Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut PCDHAC2 56134 broad.mit.edu 37 5 140215379 140215379 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr5:140215379G>A uc003lhq.2 + 0 1411 c.1411G>A c.(1411-1413)Ggc>Agc p.G471S PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.G471S NM_018910 NP_061733 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA. 485 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACCCGCCGGGCTGCCACAT 0.677000 81 24 0 0 1 0 0 FNDC7 163479 broad.mit.edu 37 1 109265029 109265029 + Missense_Mutation SNP G T T rs4423040 by1000genomes TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:109265029G>T uc001dvx.3 + 4 671 c.671G>T c.(670-672)cGg>cTg p.R224L FNDC7_uc010ova.2_5'UTR NM_001144937 NP_001138409 Q5VTL7 FNDC7_HUMAN Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA. 225 Fibronectin type-III 3. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) TCCTGGGCACGGGCAGAAGGA 0.473000 61 4 0.014758 0.0148416 1 1 0 ZNF329 79673 broad.mit.edu 37 19 58639819 58639819 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr19:58639819G>A uc002qrn.3 - 3 1289 c.1052C>T c.(1051-1053)gCt>gTt p.A351V ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_Missense_Mutation_p.A351V NM_024620 NP_078896 Q86UD4 ZN329_HUMAN Homo sapiens zinc finger protein 329 (ZNF329), mRNA. 351 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) GTCCCGGAAAGCCTTTCCACA 0.512000 82 11 0 0 1 0 0 C9orf3 84909 broad.mit.edu 37 9 97522204 97522204 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr9:97522204C>T uc004ava.3 + 0 274 c.139C>T c.(139-141)Ctc>Ttc p.L47F C9orf3_uc011lui.2_Non-coding_Transcript|C9orf3_uc004aux.2_Missense_Mutation_p.L47F|C9orf3_uc004auy.3_Missense_Mutation_p.L47F|C9orf3_uc004auz.1_Missense_Mutation_p.L47F NM_001193329 NP_001180258 Q8N6M6 AMPO_HUMAN Homo sapiens chromosome 9 open reading frame 3 (C9orf3), transcript variant 1, mRNA. 47 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(323;0.000275) AGTGCTTTTCCTCGAGGATGG 0.443000 67 13 0 0 1 0 0 BMX 660 broad.mit.edu 37 X 15568070 15568070 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chrX:15568070C>T uc004cww.3 + 17 2091 c.1903C>T c.(1903-1905)Cac>Tac p.H635Y BMX_uc004cwx.4_Missense_Mutation_p.H635Y|BMX_uc004cwy.4_Missense_Mutation_p.H635Y NM_203281 NP_975010 P51813 BMX_HUMAN Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA. 635 Protein kinase. cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) TTACCGGCCCCACCTGGCATC 0.592000 188 19 0 0 1 0 0 BC139719 0 broad.mit.edu 37 16 90161578 90161578 + Silent SNP G A A rs13337896 by1000genomes TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr16:90161578G>A uc002fqq.3 + 3 504 c.504G>A c.(502-504)acG>acA p.T168T BC139719_uc002fqp.3_Silent_p.T151T Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA. p.R105H(3) GCCAAGGGACGCTACACCGAA 0.587000 22 4 0 0 1 0 0 KRT2 3849 broad.mit.edu 37 12 53044203 53044203 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr12:53044203C>T uc001sat.3 - 1 753 c.720G>A c.(718-720)ctG>ctA p.L240L NM_000423 NP_000414 P35908 K22E_HUMAN Homo sapiens keratin 2 (KRT2), mRNA. 240 Coil 1B.|Rod. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) TGAGCCCATCCAGATATCTCT 0.478000 136 13 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38904526 38904526 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr5:38904526G>A uc003jln.2 + 8 1608 c.1206G>A c.(1204-1206)gcG>gcA p.A402A NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 402 Fibronectin type-III 1. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity p.A402V(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) AGTACATGGCGCGAGTACGGT 0.468000 67 10 0 0 1 0 0 GCC1 79571 broad.mit.edu 37 7 127225175 127225175 + Missense_Mutation SNP A C C TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr7:127225175A>C uc003vma.3 - 0 480 c.62T>G c.(61-63)aTa>aGa p.I21R NM_024523 NP_078799 Q96CN9 GCC1_HUMAN Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA. 21 Golgi membrane|plasma membrane protein binding breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 CTGGGTCTCTATAGTCTCCAG 0.552000 OREG0003808 type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 124 69 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179435770 179435770 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr2:179435770G>A uc021vsy.1 - 274 67610 c.67385C>T c.(67384-67386)cCc>cTc p.P22462L MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P16157L|TTN_uc021vta.1_Missense_Mutation_p.P16090L|TTN_uc021vtb.1_Missense_Mutation_p.P15965L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 23389 Ig-like 116. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTCATAGGTGGGTTTCTTCCA 0.443000 138 23 0 0 1 0 0 ALCAM 214 broad.mit.edu 37 3 105238943 105238944 + Missense_Mutation DNP GG AA AA TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr3:105238943_105238944GG>AA uc003dvx.3 + 1 802_803 c.106_107GG>AA c.(106-108)gga>AAa p.G36K ALCAM_uc003dvv.3_Missense_Mutation_p.G36K|ALCAM_uc003dvw.2_Missense_Mutation_p.G36K|ALCAM_uc003dvy.3_Missense_Mutation_p.G36K|ALCAM_uc011bhh.1_5'UTR NM_001627 NP_001618 Q13740 CD166_HUMAN Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA. 36 Ig-like V-type 1. cell adhesion|signal transduction integral to membrane receptor binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 TTCAGCATATGGAGATACCATT 0.381000 67 7 0 0 1 0 0 THBS4 7060 broad.mit.edu 37 5 79374919 79374919 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr5:79374919G>A uc021yaw.1 + 18 2540 c.2349G>A c.(2347-2349)ggG>ggA p.G783G BC047373_uc003kgi.4_Intron NM_003248 NP_003239 P35443 TSP4_HUMAN Homo sapiens thrombospondin 4 (THBS4), mRNA. 783 TSP C-terminal. endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) ACTTCGAAGGGACCTTCCATG 0.448000 89 14 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6958648 6958648 + Nonsense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr18:6958648G>A uc002knm.3 - 54 7886 c.7792C>T c.(7792-7794)Caa>Taa p.Q2598* LAMA1_uc002knk.3_5'Flank|LAMA1_uc002knl.3_Nonsense_Mutation_p.Q51*|LAMA1_uc010wzj.2_Nonsense_Mutation_p.Q2074* NM_005559 NP_005550 P25391 LAMA1_HUMAN Homo sapiens laminin, alpha 1 (LAMA1), mRNA. 2598 Laminin G-like 3. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCATCCAATTGGACAGTGATA 0.363000 42 8 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140751522 140751522 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr5:140751522G>A uc003ljw.2 + 0 1561 c.1561G>A c.(1561-1563)Gac>Aac p.D521N PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.D521N|PCDHGC5_uc011dau.2_5'Flank NM_018924 NP_061747 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA. 523 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGAGCCTTCGACCACGAGCA 0.682000 71 4 0 0 1 0 0 NRG3 10718 broad.mit.edu 37 10 84498390 84498390 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr10:84498390C>T uc021pvc.1 + 2 1038 c.1011C>T c.(1009-1011)tcC>tcT p.S337S NRG3_uc010qlz.1_Silent_p.S337S|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Silent_p.S337S|NRG3_uc001kcp.2_Silent_p.S116S|NRG3_uc001kcq.2_5'UTR|NRG3_uc021pvd.1_Silent_p.S116S|NRG3_uc021pve.1_Silent_p.S141S|NRG3_uc021pvf.1_5'UTR|NRG3_uc021pvg.1_Silent_p.S141S|NRG3_uc021pvh.1_5'UTR|NRG3_uc021pvi.1_Silent_p.S167S|NRG3_uc021pvk.1_5'UTR NM_001010848 NP_001010848 P56975 NRG3_HUMAN Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA. 337 regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) AAACTGATTCCATCTTATCGG 0.413000 60 4 0 0 1 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133670154 133670154 + Nonsense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr3:133670154C>T uc003eqa.4 - 5 1033 c.759G>A c.(757-759)tgG>tgA p.W253* SLCO2A1_uc011blv.2_Intron|SLCO2A1_uc010htw.1_Nonsense_Mutation_p.W85* NM_005630 NP_005621 Q92959 SO2A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA. 253 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding p.W253*(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 AGGCTCCAATCCATCGGGGGT 0.478000 83 15 0 0 1 0 0 STK38L 23012 broad.mit.edu 37 12 27470855 27470855 + Missense_Mutation SNP C A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr12:27470855C>A uc001rhr.3 + 10 1181 c.982C>A c.(982-984)Cct>Act p.P328T STK38L_uc010sjm.2_Missense_Mutation_p.P235T|STK38L_uc010sjn.2_Missense_Mutation_p.P66T|STK38L_uc010sjo.2_5'UTR NM_015000 NP_055815 Q9Y2H1 ST38L_HUMAN Homo sapiens serine/threonine kinase 38 like (STK38L), mRNA. 328 Protein kinase. intracellular protein kinase cascade|regulation of cellular component organization actin cytoskeleton|cytoplasm ATP binding|actin binding|magnesium ion binding|protein serine/threonine kinase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 Colorectal(261;0.0847) CTCTGAAACACCTCAAGAAAC 0.388000 56 10 6.40141e-05 6.56792e-05 1 1 0 PCSK5 5125 broad.mit.edu 37 9 78804140 78804140 + Splice_Site SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr9:78804140G>A uc004akc.2 + 19 3048 c.2510_splice c.e19+1 p.K837_splice PCSK5_uc004ajz.3_Splice_Site_p.K837_splice|PCSK5_uc004aka.3_Splice_Site|PCSK5_uc004akb.3_Splice_Site_p.K111_splice NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 837 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 CCTGCAAAAAGTAAGTGGATC 0.403000 73 19 0 0 1 0 0 USHBP1 83878 broad.mit.edu 37 19 17370466 17370466 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr19:17370466G>A uc002nfs.1 - 5 957 c.844C>T c.(844-846)Ccc>Tcc p.P282S USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.P218S|USHBP1_uc010eam.1_Missense_Mutation_p.P210S NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA. 282 PDZ domain binding p.P282R(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 GGCTGGTTGGGAAGAGACCCA 0.572000 179 10 0 0 1 0 0 GPR124 25960 broad.mit.edu 37 8 37688966 37688966 + Missense_Mutation SNP G A A rs111714720 byFrequency TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr8:37688966G>A uc003xkj.3 + 7 1344 c.958G>A c.(958-960)Gtg>Atg p.V320M GPR124_uc010lvy.3_Missense_Mutation_p.V320M NM_032777 NP_116166 Q96PE1 GP124_HUMAN Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA. 320 Ig-like. central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) TCACATCGGCGTGTGGGCCTC 0.652000 38 3 0 0 1 0 0 SPIN2B 474343 broad.mit.edu 37 X 57146322 57146322 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chrX:57146322G>A uc004duy.3 - 1 1000 c.741C>T c.(739-741)ttC>ttT p.F247F SPIN2B_uc004duz.3_Silent_p.F247F|SPIN2B_uc004dva.3_Silent_p.F247F|SPIN2B_uc022bxw.1_Silent_p.F247F|SPIN2B_uc011mor.1_Non-coding_Transcript NM_001006682 NP_001006684 Q9BPZ2 SPI2B_HUMAN Homo sapiens spindlin family, member 2B (SPIN2B), transcript variant 2, mRNA. 247 apoptosis|cell cycle|gamete generation nucleus endometrium(3)|large_intestine(1)|skin(1) 5 CATAGATATGGAAATCATCAT 0.368000 65 6 0 0 1 0 0 USF2 7392 broad.mit.edu 37 19 35769606 35769606 + Missense_Mutation SNP C G G TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr19:35769606C>G uc010xss.1 + 7 842 c.733C>G c.