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 AGRN 375790 broad.mit.edu 37 1 978821 978821 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr1:978821G>A uc001ack.1 + 8 1637 c.1587G>A c.(1585-1587)GCG>GCA p.A529A NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor 529 Kazal-like 5. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton central_nervous_system(2)|breast(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) TCCAGGTGGCGCGCAAAGGAC 0.687000 ACAP3 116983 broad.mit.edu 37 1 1235945 1235945 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr1:1235945C>A uc001aeb.2 - 6 540 c.466G>T c.(466-468)GCC>TCC p.A156S ACAP3_uc001ady.2_5'Flank|ACAP3_uc001aea.2_Missense_Mutation_p.A114S|ACAP3_uc001aec.1_Missense_Mutation_p.A114S NM_030649 NP_085152 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH 156 filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding 0 AGGGTGAGGGCCCCGGTGGCT 0.677000 PRAMEF1 65121 broad.mit.edu 37 1 12853478 12853478 + Silent SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr1:12853478G>T uc001auj.1 + 2 205 c.102G>T c.(100-102)GTG>GTT p.V34V NM_023013 NP_075389 O95521 PRAM1_HUMAN PRAME family member 1 34 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGCCCAGGGTGCTCTATCTCC 0.612000 PRAMEF2 65122 broad.mit.edu 37 1 12920109 12920109 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr1:12920109C>T uc001aum.1 + 3 936 c.849C>T c.(847-849)CAC>CAT p.H283H NM_023014 NP_075390 O60811 PRAM2_HUMAN PRAME family member 2 283 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCAGTGGGCACCTGGAACAGC 0.463000 PRAMEF2 65122 broad.mit.edu 37 1 12920128 12920128 + Splice_Site SNP T T C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr1:12920128T>C uc001aum.1 + 3 953 c.866_splice c.e3+2 p.R289_splice NM_023014 NP_075390 O60811 PRAM2_HUMAN PRAME family member 2 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCTGATCAGGTGAGAAAGGAT 0.478000 ELAVL4 1996 broad.mit.edu 37 1 50659454 50659454 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr1:50659454G>A uc001csb.2 + 4 640 c.372G>A c.(370-372)CCG>CCA p.P124P ELAVL4_uc001cry.3_Silent_p.P127P|ELAVL4_uc001crz.3_Silent_p.P124P|ELAVL4_uc001csa.3_Silent_p.P141P|ELAVL4_uc001csc.3_Silent_p.P124P|ELAVL4_uc009vyu.2_Silent_p.P129P|ELAVL4_uc010omz.1_Silent_p.P129P NM_021952 NP_068771 P26378 ELAV4_HUMAN ELAV-like 4 isoform 1 124 RRM 1. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding ovary(1)|pancreas(1) 2 ATGCCCGTCCGAGCTCTGCCT 0.502000 PODN 127435 broad.mit.edu 37 1 53544373 53544373 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr1:53544373C>T uc001cuv.2 + 8 1342 c.1335C>T c.(1333-1335)CGC>CGT p.R445R PODN_uc001cuw.2_Silent_p.R426R|PODN_uc010onr.1_Silent_p.R426R|PODN_uc010ons.1_Silent_p.R303R NM_153703 NP_714914 Q7Z5L7 PODN_HUMAN podocan 397 LRR 13. negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding p.R445H(1) ovary(1)|pancreas(1) 2 GCATTGGCCGCGAAGACTTTG 0.642000 LEPR 3953 broad.mit.edu 37 1 66085680 66085680 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr1:66085680C>A uc001dci.2 + 17 2667 c.2465C>A c.(2464-2466)CCA>CAA p.P822Q LEPR_uc001dcg.2_Missense_Mutation_p.P822Q|LEPR_uc001dch.2_Missense_Mutation_p.P822Q|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.P822Q|LEPR_uc001dck.2_Missense_Mutation_p.P822Q NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 822 Extracellular (Potential).|Fibronectin type-III 4. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) GTGGGAAAACCAAAGATAATT 0.328000 GBP1 2633 broad.mit.edu 37 1 89523769 89523769 + Silent SNP G G T rs1048410 TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr1:89523769G>T uc001dmx.2 - 6 1000 c.780C>A c.(778-780)CCC>CCA p.P260P NM_002053 NP_002044 P32455 GBP1_HUMAN guanylate binding protein 1, 260 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity ovary(1)|skin(1) 2 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) GCACAAATTCGGGGTCCAGCT 0.458000 GFI1 2672 broad.mit.edu 37 1 92949026 92949026 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr1:92949026C>T uc001dou.3 - 2 183 c.19G>A c.(19-21)GTC>ATC p.V7I GFI1_uc001dov.3_Missense_Mutation_p.V7I|GFI1_uc001dow.3_Missense_Mutation_p.V7I NM_001127215 NP_001120687 Q99684 GFI1_HUMAN growth factor independent 1 7 negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(1) 1 all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203) OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191) TTGCTTTTGACGAGAAATGAG 0.627000 LCE3A 353142 broad.mit.edu 37 1 152595412 152595412 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr1:152595412C>T uc010pdt.1 - 1 168 c.168G>A c.(166-168)AGG>AGA p.R56R NM_178431 NP_848518 Q5TA76 LCE3A_HUMAN late cornified envelope 3A 56 keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AACGGTGAGACCTGCGGCATC 0.652000 IL6R 3570 broad.mit.edu 37 1 154437709 154437709 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr1:154437709C>T uc001fez.1 + 10 1697 c.1260C>T c.(1258-1260)CCC>CCT p.P420P IL6R_uc001ffa.1_3'UTR NM_000565 NP_000556 P08887 IL6RA_HUMAN interleukin 6 receptor isoform 1 precursor 420 Cytoplasmic (Potential). acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity ovary(3)|breast(1) 4 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GGCCTCGACCCACCCCAGTGC 0.622000 CD5L 922 broad.mit.edu 37 1 157803062 157803062 + Missense_Mutation SNP T T A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr1:157803062T>A uc001frk.3 - 5 1102 c.959A>T c.(958-960)CAG>CTG p.Q320L NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 320 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CTCCAGGGACTGCTCCTCCCC 0.572000 ATP1B1 481 broad.mit.edu 37 1 169096600 169096600 + RNA SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr1:169096600C>T uc001gfs.1 + 4 c.642C>T uc010plp.1_5'Flank P05026 AT1B1_HUMAN Synthetic construct DNA, clone: pF1KB8186, Homo sapiens ATP1B1 gene for ATPase, Na+/K+ transporting, beta 1 polypeptide, without stop codon, in Flexi system. ATP biosynthetic process|blood coagulation|leukocyte migration sodium:potassium-exchanging ATPase complex protein binding|sodium:potassium-exchanging ATPase activity ovary(1) 1 all_hematologic(923;0.208) GAGGGCAAACCGTGCATTATT 0.378000 KIF14 9928 broad.mit.edu 37 1 200567489 200567489 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr1:200567489C>T uc010ppk.1 - 14 2864 c.2425G>A c.(2425-2427)GAT>AAT p.D809N KIF14_uc010ppj.1_Missense_Mutation_p.D318N NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 809 microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 AGTTGTGGATCTTCATTCAGA 0.328000 ADORA1 134 broad.mit.edu 37 1 203134855 203134855 + Missense_Mutation SNP A A C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr1:203134855A>C uc001gze.1 + 4 1241 c.808A>C c.(808-810)ACC>CCC p.T270P FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Missense_Mutation_p.T270P|ADORA1_uc010pqg.1_Missense_Mutation_p.T202P|ADORA1_uc009xak.1_Missense_Mutation_p.Y195S|ADORA1_uc010pqh.1_Missense_Mutation_p.T303P NM_000674 NP_000665 P30542 AA1R_HUMAN adenosine A1 receptor 270 Helical; Name=7; (Potential). induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis integral to plasma membrane large_intestine(1) 1 Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277) CAGCATCCTTACCTACATTGC 0.557000 MARK1 4139 broad.mit.edu 37 1 220835358 220835358 + Silent SNP C C T rs141632214 TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr1:220835358C>T uc001hmn.3 + 18 2835 c.2238C>T c.(2236-2238)GAC>GAT p.D746D MARK1_uc009xdw.2_Silent_p.D747D|MARK1_uc010pun.1_Silent_p.D731D|MARK1_uc001hmm.3_Silent_p.D709D NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 746 KA1. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1) 10 GBM - Glioblastoma multiforme(131;0.0407) TCCATGGAGACGCTAGACAGG 0.438000 OBSCN 84033 broad.mit.edu 37 1 228432152 228432152 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr1:228432152G>T uc009xez.1 + 11 3405 c.3361G>T c.(3361-3363)GGC>TGC p.G1121C OBSCN_uc001hsn.2_Missense_Mutation_p.G1121C NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1121 Ig-like 11. G -> R. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CTCAAAAGTGGGCATGGAGGT 0.637000 LYST 1130 broad.mit.edu 37 1 235973152 235973152 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr1:235973152C>A uc001hxj.2 - 5 1141 c.966G>T c.(964-966)TTG>TTT p.L322F LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.L322F NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 322 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TCCTTTGAATCAAAGCCACCG 0.443000 Chediak-Higashi_syndrome RYR2 6262 broad.mit.edu 37 1 237947996 237947996 + Silent SNP A A G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr1:237947996A>G uc001hyl.1 + 90 13104 c.12984A>G c.(12982-12984)GCA>GCG p.A4328A RYR2_uc010pya.1_Silent_p.A743A NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4328 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCAAAGTTGCAGAACTGTTAG 0.562000 USP6NL 9712 broad.mit.edu 37 10 11505340 11505340 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr10:11505340G>A uc001ikt.3 - 15 1908 c.1587C>T c.(1585-1587)AAC>AAT p.N529N USP6NL_uc001iks.1_Silent_p.N546N NM_014688 NP_055503 Q92738 US6NL_HUMAN USP6 N-terminal like isoform 1 529 intracellular Rab GTPase activator activity 0 TTGGCCGCACGTTTGACACCC 0.642000 MPP7 143098 broad.mit.edu 37 10 28347495 28347495 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr10:28347495C>T uc001iua.1 - 17 1740 c.1336G>A c.(1336-1338)GGC>AGC p.G446S MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Missense_Mutation_p.G446S|MPP7_uc009xla.2_Missense_Mutation_p.G446S|MPP7_uc010qdv.1_RNA NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN palmitoylated membrane protein 7 446 Guanylate kinase-like. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity ovary(1) 1 ATACTTGTGCCGTAGTAGTTG 0.323000 RBP3 5949 broad.mit.edu 37 10 48389994 48389994 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr10:48389994G>A uc001jez.2 - 1 998 c.884C>T c.(883-885)ACG>ATG p.T295M NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 295 4 X approximate tandem repeats.|1. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) GCCCTCCCACGTCTGGCTGCC 0.692000 DKK1 22943 broad.mit.edu 37 10 54074279 54074279 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr10:54074279G>T uc001jjr.2 + 1 239 c.85G>T c.(85-87)GTG>TTG p.V29L uc001jjq.1_5'Flank|uc009xox.1_5'Flank NM_012242 NP_036374 O94907 DKK1_HUMAN dickkopf homolog 1 precursor 29 negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization extracellular space|plasma membrane growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity ovary(1)|lung(1)|kidney(1) 3 TCTGCTGGGAGTGAGCGCCAC 0.657000 OREG0020191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SORCS1 114815 broad.mit.edu 37 10 108923844 108923844 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr10:108923844C>T uc001kym.2 - 1 449 c.441G>A c.(439-441)CCG>CCA p.P147P SORCS1_uc001kyl.2_Silent_p.P147P|SORCS1_uc009xxs.2_Silent_p.P147P|SORCS1_uc001kyn.1_Silent_p.P147P|SORCS1_uc001kyo.2_Silent_p.P147P NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 147 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TGGCTTTGTCCGGGTCCCGCT 0.647000 ATRNL1 26033 broad.mit.edu 37 10 117075045 117075045 + Silent SNP T T C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr10:117075045T>C uc001lcg.2 + 18 3222 c.2836T>C c.(2836-2838)TTG>CTG p.L946L ATRNL1_uc010qsm.1_Silent_p.L121L|ATRNL1_uc010qsn.1_RNA NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 946 PSI 5.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TTGTTCTGGATTGAGAACCTG 0.383000 PNLIPRP3 119548 broad.mit.edu 37 10 118196292 118196292 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr10:118196292C>T uc001lcl.3 + 2 220 c.119C>T c.(118-120)ACA>ATA p.T40I NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 40 lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) ACTTTCTCAACAGAGTTGGTA 0.433000 SEC23IP 11196 broad.mit.edu 37 10 121652327 121652327 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr10:121652327C>T uc001leu.1 + 1 105 c.33C>T c.(31-33)GGC>GGT p.G11G SEC23IP_uc010qtc.1_5'UTR NM_007190 NP_009121 Q9Y6Y8 S23IP_HUMAN Sec23-interacting protein p125 11 Interaction with SEC23A. Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding ovary(3) 3 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) GTGGCAGCGGCGGCGCCTCCA 0.617000 DMBT1 1755 broad.mit.edu 37 10 124390531 124390531 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr10:124390531G>A uc001lgk.1 + 46 5799 c.5693G>A c.