edu 37 4 9784937 9784937 + Silent SNP C C T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr4:9784937C>T uc003gmb.4 + 0 1680 c.1284C>T c.(1282-1284)gaC>gaT p.D428D NM_000798 NP_000789 P21918 DRD5_HUMAN Homo sapiens dopamine receptor D5 (DRD5), mRNA. 428 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane p.D428D(2) NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TGGACAACGACGAGGAGGAGG 0.582 KIAA1211 57482 broad.mit.edu 37 4 57181748 57181748 + Missense_Mutation SNP G G A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr4:57181748G>A uc003hbk.2 + 7 2471 c.2080G>A c.(2080-2082)Ggt>Agt p.G694S KIAA1211_uc010iha.2_Missense_Mutation_p.G687S|KIAA1211_uc011bzz.1_Missense_Mutation_p.G604S|KIAA1211_uc003hbm.1_Missense_Mutation_p.G580S NM_020722 NP_065773 Q6ZU35 K1211_HUMAN Homo sapiens KIAA1211 (KIAA1211), mRNA. 694 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) GTTGAGGCCCGGTGATGAGTC 0.602 OTUD4 54726 broad.mit.edu 37 4 146077118 146077118 + Silent SNP C C T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr4:146077118C>T uc003ika.4 - 7 603 c.465G>A c.(463-465)gtG>gtA p.V155V NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA. 220 OTU. protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) TAAATCCATTCACATCAGCAG 0.328 EFNA5 1946 broad.mit.edu 37 5 106762936 106762936 + Nonsense_Mutation SNP G G A rs142282920 TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr5:106762936G>A uc003kol.3 - 1 682 c.400C>T c.(400-402)Cga>Tga p.R134* EFNA5_uc010jbr.1_Nonsense_Mutation_p.R134* NM_001962 NP_001953 P52803 EFNA5_HUMAN Homo sapiens ephrin-A5 (EFNA5), mRNA. 134 cell-cell signaling anchored to plasma membrane|caveola|extracellular space ephrin receptor binding large_intestine(6) 6 all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241) Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109) AAATATTCTCGGCCTGGCCTG 0.428 TBC1D9B 23061 broad.mit.edu 37 5 179315134 179315134 + Missense_Mutation SNP C C T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr5:179315134C>T uc003mlh.3 - 6 1258 c.1223G>A c.(1222-1224)aGg>aAg p.R408K TBC1D9B_uc003mli.3_Missense_Mutation_p.R408K|TBC1D9B_uc003mlj.3_Missense_Mutation_p.R408K NM_198868 NP_942568 Q66K14 TBC9B_HUMAN Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA. 408 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACTGGCTTTCCTGCTCCCGAT 0.567 KHDRBS2 202559 broad.mit.edu 37 6 62604633 62604633 + Silent SNP T T A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr6:62604633T>A uc003peg.2 - 5 964 c.717A>T c.(715-717)gcA>gcT p.A239A NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA. 239 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) GGACACCTCTTGCTACAGGTG 0.607 GPR85 54329 broad.mit.edu 37 7 112724285 112724288 + Frame_Shift_Del DEL TGAG TGAG - TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr7:112724285_112724288delTGAG uc010ljv.2 - 1 1006_1009 c.489_492delCTCA c.(487-492)tactcafs p.Y163fs GPR85_uc003vgp.1_Frame_Shift_Del_p.Y163fs|GPR85_uc003vgq.2_Frame_Shift_Del_p.Y163fs|GPR85_uc010ljw.1_Frame_Shift_Del_p.Y163fs|GPR85_uc022akd.1_Frame_Shift_Del_p.Y163fs NM_001146266 NP_061843 P60893 GPR85_HUMAN Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA. 163 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 17 CCCTAATGAATGAGTAAGTGCCCA 0.500 GIMAP6 474344 broad.mit.edu 37 7 150325381 150325381 + Missense_Mutation SNP G G A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr7:150325381G>A uc022apv.1 - 2 995 c.515C>T c.(514-516)cCc>cTc p.P172L GIMAP6_uc003whn.3_Missense_Mutation_p.P102L|GIMAP6_uc003whm.3_Intron NM_001244072 NP_001231001 Q6P9H5 GIMA6_HUMAN Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA. 102 GTP binding p.G171S(1) endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGAGACCTGGGGGGACAGAAT 0.622 ABP1 26 broad.mit.edu 37 7 150554420 150554420 + Missense_Mutation SNP C C T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr7:150554420C>T uc003why.1 + 2 5080 c.862C>T c.