(733-735)Cgg>Ggg p.R245G USF2_uc002nyq.1_Missense_Mutation_p.R245G|USF2_uc002nyr.1_Missense_Mutation_p.R178G|USF2_uc002nyt.1_Missense_Mutation_p.R114G|USF2_uc002nyv.1_Missense_Mutation_p.R47G Q15853 USF2_HUMAN Homo sapiens upstream transcription factor 2, c-fos interacting (USF2), transcript variant 1, mRNA. 245 Poly-Arg. lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose nucleus bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1) 13 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) CGCAGTGGAGCGGAGGCGGAG 0.597000 192 33 0 0 1 0 0 AMHR2 269 broad.mit.edu 37 12 53818087 53818087 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr12:53818087G>A uc001scx.2 + 1 145 c.65G>A c.(64-66)cGa>cAa p.R22Q AMHR2_uc009zmy.2_Missense_Mutation_p.R22Q|AMHR2_uc021qyg.1_Missense_Mutation_p.R22Q NM_020547 NP_065434 Q16671 AMHR2_HUMAN Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA. 22 Mullerian duct regression ATP binding|hormone binding|metal ion binding breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) CCAAACAGGCGAACCTGTGTG 0.542000 61 5 0 0 1 0 0 OR4M2 390538 broad.mit.edu 37 15 22368880 22368880 + Missense_Mutation SNP T A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr15:22368880T>A uc010tzu.2 + 0 403 c.305T>A c.(304-306)tTc>tAc p.F102Y abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA. 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GCACAGCTCTTCTTCTTACAC 0.458000 306 35 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16034682 16034682 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr19:16034682G>A uc002nbu.2 - 6 894 c.858C>T c.(856-858)ttC>ttT p.F286F CYP4F11_uc010eab.1_Silent_p.F286F|CYP4F11_uc002nbt.2_Silent_p.F286F NM_001128932 NP_067010 Q9HBI6 CP4FB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA. 286 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding p.F286S(1) NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 TGTTCTTGAGGAAATCATCAA 0.532000 85 21 0 0 1 0 0 CLDN1 9076 broad.mit.edu 37 3 190026141 190026141 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr3:190026141G>A uc003fsh.3 - 3 801 c.561C>T c.(559-561)ccC>ccT p.P187P NM_021101 NP_066924 O95832 CLD1_HUMAN Homo sapiens claudin 1 (CLDN1), mRNA. 187 calcium-independent cell-cell adhesion|interspecies interaction between organisms integral to plasma membrane|tight junction identical protein binding|structural molecule activity lung(9) 9 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) TTGTTTTTCGGGGACAGGAAC 0.502000 89 17 0 0 1 0 0 DIAPH3 81624 broad.mit.edu 37 13 60435649 60435649 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr13:60435649C>T uc001vht.3 - 21 2848 c.2629G>A c.(2629-2631)Gat>Aat p.D877N DIAPH3_uc001vhu.3_Missense_Mutation_p.D614N|DIAPH3_uc001vhv.3_Missense_Mutation_p.D455N NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA. 877 FH2. actin cytoskeleton organization Rho GTPase binding|actin binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) GTTTTCTGATCTGCTGATTTT 0.338000 60 30 0 0 1 0 0 SCARF2 91179 broad.mit.edu 37 22 20780200 20780200 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr22:20780200G>A uc002zsj.2 - 10 2183 c.2078C>T c.(2077-2079)tCc>tTc p.S693F SCARF2_uc002zsk.2_Missense_Mutation_p.S688F NM_153334 NP_699165 Q96GP6 SREC2_HUMAN Homo sapiens scavenger receptor class F, member 2 (SCARF2), transcript variant 1, mRNA. 688 Pro-rich. cell adhesion integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 10 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CGCGGCCTCGGAGCCTGGCGG 0.721000 14 5 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71592656 71592657 + Missense_Mutation DNP AC TT TT TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr2:71592656_71592657AC>TT uc002shx.3 + 5 2138_2139 c.1815_1816AC>TT c.(1813-1818)tcacca>tcTTca p.P606S ZNF638_uc010fec.2_Missense_Mutation_p.P712S|ZNF638_uc010yqw.1_Missense_Mutation_p.P185S|ZNF638_uc002shw.3_Missense_Mutation_p.P606S|ZNF638_uc002shz.3_Missense_Mutation_p.P606S|ZNF638_uc002shy.3_Missense_Mutation_p.P606S|ZNF638_uc002sia.3_Missense_Mutation_p.P606S|ZNF638_uc002sib.1_Missense_Mutation_p.P606S NM_014497 NP_055312 Q14966 ZN638_HUMAN Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA. 606 RNA splicing cytoplasm|nuclear speck RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 AGGGACATTCACCAGCACAAAA 0.386000 61 8 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152426873 152426873 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr2:152426873C>T uc021vrb.1 - 79 12078 c.12049G>A c.(12049-12051)Gga>Aga p.G4017R NEB_uc002txr.3_Missense_Mutation_p.G483R|NEB_uc002txu.3_Missense_Mutation_p.G5718R|NEB_uc021vrc.1_Missense_Mutation_p.G5718R|NEB_uc010fnx.3_Missense_Mutation_p.G4005R|NEB_uc021vrd.1_Missense_Mutation_p.G4017R NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 4017 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ACGTAGTGTCCCTTCTGCTTC 0.517000 20 3 0 0 1 0 0 TRIM14 9830 broad.mit.edu 37 9 100857210 100857210 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr9:100857210C>T uc004ayd.2 - 3 657 c.639G>A c.(637-639)aaG>aaA p.K213K TRIM14_uc011luz.1_5'Flank|TRIM14_uc011lva.1_5'Flank|TRIM14_uc004ayg.1_Silent_p.K213K|TRIM14_uc004ayh.1_Silent_p.K213K NM_033220 NP_150089 Q14142 TRI14_HUMAN Homo sapiens tripartite motif containing 14 (TRIM14), transcript variant 3, mRNA. 213 cytoplasm|intracellular zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(62;0.0559) CCACGAGGCCCTTAAAGAAGC 0.562000 78 13 0 0 1 0 0 AQP10 89872 broad.mit.edu 37 1 154296916 154296916 + Missense_Mutation SNP A C C TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:154296916A>C uc001feu.3 + 5 906 c.866A>C c.(865-867)gAa>gCa p.E289A ATP8B2_uc001few.3_5'Flank NM_080429 NP_536354 Q96PS8 AQP10_HUMAN Homo sapiens aquaporin 10 (AQP10), mRNA. 289 response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1) 23 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TCAGAGTTGGAAACTCCTGCC 0.577000 OREG0013832 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 79 15 0 0 1 0 0 OR2F1 26211 broad.mit.edu 37 7 143657506 143657506 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr7:143657506C>T uc003wds.1 + 0 487 c.443C>T c.(442-444)tCc>tTc p.S148F NM_012369 NP_036501 Q13607 OR2F1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA. 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) GCCATCACATCCTGGGTCAGT 0.532000 75 67 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140347863 140347863 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr5:140347863G>A uc003lii.3 + 0 2117 c.1512G>A c.(1510-1512)gtG>gtA p.V504V PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.V504V NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA. 504 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCAGAGGTGACCTACTCCC 0.498000 129 27 0 0 1 0 0 CALCOCO2 10241 broad.mit.edu 37 17 46925686 46925686 + Missense_Mutation SNP T C C TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr17:46925686T>C uc010wlr.2 + 4 437 c.358T>C c.(358-360)Tac>Cac p.Y120H CALCOCO2_uc010wlq.2_Missense_Mutation_p.Y24H|CALCOCO2_uc010wls.2_Missense_Mutation_p.Y96H|CALCOCO2_uc002iof.3_Missense_Mutation_p.Y96H|CALCOCO2_uc010wlp.2_Missense_Mutation_p.Y117H NM_005831 NP_005822 Q13137 CACO2_HUMAN Homo sapiens calcium binding and coiled-coil domain 2 (CALCOCO2), mRNA. 96 response to interferon-gamma|viral reproduction Golgi apparatus|cytoskeleton|nucleus|perinuclear region of cytoplasm|soluble fraction protein homodimerization activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 15 GTTTTCAGCTTACTACCTGCC 0.398000 55 4 0 0 1 0 0 ACSL4 2182 broad.mit.edu 37 X 108926080 108926080 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chrX:108926080G>A uc004eoi.2 - 4 902 c.397C>T c.(397-399)Cgc>Tgc p.R133C ACSL4_uc004eoj.2_Missense_Mutation_p.R92C|ACSL4_uc004eok.2_Missense_Mutation_p.R92C|ACSL4_uc010npp.1_Missense_Mutation_p.R133C NM_022977 NP_004449 O60488 ACSL4_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 4 (ACSL4), transcript variant 2, mRNA. 133 R -> C (in a colorectal cancer sample; somatic mutation). fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity p.R133C(2) breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2) 22 Icosapent(DB00159)|Troglitazone(DB00197) TTCACTCTGCGATTCACTTCA 0.363000 87 14 0 0 1 0 0 RBL1 5933 broad.mit.edu 37 20 35661126 35661126 + Missense_Mutation SNP T C C TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr20:35661126T>C uc002xgi.3 - 15 2403 c.2324A>G c.(2323-2325)cAt>cGt p.H775R RBL1_uc002xgj.1_Missense_Mutation_p.H775R NM_002895 NP_002886 P28749 RBL1_HUMAN Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA. 775 Pocket; binds T and E1A.|Spacer. cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) TCCAGTTGAATGTACCTCTTG 0.368000 177 63 0 0 1 0 0 TM7SF3 51768 broad.mit.edu 37 12 27148193 27148193 + Nonsense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr12:27148193G>A uc010sjl.2 - 4 905 c.667C>T c.(667-669)Cag>Tag p.Q223* NM_016551 NP_057635 Q9NS93 TM7S3_HUMAN Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA. 223 integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Colorectal(261;0.0847) GCCTTCACCTGGGGCACACTG 0.498000 112 15 0 0 1 0 0 ZNF678 339500 broad.mit.edu 37 1 227843163 227843163 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:227843163C>T uc021pjy.1 + 3 1553 c.1377C>T c.(1375-1377)ccC>ccT p.P459P ZNF678_uc001hqw.2_Silent_p.P404P|ZNF678_uc009xet.2_Intron|ZNF678_uc009xeu.2_Intron NM_178549 NP_848644 F5GXA7 F5GXA7_HUMAN Homo sapiens zinc finger protein 678 (ZNF678), transcript variant 1, mRNA. 459 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) GAGTGAAACCCTACAAATGTG 0.378000 35 4 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54805466 54805466 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr6:54805466C>T uc003pck.3 + 4 1813 c.1697C>T c.(1696-1698)tCa>tTa p.S566L NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 566 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TCCTCAAATTCAACTATCATT 0.433000 63 10 0 0 1 0 0 HECA 51696 broad.mit.edu 37 6 139487974 139487974 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr6:139487974G>A uc003qin.3 + 1 1110 c.825G>A c.(823-825)acG>acA p.T275T NM_016217 NP_057301 Q9UBI9 HDC_HUMAN Homo sapiens headcase homolog (Drosophila) (HECA), mRNA. 275 respiratory tube development endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1) 15 GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387) CCCCACCCACGGGCTACTCCA 0.652000 23 6 0 0 1 0 0 TSC2 7249 broad.mit.edu 37 16 2110709 2110709 + Silent SNP C T T rs137854269 TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr16:2110709C>T uc002con.3 + 10 1120 c.1014C>T c.