(5692-5694)CGT>CAT p.R1898H DMBT1_uc001lgl.1_Missense_Mutation_p.R1888H|DMBT1_uc001lgm.1_Missense_Mutation_p.R1270H|DMBT1_uc009xzz.1_Missense_Mutation_p.R1898H|DMBT1_uc010qtx.1_Missense_Mutation_p.R618H|DMBT1_uc009yab.1_Missense_Mutation_p.R601H|DMBT1_uc009yac.1_Missense_Mutation_p.R192H NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 1898 SRCR 14. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGTGCCGGGCGTGTAGAAATT 0.493000 FOXI2 399823 broad.mit.edu 37 10 129536928 129536928 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr10:129536928C>T uc009yas.2 + 2 656 c.656C>T c.(655-657)GCG>GTG p.A219V uc009yar.1_5'Flank NM_207426 NP_997309 Q6ZQN5 FOXI2_HUMAN forkhead box I2 219 epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222) GAGGCGCCAGCGCTGGAGCCC 0.687000 IFITM5 387733 broad.mit.edu 37 11 299390 299390 + Missense_Mutation SNP C C T rs138776304 TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr11:299390C>T uc001low.1 - 1 137 c.101G>A c.(100-102)CGA>CAA p.R34Q NM_001025295 NP_001020466 A6NNB3 IFM5_HUMAN interferon induced transmembrane protein 5 34 Extracellular (Potential). multicellular organismal development|regulation of bone mineralization|response to biotic stimulus integral to membrane|plasma membrane 0 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122) CAAGTGGTCTCGAGGCGGGGG 0.682000 OR51S1 119692 broad.mit.edu 37 11 4870119 4870119 + Missense_Mutation SNP A A T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr11:4870119A>T uc010qyo.1 - 1 320 c.320T>A c.(319-321)CTA>CAA p.L107Q NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, 107 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AACCATCTGTAGAAGGCAGGC 0.542000 UBQLNL 143630 broad.mit.edu 37 11 5537086 5537086 + Missense_Mutation SNP A A G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr11:5537086A>G uc001maz.3 - 1 871 c.586T>C c.(586-588)TCA>CCA p.S196P HBG2_uc001mak.1_Intron NM_145053 NP_659490 Q8IYU4 UBQLN_HUMAN ubiquilin-like 196 large_intestine(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) AGATGTTCTGAAATGAACTGC 0.483000 LUZP2 338645 broad.mit.edu 37 11 24518846 24518846 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr11:24518846C>T uc001mqs.2 + 1 291 c.57C>T c.(55-57)AGC>AGT p.S19S LUZP2_uc009yif.2_5'UTR|LUZP2_uc009yig.2_Silent_p.S19S NM_001009909 NP_001009909 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 precursor 19 Potential. extracellular region ovary(1)|skin(1) 2 TGGTCCTCAGCACCAGGTGAG 0.657000 CHST1 8534 broad.mit.edu 37 11 45671632 45671632 + Missense_Mutation SNP T T G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr11:45671632T>G uc001mys.1 - 4 1513 c.842A>C c.(841-843)AAC>ACC p.N281T NM_003654 NP_003645 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) 281 Lumenal (Potential). galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity skin(4)|pancreas(1) 5 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GGACACGGAGTTGGAGAAGTC 0.637000 OR4C11 219429 broad.mit.edu 37 11 55371655 55371655 + Silent SNP G G C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr11:55371655G>C uc010rii.1 - 1 195 c.195C>G c.(193-195)TCC>TCG p.S65S NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, 65 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AATCTGCAAAGGACAAATAAA 0.408000 OR5D14 219436 broad.mit.edu 37 11 55563243 55563243 + Missense_Mutation SNP T T G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr11:55563243T>G uc010rim.1 + 1 212 c.212T>G c.(211-213)GTT>GGT p.V71G NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 71 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) CTCTCTTTTGTTGATTTTTGT 0.383000 OR8K3 219473 broad.mit.edu 37 11 56086292 56086292 + Silent SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr11:56086292C>A uc010rjf.1 + 1 510 c.510C>A c.(508-510)GGC>GGA p.G170G NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, 170 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) CCTTCTGTGGCTACAACGTCA 0.378000 OR8K3 219473 broad.mit.edu 37 11 56086642 56086642 + Missense_Mutation SNP T T C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr11:56086642T>C uc010rjf.1 + 1 860 c.860T>C c.(859-861)TTG>TCG p.L287S NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, 287 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) TTGAATCCCTTGATCTATAGT 0.353000 OR10Q1 219960 broad.mit.edu 37 11 57995417 57995417 + Missense_Mutation SNP T T A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr11:57995417T>A uc010rkd.1 - 1 931 c.931A>T c.(931-933)ATC>TTC p.I311F NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, 311 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(21;0.0589) GCTTTACGGATAATGGCACTC 0.498000 SCGB1D2 10647 broad.mit.edu 37 11 62010904 62010904 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr11:62010904G>A uc001ntb.2 + 2 255 c.199G>A c.(199-201)GAT>AAT p.D67N NM_006551 NP_006542 O95969 SG1D2_HUMAN lipophilin B precursor 67 extracellular space binding 0 GAGATGCACGGATCAGATGTC 0.453000 CASP4 837 broad.mit.edu 37 11 104825729 104825729 + Splice_Site SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr11:104825729C>T uc001pid.1 - 2 81 c.8_splice c.e2-1 p.E3_splice CASP4_uc001pib.1_Splice_Site|CASP4_uc009yxg.1_Splice_Site|CASP4_uc010rux.1_Splice_Site_p.E3_splice|CASP4_uc010ruy.1_Splice_Site_p.E3_splice NM_001225 NP_001216 P49662 CASP4_HUMAN caspase 4 isoform alpha precursor apoptosis|induction of apoptosis|proteolysis intracellular cysteine-type endopeptidase activity|protein binding lung(2)|ovary(1)|skin(1) 4 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357) TGGTTGCCTTCTGTTAGAAAT 0.368000 DIXDC1 85458 broad.mit.edu 37 11 111835363 111835363 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr11:111835363C>T uc001pml.2 + 2 448 c.151C>T c.(151-153)CGG>TGG p.R51W DIXDC1_uc001pmj.2_Missense_Mutation_p.R44W|DIXDC1_uc001pmk.2_Missense_Mutation_p.R51W NM_001037954 NP_001033043 Q155Q3 DIXC1_HUMAN DIX domain containing 1 isoform a 51 CH. multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytosol|focal adhesion actin binding|gamma-tubulin binding|signal transducer activity ovary(1) 1 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) ACAAGATCTCCGGGATGGGGT 0.517000 ANKK1 255239 broad.mit.edu 37 11 113270344 113270344 + Silent SNP G G C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr11:113270344G>C uc001pny.2 + 8 1747 c.1653G>C c.(1651-1653)GCG>GCC p.A551A NM_178510 NP_848605 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 551 ANK 6. ATP binding|protein serine/threonine kinase activity lung(5)|stomach(1)|ovary(1)|breast(1) 8 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) AGAGTGGAGCGGTCCCTGATG 0.592000 ANKK1 255239 broad.mit.edu 37 11 113270418 113270418 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr11:113270418G>T uc001pny.2 + 8 1821 c.1727G>T c.(1726-1728)TGC>TTC p.C576F NM_178510 NP_848605 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 576 ANK 7. ATP binding|protein serine/threonine kinase activity lung(5)|stomach(1)|ovary(1)|breast(1) 8 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) TACCTGATCTGCAAGATGCTG 0.612000 MFRP 83552 broad.mit.edu 37 11 119216153 119216153 + Silent SNP A A T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr11:119216153A>T uc001pwj.2 - 5 778 c.618T>A c.(616-618)CCT>CCA p.P206P MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Silent_p.P206P NM_031433 NP_113621 Q9BXJ0 C1QT5_HUMAN membrane frizzled-related protein Error:Variant_position_missing_in_Q9BXJ0_after_alignment collagen 0 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) CTTCAGGCTCAGGGGAGAGTT 0.507000 OR6M1 390261 broad.mit.edu 37 11 123676313 123676313 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr11:123676313G>T uc010rzz.1 - 1 745 c.745C>A c.(745-747)CAC>AAC p.H249N NM_001005325 NP_001005325 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, 249 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) TTGCTCCCGTGGGCAATGGAG 0.512000 ST3GAL4 6484 broad.mit.edu 37 11 126277484 126277484 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr11:126277484G>A uc001qds.2 + 6 515 c.296G>A c.(295-297)CGG>CAG p.R99Q ST3GAL4_uc001qdt.2_Missense_Mutation_p.R95Q|ST3GAL4_uc009zcc.2_Intron|ST3GAL4_uc009zcd.2_Missense_Mutation_p.R88Q|ST3GAL4_uc001qdu.2_Missense_Mutation_p.R95Q|ST3GAL4_uc001qdv.2_Missense_Mutation_p.R99Q|ST3GAL4_uc009zce.2_Missense_Mutation_p.R95Q|ST3GAL4_uc001qdw.2_Missense_Mutation_p.R88Q|ST3GAL4_uc001qdx.1_Missense_Mutation_p.R88Q|ST3GAL4_uc001qdy.2_5'UTR|ST3GAL4_uc001qdz.2_5'UTR NM_006278 NP_006269 Q11206 SIA4C_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 99 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity 0 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767) CTGCTCCTCCGGGTGCTAGCC 0.587000 ARHGAP32 9743 broad.mit.edu 37 11 128840133 128840133 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr11:128840133G>A uc009zcp.2 - 22 4933 c.4933C>T c.(4933-4935)CGG>TGG p.R1645W ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.R604W|ARHGAP32_uc001qez.2_Missense_Mutation_p.R1296W NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 1645 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 lung(3)|ovary(2) 5 TAGTGGACCCGGCCATTCTCA 0.498000 NTM 50863 broad.mit.edu 37 11 132177584 132177584 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr11:132177584G>A uc001qgp.2 + 4 1192 c.528G>A c.(526-528)GCG>GCA p.A176A NTM_uc001qgm.2_Silent_p.A176A|NTM_uc010sch.1_Silent_p.A167A|NTM_uc010sci.1_Silent_p.A176A|NTM_uc010scj.1_Silent_p.A135A|NTM_uc001qgo.2_Silent_p.A176A|NTM_uc001qgq.2_Silent_p.A176A|NTM_uc001qgr.2_5'UTR NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 176 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 TTCCCGCAGCGGTTGGCTTTG 0.468000 CD163L1 283316 broad.mit.edu 37 12 7531675 7531675 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr12:7531675G>T uc001qsy.2 - 9 2296 c.2270C>A c.(2269-2271)TCT>TAT p.S757Y CD163L1_uc010sge.1_Missense_Mutation_p.S767Y NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 757 SRCR 7.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 AGTGCAGCCAGAATTCGACAT 0.458000 KCNJ8 3764 broad.mit.edu 37 12 21919302 21919302 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr12:21919302G>T uc001rff.2 - 3 968 c.630C>A c.(628-630)TTC>TTA p.F210L NM_004982 NP_004973 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel J8 210 Cytoplasmic (By similarity). voltage-gated potassium channel complex 0 Levosimendan(DB00922) CACCCACTCGGAACATGAAGC 0.493000 ITPR2 3709 broad.mit.edu 37 12 26868257 26868257 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr12:26868257C>A uc001rhg.2 - 8 1247 c.830G>T c.(829-831)AGT>ATT p.S277I NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 277 Cytoplasmic (Potential).|MIR 3. activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) TGCTTTAGAACTAGTAGCAGA 0.358000 CAPRIN2 65981 broad.mit.edu 37 12 30867934 30867934 + Missense_Mutation SNP C C G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr12:30867934C>G uc001rji.1 - 15 3360 c.2609G>C c.(2608-2610)AGA>ACA p.R870T CAPRIN2_uc001rjf.1_Missense_Mutation_p.R666T|CAPRIN2_uc001rjg.1_Missense_Mutation_p.R537T|CAPRIN2_uc001rjh.1_Missense_Mutation_p.R820T|CAPRIN2_uc001rjj.1_Missense_Mutation_p.R536T|CAPRIN2_uc001rjk.3_Missense_Mutation_p.R869T|CAPRIN2_uc001rjl.3_Missense_Mutation_p.R814T|CAPRIN2_uc001rjm.1_3'UTR NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN C1q domain containing 1 isoform 1 870 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) GGTTATTAATCTCCCACCACG 0.423000 GPD1 2819 broad.mit.edu 37 12 50498370 50498370 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr12:50498370G>A uc001rvz.2 + 2 88 c.55G>A c.(55-57)GCC>ACC p.A19T GPD1_uc010smp.1_Missense_Mutation_p.A19T|GPD1_uc001rwa.2_Missense_Mutation_p.A19T NM_005276 NP_005267 P21695 GPDA_HUMAN glycerol-3-phosphate dehydrogenase 1 (soluble) 19 glycerol-3-phosphate catabolic process|triglyceride biosynthetic process cytosol|glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|protein homodimerization activity 0 NADH(DB00157) CTCAGCCATCGCCAAGATCGT 0.592000 TRHDE 29953 broad.mit.edu 37 12 72866849 72866849 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr12:72866849G>T uc001sxa.2 + 5 1368 c.1338G>T c.