(862-864)Cgc>Tgc p.R288C ABP1_uc003whz.1_Missense_Mutation_p.R288C|ABP1_uc003wia.1_Missense_Mutation_p.R288C NM_001091 NP_001082 P19801 ABP1_HUMAN Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA. 288 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) CCACAAGCCCCGCGGGGACTT 0.697 CPA6 57094 broad.mit.edu 37 8 68419124 68419124 + Splice_Site SNP C C G TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr8:68419124C>G uc003xxq.4 - 6 791 c.535_splice c.e6-1 p.L179_splice CPA6_uc003xxr.4_Splice_Site_p.L31_splice|CPA6_uc003xxs.2_Splice_Site_p.L179_splice NM_020361 NP_065094 Q8N4T0 CBPA6_HUMAN Homo sapiens carboxypeptidase A6 (CPA6), mRNA. 179 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) GTCTGCCCAGCTGAAAACAAG 0.408 CDH17 1015 broad.mit.edu 37 8 95189845 95189845 + Silent SNP G G A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr8:95189845G>A uc003ygh.2 - 3 380 c.255C>T c.(253-255)gaC>gaT p.D85D CDH17_uc011lgo.1_Silent_p.D85D|CDH17_uc011lgp.1_Silent_p.D85D NM_004063 NP_004054 Q12864 CAD17_HUMAN Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA. 85 Cadherin 1. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) TTGTTTCCCTGTCCAAGGCTC 0.458 NFIB 4781 broad.mit.edu 37 9 14307244 14307244 + Silent SNP C C T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr9:14307244C>T uc022bdo.1 - 1 841 c.306G>A c.(304-306)ccG>ccA p.P102P NFIB_uc003zlf.3_Silent_p.P102P|NFIB_uc003zle.3_Silent_p.P102P|NFIB_uc022bdp.1_Silent_p.P128P|NFIB_uc011lmo.2_Silent_p.P102P NM_001190737 NP_001177666 O00712 NFIB_HUMAN Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA. 102 anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) AGACACAGCACGGGTGCTTCT 0.527 T """MYB, HGMA2""" """adenoid cystic carcinoma, lipoma""" SHB 6461 broad.mit.edu 37 9 37948668 37948668 + Missense_Mutation SNP C C T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr9:37948668C>T uc004aax.3 - 4 1878 c.1310G>A c.(1309-1311)aGc>aAc p.S437N NM_003028 NP_003019 Q15464 SHB_HUMAN Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA. 437 SH2. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) GCTGGTCTGGCTGTTCCGGAC 0.647 ALDOB 229 broad.mit.edu 37 9 104187273 104187273 + Missense_Mutation SNP A A T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr9:104187273A>T uc004bbk.2 - 7 933 c.851T>A c.(850-852)cTc>cAc p.L284H NM_000035 NP_000026 P05062 ALDOB_HUMAN Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA. 284 L -> P (in HFI). fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1) 24 Acute lymphoblastic leukemia(62;0.0559) GATAGCATTGAGGTTGAGAGT 0.517 PTGS1 5742 broad.mit.edu 37 9 125146014 125146014 + Missense_Mutation SNP C C T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr9:125146014C>T uc004bmg.1 + 7 1124 c.989C>T c.(988-990)aCg>aTg p.T330M PTGS1_uc011lys.1_Missense_Mutation_p.T305M|PTGS1_uc010mwb.1_Missense_Mutation_p.T221M|PTGS1_uc004bmf.1_Missense_Mutation_p.T330M|PTGS1_uc004bmh.1_Missense_Mutation_p.T221M|PTGS1_uc011lyt.1_Missense_Mutation_p.T221M NM_000962 NP_000953 P23219 PGH1_HUMAN Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA. 330 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) CTTTTCCAGACGACCCGCCTC 0.607 COQ4 51117 broad.mit.edu 37 9 131088069 131088069 + Missense_Mutation SNP G G A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chr9:131088069G>A uc004bur.4 + 3 658 c.311G>A c.(310-312)cGg>cAg p.R104Q COQ4_uc011max.1_Missense_Mutation_p.R104Q|COQ4_uc010mxy.3_Missense_Mutation_p.R80Q NM_016035 NP_057119 Q9Y3A0 COQ4_HUMAN Homo sapiens coenzyme Q4 homolog (S. cerevisiae) (COQ4), nuclear gene encoding mitochondrial protein, mRNA. 104 ubiquinone biosynthetic process mitochondrial inner membrane endometrium(4)|large_intestine(1)|lung(4) 9 GAGCGTCCCCGGATTTCGACA 0.587 KLHL15 80311 broad.mit.edu 37 X 24006559 24006559 + Missense_Mutation SNP C C T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chrX:24006559C>T uc004dba.4 - 3 1550 c.1294G>A c.(1294-1296)Ggt>Agt p.G432S NM_030624 NP_085127 Q96M94 KLH15_HUMAN Homo sapiens kelch-like 15 (Drosophila) (KLHL15), mRNA. 432 autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 22 GTGATTCCACCGGTGATAAAC 0.443 FGD1 2245 broad.mit.edu 37 X 54496521 54496521 + Silent SNP G G A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chrX:54496521G>A uc004dtg.3 - 3 1763 c.1029C>T c.