(1012-1014)atC>atT p.I338I TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Silent_p.I338I|TSC2_uc002coo.3_Silent_p.I338I|TSC2_uc010uvv.2_Silent_p.I301I|TSC2_uc010uvw.2_Silent_p.I289I|TSC2_uc002cop.3_Silent_p.I138I NM_000548 NP_000539 P49815 TSC2_HUMAN Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA. 338 Required for interaction with TSC1. cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) CCTATGAGATCGTCCTGTCCA 0.587000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 110 43 0 0 1 0 0 OR4C11 219429 broad.mit.edu 37 11 55371061 55371061 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr11:55371061G>A uc010rii.2 - 0 814 c.789C>T c.(787-789)ttC>ttT p.F263F NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA. 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 TGTCCATGGGGAAAGTGGTCG 0.433000 34 28 0 0 1 0 0 ADCY9 115 broad.mit.edu 37 16 4163889 4163889 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr16:4163889G>A uc002cvx.3 - 1 2094 c.1555C>T c.(1555-1557)Ctc>Ttc p.L519F NM_001116 NP_001107 O60503 ADCY9_HUMAN Homo sapiens adenylate cyclase 9 (ADCY9), mRNA. 519 Guanylate cyclase 1. 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 plasma membrane ATP binding|adenylate cyclase activity|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 TGCTCCATGAGATTGGCCAGG 0.522000 146 34 0 0 1 0 0 PODXL 5420 broad.mit.edu 37 7 131189231 131189231 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr7:131189231C>T uc003vqw.4 - 8 1774 c.1516G>A c.(1516-1518)Ggt>Agt p.G506S PODXL_uc003vqx.4_Missense_Mutation_p.G474S NM_001018111 NP_001018121 O00592 PODXL_HUMAN Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA. 506 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) TCATGGTAACCATTCTCCACT 0.557000 110 70 0 0 1 0 0 GAA 2548 broad.mit.edu 37 17 78083818 78083818 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr17:78083818C>T uc002jxp.3 + 8 1768 c.1401C>T c.(1399-1401)ttC>ttT p.F467F GAA_uc002jxo.3_Silent_p.F467F|GAA_uc002jxq.3_Silent_p.F467F NM_000152 NP_001073272 P10253 LYAG_HUMAN Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA. 467 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) GGGGGGTTTTCATCACCAACG 0.657000 72 11 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46653813 46653813 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr22:46653813C>T uc003bhh.3 - 0 5407 c.5407G>A c.(5407-5409)Gaa>Aaa p.E1803K NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA. 1803 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CACATTTTTTCACTAGATTTT 0.403000 163 57 0 0 1 0 0 PKP3 11187 broad.mit.edu 37 11 397259 397259 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr11:397259G>A uc021qbk.1 + 3 832 c.803G>A c.(802-804)cGa>cAa p.R268Q PKP3_uc001lpc.3_Missense_Mutation_p.R253Q NM_007183 NP_009114 Q9Y446 PKP3_HUMAN Homo sapiens plakophilin 3 (PKP3), mRNA. 253 cell adhesion desmosome|nucleus binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACCCTGCAGCGATTCCAGAGC 0.736000 10 3 0 0 1 0 0 LPCAT1 79888 broad.mit.edu 37 5 1495002 1495002 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr5:1495002G>A uc003jcm.3 - 2 423 c.306C>T c.(304-306)atC>atT p.I102I NM_024830 NP_079106 Q8NF37 PCAT1_HUMAN Homo sapiens lysophosphatidylcholine acyltransferase 1 (LPCAT1), mRNA. 102 phospholipid biosynthetic process Golgi membrane|endoplasmic reticulum membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) TGGTGCGCATGATGGCCTTCA 0.687000 18 12 0 0 1 0 0 TBX20 57057 broad.mit.edu 37 7 35284637 35284637 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr7:35284637C>T uc011kas.2 - 3 1058 c.578G>A c.(577-579)gGt>gAt p.G193D NM_001077653 NP_001071121 Q9UMR3 TBX20_HUMAN Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA. 193 nucleus DNA binding p.G193S(1) central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 TAGTTGCTCACCGGTAAAAGG 0.388000 39 6 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90136501 90136501 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr5:90136501G>A uc003kju.3 + 77 16814 c.16718G>A c.(16717-16719)aGa>aAa p.R5573K GPR98_uc003kjt.3_Missense_Mutation_p.R3279K|GPR98_uc003kjw.3_Missense_Mutation_p.R1234K NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 5573 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CCTGGCCAGAGAAGCACTGTA 0.433000 175 32 0 0 1 0 0 OR8D2 283160 broad.mit.edu 37 11 124190055 124190055 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr11:124190055G>A uc010sah.2 - 0 39 c.39C>T c.(37-39)atC>atT p.I13I NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA. 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) AGCCTGCCAGGATAAACTCAG 0.423000 120 20 0 0 1 0 0 HLA-G 3135 broad.mit.edu 37 6 29856347 29856347 + Silent SNP C T T rs3128875 by1000genomes TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr6:29856347C>T uc010jro.3 + 2 599 c.453C>T c.(451-453)gcC>gcT p.A151A HLA-G_uc021ytw.1_Non-coding_Transcript|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_5'Flank|HLA-G_uc021ytv.1_Silent_p.A149A|HLA-J_uc021ytx.1_5'Flank P17693 HLAG_HUMAN Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA. 149 Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway MHC class I protein complex|integral to membrane MHC class I receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 ATTACATCGCCCTGAACGAGG 0.662000 31 3 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38633303 38633303 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr19:38633303C>T uc002ohk.3 + 11 3995 c.3486C>T c.(3484-3486)tcC>tcT p.S1162S NM_015073 NP_055888 O60292 SI1L3_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA. 1162 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GGAGCTTCTCCACCCCCGGTT 0.557000 OREG0025445 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 233 49 0 0 1 0 0 LMTK3 114783 broad.mit.edu 37 19 49005811 49005811 + Nonsense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr19:49005811G>A uc002pjk.3 - 7 760 c.760C>T c.(760-762)Cag>Tag p.Q254* NM_001080434 NP_001073903 Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA. breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) GGGGGCCGCTGGGCTCGGAGG 0.697000 23 7 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124415047 124415047 + Nonsense_Mutation SNP C A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr3:124415047C>A uc003ehg.3 + 53 7771 c.7644C>A c.(7642-7644)tgC>tgA p.C2548* KALRN_uc003ehk.3_Nonsense_Mutation_p.C851* NM_001024660 NP_001019831 O60229 KALRN_HUMAN Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA. 2547 Ig-like C2-type. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TTTATACCTGCATAGCAACAA 0.423000 96 11 1.58986e-06 1.64549e-06 1 1 0 RASSF7 8045 broad.mit.edu 37 11 562264 562264 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr11:562264G>A uc001lqc.3 + 2 345 c.310G>A c.(310-312)Gaa>Aaa p.E104K C11orf35_uc001lpx.3_5'Flank|RASSF7_uc001lqb.3_Missense_Mutation_p.E104K|RASSF7_uc001lqd.3_Missense_Mutation_p.E104K NM_003475 NP_003466 Q02833 RASF7_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 7 (RASSF7), transcript variant 1, mRNA. 104 regulation of transcription, DNA-dependent|signal transduction nucleus DNA binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3) 8 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) TCCACCCCCGGAACGCTGCCT 0.667000 29 7 0 0 1 0 0 C6orf170 221322 broad.mit.edu 37 6 121629166 121629166 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr6:121629166C>T uc003pyo.1 - 4 714 c.646G>A c.(646-648)Gaa>Aaa p.E216K C6orf170_uc003pyq.1_Non-coding_Transcript NM_152730 NP_689943 Q96NH3 BROMI_HUMAN Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA. 216 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity p.E216*(2) NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 55 GBM - Glioblastoma multiforme(226;0.00521) GTCAGTTTTTCGCAGAGAGTA 0.353000 20 7 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8181640 8181640 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr19:8181640G>A uc002mjf.3 - 27 3647 c.3630C>T c.(3628-3630)ggC>ggT p.G1210G NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 1210 EGF-like 17. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TGGTGCAGTGGCCTTGGTCAC 0.602000 66 4 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34047374 34047374 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr15:34047374C>T uc001zhi.3 + 57 8578 c.8508C>T c.(8506-8508)gcC>gcT p.A2836A RYR3_uc010bar.3_Silent_p.A2836A NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 2836 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AATTTATTGCCCATTTAGGTA 0.343000 19 6 0 0 1 0 0 CHRM2 1129 broad.mit.edu 37 7 136699738 136699738 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr7:136699738C>T uc003vtf.1 + 3 749 c.126C>T c.(124-126)atC>atT p.I42I CHRM2_uc003vtg.1_Silent_p.I42I|CHRM2_uc003vti.1_Silent_p.I42I|CHRM2_uc003vtm.1_Silent_p.I42I|CHRM2_uc003vtj.1_Silent_p.I42I|CHRM2_uc003vtk.1_Silent_p.I42I|CHRM2_uc003vtl.1_Silent_p.I42I|CHRM2_uc003vtn.1_Silent_p.I42I|CHRM2_uc003vto.1_Silent_p.I42I|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Silent_p.I42I NM_001006630 NP_001006633 P08172 ACM2_HUMAN Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA. 42 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) TCGGGAACATCCTAGTCATGG 0.438000 84 42 0 0 1 0 0 OR13C5 138799 broad.mit.edu 37 9 107361423 107361423 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr9:107361423G>A uc011lvp.2 - 0 272 c.272C>T c.(271-273)aCc>aTc p.T91I NM_001004482 NP_001004482 Q8NGS8 O13C5_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA. 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 AAGGGAAATGGTCTTTCTTTC 0.517000 65 25 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77763619 77763619 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr8:77763619G>A uc003yau.2 + 9 4849 c.4462G>A c.(4462-4464)Gag>Aag p.E1488K ZFHX4_uc003yaw.1_Missense_Mutation_p.E1443K NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 1443 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCAGGAAATGGAGAGAGAGTA 0.502000 HNSCC(33;0.089) 42 4 0 0 1 0 0 HSP90AB3P 3327 broad.mit.edu 37 4 88813552 88813552 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr4:88813552G>A uc010iko.1 + 1 496 c.496G>A c.(496-498)Gaa>Aaa p.E166K Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA. CCATCTTAAAGAAGATCAGAC 0.468000 107 25 0 0 1 0 0 KIAA1614 57710 broad.mit.edu 37 1 180905209 180905209 + Nonsense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:180905209C>T uc001gok.2 + 4 2231 c.2164C>T c.