(1336-1338)TGG>TGT p.W446C NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 446 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 TACTGCAGTGGTTTGGTGACC 0.363000 MAB21L1 4081 broad.mit.edu 37 13 36049843 36049843 + Missense_Mutation SNP A A T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr13:36049843A>T uc001uvc.2 - 1 990 c.433T>A c.(433-435)TAC>AAC p.Y145N NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank NM_005584 NP_005575 Q13394 MB211_HUMAN mab-21-like protein 1 145 anatomical structure morphogenesis nucleus ovary(2) 2 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) ACATCCCGGTAGCTACATTTG 0.557000 NKX2-1 7080 broad.mit.edu 37 14 36987124 36987124 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr14:36987124C>T uc001wtt.2 - 2 816 c.475G>A c.(475-477)GCG>ACG p.A159T SFTA3_uc001wts.2_Intron|NKX2-1_uc001wtu.2_Missense_Mutation_p.A189T|NKX2-1_uc001wtv.2_Missense_Mutation_p.A159T|uc001wtw.1_5'Flank NM_003317 NP_003308 P43699 NKX21_HUMAN thyroid transcription factor 1 isoform 2 159 epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development protein binding|transcription regulatory region DNA binding skin(1) 1 all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165) Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132) GBM - Glioblastoma multiforme(112;0.0171) CTGCGCGGCGCGCTTGGCAGC 0.692000 A NSCLC NRXN3 9369 broad.mit.edu 37 14 80164096 80164096 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr14:80164096C>T uc001xun.2 + 15 3112 c.2621C>T c.(2620-2622)GCG>GTG p.A874V NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.A242V|NRXN3_uc010asw.2_Missense_Mutation_p.A272V|NRXN3_uc001xur.3_Missense_Mutation_p.A242V NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 1247 Extracellular (Potential).|Laminin G-like 6. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CTGAACATGGCGGCTGAGAAC 0.478000 SERPINA10 51156 broad.mit.edu 37 14 94754794 94754794 + Missense_Mutation SNP T T G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr14:94754794T>G uc001yct.2 - 3 1287 c.821A>C c.(820-822)AAG>ACG p.K274T SERPINA10_uc001ycu.3_Missense_Mutation_p.K274T NM_016186 NP_057270 Q9UK55 ZPI_HUMAN serine (or cysteine) proteinase inhibitor, clade 274 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) GGAGGCAAACTTGCCTGCACC 0.488000 MKRN3 7681 broad.mit.edu 37 15 23811299 23811299 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr15:23811299C>T uc001ywh.3 + 1 846 c.370C>T c.(370-372)CGG>TGG p.R124W MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.R124W NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 124 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) CCTTTCTGGTCGGAAGATGGC 0.597000 HAUS2 55142 broad.mit.edu 37 15 42855984 42855984 + Missense_Mutation SNP A A G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr15:42855984A>G uc001zqe.2 + 5 487 c.427A>G c.(427-429)ATT>GTT p.I143V HAUS2_uc010udi.1_Missense_Mutation_p.I112V|HAUS2_uc001zqf.2_Missense_Mutation_p.I49V NM_018097 NP_060567 Q9NVX0 HAUS2_HUMAN centrosomal protein 27kDa isoform 1 143 cell division|centrosome organization|G2/M transition of mitotic cell cycle|mitosis|spindle assembly centrosome|cytosol|HAUS complex|microtubule|spindle 0 TGTGACTTTCATTGAGAGATT 0.303000 CDAN1 146059 broad.mit.edu 37 15 43018353 43018353 + Silent SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr15:43018353C>A uc001zql.2 - 25 3327 c.3210G>T c.(3208-3210)CTG>CTT p.L1070L CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Silent_p.L396L NM_138477 NP_612486 Q8IWY9 CDAN1_HUMAN codanin 1 1070 integral to membrane protein binding ovary(2) 2 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) CAGGTGGGCACAGGAACTGCG 0.562000 SERF2 10169 broad.mit.edu 37 15 44085229 44085229 + Missense_Mutation SNP G G C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr15:44085229G>C uc001zsz.3 + 2 162 c.64G>C c.(64-66)GTT>CTT p.V22L ELL3_uc001zsx.1_Intron|SERF2_uc010bdq.2_Missense_Mutation_p.V22L|SERF2_uc010uee.1_5'UTR|C15orf63_uc001ztb.2_5'UTR NM_001018108 NP_001018118 P84101 SERF2_HUMAN small EDRK-rich factor 2 22 cytosol|nucleus 0 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;7.81e-07) GAGCGACTCGGTTAAGGGAAA 0.597000 TNFAIP8L3 388121 broad.mit.edu 37 15 51350609 51350609 + Silent SNP C C T rs140282835 TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr15:51350609C>T uc001zyy.2 - 3 448 c.348G>A c.(346-348)GCG>GCA p.A116A NM_207381 NP_997264 Q5GJ75 TP8L3_HUMAN tumor necrosis factor, alpha-induced protein 116 0 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) GGGCTTGAAGCGCAAGACTCT 0.353000 DMXL2 23312 broad.mit.edu 37 15 51773769 51773769 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr15:51773769C>T uc002abf.2 - 24 5759 c.5534G>A c.(5533-5535)CGA>CAA p.R1845Q DMXL2_uc002abd.2_5'UTR|DMXL2_uc010ufy.1_Missense_Mutation_p.R1845Q|DMXL2_uc010bfa.2_Missense_Mutation_p.R1209Q NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1845 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) AGGATGAGTTCGAAGGTAGTT 0.348000 UNC13C 440279 broad.mit.edu 37 15 54307481 54307481 + Missense_Mutation SNP T T C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr15:54307481T>C uc002ack.2 + 1 2381 c.2381T>C c.(2380-2382)TTC>TCC p.F794S NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 794 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ACTTTCAGCTTCCCAAAATTT 0.443000 MSLNL 401827 broad.mit.edu 37 16 824881 824881 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr16:824881C>T uc002cjz.1 - 7 1691 c.1691G>A c.(1690-1692)CGC>CAC p.R564H NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN mesothelin-like 213 Extracellular (Potential). cell adhesion integral to membrane breast(3)|ovary(1) 4 AAGGGCAATGCGCTGGGCAGC 0.706000 CACNA1H 8912 broad.mit.edu 37 16 1270395 1270395 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr16:1270395C>T uc002cks.2 + 35 6711 c.6463C>T c.(6463-6465)CGG>TGG p.R2155W CACNA1H_uc002ckt.2_Missense_Mutation_p.R2149W|CACNA1H_uc002cku.2_Missense_Mutation_p.R850W|CACNA1H_uc010brj.2_Missense_Mutation_p.R866W|CACNA1H_uc002ckv.2_Missense_Mutation_p.R844W NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 2155 Cytoplasmic (Potential). aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(2) 2 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CGAGCAGTGGCGGCCCTCGGC 0.726000 EARS2 124454 broad.mit.edu 37 16 23546255 23546255 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr16:23546255G>A uc002dlt.3 - 4 944 c.912C>T c.(910-912)CCC>CCT p.P304P EARS2_uc002dlr.3_RNA|EARS2_uc002dls.3_RNA|EARS2_uc002dlu.2_Silent_p.P304P NM_001083614 NP_001077083 Q5JPH6 SYEM_HUMAN glutamyl-tRNA synthetase 2 precursor 304 glutamyl-tRNA aminoacylation mitochondrial matrix ATP binding|glutamate-tRNA ligase activity|RNA binding 0 GBM - Glioblastoma multiforme(48;0.0353) L-Glutamic Acid(DB00142) ACAAGGAATCGGGCAGGAAGC 0.483000 CACNG3 10368 broad.mit.edu 37 16 24372925 24372925 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr16:24372925G>A uc002dmf.2 + 4 1889 c.689G>A c.(688-690)CGA>CAA p.R230Q NM_006539 NP_006530 O60359 CCG3_HUMAN voltage-dependent calcium channel gamma-3 230 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity 0 GBM - Glioblastoma multiforme(48;0.0809) TACAGGTATCGATTCCGGAGG 0.537000 TMEM219 124446 broad.mit.edu 37 16 29982737 29982737 + Silent SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr16:29982737G>T uc002duw.2 + 5 761 c.594G>T c.(592-594)CTG>CTT p.L198L uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TMEM219_uc002duy.2_Silent_p.L198L|TMEM219_uc010bzk.1_Silent_p.L198L|TMEM219_uc002duz.2_Silent_p.L198L|TMEM219_uc010bzl.1_RNA|TAOK2_uc002dva.1_5'Flank|TAOK2_uc002dvb.1_5'Flank|TAOK2_uc002dvc.1_5'Flank NM_194280 NP_919256 Q86XT9 TM219_HUMAN transmembrane protein 219 198 integral to membrane 0 AGGAGGAGCTGGCTCTGTGTG 0.602000 SALL1 6299 broad.mit.edu 37 16 51174933 51174933 + Silent SNP C C T rs79302764 TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr16:51174933C>T uc010vgs.1 - 2 1231 c.1200G>A c.(1198-1200)TCG>TCA p.S400S SALL1_uc010vgr.1_Silent_p.S303S|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 400 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGGGGAAAACCGAGTTAGCGG 0.493000 CDH15 1013 broad.mit.edu 37 16 89254540 89254540 + Silent SNP A A G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr16:89254540A>G uc002fmt.2 + 7 902 c.825A>G c.(823-825)GGA>GGG p.G275G NM_004933 NP_004924 P55291 CAD15_HUMAN cadherin 15 preproprotein 275 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0261) CCGTCAGCGGAGTGGATGTGG 0.662000 XAF1 54739 broad.mit.edu 37 17 6674284 6674284 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr17:6674284C>T uc002gdn.2 + 6 1072 c.830C>T c.(829-831)CCG>CTG p.P277L XAF1_uc002gdm.1_Missense_Mutation_p.P217L|XAF1_uc002gdo.2_Missense_Mutation_p.P258L|XAF1_uc002gdp.2_Missense_Mutation_p.P226L|XAF1_uc002gdq.2_Missense_Mutation_p.P109L|XAF1_uc002gdr.2_Missense_Mutation_p.P207L NM_017523 NP_059993 Q6GPH4 XAF1_HUMAN XIAP associated factor 1 isoform 1 277 apoptosis|type I interferon-mediated signaling pathway mitochondrion|nucleus zinc ion binding 0 CTTCCCCTGCCGATCCTAAAT 0.493000 TP53 7157 broad.mit.edu 37 17 7577082 7577082 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr17:7577082C>T uc002gim.2 - 8 1050 c.856G>A c.(856-858)GAA>AAA p.E286K TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E286K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E154K|TP53_uc010cng.1_Missense_Mutation_p.E154K|TP53_uc002gii.1_Missense_Mutation_p.E154K|TP53_uc010cnh.1_Missense_Mutation_p.E286K|TP53_uc010cni.1_Missense_Mutation_p.E286K|TP53_uc002gij.2_Missense_Mutation_p.E286K NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 286 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> V (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> G (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in LFS; germline mutation and 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E286K(52)|p.E286*(14)|p.E286G(14)|p.0?(7)|p.E286V(6)|p.E286Q(5)|p.?(2)|p.E286D(2)|p.E286E(2)|p.R283fs*16(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.E286A(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.E285_L289delEEENL(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 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) AGATTCTCTTCCTCTGTGCGC 0.557000 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 Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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) SLFN11 91607 broad.mit.edu 37 17 33690124 33690124 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr17:33690124C>T uc010ctp.2 - 4 1145 c.703G>A c.(703-705)GTC>ATC p.V235I SLFN11_uc010ctq.2_Missense_Mutation_p.V235I|SLFN11_uc002hjh.3_Missense_Mutation_p.V235I|SLFN11_uc002hjg.3_Missense_Mutation_p.V235I|SLFN11_uc010ctr.2_Missense_Mutation_p.V235I NM_001104588 NP_001098058 Q7Z7L1 SLN11_HUMAN schlafen family member 11 235 nucleus ATP binding large_intestine(1)|ovary(1)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AATGCAGGGACGTATTCTGGA 0.403000 FZD2 2535 broad.mit.edu 37 17 42636253 42636253 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr17:42636253C>T uc002igx.1 + 1 1329 c.1197C>T c.(1195-1197)AGC>AGT p.S399S NM_001466 NP_001457 Q14332 FZD2_HUMAN frizzled 2 precursor 399 Extracellular (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding ovary(2)|lung(1) 3 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) ACCTGCTGAGCGGCGTGTGCT 0.657000 SP6 80320 broad.mit.edu 37 17 45924989 45924989 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr17:45924989C>T uc002img.1 - 2 1139 c.807G>A c.(805-807)TCG>TCA p.S269S SP6_uc002imh.1_Silent_p.S269S NM_199262 NP_954871 Q3SY56 SP6_HUMAN Sp6 transcription factor 269 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 CCTTCAGGTGCGACGTCTTGG 0.662000 MTMR4 9110 broad.mit.edu 37 17 56589814 56589814 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr17:56589814G>A uc002iwj.2 - 4 257 c.147C>T c.(145-147)GCC>GCT p.A49A MTMR4_uc010dcx.1_Silent_p.A63A NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 49 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity skin(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGAGGGCATCGGCTGCCCGGC 0.527000 TEX14 56155 broad.mit.edu 37 17 56700326 56700326 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr17:56700326C>T uc010dcz.1 - 4 417 c.299G>A c.