(1027-1029)gaC>gaT p.D343D FGD1_uc011moi.1_Silent_p.D101D NM_004463 NP_004454 P98174 FGD1_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA. 343 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 cctcctcgtcgtcctcctcct 0.627 ZMYM3 9203 broad.mit.edu 37 X 70467290 70467290 + Missense_Mutation SNP C C T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chrX:70467290C>T uc004dzh.2 - 12 2398 c.2219G>A c.(2218-2220)cGt>cAt p.R740H BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.R740H|ZMYM3_uc004dzj.2_Missense_Mutation_p.R740H NM_201599 NP_963893 Q14202 ZMYM3_HUMAN Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA. 740 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) GCAGAAATGACGGATCTGCCC 0.582 CAPN6 827 broad.mit.edu 37 X 110494147 110494147 + Missense_Mutation SNP G G T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chrX:110494147G>T uc004epc.2 - 7 1347 c.1156C>A c.(1156-1158)Cag>Aag p.Q386K CAPN6_uc011msu.2_Missense_Mutation_p.Q131K NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN Homo sapiens calpain 6 (CAPN6), mRNA. 386 Domain III. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding p.Q386K(2) cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 ACTCAAACCTGGGGATTCTGC 0.453 DDX26B 203522 broad.mit.edu 37 X 134714081 134714081 + Missense_Mutation SNP G G C TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chrX:134714081G>C uc004eyw.4 + 14 2740 c.2377G>C c.(2377-2379)Ggt>Cgt p.G793R DDX26B_uc004eyx.4_Missense_Mutation_p.G394R NM_182540 NP_872346 Q5JSJ4 DX26B_HUMAN Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA. 793 large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) TCGAAAGTTTGGTCGAAGTAA 0.373 GPR101 83550 broad.mit.edu 37 X 136113330 136113330 + Silent SNP G G A TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chrX:136113330G>A uc011mwh.2 - 0 504 c.504C>T c.(502-504)taC>taT p.Y168Y NM_054021 NP_473362 Q96P66 GP101_HUMAN Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA. 168 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) GGCCCCAGCCGTAGAGTGGAG 0.607 SOX3 6658 broad.mit.edu 37 X 139587063 139587063 + Missense_Mutation SNP C C T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chrX:139587063C>T uc004fbd.1 - 0 163 c.163G>A c.(163-165)Gct>Act p.A55T NM_005634 NP_005625 P41225 SOX3_HUMAN Homo sapiens SRY (sex determining region Y)-box 3 (SOX3), mRNA. 55 face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 10 Acute lymphoblastic leukemia(192;7.65e-05) GGGGCTGGAGCGGCCACGGTG 0.667 SLITRK2 84631 broad.mit.edu 37 X 144906039 144906039 + Missense_Mutation SNP C C T TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chrX:144906039C>T uc022cfn.1 + 0 2096 c.2096C>T c.(2095-2097)cCc>cTc p.P699L SLITRK2_uc004fcd.3_Missense_Mutation_p.P699L|SLITRK2_uc010nsp.3_Missense_Mutation_p.P699L|SLITRK2_uc010nso.3_Missense_Mutation_p.P699L|SLITRK2_uc011mwq.2_Missense_Mutation_p.P699L|SLITRK2_uc011mwr.2_Missense_Mutation_p.P699L|SLITRK2_uc011mws.2_Missense_Mutation_p.P699L|SLITRK2_uc004fcg.3_Missense_Mutation_p.P699L|SLITRK2_uc011mwt.2_Missense_Mutation_p.P699L|CXorf1_uc004fch.3_5'Flank NM_032539 NP_115928 Q9H156 SLIK2_HUMAN Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA. 699 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) TGCCAAAACCCCATCTACATG 0.478 GPR50 9248 broad.mit.edu 37 X 150348278 150348278 + Missense_Mutation SNP A A G TCGA-06-0216-01B-01D-1492-08 TCGA-06-0216-10A-01D-1492-08 Untested Somatic Phase_I WXS none Illumina GAIIx eac73a02-b2e0-4601-9bd6-aceb07594fe8 1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d g.chrX:150348278A>G uc010ntg.2 + 1 361 c.223A>G c.(223-225)Atg>Gtg p.M75V GPR50_uc011myc.2_Missense_Mutation_p.M75V NM_004224 NP_004215 Q13585 MTR1L_HUMAN Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA. 75 cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) TGTGGCCGATATGCTGGTGGC 0.507