(2164-2166)Cag>Tag p.Q722* KIAA1614_uc001gol.1_Nonsense_Mutation_p.Q343*|KIAA1614_uc001gom.1_Intron NM_020950 NP_066001 Q5VZ46 K1614_HUMAN Homo sapiens KIAA1614 (KIAA1614), mRNA. 722 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 CCTGGGACCCCAGTGGCAGCC 0.607000 52 14 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15649691 15649691 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr10:15649691G>A uc001ioc.1 - 16 1749 c.1749C>T c.(1747-1749)ttC>ttT p.F583F ITGA8_uc010qcb.1_Silent_p.F568F NM_003638 NP_003629 P53708 ITA8_HUMAN Homo sapiens integrin, alpha 8 (ITGA8), mRNA. 583 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 GGTAAACGATGAAATCCTGGC 0.428000 205 41 0 0 1 0 0 KRIT1 889 broad.mit.edu 37 7 91855955 91855955 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr7:91855955C>T uc003ulr.1 - 10 1923 c.1031G>A c.(1030-1032)gGa>gAa p.G344E KRIT1_uc010lev.1_Missense_Mutation_p.G137E|KRIT1_uc003ulq.1_Missense_Mutation_p.G344E|KRIT1_uc003uls.1_Missense_Mutation_p.G344E|KRIT1_uc003ult.1_Missense_Mutation_p.G296E|KRIT1_uc003ulu.1_Missense_Mutation_p.G344E|KRIT1_uc003ulv.1_Missense_Mutation_p.G344E NM_004912 NP_919438 O00522 KRIT1_HUMAN Homo sapiens KRIT1, ankyrin repeat containing (KRIT1), transcript variant 2, mRNA. 344 angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ATTGCACTTTCCTTTCTCTAA 0.353000 37 11 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8501020 8501020 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr9:8501020G>A uc003zkk.3 - 23 2605 c.1862C>T c.(1861-1863)cCa>cTa p.P621L PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 621 Fibronectin type-III 4. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AGTGGAACTTGGGCTGGTGCA 0.433000 TSP Lung(15;0.13) 47 5 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120764346 120764346 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr3:120764346C>T uc003eec.4 + 4 574 c.434C>T c.(433-435)cCa>cTa p.P145L STXBP5L_uc011bji.2_Missense_Mutation_p.P145L NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 145 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) CAAAAAAGGCCAGCCATACTC 0.348000 118 9 0 0 1 0 0 PDE5A 8654 broad.mit.edu 37 4 120528376 120528376 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr4:120528376C>T uc003idh.3 - 1 384 c.229G>A c.(229-231)Gaa>Aaa p.E77K PDE5A_uc003idf.3_Missense_Mutation_p.E35K|PDE5A_uc003idg.3_Missense_Mutation_p.E25K NM_001083 NP_246273 O76074 PDE5A_HUMAN Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA. 77 platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding p.E77K(2) breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) GAGCAAGATTCGGTGTGGCCT 0.517000 48 10 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76754968 76754968 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr18:76754968G>A uc002lmt.3 + 1 2977 c.2977G>A c.(2977-2979)Gaa>Aaa p.E993K SALL3_uc010dra.3_Intron NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA. 993 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GAGCGCGTTGGAAATCCACTA 0.572000 38 13 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573286 140573286 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr5:140573286G>A uc003lix.3 + 0 1335 c.1161G>A c.(1159-1161)gaG>gaA p.E387E NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN Homo sapiens protocadherin beta 10 (PCDHB10), mRNA. 387 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACATTCAAGAGAATCTGCCAT 0.428000 66 14 0 0 1 0 0 SLC7A13 157724 broad.mit.edu 37 8 87235210 87235210 + Missense_Mutation SNP G A A rs138931035 byFrequency TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr8:87235210G>A uc003ydq.1 - 1 906 c.808C>T c.(808-810)Ctc>Ttc p.L270F SLC7A13_uc003ydr.1_Missense_Mutation_p.L261F NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA. 270 integral to membrane amino acid transmembrane transporter activity p.L270L(1) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 CCTGAAGAGAGAATTTCCCTG 0.383000 75 7 0 0 1 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45499915 45499915 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr21:45499915C>T uc002zea.3 + 12 1799 c.1630C>T c.(1630-1632)Ctc>Ttc p.L544F TRAPPC10_uc010gpo.3_Missense_Mutation_p.L255F|TRAPPC10_uc011afa.2_5'Flank NM_003274 NP_003265 P48553 TPC10_HUMAN Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA. 544 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity p.L544L(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 GACCAGCAGCCTCTTAGCCAG 0.582000 47 4 0 0 1 0 0 TRIM56 81844 broad.mit.edu 37 7 100731068 100731068 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr7:100731068G>A uc003uxq.3 + 2 706 c.475G>A c.(475-477)Gag>Aag p.E159K TRIM56_uc003uxr.3_Missense_Mutation_p.E159K|TRIM56_uc022aiw.1_Missense_Mutation_p.E159K NM_030961 NP_112223 Q9BRZ2 TRI56_HUMAN Homo sapiens tripartite motif containing 56 (TRIM56), mRNA. 159 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(181;0.136)|all_lung(186;0.182) GTGGTATGATGAGGAGGCCCG 0.697000 19 3 0 0 1 0 0 ESX1 80712 broad.mit.edu 37 X 103499518 103499518 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chrX:103499518G>A uc004ely.3 - 0 82 c.13C>T c.(13-15)Cgc>Tgc p.R5C NM_153448 NP_703149 Q8N693 ESX1_HUMAN Homo sapiens ESX homeobox 1 (ESX1), mRNA. 5 negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R5H(1)|p.L4H(1) endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 GTGTACCCGCGAAGAGACTCC 0.587000 193 21 0 0 1 0 0 GLP1R 2740 broad.mit.edu 37 6 39046769 39046769 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr6:39046769C>T uc003ooj.4 + 8 981 c.921C>T c.(919-921)ctC>ctT p.L307L GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript NM_002062 NP_002053 P43220 GLP1R_HUMAN Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA. 307 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) ACTACTGGCTCATTATCCGGC 0.587000 173 32 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52402787 52402787 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr3:52402787G>A uc011bef.2 + 36 6057 c.5796G>A c.(5794-5796)cgG>cgA p.R1932R NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 1932 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CGTTCATCCGGGCGGGGGCCA 0.597000 149 24 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 60 52 0 0 1 0 0 HEXIM1 10614 broad.mit.edu 37 17 43226693 43226693 + Silent SNP A C C TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr17:43226693A>C uc002iig.3 + 0 2010 c.136A>C c.(136-138)Agg>Cgg p.R46R NM_006460 NP_006451 O94992 HEXI1_HUMAN Homo sapiens hexamethylene bis-acetamide inducible 1 (HEXIM1), mRNA. 46 negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GGAGGACAGTAGGTGGCAATC 0.667000 OREG0024474 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 84 9 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21658840 21658840 + Splice_Site SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr7:21658840G>A uc003svc.3 + 24 4423 c.4392_splice c.e24+1 p.K1464_splice NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 1464 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GGACTGAGAAGGTAGTGTCCT 0.483000 Kartagener syndrome 26 5 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247592886 247592886 + Splice_Site SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:247592886G>A uc001icr.3 + 6 2295 c.2157_splice c.e6-1 p.G719_splice NLRP3_uc001ics.3_Splice_Site_p.G719_splice|NLRP3_uc001icu.3_Splice_Site_p.G719_splice|NLRP3_uc001icw.3_Intron|NLRP3_uc001icv.3_Intron|NLRP3_uc010pyw.2_Splice_Site_p.G717_splice NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 719 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CTAATTCCTAGATTGGTGAAC 0.493000 111 7 0 0 1 0 0 NFATC2IP 84901 broad.mit.edu 37 16 28975100 28975100 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr16:28975100C>T uc002dru.3 + 7 1191 c.1176C>T c.(1174-1176)ttC>ttT p.F392F NPIPL1_uc010vct.2_Intron|NFATC2IP_uc002drt.3_Silent_p.F113F|NFATC2IP_uc002drv.3_Silent_p.F111F|NFATC2IP_uc010vdh.2_Silent_p.F100F NM_032815 NP_116204 Q8NCF5 NF2IP_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein (NFATC2IP), mRNA. 392 Ubiquitin-like. cytoplasm|nucleus breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2) 11 TCTCCTTCTTCTTTGATGGGA 0.552000 73 12 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55494363 55494363 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr19:55494363C>T uc021vbq.1 + 5 1408 c.1297C>T c.(1297-1299)Ctc>Ttc p.L433F NLRP2_uc010yfp.2_Missense_Mutation_p.L410F|NLRP2_uc002qij.3_Missense_Mutation_p.L433F|NLRP2_uc010esp.3_Missense_Mutation_p.L411F|NLRP2_uc010esn.3_Missense_Mutation_p.L409F|NLRP2_uc010eso.3_Missense_Mutation_p.L430F NM_001174081 NP_060322 Q9NX02 NALP2_HUMAN Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA. 433 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CCTGCGTTTCCTCTGCAGCCG 0.701000 23 6 0 0 1 0 0 NPHP3 27031 broad.mit.edu 37 3 132437903 132437903 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr3:132437903G>A uc003epe.2 - 2 709 c.605C>T c.(604-606)gCt>gTt p.A202V NPHP3_uc003epf.2_5'UTR NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA. 202 Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GATACCCTGAGCCTGTAGCCT 0.393000 70 16 0 0 1 0 0 OC90 729330 broad.mit.edu 37 8 133044280 133044280 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr8:133044280G>A uc003ytg.2 - 10 879 c.879C>T c.(877-879)ttC>ttT p.F293F OC90_uc011lix.1_Silent_p.F293F NM_001080399 NP_001073868 Q02509 OC90_HUMAN Homo sapiens otoconin 90 (OC90), mRNA. 309 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity p.R292Q(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) CCAGGTGCAGGAAGGTGAATC 0.547000 86 14 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227942739 227942739 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr2:227942739G>A uc021vxr.1 - 23 1959 c.1858C>T c.(1858-1860)Ccc>Tcc p.P620S COL4A4_uc021vxs.1_Missense_Mutation_p.P620S NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 620 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding p.G619D(1) breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 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) TTGCCTGGGGGGCCCAGAGGT 0.587000 24 7 0 0 1 0 0 HSD17B13 345275 broad.mit.edu 37 4 88234997 88234997 + Missense_Mutation SNP A G G TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr4:88234997A>G uc003hqo.2 - 4 736 c.673T>C c.(673-675)Ttc>Ctc p.F225L HSD17B13_uc010ikk.2_Missense_Mutation_p.F189L NM_178135 NP_835236 Q7Z5P4 DHB13_HUMAN Homo sapiens hydroxysteroid (17-beta) dehydrogenase 13 (HSD17B13), transcript variant A, mRNA. 225 extracellular region binding|oxidoreductase activity endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 8 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.000308) TTTTTGGTGAACCCAGTATTC 0.403000 48 10 0 0 1 0 0 NEK10 152110 broad.mit.edu 37 3 27326100 27326100 + Silent SNP T G G TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr3:27326100T>G uc003cdt.2 - 22 2281 c.2007A>C c.