(298-300)GGC>GAC p.G100D TEX14_uc002iwr.1_Missense_Mutation_p.G100D|TEX14_uc002iws.1_Missense_Mutation_p.G100D|TEX14_uc010dda.1_5'UTR NM_198393 NP_938207 Q8IWB6 TEX14_HUMAN testis expressed sequence 14 isoform a 100 ANK 3. cytoplasm ATP binding|protein kinase activity stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1) 17 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCACTGATTGCCCGAAAATGC 0.547000 C19orf21 126353 broad.mit.edu 37 19 758149 758149 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr19:758149G>A uc002lpo.2 + 2 1286 c.1203G>A c.(1201-1203)CCG>CCA p.P401P NM_173481 NP_775752 Q8IVT2 CS021_HUMAN hypothetical protein LOC126353 401 upper_aerodigestive_tract(1) 1 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCTCAGCCCGGCCCCAGATG 0.701000 REXO1 57455 broad.mit.edu 37 19 1820356 1820356 + Silent SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr19:1820356G>T uc002lua.3 - 6 2528 c.2433C>A c.(2431-2433)GGC>GGA p.G811G REXO1_uc010dsq.2_Silent_p.G120G|REXO1_uc010xgs.1_5'UTR|REXO1_uc010dsp.1_5'Flank|uc002lub.1_5'Flank NM_020695 NP_065746 Q8N1G1 REXO1_HUMAN transcription elongation factor B polypeptide 3 811 nucleus exonuclease activity|nucleic acid binding 0 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGGGACTTTGCCCCCAAACT 0.552000 ZNF57 126295 broad.mit.edu 37 19 2918038 2918038 + Missense_Mutation SNP G G C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr19:2918038G>C uc002lwr.2 + 4 1567 c.1419G>C c.(1417-1419)GAG>GAC p.E473D ZNF57_uc010xha.1_Missense_Mutation_p.E441D NM_173480 NP_775751 Q68EA5 ZNF57_HUMAN zinc finger protein 57 473 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) ACACTGGAGAGAAGCCTTATG 0.443000 INSR 3643 broad.mit.edu 37 19 7132175 7132175 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr19:7132175C>T uc002mgd.1 - 14 2945 c.2836G>A c.(2836-2838)GAC>AAC p.D946N INSR_uc002mge.1_Missense_Mutation_p.D934N NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 946 Fibronectin type-III 3.|Extracellular (Potential). activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTACAATAGTCTGTCACGTAG 0.602000 MUC16 94025 broad.mit.edu 37 19 9071717 9071717 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr19:9071717C>T uc002mkp.2 - 3 15933 c.15729G>A c.(15727-15729)GTG>GTA p.V5243V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5245 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGTCAGGTGGCACTGTGGACT 0.488000 ZNF443 10224 broad.mit.edu 37 19 12542658 12542658 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr19:12542658C>T uc002mtu.2 - 4 526 c.328G>A c.(328-330)GAA>AAA p.E110K NM_005815 NP_005806 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 110 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 ATGACTTTTTCTCCTCTCATA 0.433000 NDUFB7 4713 broad.mit.edu 37 19 14677059 14677059 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr19:14677059C>T uc002mzg.2 - 3 374 c.300G>A c.(298-300)AAG>AAA p.K100K NM_004146 NP_004137 P17568 NDUB7_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 100 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity ovary(1) 1 NADH(DB00157) GCTCAAACTCCTTCATGCGCA 0.672000 ZNF675 171392 broad.mit.edu 37 19 23836362 23836362 + Missense_Mutation SNP C C T rs150723446 TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr19:23836362C>T uc002nri.2 - 4 1555 c.1373G>A c.(1372-1374)GGC>GAC p.G458D NM_138330 NP_612203 Q8TD23 ZN675_HUMAN zinc finger protein 675 458 C2H2-type 12. bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(1)|kidney(1) 2 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) AAAAGCTTTGCCACATTCTTC 0.353000 WTIP 126374 broad.mit.edu 37 19 34991055 34991055 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr19:34991055G>A uc002nvm.2 + 8 1174 c.1174G>A c.(1174-1176)GGG>AGG p.G392R NM_001080436 NP_001073905 Wilms tumor 1 interacting protein 0 all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) GCAGCTGAGCGGGGAGGAGGG 0.672000 ZNF599 148103 broad.mit.edu 37 19 35250996 35250996 + Missense_Mutation SNP C C T rs149040820 byFrequency TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr19:35250996C>T uc010edn.1 - 4 1098 c.710G>A c.(709-711)CGT>CAT p.R237H ZNF599_uc010edm.1_Missense_Mutation_p.R200H NM_001007248 NP_001007249 Q96NL3 ZN599_HUMAN zinc finger protein 599 237 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) AGCCATATAACGACAGGCTTT 0.473000 ARHGAP33 115703 broad.mit.edu 37 19 36276129 36276129 + Missense_Mutation SNP G G C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr19:36276129G>C uc002obr.1 + 18 1845 c.1760G>C c.(1759-1761)GGG>GCG p.G587A ARHGAP33_uc002obs.1_Missense_Mutation_p.G587A|ARHGAP33_uc002obt.1_Missense_Mutation_p.G451A|ARHGAP33_uc010eel.2_Missense_Mutation_p.G175A|ARHGAP33_uc002obv.1_Missense_Mutation_p.G175A NM_052948 NP_443180 O14559 RHG33_HUMAN sorting nexin 26 587 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding skin(2)|ovary(1)|pancreas(1) 4 CGGAAGCCAGGGGGCAGCAGC 0.687000 ZNF570 148268 broad.mit.edu 37 19 37975729 37975729 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr19:37975729C>A uc002ogk.1 + 5 1734 c.1205C>A c.(1204-1206)GCT>GAT p.A402D ZNF570_uc010efl.1_Missense_Mutation_p.A458D|ZNF570_uc010xtr.1_Missense_Mutation_p.A199D NM_144694 NP_653295 Q96NI8 ZN570_HUMAN zinc finger protein 570 402 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCACACCTTGCTCAACATCAG 0.423000 GRLF1 2909 broad.mit.edu 37 19 47422058 47422058 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr19:47422058C>T uc010ekv.2 + 1 126 c.126C>T c.(124-126)TTC>TTT p.F42F NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 42 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) GCAACCGCTTCGTGCGCCCGA 0.522000 PEG3 5178 broad.mit.edu 37 19 57326846 57326846 + Missense_Mutation SNP C C A rs145274958 byFrequency TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr19:57326846C>A uc002qnu.2 - 7 3315 c.2964G>T c.(2962-2964)CAG>CAT p.Q988H ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.Q959H|PEG3_uc002qnv.2_Missense_Mutation_p.Q988H|PEG3_uc002qnw.2_Missense_Mutation_p.Q864H|PEG3_uc002qnx.2_Missense_Mutation_p.Q862H|PEG3_uc010etr.2_Missense_Mutation_p.Q988H NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 988 C2H2-type 5. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CATGAATCTTCTGGTGCTCAG 0.502000 ZNF749 388567 broad.mit.edu 37 19 57955724 57955724 + Missense_Mutation SNP T T A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr19:57955724T>A uc002qoq.2 + 3 1462 c.1208T>A c.(1207-1209)GTT>GAT p.V403D ZNF547_uc002qpm.3_Intron NM_001023561 NP_001018855 O43361 ZN749_HUMAN zinc finger protein 749 403 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) CACCAGAGAGTTCATGCTGGC 0.423000 COLEC11 78989 broad.mit.edu 37 2 3691470 3691470 + Missense_Mutation SNP T T A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr2:3691470T>A uc002qya.2 + 7 726 c.578T>A c.(577-579)CTG>CAG p.L193Q COLEC11_uc002qxz.2_Missense_Mutation_p.L190Q|COLEC11_uc002qyb.2_Missense_Mutation_p.L169Q|COLEC11_uc002qyc.2_Missense_Mutation_p.L169Q|COLEC11_uc010ewo.2_Missense_Mutation_p.L145Q|COLEC11_uc010ewp.2_Missense_Mutation_p.L167Q|COLEC11_uc010ewq.2_Missense_Mutation_p.L143Q|COLEC11_uc010ewr.2_Missense_Mutation_p.L143Q|COLEC11_uc010ews.2_Missense_Mutation_p.L119Q NM_024027 NP_076932 Q9BWP8 COL11_HUMAN collectin sub-family member 11 isoform a 193 C-type lectin. collagen mannose binding 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) GCCGCATACCTGGCGCAAGCC 0.667000 CCDC85A 114800 broad.mit.edu 37 2 56419955 56419955 + Missense_Mutation SNP T T A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr2:56419955T>A uc002rzn.2 + 2 1122 c.620T>A c.(619-621)GTG>GAG p.V207E NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 207 breast(3)|ovary(2) 5 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GTGCGGGATGTGGGTGACGGC 0.682000 SLC35F5 80255 broad.mit.edu 37 2 114500332 114500332 + Silent SNP C C G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr2:114500332C>G uc002tku.1 - 7 1111 c.687G>C c.(685-687)CTG>CTC p.L229L SLC35F5_uc002tkt.2_RNA|SLC35F5_uc002tkv.2_Silent_p.L223L|SLC35F5_uc002tkw.2_Silent_p.L229L NM_025181 NP_079457 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 229 transport integral to membrane 0 CCACAGTTTTCAGTATGGATT 0.373000 ACTR3 10096 broad.mit.edu 37 2 114699799 114699799 + Nonsense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr2:114699799G>T uc002tkx.1 + 8 1041 c.721G>T c.(721-723)GAA>TAA p.E241* ACTR3_uc010yyc.1_Nonsense_Mutation_p.E179*|ACTR3_uc010yyd.1_Nonsense_Mutation_p.E190* NM_005721 NP_005712 P61158 ARP3_HUMAN ARP3 actin-related protein 3 homolog 241 cellular component movement|cilium morphogenesis Arp2/3 protein complex actin binding|ATP binding skin(1) 1 TTTAGTAAAAGAATTTAACAA 0.318000 ERCC3 2071 broad.mit.edu 37 2 128044384 128044384 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr2:128044384G>T uc002toh.1 - 8 1332 c.1237C>A c.(1237-1239)CTG>ATG p.L413M ERCC3_uc002toe.1_Missense_Mutation_p.L168M|ERCC3_uc002tof.1_Missense_Mutation_p.L349M|ERCC3_uc002tog.1_Missense_Mutation_p.L349M|ERCC3_uc010flx.1_Missense_Mutation_p.L168M NM_000122 NP_000113 P19447 ERCC3_HUMAN excision repair cross-complementing rodent 413 Helicase ATP-binding. cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding ovary(2)|lung(2)|breast(2)|kidney(1) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) GTGTGGCCCAGCATGGAGTAG 0.592000 Mis|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum TBR1 10716 broad.mit.edu 37 2 162274729 162274729 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr2:162274729C>A uc002ubw.1 + 3 1167 c.865C>A c.(865-867)CAT>AAT p.H289N TBR1_uc010foy.2_Missense_Mutation_p.H2N NM_006593 NP_006584 Q16650 TBR1_HUMAN T-box, brain, 1 289 T-box. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 GGTCTATATGCATCCGGATTC 0.428000 XIRP2 129446 broad.mit.edu 37 2 168104063 168104063 + Missense_Mutation SNP A A C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr2:168104063A>C uc002udx.2 + 8 6179 c.6161A>C c.(6160-6162)AAT>ACT p.N2054T XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.N1879T|XIRP2_uc010fpq.2_Missense_Mutation_p.N1832T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1879 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CATAAATCTAATGTTTTGGAA 0.393000 KBTBD10 10324 broad.mit.edu 37 2 170366712 170366712 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr2:170366712G>A uc002ueu.1 + 1 501 c.424G>A c.(424-426)GGA>AGA p.G142R KBTBD10_uc010zdh.1_Intron NM_006063 NP_006054 O60662 KBTBA_HUMAN kelch repeat and BTB (POZ) domain containing 10 142 striated muscle contraction centrosome|nucleolus|plasma membrane|pseudopodium|ruffle 0 CCTAAGATTAGGACTTCTTCT 0.458000 SF3B1 23451 broad.mit.edu 37 2 198263275 198263275 + Missense_Mutation SNP T T C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr2:198263275T>C uc002uue.2 - 21 3092 c.3044A>G c.(3043-3045)GAT>GGT p.D1015G NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 1015 HEAT 8. nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) AGGCAGCAGATCTTTAATTGG 0.353000 TMEM169 92691 broad.mit.edu 37 2 216964986 216964986 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr2:216964986G>A uc010zjr.1 + 4 941 c.615G>A c.(613-615)TCG>TCA p.S205S TMEM169_uc010zjs.1_Silent_p.S205S|TMEM169_uc002vfw.2_Silent_p.S205S|TMEM169_uc002vfv.3_Silent_p.S205S NM_001142310 NP_001135782 Q96HH4 TM169_HUMAN transmembrane protein 169 205 Cytoplasmic (Potential). integral to membrane ovary(1) 1 Renal(323;0.0651) Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACAAGATCTCGTATTGCCCTT 0.507000 COL4A4 1286 broad.mit.edu 37 2 227886829 227886829 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr2:227886829G>A uc010zlt.1 - 43 4805 c.4151C>T c.(4150-4152)GCG>GTG p.A1384V NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 1384 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CATGCCTGGCGCCCCAGGAAG 0.567000 COL6A3 1293 broad.mit.edu 37 2 238287440 238287440 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr2:238287440C>A uc002vwl.2 - 6 2621 c.2336G>T c.(2335-2337)AGC>ATC p.S779I COL6A3_uc002vwo.2_Missense_Mutation_p.S573I|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Missense_Mutation_p.S573I|COL6A3_uc002vwr.2_Missense_Mutation_p.S372I|COL6A3_uc010znk.1_Intron NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 779 VWFA 4.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ATTCGCCTGGCTAGCTCCCAC 0.547000 SIRPB1 10326 broad.mit.edu 37 20 1558984 1558984 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr20:1558984C>T uc010gai.2 - 2 532 c.433G>A c.