(2005-2007)gtA>gtC p.V669V NEK10_uc003cds.1_Silent_p.V66V NM_199347 NP_955379 Q6ZWH5 NEK10_HUMAN Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA. 669 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TACTAACGGTTACTTTGTCCT 0.378000 75 6 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597142 136597142 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr6:136597142G>A uc003qgx.1 - 4 1774 c.1521C>T c.(1519-1521)gaC>gaT p.D507D BCLAF1_uc003qgy.1_Silent_p.D505D|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Silent_p.D505D|BCLAF1_uc003qgw.1_Intron NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA. 507 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) AATCAAAGAGGTCTTTGAGCT 0.398000 225 18 0 0 1 0 0 NISCH 11188 broad.mit.edu 37 3 52507758 52507758 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr3:52507758C>T uc003ded.4 + 6 812 c.678C>T c.(676-678)caC>caT p.H226H NISCH_uc003dec.1_Silent_p.H226H NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN Homo sapiens nischarin (NISCH), mRNA. 226 Necessary for homooligomerization and targeting to endosomes. apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) AGATAAGTCACTGTGATGCTA 0.512000 25 5 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215890426 215890426 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr2:215890426G>A uc002vew.3 - 10 1478 c.1258C>T c.(1258-1260)Cct>Tct p.P420S ABCA12_uc002vev.3_Missense_Mutation_p.P102S|ABCA12_uc010zjn.2_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 420 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GGAACTGGAGGAAAGTAATCT 0.299000 52 9 0 0 1 0 0 OR2L3 391192 broad.mit.edu 37 1 248224888 248224888 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:248224888G>A uc001idx.1 + 0 905 c.905G>A c.(904-906)cGa>cAa p.R302Q OR2L13_uc001ids.3_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA. 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GCCCTGACACGAGTGAGTCAG 0.473000 69 14 0 0 1 0 0 NPLOC4 55666 broad.mit.edu 37 17 79571669 79571670 + Missense_Mutation DNP GG CA CA TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr17:79571669_79571670GG>CA uc002kau.3 - 7 920_921 c.738_739CC>TG c.(736-741)aaccag>aaTGag p.Q247E NPLOC4_uc002kat.4_Missense_Mutation_p.Q247E|NPLOC4_uc010wur.1_Missense_Mutation_p.Q86E NM_017921 NP_060391 Q8TAT6 NPL4_HUMAN Homo sapiens nuclear protein localization 4 homolog (S. cerevisiae) (NPLOC4), mRNA. 247 ER-associated protein catabolic process|Golgi organization|cellular membrane fusion cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) CCAAAATGCTGGTTCCCTGTCT 0.475000 33 6 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49692834 49692834 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr3:49692834C>T uc003cxe.4 + 4 5959 c.5845C>T c.(5845-5847)Cct>Tct p.P1949S NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 1949 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GGACCCTGAGCCTCCTGAGCC 0.677000 51 6 0 0 1 0 0 CFI 3426 broad.mit.edu 37 4 110662161 110662161 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr4:110662161C>T uc011cft.2 - 13 1872 c.1664G>A c.(1663-1665)gGg>gAg p.G555E CFI_uc003hzq.3_Missense_Mutation_p.G344E|CFI_uc003hzr.4_Missense_Mutation_p.G547E NM_000204 NP_000195 P05156 CFAI_HUMAN Homo sapiens complement factor I (CFI), mRNA. 547 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) ACAGTTTTCCCCCCAACTCAC 0.463000 258 50 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207172265 207172265 + Missense_Mutation SNP G T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr2:207172265G>T uc002vbp.2 + 4 3263 c.3013G>T c.(3013-3015)Ggt>Tgt p.G1005C NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA. 1005 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TTTAGATTCTGGTGTCCCTCA 0.343000 54 11 0.0692343 0.0692343 1 1 0 ERO1LB 56605 broad.mit.edu 37 1 236389792 236389792 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:236389792C>T uc001hxt.3 - 11 1085 c.829G>A c.(829-831)Gga>Aga p.G277R NM_019891 NP_063944 Q86YB8 ERO1B_HUMAN Homo sapiens ERO1-like beta (S. cerevisiae) (ERO1LB), mRNA. 277 electron transport chain|protein thiol-disulfide exchange|transport endoplasmic reticulum membrane flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1) 23 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219) OV - Ovarian serous cystadenocarcinoma(106;0.00162) ATATTAGGTCCCCAACTGGGC 0.358000 68 6 0 0 1 0 0 ASPG 374569 broad.mit.edu 37 14 104570719 104570719 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr14:104570719G>A uc001yop.2 + 7 917 c.832G>A c.(832-834)Gac>Aac p.D278N ASPG_uc001yoo.2_Missense_Mutation_p.D306N|ASPG_uc001yoq.2_Missense_Mutation_p.D278N|ASPG_uc001yor.2_Missense_Mutation_p.D278N NM_001080464 NP_001073933 Q86U10 LPP60_HUMAN Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA. 278 Asparaginase. lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity p.P277P(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 11 CACCAAGCCCGACCTGCTGCA 0.672000 32 8 0 0 1 0 0 ATXN1 6310 broad.mit.edu 37 6 16327921 16327921 + Missense_Mutation SNP C A A rs142039862 by1000genomes TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr6:16327921C>A uc003nbt.3 - 7 1592 c.621G>T c.(619-621)caG>caT p.Q207H ATXN1_uc010jpi.3_Missense_Mutation_p.Q207H|ATXN1_uc010jpj.1_Intron NM_000332 NP_001121636 P54253 ATX1_HUMAN Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA. 207 Poly-Gln. RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association p.Q207H(4) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) gctgatgctgctgctgctgct 0.662000 18 3 0.004672 0.00473874 1 1 0 DSPP 1834 broad.mit.edu 37 4 88533573 88533573 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr4:88533573G>A uc003hqu.3 + 3 355 c.235G>A c.(235-237)Gaa>Aaa p.E79K NM_014208 NP_055023 Q9NZW4 DSPP_HUMAN Homo sapiens dentin sialophosphoprotein (DSPP), mRNA. 79 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) TCACAAGGGAGAAGGGAATGG 0.468000 31 7 0 0 1 0 0 MLXIPL 51085 broad.mit.edu 37 7 73021984 73021984 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr7:73021984C>T uc003tyn.1 - 2 467 c.419G>A c.(418-420)aGc>aAc p.S140N MLXIPL_uc003tyk.1_Missense_Mutation_p.S140N|MLXIPL_uc003tym.1_Missense_Mutation_p.S140N|MLXIPL_uc003tyl.1_Missense_Mutation_p.S140N|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.S140N|MLXIPL_uc003tyq.1_5'Flank NM_032951 NP_116569 Q9NP71 WBS14_HUMAN Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA. 140 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) ACACACGGGGCTCTTCCTCCG 0.672000 OREG0018107 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 4 0 0 1 0 0 RPH3A 22895 broad.mit.edu 37 12 113327860 113327860 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr12:113327860G>A uc010syl.2 + 17 1957 c.1595G>A c.(1594-1596)cGa>cAa p.R532Q RPH3A_uc001ttz.3_Missense_Mutation_p.R532Q|RPH3A_uc001tty.3_Missense_Mutation_p.R528Q|RPH3A_uc009zwe.1_Missense_Mutation_p.R528Q|RPH3A_uc010sym.2_Missense_Mutation_p.R483Q|RPH3A_uc001tua.3_Missense_Mutation_p.R292Q NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA. 532 intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) GGGTCAGCCCGAGGCATGGCC 0.498000 213 16 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 120998597 120998597 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr11:120998597C>T uc010rzo.2 + 7 1911 c.1911C>T c.(1909-1911)ttC>ttT p.F637F NM_005422 NP_005413 O75443 TECTA_HUMAN Homo sapiens tectorin alpha (TECTA), mRNA. 637 TIL 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) ACCAGGGCTTCGTCCTCAGCA 0.657000 83 8 0 0 1 0 0 ABL2 27 broad.mit.edu 37 1 179086514 179086514 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:179086514G>A uc001gmj.4 - 7 1648 c.1361C>T c.(1360-1362)cCa>cTa p.P454L ABL2_uc010pnf.2_Missense_Mutation_p.P454L|ABL2_uc010png.2_Missense_Mutation_p.P433L|ABL2_uc010pnh.2_Missense_Mutation_p.P433L|ABL2_uc009wxe.3_Missense_Mutation_p.P433L|ABL2_uc001gmg.4_Missense_Mutation_p.P439L|ABL2_uc001gmi.4_Missense_Mutation_p.P439L|ABL2_uc010pne.2_Missense_Mutation_p.P418L|ABL2_uc001gmk.3_Missense_Mutation_p.P418L|ABL2_uc009wxf.2_Missense_Mutation_p.P439L NM_007314 NP_009298 P42684 ABL2_HUMAN Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA. 454 Protein kinase. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) AAGACTCTCTGGTGCTGTCCA 0.378000 T ETV6 AML 89 16 0 0 1 0 0 GAL3ST1 9514 broad.mit.edu 37 22 30951822 30951822 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr22:30951822C>T uc003aig.1 - 3 530 c.390G>A c.(388-390)cgG>cgA p.R130R GAL3ST1_uc003aih.1_Silent_p.R130R|GAL3ST1_uc003aii.1_Silent_p.R130R|GAL3ST1_uc010gvz.1_Silent_p.R130R NM_004861 NP_004852 Q99999 G3ST1_HUMAN Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA. 130 protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 AGGCCCCGGGCCGATAGTCCT 0.627000 80 23 0 0 1 0 0 GPR111 222611 broad.mit.edu 37 6 47649925 47649925 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr6:47649925C>T uc010jzj.1 + 5 1631 c.1630C>T c.(1630-1632)Ctc>Ttc p.L544F GPR111_uc003oyy.3_Missense_Mutation_p.L476F NM_153839 NP_722581 Q8IZF7 GP111_HUMAN Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA. 544 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 ACTCCTTATCCTCTATGGAAT 0.453000 45 7 0 0 1 0 0 ZNF205 7755 broad.mit.edu 37 16 3170085 3170085 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr16:3170085C>T uc002cub.3 + 6 1559 c.1424C>T c.(1423-1425)cCc>cTc p.P475L ZNF205_uc002cua.3_Missense_Mutation_p.P475L NM_001042428 NP_003447 O95201 ZN205_HUMAN Homo sapiens zinc finger protein 205 (ZNF205), transcript variant 2, mRNA. 475 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 GGCGAGAAGCCCTACCACTGC 0.667000 118 9 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154090036 154090036 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chrX:154090036G>A uc004fmt.3 - 23 6851 c.6680C>T c.(6679-6681)gCt>gTt p.A2227V F8_uc004fms.3_Missense_Mutation_p.A92V NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 2227 F5/8 type C 2. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding p.A2227D(3)|p.A2227P(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GTGAAGTCGAGCTTTTGAAGG 0.448000 255 21 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51799086 51799086 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr6:51799086G>A uc003pah.1 - 36 6219 c.5943C>T c.(5941-5943)atC>atT p.I1981I PKHD1_uc010jzn.1_Silent_p.I6I|PKHD1_uc003pai.3_Silent_p.I1981I NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 1981 G8 1. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CCCTGAGCTCGATGGGTCCTG 0.522000 OREG0017491 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 73 13 0 0 1 0 0 OR5H15 403274 broad.mit.edu 37 3 97887590 97887590 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr3:97887590G>A uc011bgu.2 + 0 47 c.47G>A c.(46-48)gGa>gAa p.G16E NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA. 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 GTTCTCACAGGATTTTTATAT 0.393000 163 19 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130284021 130284021 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr3:130284021C>T uc010htl.3 + 2 876 c.845C>T c.(844-846)tCa>tTa p.S282L NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 282 Nonhelical region.|VWFA 2. axon guidance|cell adhesion collagen p.S282*(2) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GTGATAAATTCACTGAGCATG 0.438000 143 17 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133805541 133805541 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr11:133805541G>A uc001qgx.4 - 6 1169 c.938C>T c.(937-939)cCc>cTc p.P313L IGSF9B_uc001qgy.1_Missense_Mutation_p.P155L NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA. 313 Ig-like 3. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CGAGGCGGAGGGGGAGCGCCC 0.637000 16 3 0 0 1 0 0 RGS3 5998 broad.mit.edu 37 9 116224472 116224472 + Nonsense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr9:116224472C>T uc004bhq.3 + 3 615 c.406C>T c.(406-408)Cag>Tag p.Q136* RGS3_uc004bhr.3_5'Flank|RGS3_uc004bhs.3_5'Flank NM_144488 NP_652759 P49796 RGS3_HUMAN Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA. 136 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 TGCCAAAGTCCAGGGTGCAGG 0.537000 52 9 0 0 1 0 0 POLA2 23649 broad.mit.edu 37 11 65061712 65061712 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr11:65061712C>T uc001odj.3 + 13 1665 c.1333C>T c.(1333-1335)Ctg>Ttg p.L445L POLA2_uc010rod.1_Silent_p.L237L|POLA2_uc001odk.3_Silent_p.L142L NM_002689 NP_002680 Q14181 DPOA2_HUMAN Homo sapiens polymerase (DNA directed), alpha 2 (70kD subunit) (POLA2), mRNA. 445 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) CTACTCCGATCTGTCTCGAGA 0.577000 255 76 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43411267 43411267 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr19:43411267G>A uc002ovj.1 - 4 1146 c.1047C>T c.(1045-1047)ctC>ctT p.L349L PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Silent_p.L189L|PSG4_uc002ovg.1_Silent_p.L349L NM_002782 NP_002773 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA. 350 Ig-like C2-type 3. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) AGGACAAGTCGAGGTTTTCTC 0.463000 305 20 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32165331 32165331 + Silent SNP T C C TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr6:32165331T>C uc003obb.3 - 26 4936 c.4797A>G c.(4795-4797)gaA>gaG p.E1599E GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_Silent_p.E8E|NOTCH4_uc003oba.3_Silent_p.E259E|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc011dpw.1_Silent_p.E8E NM_004557 NP_004548 Q99466 NOTC4_HUMAN Homo sapiens notch 4 (NOTCH4), mRNA. 1599 Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity p.E1599*(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 CGGACTGTACTTCCCCACAGC 0.577000 42 4 0 0 1 0 0 AUTS2 26053 broad.mit.edu 37 7 70254743 70254743 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr7:70254743C>T uc003tvw.4 + 18 3276 c.2541C>T c.(2539-2541)gtC>gtT p.V847V AUTS2_uc003tvx.4_Silent_p.V823V|AUTS2_uc011keg.2_Silent_p.V299V NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA. 847 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GGGAAAGCGTCGAGAAGAGAC 0.612000 65 12 0 0 1 0 0 SLC24A3 57419 broad.mit.edu 37 20 19677497 19677497 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr20:19677497C>T uc002wrl.3 + 13 1745 c.1548C>T c.(1546-1548)ttC>ttT p.F516F NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA. 516 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity p.T515N(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GGATCACCTTCCTGGCTGCTG 0.587000 75 5 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459975 107459976 + Missense_Mutation DNP GG AA AA rs142520495 TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr2:107459975_107459976GG>AA uc002tdq.3 - 1 577_578 c.458_459CC>TT c.(457-459)ccc>cTT p.P153L ST6GAL2_uc002tdr.3_Missense_Mutation_p.P153L|ST6GAL2_uc002tds.3_Missense_Mutation_p.P153L NM_001142351 NP_115917 Q96JF0 SIAT2_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA. 153 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity p.P153P(2) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CTGGCTCCCCGGGGGAAGGGAA 0.619000 147 31 0 0 1 0 0 CHI3L1 1116 broad.mit.edu 37 1 203148912 203148912 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:203148912C>T uc001gzi.2 - 8 1159 c.988G>A c.(988-990)Gac>Aac p.D330N CHI3L1_uc001gzk.1_Missense_Mutation_p.D66N|CHI3L1_uc001gzj.2_Missense_Mutation_p.D269N|CHI3L1_uc001gzl.3_5'Flank NM_001276 NP_001267 P36222 CH3L1_HUMAN Homo sapiens chitinase 3-like 1 (cartilage glycoprotein-39) (CHI3L1), mRNA. 330 chitin catabolic process extracellular space|proteinaceous extracellular matrix cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1) 18 CTTTCCTGGTCGTCGTATCCT 0.582000 94 13 0 0 1 0 0 RSRC1 51319 broad.mit.edu 37 3 157920993 157920994 + Missense_Mutation DNP GG AA AA TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr3:157920993_157920994GG>AA uc003fbt.3 + 3 564_565 c.453_454GG>AA c.(451-456)aaggat>aaAAat p.D152N RSRC1_uc011bou.1_Intron|RSRC1_uc003fbu.1_Missense_Mutation_p.D152N|RSRC1_uc003fbv.3_Intron NM_016625 NP_057709 Q96IZ7 RSRC1_HUMAN Homo sapiens arginine/serine-rich coiled-coil 1 (RSRC1), mRNA. 152 nucleocytoplasmic transport cytoplasm|nuclear speck protein binding cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 18 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) aaaaggagaaggataaagggaa 0.446000 20 4 0 0 1 0 0 GALNT5 11227 broad.mit.edu 37 2 158142526 158142526 + Splice_Site SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr2:158142526G>A uc002tzg.3 + 3 1877 c.1622_splice c.e3-1 p.D541_splice GALNT5_uc010zci.2_Splice_Site NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA. 541 Catalytic subdomain A. glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 CTCTGATGTAGACTATCTAAA 0.383000 29 3 0 0 1 0 0 OR4S2 219431 broad.mit.edu 37 11 55418674 55418674 + Silent SNP C T T rs139890984 TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr11:55418674C>T uc001nhs.1 + 0 295 c.295C>T c.(295-297)Ctg>Ttg p.L99L NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA. 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) CATGTTGCAACTGTTTGGAGT 0.413000 110 48 0 0 1 0 0 TMC7 79905 broad.mit.edu 37 16 19067983 19067983 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr16:19067983C>T uc002dfp.2 + 13 2121 c.1991C>T c.(1990-1992)tCc>tTc p.S664F TMC7_uc002dfq.3_Missense_Mutation_p.S664F|TMC7_uc010vap.2_Missense_Mutation_p.S554F NM_024847 NP_079123 Q7Z402 TMC7_HUMAN Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA. 664 integral to membrane p.S664S(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 GGTGTCACATCCGAAGCCTTT 0.567000 111 21 0 0 1 0 0 ABP1 26 broad.mit.edu 37 7 150554434 150554434 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr7:150554434C>T uc003why.1 + 2 5094 c.876C>T c.(874-876)ccC>ccT p.P292P ABP1_uc003whz.1_Silent_p.P292P|ABP1_uc003wia.1_Silent_p.P292P NM_001091 NP_001082 P19801 ABP1_HUMAN Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA. 292 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) GGGACTTCCCCAGCCCCATCC 0.697000 24 18 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152382094 152382094 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:152382094G>A uc001ezx.2 - 2 1538 c.1464C>T c.(1462-1464)tcC>tcT p.S488S NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN Homo sapiens cornulin (CRNN), mRNA. 488 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TTCTCAAGTAGGAATACAGCT 0.537000 52 17 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262400 45262400 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr5:45262400C>T uc003jok.3 - 7 2321 c.2296G>A c.(2296-2298)Gaa>Aaa p.E766K NM_021072 NP_066550 O60741 HCN1_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA. 766 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TTGTGCACTTCATTTTTCGGC 0.657000 44 16 0 0 1 0 0 COL28A1 340267 broad.mit.edu 37 7 7571154 7571154 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr7:7571154G>A uc003src.1 - 2 623 c.506C>T c.(505-507)cCa>cTa p.P169L COL28A1_uc011jxe.1_5'UTR NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA. 169 VWFA 1. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TTGAACATCTGGATTCTTTGG 0.413000 65 11 0 0 1 0 0 TRAV20 28663 broad.mit.edu 37 14 22509297 22509297 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr14:22509297G>A uc021rpo.1 + 1 301 c.235G>A c.(235-237)Gag>Aag p.E79K TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc010tmm.2_Intron|TRAV20_uc021rpp.1_Non-coding_Transcript Homo sapiens mRNA for T cell receptor alpha variable 20, partial cds, clone: un 136. GGAAGAAAAGGAGAAAGAAAG 0.468000 17 7 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3241373 3241373 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chrX:3241373C>T uc004crg.4 - 4 2510 c.2353G>A c.(2353-2355)Gat>Aat p.D785N NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 785 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GCTAAAATATCAGCCCAGCGC 0.448000 111 15 0 0 1 0 0 IPO4 79711 broad.mit.edu 37 14 24655568 24655568 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr14:24655568G>A uc001wmv.1 - 9 1951 c.930C>T c.(928-930)ccC>ccT p.P310P IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Silent_p.P174P|IPO4_uc001wmy.1_Silent_p.P174P|IPO4_uc001wmz.2_Silent_p.P310P NM_024658 NP_078934 Q8TEX9 IPO4_HUMAN Homo sapiens importin 4 (IPO4), mRNA. 310 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1) 33 GBM - Glioblastoma multiforme(265;0.0087) CCTGGTCCTCGGGATCCAACT 0.562000 182 45 0 0 1 0 0 SLC13A3 64849 broad.mit.edu 37 20 45194949 45194949 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr20:45194949G>A uc002xsf.2 - 10 1453 c.1413C>T c.(1411-1413)atC>atT p.I471I SLC13A3_uc010ghn.2_Silent_p.I440I|SLC13A3_uc010zxx.2_Silent_p.I373I|SLC13A3_uc010zxw.2_Silent_p.I421I|SLC13A3_uc002xsg.2_Silent_p.I424I|SLC13A3_uc010gho.2_Silent_p.I389I|SLC13A3_uc002xse.2_5'Flank|SLC13A3_uc010ghm.2_Silent_p.I58I|SLC13A3_uc010zxv.2_Silent_p.I56I NM_022829 NP_073740 Q8WWT9 S13A3_HUMAN Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA. 471 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) TGACCACAGTGATGAGCAGCA 0.607000 151 20 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67681825 67681825 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr16:67681825G>A uc002etn.3 + 12 1155 c.1035G>A c.