(433-435)GCC>ACC p.A145T SIRPB1_uc002wfk.3_Missense_Mutation_p.E145K NM_006065 NP_006056 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 isoform 1 145 Extracellular (Potential). cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding ovary(1) 1 CTGTACTCACCGCGCACAGAC 0.552000 PTPRT 11122 broad.mit.edu 37 20 41101196 41101196 + Missense_Mutation SNP A A C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr20:41101196A>C uc002xkg.2 - 8 1344 c.1160T>G c.(1159-1161)GTA>GGA p.V387G PTPRT_uc010ggj.2_Missense_Mutation_p.V387G NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 387 Extracellular (Potential).|Fibronectin type-III 2. 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 skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TGGGCCATGTACCGGATCTGC 0.547000 SLC12A5 57468 broad.mit.edu 37 20 44665965 44665965 + Missense_Mutation SNP T T A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr20:44665965T>A uc010zxl.1 + 6 698 c.622T>A c.(622-624)TAC>AAC p.Y208N SLC12A5_uc002xra.2_Missense_Mutation_p.Y185N|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.Y185N NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 208 Helical; (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CCTCTGCTTCTACCTGGGCAC 0.572000 RAB22A 57403 broad.mit.edu 37 20 56886153 56886153 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr20:56886153G>T uc002xyz.2 + 2 353 c.91G>T c.(91-93)GAT>TAT p.D31Y NM_020673 NP_065724 Q9UL26 RB22A_HUMAN RAS-related protein RAB-22A 31 endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction early endosome|endosome membrane|plasma membrane GTP binding|GTPase activity|protein binding 0 all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042) BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07) AGACAGTTTTGATCCAAACAT 0.388000 TPTE 7179 broad.mit.edu 37 21 10941929 10941929 + Silent SNP A A C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr21:10941929A>C uc002yip.1 - 14 1142 c.774T>G c.(772-774)TCT>TCG p.S258S TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Silent_p.S240S|TPTE_uc002yir.1_Silent_p.S220S|TPTE_uc010gkv.1_Silent_p.S120S NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 258 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTCTATAGAAAGACTGCCTTC 0.313000 TPTE 7179 broad.mit.edu 37 21 10941963 10941963 + Missense_Mutation SNP A A C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr21:10941963A>C uc002yip.1 - 14 1108 c.740T>G c.(739-741)ATT>AGT p.I247S TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.I229S|TPTE_uc002yir.1_Missense_Mutation_p.I209S|TPTE_uc010gkv.1_Missense_Mutation_p.I109S NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 247 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGACATAGCAATAATACGTTC 0.284000 COL6A2 1292 broad.mit.edu 37 21 47545973 47545973 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr21:47545973C>T uc002zia.1 + 26 2326 c.2244C>T c.(2242-2244)TGC>TGT p.C748C COL6A2_uc002zhy.1_Silent_p.C748C|COL6A2_uc002zhz.1_Silent_p.C748C|COL6A2_uc002zib.1_Silent_p.C154C|COL6A2_uc002zic.1_5'Flank NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 748 VWFA 2.|Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) GGGCGCTGTGCGACCGCGACG 0.627000 COL6A2 1292 broad.mit.edu 37 21 47552310 47552310 + Silent SNP C C T rs143569686 TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr21:47552310C>T uc002zia.1 + 28 2986 c.2904C>T c.(2902-2904)AAC>AAT p.N968N COL6A2_uc002zib.1_Silent_p.N374N|COL6A2_uc002zic.1_Missense_Mutation_p.T43M|COL6A2_uc010gqe.1_RNA NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 968 Nonhelical region.|VWFA 3. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) GCAAGCAGAACGTGGTACCCA 0.667000 FAM83F 113828 broad.mit.edu 37 22 40417654 40417654 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr22:40417654G>A uc003ayk.1 + 4 1234 c.1140G>A c.(1138-1140)ACG>ACA p.T380T NM_138435 NP_612444 Q8NEG4 FA83F_HUMAN hypothetical protein LOC113828 380 breast(1) 1 ACCTGGTTACGGTGGAGCAGG 0.672000 TBC1D22A 25771 broad.mit.edu 37 22 47274558 47274558 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr22:47274558G>A uc003bib.2 + 5 782 c.647G>A c.(646-648)CGG>CAG p.R216Q TBC1D22A_uc010haf.2_Missense_Mutation_p.R186Q|TBC1D22A_uc003bic.2_Missense_Mutation_p.R157Q|TBC1D22A_uc003bie.2_Missense_Mutation_p.R138Q|TBC1D22A_uc003bid.2_Intron|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.R169Q NM_014346 NP_055161 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 216 intracellular protein homodimerization activity|Rab GTPase activator activity ovary(1) 1 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) GAGGAATTACGGAGGTTGAGC 0.488000 GRM7 2917 broad.mit.edu 37 3 7456772 7456772 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr3:7456772G>A uc003bqm.2 + 5 1370 c.1096G>A c.(1096-1098)GAA>AAA p.E366K GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.E366K|GRM7_uc003bql.2_Missense_Mutation_p.E366K|GRM7_uc003bqn.1_5'UTR NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 366 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) ATGGTTTGCCGAATACTGGGA 0.408000 WDR6 11180 broad.mit.edu 37 3 49049539 49049539 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr3:49049539C>T uc003cvj.2 + 2 800 c.662C>T c.(661-663)ACT>ATT p.T221I WDR6_uc011bbx.1_Missense_Mutation_p.T92I|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.T165I|WDR6_uc011bbz.1_Missense_Mutation_p.T140I NM_018031 NP_060501 Q9NNW5 WDR6_HUMAN WD repeat domain 6 protein 191 WD 2. cell cycle arrest|negative regulation of cell proliferation cytoplasm central_nervous_system(1) 1 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) TACCCAGCAACTGCCTTAGCA 0.542000 GRM2 2912 broad.mit.edu 37 3 51749890 51749890 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr3:51749890G>A uc010hlv.2 + 4 2340 c.2101G>A c.(2101-2103)GAG>AAG p.E701K GRM2_uc003dbo.3_Missense_Mutation_p.E83K|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 701 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) GCTGGTGGTGGAGGCACCGGG 0.657000 TLR9 54106 broad.mit.edu 37 3 52257833 52257833 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr3:52257833G>T uc003dda.1 - 2 1133 c.499C>A c.(499-501)CAT>AAT p.H167N TLR9_uc003ddb.2_Missense_Mutation_p.H264N NM_017442 NP_059138 Q9NR96 TLR9_HUMAN toll-like receptor 9 isoform A precursor 167 LRR 5.|Extracellular (Potential). defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|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-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity large_intestine(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) CGCAGGGCATGCAGGCCGGCG 0.597000 CNTN3 5067 broad.mit.edu 37 3 74344358 74344358 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr3:74344358C>A uc003dpm.1 - 18 2511 c.2431G>T c.(2431-2433)GCA>TCA p.A811S NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 811 Fibronectin type-III 3. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) AGGCTATTTGCAGAGACTTGA 0.383000 IMPG2 50939 broad.mit.edu 37 3 100972610 100972610 + Missense_Mutation SNP C C T rs139255481 byFrequency TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr3:100972610C>T uc003duq.1 - 11 1372 c.1169G>A c.(1168-1170)CGT>CAT p.R390H IMPG2_uc011bhe.1_Missense_Mutation_p.R253H NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 390 Extracellular (Potential). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 AGTTTGGTGACGCAAAACTCC 0.393000 ZIC1 7545 broad.mit.edu 37 3 147128842 147128842 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr3:147128842C>T uc003ewe.2 + 1 1662 c.943C>T c.(943-945)CGC>TGC p.R315C NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 315 C2H2-type 3. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GGTCTTCGCGCGCTCCGAGAA 0.562000 KCNMB2 10242 broad.mit.edu 37 3 178560462 178560462 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr3:178560462G>A uc003fjd.2 + 5 788 c.445G>A c.(445-447)GGA>AGA p.G149R uc003fjb.1_Intron|uc003fjc.1_Intron|KCNMB2_uc003fje.2_Missense_Mutation_p.G149R|KCNMB2_uc003fjf.2_Missense_Mutation_p.G149R|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_RNA NM_181361 NP_852006 Q9Y691 KCMB2_HUMAN calcium-activated potassium channel beta 2 149 Extracellular (Potential). detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction voltage-gated potassium channel complex calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(1) 1 all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125) OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841) ACCTAAATGTGGAAAAAATTT 0.403000 ABCC5 10057 broad.mit.edu 37 3 183660618 183660618 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr3:183660618G>A uc003fmg.2 - 25 3756 c.3591C>T c.(3589-3591)AAC>AAT p.N1197N ABCC5_uc011bqt.1_Silent_p.N725N|ABCC5_uc010hxl.2_Silent_p.N1154N NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 1197 ABC transporter 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TCATCTCTGCGTTCTCAAAGG 0.527000 MAP3K13 9175 broad.mit.edu 37 3 185195129 185195129 + Missense_Mutation SNP T T A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr3:185195129T>A uc010hyf.2 + 13 2712 c.2446T>A c.(2446-2448)TCA>ACA p.S816T MAP3K13_uc011brt.1_Missense_Mutation_p.S609T|MAP3K13_uc011bru.1_Missense_Mutation_p.S672T|MAP3K13_uc003fpi.2_Missense_Mutation_p.S816T|MAP3K13_uc010hyg.2_Missense_Mutation_p.S506T NM_004721 NP_004712 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 816 Acidic. activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding ovary(2)|skin(1) 3 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AGATGACTCCTCAGAAGAGGA 0.408000 MUC4 4585 broad.mit.edu 37 3 195492218 195492218 + Missense_Mutation SNP C C G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr3:195492218C>G uc011bto.1 - 10 13797 c.13337G>C c.(13336-13338)TGG>TCG p.W4446S MUC4_uc003fuz.2_Missense_Mutation_p.W172S|MUC4_uc003fva.2_Missense_Mutation_p.W54S|MUC4_uc003fvb.2_Missense_Mutation_p.W90S|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.W90S|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.W54S|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.W138S|MUC4_uc011bti.1_Missense_Mutation_p.W138S|MUC4_uc011btj.1_Missense_Mutation_p.W315S|MUC4_uc011btk.1_Missense_Mutation_p.W54S|MUC4_uc011btl.1_Missense_Mutation_p.W83S|MUC4_uc011btm.1_Missense_Mutation_p.W263S|MUC4_uc011btn.1_Missense_Mutation_p.W54S|MUC4_uc003fvo.2_Missense_Mutation_p.W338S|MUC4_uc003fvp.2_Missense_Mutation_p.W287S|MUC4_uc010hzu.1_Missense_Mutation_p.W1186S NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 1331 AMOP. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GTTCCAGCCCCAGCTGGGCCA 0.632000 HTT 3064 broad.mit.edu 37 4 3240697 3240697 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr4:3240697C>T uc011bvq.1 + 67 9358 c.9213C>T c.(9211-9213)GTC>GTT p.V3071V NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 3069 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GCCCGTGGGTCGCGGCGATGT 0.592000 GABRB1 2560 broad.mit.edu 37 4 47405587 47405587 + Nonsense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr4:47405587C>T uc003gxh.2 + 7 1068 c.694C>T c.(694-696)CGA>TGA p.R232* GABRB1_uc011bze.1_Nonsense_Mutation_p.R162* NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 232 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AGCGTATCCACGACTGTCACT 0.403000 FAT4 79633 broad.mit.edu 37 4 126237908 126237908 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr4:126237908G>A uc003ifj.3 + 1 342 c.342G>A c.(340-342)GCG>GCA p.A114A NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 114 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TTTCCAGCGCGCCCACCTACC 0.607000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ELF2 1998 broad.mit.edu 37 4 139994712 139994712 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr4:139994712G>A uc003ihp.1 - 4 454 c.248C>T c.(247-249)TCA>TTA p.S83L ELF2_uc003ihm.1_Missense_Mutation_p.S23L|ELF2_uc003ihn.1_Missense_Mutation_p.S23L|ELF2_uc003iho.1_Missense_Mutation_p.S23L|ELF2_uc010ioh.2_Missense_Mutation_p.S23L NM_201999 NP_973728 Q15723 ELF2_HUMAN E74-like factor 2 (ets domain transcription 83 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 all_hematologic(180;0.162) GCTGTGAACTGATGCTTCCAC 0.363000 RBM46 166863 broad.mit.edu 37 4 155719267 155719267 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr4:155719267G>T uc003ioo.2 + 3 629 c.456G>T c.(454-456)AAG>AAT p.K152N RBM46_uc011cim.1_Missense_Mutation_p.K152N|RBM46_uc003iop.1_Missense_Mutation_p.K152N NM_144979 NP_659416 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 152 RRM 2. nucleotide binding|RNA binding central_nervous_system(1)|skin(1) 2 all_hematologic(180;0.24) Renal(120;0.0854) CCAAGGAAAAGAAGAAAGAAG 0.328000 FSTL5 56884 broad.mit.edu 37 4 162307121 162307121 + Silent SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr4:162307121C>A uc003iqh.2 - 16 2758 c.2322G>T c.