(1033-1035)ggG>ggA p.G345G RLTPR_uc010cel.1_Silent_p.G345G|RLTPR_uc010vjr.2_Silent_p.G345G NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA. 345 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) ACCTTTCTGGGAATCCTGGGG 0.662000 22 8 0 0 1 0 0 LRG1 116844 broad.mit.edu 37 19 4538673 4538673 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr19:4538673G>A uc002mau.3 - 1 334 c.323C>T c.(322-324)tCg>tTg p.S108L PLIN5_uc002mat.1_Intron NM_052972 NP_443204 P02750 A2GL_HUMAN Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA. 108 extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) GAATTCGGGCGAGAGGCTTTC 0.637000 36 10 0 0 1 0 0 DAAM1 23002 broad.mit.edu 37 14 59789753 59789753 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr14:59789753G>A uc001xdz.1 + 5 709 c.584G>A c.(583-585)cGg>cAg p.R195Q DAAM1_uc001xea.1_Missense_Mutation_p.R195Q|DAAM1_uc001xeb.1_Missense_Mutation_p.R195Q NM_014992 NP_055807 Q9Y4D1 DAAM1_HUMAN Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA. 195 GBD/FH3. actin cytoskeleton organization cytoplasm|plasma membrane Rho GTPase binding|actin binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) TCTCAAGGCCGGGCTCACGTC 0.458000 35 5 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130922939 130922939 + Missense_Mutation SNP C A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr12:130922939C>A uc001uil.2 - 8 1792 c.1576G>T c.(1576-1578)Ggc>Tgc p.G526C RIMBP2_uc001uim.3_Missense_Mutation_p.G434C NM_015347 NP_056162 O15034 RIMB2_HUMAN Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA. 526 Fibronectin type-III 3. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) ACGCCGTAGCCGGTAACGTTT 0.637000 39 5 3.59834e-05 3.70264e-05 1 1 0 CCDC60 160777 broad.mit.edu 37 12 119916930 119916930 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr12:119916930G>A uc001txe.3 + 3 838 c.373G>A c.(373-375)Gga>Aga p.G125R AF086288_uc001txf.3_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA. 125 p.G125E(1) endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) GAAGACACTGGGAGCTAGAGT 0.488000 40 10 0 0 1 0 0 TMC8 147138 broad.mit.edu 37 17 76134659 76134659 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr17:76134659C>T uc002jup.2 + 13 2051 c.1669C>T c.(1669-1671)Cac>Tac p.H557Y TMC8_uc002juq.2_Missense_Mutation_p.H334Y|TMC8_uc002jur.1_Silent_p.S6S NM_152468 NP_689681 Q8IU68 TMC8_HUMAN Homo sapiens transmembrane channel-like 8 (TMC8), mRNA. 557 endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) CGCCAGCATCCACTCCTCCTG 0.667000 133 19 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86305050 86305050 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr2:86305050C>T uc002sqs.3 - 10 1691 c.1312G>A c.(1312-1314)Gac>Aac p.D438N NM_015425 NP_056240 O95602 RPA1_HUMAN Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA. 438 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 GCAGCGTAGTCCACTCGCTTT 0.448000 136 9 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857436 9857436 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr16:9857436C>T uc010uym.2 - 13 4275 c.3965G>A c.(3964-3966)gGa>gAa p.G1322E GRIN2A_uc002czo.4_Missense_Mutation_p.G1322E|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 1322 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTAAAAATTTCCCTCCAGAAG 0.527000 104 19 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42333083 42333083 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr17:42333083C>T uc002igf.4 - 13 1907 c.1758G>A c.(1756-1758)atG>atA p.M586I SLC4A1_uc021tyc.1_Intron NM_000342 NP_000333 P02730 B3AT_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA. 586 Involved in anion transport.|Membrane (anion exchange). M -> L (in dbSNP:rs5019). bicarbonate transport|cellular ion homeostasis Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) TGCGCAGCATCATGGCAAAGA 0.567000 78 10 0 0 1 0 0 SNX2 6643 broad.mit.edu 37 5 122135408 122135408 + Missense_Mutation SNP T C C TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr5:122135408T>C uc003kte.3 + 2 297 c.248T>C c.(247-249)tTg>tCg p.L83S SNX2_uc011cwn.2_5'UTR NM_003100 NP_003091 O60749 SNX2_HUMAN Homo sapiens sorting nexin 2 (SNX2), mRNA. 83 cell communication|endocytosis|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding|protein transporter activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1) 19 all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109) GAAGTTTCTTTGGACAGCCCT 0.418000 117 19 0 0 1 0 0 DPP3 10072 broad.mit.edu 37 11 66264842 66264842 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr11:66264842C>T uc001oig.1 + 15 1834 c.1772C>T c.(1771-1773)cCc>cTc p.P591L DPP3_uc001oif.1_Missense_Mutation_p.P591L|DPP3_uc010rpe.1_Missense_Mutation_p.P580L|BBS1_uc001oih.1_5'UTR NM_005700 NP_569710 Q9NY33 DPP3_HUMAN Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA. 591 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 ACCATCACTCCCACCACAGGC 0.637000 64 19 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104081987 104081987 + Nonsense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr12:104081987G>A uc001tjw.3 + 27 3225 c.3039G>A c.(3037-3039)tgG>tgA p.W1013* NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 1013 FAS1 3. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TTAACCGATGGATAAATGTGA 0.378000 99 12 0 0 1 0 0 NTF4 4909 broad.mit.edu 37 19 49564986 49564986 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr19:49564986C>T uc002pmf.4 - 1 405 c.269G>A c.(268-270)cGt>cAt p.R90H NTF4_uc010yah.1_Intron|NTF4_uc021uxg.1_Missense_Mutation_p.R90H NM_006179 NP_006170 P34130 NTF4_HUMAN Homo sapiens neurotrophin 4 (NTF4), mRNA. 90 R -> C.|R -> H (in a patient with primary open- angle glaucoma; uncertain pathological significance). adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification endoplasmic reticulum lumen|extracellular region growth factor activity kidney(1)|lung(4)|upper_aerodigestive_tract(1) 6 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) CTCACCCCGACGACTCGCTGG 0.687000 24 3 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28672084 28672084 + Missense_Mutation SNP A T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr18:28672084A>T uc002kwl.4 - 2 788 c.334T>A c.(334-336)Ttt>Att p.F112I DSC2_uc002kwk.4_Missense_Mutation_p.F112I|DSC2_uc010xbo.1_Missense_Mutation_p.F112I NM_024422 NP_077740 Q02487 DSC2_HUMAN Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA. 112 homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TGCTCCAAAAAGACAAATATT 0.323000 80 6 0 0 1 0 0 OR51A2 401667 broad.mit.edu 37 11 4976233 4976233 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr11:4976233C>T uc010qyt.2 - 0 711 c.711G>A c.(709-711)aaG>aaA p.K237K NM_001004748 NP_001004748 Q8NGJ7 O51A2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA. 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TATTGAGAGCCTTAAGCTCCT 0.488000 59 17 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175896782 175896782 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr4:175896782C>T uc003iuc.3 + 4 776 c.106C>T c.(106-108)Cct>Tct p.P36S ADAM29_uc003iud.3_Missense_Mutation_p.P36S|ADAM29_uc010irr.3_Missense_Mutation_p.P36S|ADAM29_uc011cki.2_Missense_Mutation_p.P36S|ADAM29_uc021xuo.1_Missense_Mutation_p.P36S NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA. 36 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TGTGGTGATTCCTGTGAGGAT 0.527000 57 13 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128494173 128494173 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr7:128494173C>T uc003vnz.4 + 39 6839 c.6630C>T c.(6628-6630)tcC>tcT p.S2210S FLNC_uc003voa.4_Silent_p.S2177S NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 2210 Intradomain insert. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TGGAGGAGTCCACCCAGGTCG 0.692000 39 10 0 0 1 0 0 SLC35G2 80723 broad.mit.edu 37 3 136573417 136573417 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr3:136573417G>A uc003erf.4 + 1 329 c.115G>A c.(115-117)Gaa>Aaa p.E39K SLC35G2_uc003erg.4_Missense_Mutation_p.E39K|SLC35G2_uc010hub.3_Missense_Mutation_p.E39K|SLC35G2_uc021xem.1_Missense_Mutation_p.E39K NM_001097600 NP_079522 Q8TBE7 TMM22_HUMAN Homo sapiens transmembrane protein 22 (TMEM22), transcript variant 3, mRNA. 39 Golgi apparatus|integral to membrane TGATGGATATGAAGAAATCAA 0.378000 189 42 0 0 1 0 0 MS4A14 84689 broad.mit.edu 37 11 60184160 60184160 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr11:60184160G>A uc001npj.3 + 4 2284 c.1719G>A c.(1717-1719)ggG>ggA p.G573G MS4A14_uc001npi.3_Silent_p.G461G|MS4A14_uc001npn.3_Silent_p.G311G|MS4A14_uc001npk.3_Silent_p.G556G|MS4A14_uc001npl.3_Silent_p.G311G|MS4A14_uc001npm.3_Silent_p.G311G NM_032597 NP_115986 Q96JA4 M4A14_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA. 573 Gln-rich. integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 AAGCCAAAGGGGAACAATACC 0.448000 58 16 0 0 1 0 0 LRIG1 26018 broad.mit.edu 37 3 66433544 66433544 + Missense_Mutation SNP C A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr3:66433544C>A uc003dmx.3 - 14 2367 c.2353G>T c.(2353-2355)Ggc>Tgc p.G785C SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Missense_Mutation_p.G405C|LRIG1_uc003dmw.3_Missense_Mutation_p.G451C|LRIG1_uc010hnz.3_Missense_Mutation_p.G501C|LRIG1_uc010hoa.3_Missense_Mutation_p.G762C NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA. 785 integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TTCCTGCAGCCTGCTGCGGGC 0.607000 116 10 0.000673444 0.00068897 1 1 0 SLC38A4 55089 broad.mit.edu 37 12 47172354 47172354 + Missense_Mutation SNP T G G TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr12:47172354T>G uc001rpi.2 - 10 1322 c.923A>C c.(922-924)gAc>gCc p.D308A SLC38A4_uc001rpj.2_Missense_Mutation_p.D308A NM_018018 NP_060488 Q969I6 S38A4_HUMAN Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA. 308 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) TACTCCACTGTCATGAAGAGA 0.483000 63 21 0 0 1 0 0 PDPR 55066 broad.mit.edu 37 16 70180091 70180091 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr16:70180091C>T uc002eyf.1 + 15 2879 c.1922C>T c.(1921-1923)gCc>gTc p.A641V CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.A541V|PDPR_uc002eyg.1_Missense_Mutation_p.A369V|PDPR_uc002eyh.2_5'UTR|PDPR_uc010vls.1_5'UTR NM_017990 NP_060460 Q8NCN5 PDPR_HUMAN Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA. 641 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) TTGTCCTATGCCCCTATGACT 0.473000 93 14 0 0 1 0 0 OCLN 100506658 broad.mit.edu 37 5 68805531 68805531 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr5:68805531G>A uc003jwu.3 + 2 1050 c.614G>A c.