(2320-2322)GGG>GGT p.G774G FSTL5_uc003iqi.2_Silent_p.G773G|FSTL5_uc010iqv.2_Silent_p.G764G|uc010iqu.1_RNA NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 774 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TCTTGACCTTCCCAGAAGAGA 0.458000 TMEM192 201931 broad.mit.edu 37 4 166021837 166021837 + Silent SNP A A G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr4:166021837A>G uc003iqz.3 - 3 481 c.382T>C c.(382-384)TTG>CTG p.L128L NM_001100389 NP_001093859 Q8IY95 TM192_HUMAN transmembrane protein 192 128 Cytoplasmic (Potential). Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus skin(1) 1 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0926) CGGTAGATCAAGTTATAGCCT 0.423000 FAT1 2195 broad.mit.edu 37 4 187541092 187541092 + Nonsense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr4:187541092G>T uc003izf.2 - 10 6836 c.6648C>A c.(6646-6648)TAC>TAA p.Y2216* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2216 Extracellular (Potential).|Cadherin 20. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CTGTGATGCTGTAGAACACTT 0.507000 HNSCC(5;0.00058) CDH18 1016 broad.mit.edu 37 5 19838884 19838884 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr5:19838884G>A uc003jgc.2 - 2 589 c.212C>T c.(211-213)CCT>CTT p.P71L CDH18_uc003jgd.2_Missense_Mutation_p.P71L|CDH18_uc011cnm.1_Missense_Mutation_p.P71L NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 71 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) AACATACTGAGGATCTGGTCC 0.383000 ATG10 83734 broad.mit.edu 37 5 81474361 81474361 + Nonsense_Mutation SNP T T A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr5:81474361T>A uc003khs.2 + 6 837 c.408T>A c.(406-408)TAT>TAA p.Y136* ATG10_uc003khr.2_Nonsense_Mutation_p.Y136*|ATG10_uc010jas.2_Nonsense_Mutation_p.Y100* NM_001131028 NP_001124500 Q9H0Y0 ATG10_HUMAN APG10 autophagy 10-like 136 autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport cytoplasm Atg12 ligase activity|protein binding 0 Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30) ATGAGTGCTATAAGATGCGAC 0.378000 VCAN 1462 broad.mit.edu 37 5 82835937 82835937 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr5:82835937G>T uc003kii.3 + 8 7471 c.7115G>T c.(7114-7116)AGT>ATT p.S2372I VCAN_uc003kij.3_Missense_Mutation_p.S1385I|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.S1036I NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2372 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ATCCAGACTAGTAGACCACAA 0.458000 VCAN 1462 broad.mit.edu 37 5 82837419 82837419 + Missense_Mutation SNP A A T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr5:82837419A>T uc003kii.3 + 8 8953 c.8597A>T c.(8596-8598)AAG>ATG p.K2866M VCAN_uc003kij.3_Missense_Mutation_p.K1879M|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.K1530M NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2866 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GATTCTTTTAAGGAAATTCAT 0.453000 TTC37 9652 broad.mit.edu 37 5 94857966 94857966 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr5:94857966C>A uc003klb.2 - 19 2073 c.1803G>T c.(1801-1803)TGG>TGT p.W601C TTC37_uc010jbf.1_Missense_Mutation_p.W553C NM_014639 NP_055454 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 601 TPR 10. binding ovary(3)|pancreas(1) 4 CTAACGATTCCCAACAATTGA 0.408000 TRIM36 55521 broad.mit.edu 37 5 114473223 114473223 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr5:114473223C>T uc003kqs.2 - 6 1467 c.958G>A c.(958-960)GCA>ACA p.A320T TRIM36_uc011cwc.1_Missense_Mutation_p.A308T|TRIM36_uc003kqt.2_Missense_Mutation_p.A165T NM_018700 NP_061170 Q9NQ86 TRI36_HUMAN tripartite motif-containing 36 isoform 1 320 Potential. acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding ovary(4)|lung(2)|breast(2) 8 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) GAGTCAATTGCTTTCAAAACA 0.368000 TIFAB 497189 broad.mit.edu 37 5 134785360 134785360 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr5:134785360C>T uc003law.3 - 2 471 c.270G>A c.(268-270)ACG>ACA p.T90T C5orf20_uc003lav.2_5'Flank NM_001099221 NP_001092691 Q6ZNK6 TIFAB_HUMAN TIFA-related protein TIFAB 90 FHA. 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGTACCTCAGCGTCAGCCCAT 0.622000 PCDHA11 56138 broad.mit.edu 37 5 140249772 140249772 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr5:140249772G>A uc003lia.2 + 1 1942 c.1084G>A c.(1084-1086)GCT>ACT p.A362T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.A362T NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 362 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGAGAGGACGCTCAGCCCAG 0.572000 PCDHA11 56138 broad.mit.edu 37 5 140249918 140249918 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr5:140249918C>T uc003lia.2 + 1 2088 c.1230C>T c.(1228-1230)AGC>AGT p.S410S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.S410S NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 410 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTGGACAGCGCCCTGGACC 0.617000 PCDHGA2 56113 broad.mit.edu 37 5 140720422 140720422 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr5:140720422G>A uc003ljk.1 + 1 2069 c.1884G>A c.(1882-1884)ACG>ACA p.T628T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.T628T NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 628 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTGCGCACGGCGCGAGCCC 0.682000 PCDHGA12 26025 broad.mit.edu 37 5 140811189 140811189 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr5:140811189C>T uc003lkt.1 + 1 1032 c.863C>T c.(862-864)GCG>GTG p.A288V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.A288V NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 288 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACGACAAGGCGGCCCAAGTT 0.512000 SH3TC2 79628 broad.mit.edu 37 5 148411175 148411175 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr5:148411175C>A uc003lpu.2 - 9 1229 c.1077G>T c.(1075-1077)GAG>GAT p.E359D SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_5'UTR|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.E352D|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.E244D NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 359 binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCTGGAACACTCAGTCTGCT 0.537000 GRIA1 2890 broad.mit.edu 37 5 152870498 152870498 + Missense_Mutation SNP T T C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr5:152870498T>C uc003lva.3 + 1 415 c.50T>C c.(49-51)GTA>GCA p.V17A GRIA1_uc003luy.3_Missense_Mutation_p.V17A|GRIA1_uc003luz.3_5'UTR|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.V17A|GRIA1_uc011dcx.1_5'Flank|GRIA1_uc011dcy.1_5'Flank|GRIA1_uc011dcz.1_5'Flank|GRIA1_uc010jia.1_Intron NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 17 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GGCGCGGTAGTAGGTGCCAAT 0.512000 EBF1 1879 broad.mit.edu 37 5 158223440 158223440 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr5:158223440C>T uc010jip.2 - 9 1124 c.822G>A c.(820-822)ACG>ACA p.T274T EBF1_uc011ddw.1_Silent_p.T142T|EBF1_uc011ddx.1_Silent_p.T275T|EBF1_uc003lxl.3_Silent_p.T243T NM_024007 NP_076870 Q9UH73 COE1_HUMAN early B-cell factor 274 IPT/TIG. multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CACCTCCCGTCGTCCATCCTT 0.468000 T HMGA2 lipoma GABRA1 2554 broad.mit.edu 37 5 161324161 161324161 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr5:161324161C>T uc010jiw.2 + 11 1572 c.1104C>T c.(1102-1104)TAC>TAT p.Y368Y GABRA1_uc010jix.2_Silent_p.Y368Y|GABRA1_uc010jiy.2_Silent_p.Y368Y|GABRA1_uc003lyx.3_Silent_p.Y368Y|GABRA1_uc010jiz.2_Silent_p.Y368Y|GABRA1_uc010jja.2_Silent_p.Y368Y|GABRA1_uc010jjb.2_Silent_p.Y368Y NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 368 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) ACAACACTTACGCTCCAACAG 0.423000 RREB1 6239 broad.mit.edu 37 6 7182219 7182219 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr6:7182219G>A uc003mxc.2 + 4 465 c.75G>A c.(73-75)ATG>ATA p.M25I RREB1_uc010jnw.2_Missense_Mutation_p.M25I|RREB1_uc003mxb.2_Missense_Mutation_p.M25I|RREB1_uc010jnx.2_Missense_Mutation_p.M25I|RREB1_uc003mxd.2_Missense_Mutation_p.M25I NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 25 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CGGCGGTCATGAGTGTAGGGA 0.547000 ZNF192 7745 broad.mit.edu 37 6 28121579 28121579 + Silent SNP A A G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr6:28121579A>G uc003nkn.1 + 6 1705 c.1521A>G c.(1519-1521)GAA>GAG p.E507E ZNF192_uc010jqx.1_Silent_p.E507E|ZNF192_uc010jqy.1_Silent_p.E320E|ZNF192_uc011dkz.1_Silent_p.E320E NM_006298 NP_006289 Q15776 ZN192_HUMAN zinc finger protein 192 507 C2H2-type 7. viral reproduction cytoplasm|nucleolus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GCCTTATTGAACATCAGAGAA 0.453000 OR12D2 26529 broad.mit.edu 37 6 29365024 29365024 + Missense_Mutation SNP T T C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr6:29365024T>C uc003nmf.3 + 1 609 c.548T>C c.(547-549)CTA>CCA p.L183P NM_013936 NP_039224 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, 183 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AAGCCATTGCTAAAGCTGGCC 0.478000 GPSM3 63940 broad.mit.edu 37 6 32159232 32159232 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr6:32159232C>T uc003oay.3 - 4 787 c.394G>A c.(394-396)GGG>AGG p.G132R PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.2_5'Flank|GPSM3_uc003oax.3_Missense_Mutation_p.G109R|GPSM3_uc003oaz.2_Missense_Mutation_p.G132R NM_022107 NP_071390 Q9Y4H4 GPSM3_HUMAN G-protein signaling modulator 3 (AGS3-like, C. 132 GoLoco 3. signal transduction cytoplasm GTPase activator activity|protein binding 0 AGCTCTTGCCCCCCTGGAGGG 0.647000 KIFC1 3833 broad.mit.edu 37 6 33374045 33374045 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr6:33374045C>T uc003oef.3 + 8 2059 c.1609C>T c.(1609-1611)CGC>TGC p.R537C KIFC1_uc011drf.1_Missense_Mutation_p.R529C NM_002263 NP_002254 Q9BW19 KIFC1_HUMAN kinesin family member C1 537 Kinesin-motor. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity 0 ACGGTCATCACGCAGCCACAG 0.627000 DNAH8 1769 broad.mit.edu 37 6 38899592 38899592 + Silent SNP A A G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr6:38899592A>G uc003ooe.1 + 74 11229 c.10629A>G c.(10627-10629)AAA>AAG p.K3543K DNAH8_uc003oog.1_5'UTR|uc003oof.1_Intron NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TGTAGGTGAAAGTCGGTGATA 0.214000 DAAM2 23500 broad.mit.edu 37 6 39869752 39869752 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr6:39869752G>A uc003oow.2 + 25 3302 c.3146G>A c.(3145-3147)CGA>CAA p.R1049Q DAAM2_uc003oox.2_Missense_Mutation_p.R1048Q NM_015345 NP_056160 Q86T65 DAAM2_HUMAN dishevelled associated activator of 1049 actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2)|skin(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) AGCCGCAAGCGATCAGGGAGC 0.607000 PEX6 5190 broad.mit.edu 37 6 42941748 42941748 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr6:42941748G>A uc003otf.2 - 3 1216 c.1123C>T c.(1123-1125)CTG>TTG p.L375L PEX6_uc010jya.2_RNA NM_000287 NP_000278 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 375 protein import into peroxisome matrix, translocation|protein stabilization cytosol|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1) 1 all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562) TACCTGGGCAGTTTCTCTGGA 0.512000 ORC3L 23595 broad.mit.edu 37 6 88376828 88376828 + Nonsense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr6:88376828G>A uc003pmh.2 + 20 2167 c.2123G>A c.(2122-2124)TGG>TAG p.W708* ORC3L_uc003pmg.2_Nonsense_Mutation_p.W709*|ORC3L_uc003pmi.2_Nonsense_Mutation_p.W671*|ORC3L_uc011dzo.1_Nonsense_Mutation_p.W565*|ORC3L_uc011dzp.1_Nonsense_Mutation_p.W565*|ORC3L_uc003pmj.1_RNA NM_012381 NP_036513 Q9UBD5 ORC3_HUMAN origin recognition complex, subunit 3 isoform 2 708 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding 0 all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.0469) AGACTAACATGGGGAGGCTGC 0.398000 UTRN 7402 broad.mit.edu 37 6 145124231 145124231 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr6:145124231G>A uc003qkt.2 + 64 9397 c.9305G>A c.(9304-9306)CGA>CAA p.R3102Q NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 3102 Interaction with SYNM.|ZZ-type. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TTTTCGGGTCGAACAGCAAAA 0.338000 ZFAND2A 90637 broad.mit.edu 37 7 1197307 1197307 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr7:1197307C>T uc003skc.2 - 3 436 c.135G>A c.(133-135)CCG>CCA p.P45P ZFAND2A_uc003skd.3_Silent_p.P45P|uc003skf.1_5'Flank NM_182491 NP_872297 Q8N6M9 ZFN2A_HUMAN zinc finger, AN1-type domain 2A 45 AN1-type 1. cytoplasm|nucleus zinc ion binding ovary(1) 1 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15) GGAATGCAAACGGACACTTAT 0.284000 SDK1 221935 broad.mit.edu 37 7 4008964 4008964 + Missense_Mutation SNP C C T rs146705640 by1000genomes TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr7:4008964C>T uc003smx.2 + 11 1761 c.1622C>T c.(1621-1623)GCG>GTG p.A541V NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 541 Ig-like C2-type 5. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CTACAGATCGCGCCCGTCTTC 0.552000 FBXL18 80028 broad.mit.edu 37 7 5521433 5521433 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr7:5521433G>A uc003son.3 - 5 2224 c.2130C>T c.(2128-2130)GCC>GCT p.A710A NM_024963 NP_079239 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 Error:Variant_position_missing_in_Q96ME1_after_alignment central_nervous_system(2)|ovary(1) 3 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) GCGGTTCCTCGGCCACTCTGC 0.637000 C7orf28A 51622 broad.mit.edu 37 7 5949682 5949682 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr7:5949682G>A uc003spf.2 + 8 805 c.715G>A c.(715-717)GAT>AAT p.D239N NM_015622 NP_056437 P86791 CCZ1_HUMAN hypothetical protein LOC51622 239 lysosomal membrane 0 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)|OV - Ovarian serous cystadenocarcinoma(56;7.91e-15) ATTAGAACAAGATGACATGAG 0.408000 C7orf28B 221960 broad.mit.edu 37 7 6854460 6854460 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr7:6854460C>T uc003sqx.1 - 8 748 c.715G>A c.(715-717)GAT>AAT p.D239N C7orf28B_uc011jxd.1_Missense_Mutation_p.D96N NM_198097 NP_932765 P86791 CCZ1_HUMAN hypothetical protein LOC221960 239 lysosomal membrane 0 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.175) CTCATGTCATCTTGTTCTAAT 0.408000 FERD3L 222894 broad.mit.edu 37 7 19184535 19184535 + Missense_Mutation SNP A A G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr7:19184535A>G uc003suo.1 - 1 510 c.451T>C c.(451-453)TCC>CCC p.S151P uc003sun.1_RNA NM_152898 NP_690862 Q96RJ6 FER3L_HUMAN nephew of atonal 3 151 Helix-loop-helix motif. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding large_intestine(1) 1 GTCATGAAGGAGATATAGACG 0.582000 ABCB5 340273 broad.mit.edu 37 7 20698214 20698214 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr7:20698214G>A uc003suw.3 + 5 833 c.287G>A c.(286-288)CGA>CAA p.R96Q ABCB5_uc010kuh.2_Missense_Mutation_p.R541Q|ABCB5_uc003suv.3_Missense_Mutation_p.R96Q|ABCB5_uc011jyi.1_Missense_Mutation_p.R96Q NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 96 ABC transporter 1.|Extracellular (Potential). regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 GCCTTAGTTCGAAACCCCAAG 0.438000 TRA2A 29896 broad.mit.edu 37 7 23556109 23556109 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr7:23556109C>T uc003swi.2 - 3 423 c.209G>A c.(208-210)CGA>CAA p.R70Q TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_5'UTR|TRA2A_uc011jzd.1_5'UTR|TRA2A_uc010kuo.1_RNA NM_013293 NP_037425 Q13595 TRA2A_HUMAN transformer-2 alpha 70 Arg/Ser-rich (RS1 domain). nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|RNA binding ovary(1) 1 GGATCTGGATCGAGTGTAACG 0.443000 BMPER 168667 broad.mit.edu 37 7 34182863 34182863 + Silent SNP T T C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr7:34182863T>C uc011kap.1 + 14 1881 c.1767T>C c.(1765-1767)TGT>TGC p.C589C NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 589 blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 CAGACATGTGTGAATGTCCAG 0.428000 ELMO1 9844 broad.mit.edu 37 7 36934570 36934570 + Missense_Mutation SNP C C G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr7:36934570C>G uc003tfk.1 - 17 1797 c.1490G>C c.(1489-1491)AGC>ACC p.S497T ELMO1_uc003tfi.1_Missense_Mutation_p.S17T|ELMO1_uc003tfj.1_Missense_Mutation_p.S17T|ELMO1_uc011kbb.1_RNA|ELMO1_uc011kbc.1_Missense_Mutation_p.S401T|ELMO1_uc010kxg.1_Missense_Mutation_p.S497T NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 497 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 GTCCAGGGAGCTAGGCTTGGT 0.507000 GLI3 2737 broad.mit.edu 37 7 42007505 42007506 + Missense_Mutation DNP GG GG CT rs121917716 byFrequency TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr7:42007505_42007506GG>CT uc011kbh.1 - 14 2210_2211 c.2119_2120CC>AG c.(2119-2121)CCT>AGT p.P707S GLI3_uc011kbg.1_Missense_Mutation_p.P648S NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 707 P -> S (in GCPS). negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 CTGACCACCAGGGCTTGGCTGA 0.520000 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome CAMK2B 816 broad.mit.edu 37 7 44323802 44323802 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr7:44323802G>A uc003tkq.2 - 2 298 c.88C>T c.(88-90)CGC>TGC p.R30C CAMK2B_uc003tkp.2_Missense_Mutation_p.R30C|CAMK2B_uc003tkx.2_Missense_Mutation_p.R30C|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Missense_Mutation_p.R30C|CAMK2B_uc003tks.2_Missense_Mutation_p.R30C|CAMK2B_uc003tku.2_Missense_Mutation_p.R30C|CAMK2B_uc003tkv.2_Missense_Mutation_p.R30C|CAMK2B_uc003tkt.2_Missense_Mutation_p.R30C|CAMK2B_uc003tkw.2_Missense_Mutation_p.R30C|CAMK2B_uc010kyc.2_Missense_Mutation_p.R30C NM_001220 NP_001211 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II 30 Protein kinase. interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity large_intestine(1)|ovary(1) 2 TTGACACAGCGTCGGACCACA 0.478000 CLIP2 7461 broad.mit.edu 37 7 73790905 73790905 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr7:73790905G>A uc003uam.2 + 10 2501 c.2174G>A c.(2173-2175)CGC>CAC p.R725H CLIP2_uc003uan.2_Missense_Mutation_p.R690H|CLIP2_uc003uao.2_Missense_Mutation_p.R119H NM_003388 NP_003379 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 725 Potential. microtubule associated complex skin(3) 3 CAGGACCAGCGCCGGGATGCC 0.687000 PCLO 27445 broad.mit.edu 37 7 82764700 82764700 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr7:82764700C>A uc003uhx.2 - 3 2455 c.2166G>T c.(2164-2166)CAG>CAT p.Q722H PCLO_uc003uhv.2_Missense_Mutation_p.Q722H NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 668 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CCTCAGGGGGCTGCTTGGCCT 0.537000 PCLO 27445 broad.mit.edu 37 7 82784197 82784197 + Missense_Mutation SNP G G C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr7:82784197G>C uc003uhx.2 - 2 2049 c.1760C>G c.(1759-1761)ACC>AGC p.T587S PCLO_uc003uhv.2_Missense_Mutation_p.T587S NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 533 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AGGACAGATGGTTTTAGGGAG 0.458000 MGC26647 219557 broad.mit.edu 37 7 88424067 88424067 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr7:88424067C>A uc003ujv.2 - 2 372 c.190G>T c.(190-192)GAT>TAT p.D64Y ZNF804B_uc011khi.1_Intron NM_152706 NP_689919 Q8TBZ9 CG062_HUMAN hypothetical protein LOC219557 64 0 Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169) STAD - Stomach adenocarcinoma(171;0.229) TCAGCAACATCTTTTCTTTCT 0.393000 C7orf52 375607 broad.mit.edu 37 7 100816771 100816771 + Missense_Mutation SNP C C G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr7:100816771C>G uc003uxy.1 - 3 582 c.343G>C c.(343-345)GCC>CCC p.A115P C7orf52_uc003uxz.1_Missense_Mutation_p.A115P NM_198571 NP_940973 Q8N8M0 CG052_HUMAN hypothetical protein LOC375607 115 N-acetyltransferase. N-acetyltransferase activity ovary(1) 1 Lung NSC(181;0.168)|all_lung(186;0.215) GTCTCCCCGGCGTCGATCACG 0.736000 SRPK2 6733 broad.mit.edu 37 7 104909363 104909363 + Translation_Start_Site SNP T T A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr7:104909363T>A uc003vct.2 - 1 115 c.-72A>T c.(-74--70)AAAGC>AATGC SRPK2_uc003vcu.2_Intron|SRPK2_uc003vcv.2_Intron|SRPK2_uc003vcw.1_Intron NM_182691 NP_872633 P78362 SRPK2_HUMAN serine/arginine-rich protein-specific kinase 2 angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1) 6 CTGCCCTTGCTTTCAAGCCTT 0.403000 PPP1R3A 5506 broad.mit.edu 37 7 113519479 113519479 + Silent SNP T T C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr7:113519479T>C uc010ljy.1 - 4 1699 c.1668A>G c.(1666-1668)GGA>GGG p.G556G NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 556 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 TGTTACTAGCTCCAATCCCTG 0.418000 TMEM139 135932 broad.mit.edu 37 7 142983557 142983557 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr7:142983557G>A uc010lov.2 + 4 425 c.286G>A c.(286-288)GTG>ATG p.V96M CASP2_uc003wco.2_5'Flank|CASP2_uc003wcp.2_5'Flank|CASP2_uc011kta.1_5'Flank|TMEM139_uc003wck.3_Missense_Mutation_p.V96M|TMEM139_uc003wcl.2_Missense_Mutation_p.V96M|TMEM139_uc003wcm.2_Missense_Mutation_p.V96M|TMEM139_uc003wcn.2_RNA NM_153345 NP_699176 Q8IV31 TM139_HUMAN transmembrane protein 139 precursor 96 Cytoplasmic (Potential). integral to membrane 0 Melanoma(164;0.059) TGAAGAGGCCGTGGTGGGACT 0.532000 MLL3 58508 broad.mit.edu 37 7 151835972 151835972 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr7:151835972C>T uc003wla.2 - 58 14771 c.14552G>A c.(14551-14553)TGT>TAT p.C4851Y MLL3_uc003wkz.2_Missense_Mutation_p.C3965Y|MLL3_uc003wkx.2_Missense_Mutation_p.C1009Y|MLL3_uc003wky.2_Missense_Mutation_p.C2411Y NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 4851 SET. Zinc (By similarity). intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) ATTAGGTGCACACGAATGGTT 0.408000 N medulloblastoma UBXN8 7993 broad.mit.edu 37 8 30623815 30623815 + Missense_Mutation SNP C C T rs34990535 TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr8:30623815C>T uc003xii.2 + 10 735 c.718C>T c.(718-720)CGG>TGG p.R240W UBXN8_uc010lvi.2_3'UTR|UBXN8_uc011lbb.1_RNA|UBXN8_uc003xij.2_RNA NM_005671 NP_005662 O00124 UBXN8_HUMAN reproduction 8 240 UBX. single fertilization 0 CTTTCCCAGACGGCCTCTGGC 0.488000 TERF1 7013 broad.mit.edu 37 8 73951418 73951418 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr8:73951418G>A uc003xzd.2 + 9 1132 c.1107G>A c.(1105-1107)CCG>CCA p.P369P TERF1_uc003xze.2_Silent_p.P349P NM_017489 NP_059523 P54274 TERF1_HUMAN telomeric repeat binding factor 1 isoform 1 369 Interaction with RLIM. age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomerase|telomere maintenance via telomere shortening chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding ovary(1)|lung(1)|skin(1) 3 Breast(64;0.218) Epithelial(68;0.0984) AGAGTCAGCCGGTAACTCCTG 0.308000 ZFHX4 79776 broad.mit.edu 37 8 77766219 77766219 + Missense_Mutation SNP T T A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr8:77766219T>A uc003yav.2 + 10 7314 c.6927T>A c.(6925-6927)GAT>GAA p.D2309E ZFHX4_uc003yau.1_Missense_Mutation_p.D2354E|ZFHX4_uc003yaw.1_Missense_Mutation_p.D2309E NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2309 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACTCCATGGATGCCACTGATC 0.483000 HNSCC(33;0.089) ZFHX4 79776 broad.mit.edu 37 8 77766560 77766560 + Missense_Mutation SNP C C A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr8:77766560C>A uc003yav.2 + 10 7655 c.7268C>A c.(7267-7269)ACA>AAA p.T2423K ZFHX4_uc003yau.1_Missense_Mutation_p.T2468K|ZFHX4_uc003yaw.1_Missense_Mutation_p.T2423K NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2423 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCCTCTCAAACACCGGTCCCT 0.428000 HNSCC(33;0.089) RIMS2 9699 broad.mit.edu 37 8 104898052 104898052 + Missense_Mutation SNP T T C TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr8:104898052T>C uc003yls.2 + 2 800 c.559T>C c.(559-561)TCT>CCT p.S187P RIMS2_uc003ylp.2_Missense_Mutation_p.S409P|RIMS2_uc003ylw.2_Missense_Mutation_p.S217P|RIMS2_uc003ylq.2_Missense_Mutation_p.S217P|RIMS2_uc003ylr.2_Missense_Mutation_p.S217P NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 440 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AAATCAGCGATCTTATTCAAT 0.468000 HNSCC(12;0.0054) TRPS1 7227 broad.mit.edu 37 8 116599582 116599582 + Silent SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr8:116599582C>T uc003ynz.2 - 4 2766 c.2307G>A c.(2305-2307)AAG>AAA p.K769K TRPS1_uc011lhy.1_Silent_p.K773K|TRPS1_uc003yny.2_Silent_p.K782K|TRPS1_uc010mcy.2_Silent_p.K769K NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 769 Mediates interaction with GLI3. negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TCTCTTCCAGCTTCTCTCTCT 0.502000 Langer-Giedion_syndrome ADCY8 114 broad.mit.edu 37 8 132052235 132052235 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr8:132052235G>A uc003ytd.3 - 1 601 c.345C>T c.(343-345)AGC>AGT p.S115S ADCY8_uc010mds.2_Silent_p.S115S NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 115 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TGGCACTGCCGCTCCCGCTGC 0.662000 HNSCC(32;0.087) TG 7038 broad.mit.edu 37 8 133925324 133925324 + Missense_Mutation SNP C C T rs140482581 byFrequency TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr8:133925324C>T uc003ytw.2 + 20 4233 c.4192C>T c.(4192-4194)CGC>TGC p.R1398C TG_uc010mdw.2_Missense_Mutation_p.R157C NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 1398 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TCTCCTTGGGCGCTTCACAGA 0.552000 TG 7038 broad.mit.edu 37 8 134042161 134042161 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr8:134042161C>T uc003ytw.2 + 41 7173 c.7132C>T c.(7132-7134)CGG>TGG p.R2378W TG_uc010mdw.2_Missense_Mutation_p.R1137W|TG_uc011ljb.1_Missense_Mutation_p.R747W|TG_uc011ljc.1_Missense_Mutation_p.R511W NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 2378 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CGGGGACCCTCGGCGCGTGTC 0.662000 CYP11B1 1584 broad.mit.edu 37 8 143961216 143961216 + Missense_Mutation SNP G G T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr8:143961216G>T uc003yxi.2 - 1 21 c.14C>A c.(13-15)GCA>GAA p.A5E CYP11B1_uc003yxj.2_Missense_Mutation_p.A5E|CYP11B1_uc010mey.2_Missense_Mutation_p.A5E NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 5 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) CTCTGCCTTTGCCCTGAGTGC 0.607000 Familial_Hyperaldosteronism_type_I IFNB1 3456 broad.mit.edu 37 9 21077644 21077644 + Silent SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr9:21077644G>A uc003zok.2 - 1 300 c.225C>T c.(223-225)GAC>GAT p.D75D NM_002176 NP_002167 P01574 IFNB_HUMAN interferon, beta 1, fibroblast precursor 75 activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity ovary(1)|breast(1)|kidney(1) 3 GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11) Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068) TCAATGCGGCGTCCTCCTTCT 0.468000 GABBR2 9568 broad.mit.edu 37 9 101304173 101304173 + Silent SNP G G A rs142025089 TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr9:101304173G>A uc004ays.2 - 3 768 c.612C>T c.(610-612)GAC>GAT p.D204D NM_005458 NP_005449 O75899 GABR2_HUMAN G protein-coupled receptor 51 precursor 204 Extracellular (Potential). negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(2)|skin(2) 4 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) ACCTCTGAACGTCTTGCGTCA 0.537000 USP20 10868 broad.mit.edu 37 9 132637006 132637006 + Missense_Mutation SNP C C T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr9:132637006C>T uc004bys.2 + 18 2103 c.1892C>T c.(1891-1893)TCG>TTG p.S631L USP20_uc004byr.2_Missense_Mutation_p.S631L|USP20_uc004byt.1_Missense_Mutation_p.S631L NM_001110303 NP_001103773 Q9Y2K6 UBP20_HUMAN ubiquitin specific protease 20 631 endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding lung(1)|breast(1) 2 Ovarian(14;0.00556) GACCTCCTCTCGGTCATCTGC 0.647000 SEC16A 9919 broad.mit.edu 37 9 139358985 139358985 + Missense_Mutation SNP A A T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr9:139358985A>T uc004chx.2 - 9 4642 c.4333T>A c.(4333-4335)TTT>ATT p.F1445I SEC16A_uc004chv.3_Missense_Mutation_p.F835I|SEC16A_uc004chw.2_Missense_Mutation_p.F1445I|SEC16A_uc010nbn.2_Missense_Mutation_p.F1445I NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A 1267 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane 0 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GGCACTGAAAATTTTTCAGGA 0.438000 PNPLA7 375775 broad.mit.edu 37 9 140373543 140373543 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr9:140373543G>A uc004cnf.2 - 23 2990 c.2653C>T c.(2653-2655)CGC>TGC p.R885C C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Missense_Mutation_p.R151C|PNPLA7_uc004cne.1_Missense_Mutation_p.R151C|PNPLA7_uc011mfa.1_Missense_Mutation_p.R293C|PNPLA7_uc010ncj.1_Missense_Mutation_p.R910C NM_152286 NP_689499 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 885 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity skin(1) 1 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) AAGACGCGGCGCGGGCAGCAG 0.692000 GPRASP1 9737 broad.mit.edu 37 X 101912116 101912116 + Missense_Mutation SNP G G A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chrX:101912116G>A uc004ejj.3 + 5 4076 c.3275G>A c.(3274-3276)AGC>AAC p.S1092N GPRASP1_uc004eji.3_Missense_Mutation_p.S1092N|GPRASP1_uc010nod.2_Missense_Mutation_p.S1092N NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 1092 OPRD1-binding. cytoplasm protein binding ovary(1)|lung(1) 2 ATGGTACTTAGCCCAGAAGGG 0.473000 IRS4 8471 broad.mit.edu 37 X 107975886 107975886 + Missense_Mutation SNP T T A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chrX:107975886T>A uc004eoc.2 - 1 3722 c.3689A>T c.(3688-3690)GAT>GTT p.D1230V NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 1230 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 GTTGTCAGAATCTTCTCTCTC 0.552000 IRS4 8471 broad.mit.edu 37 X 107978368 107978368 + Missense_Mutation SNP T T A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chrX:107978368T>A uc004eoc.2 - 1 1240 c.1207A>T c.(1207-1209)AGC>TGC p.S403C NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 403 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 ACAGGCTCGCTGGGTGTTACG 0.622000 DDX26B 203522 broad.mit.edu 37 X 134681170 134681170 + Missense_Mutation SNP A A G TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chrX:134681170A>G uc004eyw.3 + 6 1085 c.722A>G c.(721-723)GAT>GGT p.D241G NM_182540 NP_872346 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 241 0 Acute lymphoblastic leukemia(192;6.56e-05) ACAGGACCAGATCCACTTCCT 0.308000 MCF2 4168 broad.mit.edu 37 X 138699694 138699694 + Missense_Mutation SNP T T A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chrX:138699694T>A uc004fau.2 - 8 1271 c.977A>T c.(976-978)AAA>ATA p.K326I MCF2_uc004fav.2_Missense_Mutation_p.K326I|MCF2_uc011mwl.1_Missense_Mutation_p.K287I|MCF2_uc010nsh.1_Missense_Mutation_p.K326I|MCF2_uc011mwm.1_Missense_Mutation_p.K287I|MCF2_uc011mwn.1_Missense_Mutation_p.K471I|MCF2_uc004faw.2_Missense_Mutation_p.K386I|MCF2_uc011mwo.1_Missense_Mutation_p.K386I NM_005369 NP_005360 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 326 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity lung(1)|pleura(1) 2 Acute lymphoblastic leukemia(192;0.000127) TTTATGCATTTTGAAGGTCCT 0.403000 ZMYM1 79830 broad.mit.edu 37 1 35563024 35563025 + Frame_Shift_Ins INS - - A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr1:35563024_35563025insA uc001bym.2 + 5 424_425 c.276_277insA c.(274-279)TGTAAAfs p.C92fs ZMYM1_uc001byl.1_Frame_Shift_Ins_p.C92fs|ZMYM1_uc009vus.1_RNA|ZMYM1_uc001byn.2_Frame_Shift_Ins_p.C92fs|ZMYM1_uc010ohu.1_Frame_Shift_Ins_p.C92fs|ZMYM1_uc001byo.2_5'UTR|ZMYM1_uc009vut.2_Frame_Shift_Ins_p.C17fs NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM domain containing 1 92_93 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GTGCTGGTTGTAAAAAAATTCT 0.436 MYO9A 4649 broad.mit.edu 37 15 72190282 72190283 + Frame_Shift_Del DEL TC TC - TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr15:72190282_72190283delTC uc002atl.3 - 25 5034_5035 c.4561_4562delGA c.(4561-4563)GATfs p.D1521fs MYO9A_uc010biq.2_Frame_Shift_Del_p.D1141fs|MYO9A_uc002atn.1_Frame_Shift_Del_p.D1502fs|MYO9A_uc002atk.2_Frame_Shift_Del_p.D245fs|MYO9A_uc002atm.1_Frame_Shift_Del_p.D245fs NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 1521 Potential.|Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 CTCTAAAATATCTGTTTGCTGG 0.396 GPATCH8 23131 broad.mit.edu 37 17 42478621 42478622 + Frame_Shift_Del DEL GC GC - TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr17:42478621_42478622delGC uc002igw.1 - 8 887_888 c.823_824delGC c.(823-825)GCTfs p.A275fs GPATCH8_uc002igv.1_Frame_Shift_Del_p.A197fs|GPATCH8_uc010wiz.1_Frame_Shift_Del_p.A197fs NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 275 intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) TAACCCAGGAGCCTGGGCCAGT 0.485 MAGI2 9863 broad.mit.edu 37 7 77762312 77762312 + Frame_Shift_Del DEL G G - TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr7:77762312delG uc003ugx.2 - 18 3351 c.3097delC c.(3097-3099)CTGfs p.L1033fs MAGI2_uc003ugy.2_Frame_Shift_Del_p.L1019fs|MAGI2_uc010ldx.1_Frame_Shift_Del_p.L626fs NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 1033 Pro-rich. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGCTGTGCCAGGGGACTCTGC 0.642 DAPK1 1612 broad.mit.edu 37 9 90312111 90312111 + Frame_Shift_Del DEL A A - TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr9:90312111delA uc004apc.2 + 22 2741 c.2603delA c.(2602-2604)GAAfs p.E868fs DAPK1_uc004apd.2_Frame_Shift_Del_p.E868fs|DAPK1_uc011ltg.1_Intron|DAPK1_uc011lth.1_Frame_Shift_Del_p.E605fs NM_004938 NP_004929 P53355 DAPK1_HUMAN death-associated protein kinase 1 868 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity ovary(1)|breast(1) 2 CCAGTTGAAGAACCCATAGGT 0.522 Chronic_Lymphocytic_Leukemia_Familial_Clustering_of ZMYM1 79830 broad.mit.edu 37 1 35563025 35563026 + Frame_Shift_Ins INS - - A TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr1:35563024_35563025T>TA uc001bym.3 + 3 422_423 c.276_277T>TA c.(274-279)tgtaaafs p.C92fs ZMYM1_uc001byl.1_Frame_Shift_Ins_p.C92fs|ZMYM1_uc009vus.1_Non-coding_Transcript|ZMYM1_uc001byn.3_Frame_Shift_Ins_p.C92fs|ZMYM1_uc010ohu.2_Frame_Shift_Ins_p.C92fs|ZMYM1_uc001byo.3_5'UTR|ZMYM1_uc009vut.3_Frame_Shift_Ins_p.C17fs NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA. 92 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GTGCTGGTTGTAAAAAAATTCT 0.436 SCN3A 6328 broad.mit.edu 37 2 166003267 166003268 + Frame_Shift_Ins INS - - T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr2:166003266_166003267A>AT uc002ucx.3 - 11 2145_2146 c.1653_1654T>AT c.(1651-1656)aaattcfs p.K551fs SCN3A_uc002ucy.3_Frame_Shift_Ins_p.K551fs|SCN3A_uc002ucz.3_Frame_Shift_Ins_p.K551fs|SCN3A_uc002uda.1_Frame_Shift_Ins_p.K420fs|SCN3A_uc002udb.1_Frame_Shift_Ins_p.K420fs NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA. 551 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) GGGGAGCAGAATTTTTTGTCAC 0.396 PRSS48 345062 broad.mit.edu 37 4 152201019 152201020 + Frame_Shift_Ins INS - - CAGGT rs71901196 by1000genomes TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr4:152201018_152201019G>GCAGGT uc011cif.2 + 1 123_124 c.123_124G>GCAGGT c.(121-126)tggcagfs p.W41fs PRSS48_uc011cig.2_Intron NM_183375 NP_899231 Q7RTY5 PRS48_HUMAN Homo sapiens protease, serine, 48 (PRSS48), mRNA. 41 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 GCTGGCCTTGGCAGGTCAGCCT 0.530 HIVEP2 3097 broad.mit.edu 37 6 143095415 143095416 + Frame_Shift_Ins INS - - T TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr6:143095414_143095415C>CT uc003qjd.3 - 4 1204_1205 c.461_462G>AG c.(460-462)aagfs p.K154fs NM_006734 NP_006725 P31629 ZEP2_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA. 154 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GACTTGAAATCTTTTTTCTAGG 0.470 ZNF443 10224 broad.mit.edu 37 19 12542652 12542653 + Frame_Shift_Ins INS - - TT TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr19:12542651_12542652A>ATT uc002mtu.3 - 3 532_533 c.334_335T>AAT c.(334-336)gtcfs p.V112fs NM_005815 NP_005806 Q9Y2A4 ZN443_HUMAN Homo sapiens zinc finger protein 443 (ZNF443), mRNA. 112 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 ATGACCCATGACTTTTTCTCCT 0.421 RRBP1 6238 broad.mit.edu 37 20 17622546 17622547 + Frame_Shift_Ins INS - - GGTC TCGA-HU-A4GP-01A-11D-A25D-08 TCGA-HU-A4GP-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c332efb-4379-400e-8210-632c08500d5d b855c7e5-16d1-4e02-9862-69c37bf8f5b0 g.chr20:17622545_17622546G>GGGTC uc002wpw.1 - 4 1058_1059 c.781_782C>GACCC c.(781-783)cctfs p.P261fs RRBP1_uc002wpu.3_Frame_Shift_Ins_p.P35fs|RRBP1_uc010gcl.1_Frame_Shift_Ins_p.P35fs|RRBP1_uc002wpv.1_Frame_Shift_Ins_p.P261fs NM_004587 NP_004578 Q9P2E9 RRBP1_HUMAN Homo sapiens ribosome binding protein 1 homolog 180kDa (dog) (RRBP1), transcript variant 2, mRNA. 694 41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS]. protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 AATCGCCACAGGGTCACCCTTC 0.554