(613-615)gGa>gAa p.G205E OCLN_uc003jwv.4_Missense_Mutation_p.G205E|OCLN_uc021xzq.1_Intron|OCLN_uc021xzr.1_Non-coding_Transcript|OCLN_uc021xzs.1_Intron|OCLN_uc021xzt.1_Intron NM_002538 NP_001192184 Q16625 OCLN_HUMAN Homo sapiens occludin (OCLN), transcript variant 1, mRNA. 205 MARVEL. cellular component disassembly involved in apoptosis|protein complex assembly integral to membrane|tight junction protein binding|structural molecule activity endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1) 6 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) CAGTCTTCTGGATCTCTATAT 0.403000 194 43 0 0 1 0 0 TTYH2 94015 broad.mit.edu 37 17 72246076 72246076 + Splice_Site SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr17:72246076C>T uc002jkc.3 + 9 962 c.931_splice c.e9-1 p.T311_splice TTYH2_uc010wqw.2_Splice_Site_p.T290_splice|TTYH2_uc002jkd.3_Splice_Site NM_032646 NP_116035 Q9BSA4 TTYH2_HUMAN Homo sapiens tweety homolog 2 (Drosophila) (TTYH2), transcript variant 1, mRNA. 311 chloride channel complex|plasma membrane chloride channel activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1) 36 CTGGCTCAGACCCTGACCACC 0.652000 114 14 0 0 1 0 0 TAS2R13 50838 broad.mit.edu 37 12 11061571 11061571 + Silent SNP G T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr12:11061571G>T uc001qzg.1 - 0 591 c.327C>A c.(325-327)ctC>ctA p.L109L PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron NM_023920 NP_076409 Q9NYV9 T2R13_HUMAN Homo sapiens taste receptor, type 2, member 13 (TAS2R13), mRNA. 109 sensory perception of taste integral to membrane taste receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 TCGCTATTTTGAGCAAATAAA 0.358000 43 10 0.00621372 0.00628453 1 1 0 ST14 6768 broad.mit.edu 37 11 130078485 130078485 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr11:130078485C>T uc001qfw.3 + 16 2368 c.2175C>T c.(2173-2175)tcC>tcT p.S725S NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA. 725 Peptidase S1. proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) AGTACAGCTCCATGGTGCGGC 0.612000 39 6 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83839879 83839879 + Silent SNP T G G TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr6:83839879T>G uc011dyy.2 + 16 2612 c.2352T>G c.(2350-2352)acT>acG p.T784T DOPEY1_uc003pjs.1_Silent_p.T793T|DOPEY1_uc010kbl.1_Silent_p.T784T NM_001199942 NP_001186871 Q5JWR5 DOP1_HUMAN Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA. 793 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) GGCTCCAGACTCTGATGAATG 0.453000 41 15 0 0 1 0 0 KIDINS220 57498 broad.mit.edu 37 2 8871768 8871768 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr2:8871768G>A uc002qzc.2 - 29 4580 c.4398C>T c.(4396-4398)tcC>tcT p.S1466S KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Silent_p.S1367S|KIDINS220_uc002qzb.2_Silent_p.S320S NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA. 1466 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CATCGTTGGTGGAAACCCCTG 0.458000 91 12 0 0 1 0 0 SV2A 9900 broad.mit.edu 37 1 149878224 149878224 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:149878224C>T uc001etg.3 - 10 2354 c.1863G>A c.(1861-1863)aaG>aaA p.K621K SV2A_uc009wlk.3_Silent_p.K73K|SV2A_uc001eth.2_Silent_p.K621K NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA. 621 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) GCCTGCCGATCTTGTCCATGA 0.577000 52 6 0 0 1 0 0 SMARCD2 6603 broad.mit.edu 37 17 61910505 61910505 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr17:61910505G>A uc010deb.1 - 11 1783 c.1466C>T c.(1465-1467)cCt>cTt p.P489L SMARCD2_uc010wpt.1_Missense_Mutation_p.P441L|SMARCD2_uc010dea.1_Missense_Mutation_p.P414L NM_001098426 NP_001091896 Q92925 SMRD2_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 (SMARCD2), mRNA. 489 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1) 8 CTCCTCCTCAGGATTTCCAAT 0.557000 16 6 0 0 1 0 0 PRPS1 5631 broad.mit.edu 37 X 106888463 106888463 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chrX:106888463G>A uc004ene.4 + 4 792 c.587G>A c.(586-588)cGg>cAg p.R196Q PRPS1_uc011msj.2_5'UTR|PRPS1_uc010npg.3_Missense_Mutation_p.R163Q NM_002764 NP_002755 P60891 PRPS1_HUMAN Homo sapiens phosphoribosyl pyrophosphate synthetase 1 (PRPS1), transcript variant 1, mRNA. 196 5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process cytosol ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 23 CACAAAGAACGGAAGAAGGCC 0.498000 245 24 0 0 1 0 0 TNKS2 80351 broad.mit.edu 37 10 93610975 93610975 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr10:93610975C>T uc001khp.3 + 20 2994 c.2697C>T c.(2695-2697)atC>atT p.I899I NM_025235 NP_079511 Q9H2K2 TNKS2_HUMAN Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA. 899 SAM. Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 48 Colorectal(252;0.162) TTTGTAAGATCACTTTGGATG 0.368000 52 11 0 0 1 0 0 OR2H1 26716 broad.mit.edu 37 6 29430268 29430268 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr6:29430268C>T uc003nmi.3 + 2 1165 c.722C>T c.(721-723)tCc>tTc p.S241F OR2H1_uc003nmj.1_Missense_Mutation_p.S241F|OR2H1_uc010jri.2_Missense_Mutation_p.S163F|OR2H1_uc021ytr.1_Missense_Mutation_p.S241F NM_030883 NP_112145 Q9GZK4 OR2H1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA. 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 ACCTGCTCCTCCCATCTCACT 0.552000 144 14 0 0 1 0 0 MGAT5 4249 broad.mit.edu 37 2 135076304 135076304 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr2:135076304C>T uc002ttw.4 + 3 712 c.567C>T c.(565-567)ctC>ctT p.L189L NM_002410 NP_002401 Q09328 MGT5A_HUMAN Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA. 189 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity p.L189L(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) TTATTTACCTCAGTGAGGTGA 0.458000 104 12 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106780751 106780751 + RNA SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr14:106780751G>A uc021ser.1 - 655 c.17943C>T Parts of antibodies, mostly variable regions. GCAGGTGAGGGACAGGGTGTC 0.622000 69 16 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13737583 13737583 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr5:13737583G>A uc003jfd.2 - 65 11275 c.11233C>T c.(11233-11235)Cat>Tat p.H3745Y DNAH5_uc003jfc.2_Intron NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3745 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCCATCAGATGAGTTCTTTCT 0.373000 Kartagener syndrome 64 6 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7760719 7760719 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr16:7760719G>A uc002cys.2 + 15 2154 c.1166G>A c.(1165-1167)gGg>gAg p.G389E RBFOX1_uc002cyt.2_Missense_Mutation_p.G362E|RBFOX1_uc010uyb.1_Missense_Mutation_p.G389E|RBFOX1_uc002cyw.2_3'UTR|RBFOX1_uc002cyy.2_Missense_Mutation_p.G410E|RBFOX1_uc002cyx.2_Missense_Mutation_p.G384E|RBFOX1_uc010uyc.1_Missense_Mutation_p.G383E NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA. 389 RNA splicing|RNA transport|mRNA processing nucleus|trans-Golgi network RNA binding|nucleotide binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 ATATACCGAGGGGGATACAAC 0.438000 92 43 0 0 1 0 0 GPR35 2859 broad.mit.edu 37 2 241569895 241569895 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr2:241569895C>T uc010fzi.2 + 5 1491 c.619C>T c.(619-621)Ccg>Tcg p.P207S GPR35_uc010fzh.2_Missense_Mutation_p.P207S|GPR35_uc021vze.1_Missense_Mutation_p.P176S|GPR35_uc002vzs.2_Missense_Mutation_p.P176S NM_001195381 NP_001182310 Q9HC97 GPR35_HUMAN Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA. 176 integral to plasma membrane G-protein coupled receptor activity NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 17 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031) CATGGCGTTCCCGCTGCTGGG 0.662000 60 8 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166848606 166848606 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr2:166848606C>T uc002udo.4 - 27 5406 c.5179G>A c.(5179-5181)Gat>Aat p.D1727N SCN1A_uc010fpk.3_Missense_Mutation_p.D1699N|SCN1A_uc021vsb.1_Missense_Mutation_p.D1716N NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 1727 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AGCAATCCATCCCAGCCAGCA 0.473000 211 25 0 0 1 0 0 RBM33 155435 broad.mit.edu 37 7 155534523 155534523 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr7:155534523C>T uc010lqk.1 + 12 2428 c.2060C>T c.(2059-2061)tCt>tTt p.S687F RBM33_uc011kvv.1_Missense_Mutation_p.S496F NM_053043 NP_444271 Q96EV2 RBM33_HUMAN Homo sapiens RNA binding motif protein 33 (RBM33), mRNA. 687 RNA binding|nucleotide binding breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) AATACAACTTCTCAGAATGTA 0.398000 108 19 0 0 1 0 0 TERT 7015 broad.mit.edu 37 5 1254494 1254494 + Nonsense_Mutation SNP G C C TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr5:1254494G>C uc003jcb.1 - 14 3342 c.3284C>G c.(3283-3285)tCa>tGa p.S1095* TERT_uc003jbz.1_Nonsense_Mutation_p.S291*|TERT_uc003jcc.1_Nonsense_Mutation_p.S1032*|TERT_uc003jca.1_Nonsense_Mutation_p.S1083*|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript NM_198253 NP_937983 O14746 TERT_HUMAN Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA. 1095 CTE. DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase PML body|cytoplasm|nucleolus|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity p.K1094K(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TGTCCTGAGTGACCCCAGGAG 0.667000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 89 6 0 0 1 0 0 FAM5C 339479 broad.mit.edu 37 1 190195433 190195433 + Missense_Mutation SNP A C C TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:190195433A>C uc001gse.1 - 5 972 c.740T>G c.(739-741)cTc>cGc p.L247R FAM5C_uc010pot.1_Missense_Mutation_p.L145R NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 247 extracellular region p.L247F(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) ATAGTCTGGGAGAAGTACTTG 0.328000 32 12 0 0 1 0 0 MUT 4594 broad.mit.edu 37 6 49425443 49425443 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr6:49425443G>A uc003ozg.4 - 2 979 c.714C>T c.(712-714)tcC>tcT p.S238S NM_000255 NP_000246 P22033 MUTA_HUMAN Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA. 238 fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 30 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TAATTTTCATGGATGGTTCTG 0.313000 46 12 0 0 1 0 0 C15orf23 90417 broad.mit.edu 37 15 40675068 40675068 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr15:40675068G>A uc001zll.3 + 0 147 c.32G>A c.(31-33)aGa>aAa p.R11K C15orf23_uc001zlo.3_Missense_Mutation_p.R11K|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Missense_Mutation_p.R11K NM_033286 NP_150628 Q9Y448 T4AF1_HUMAN Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA. 11 nucleus protein binding central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 14 all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798) CCCCTGGACAGAGTTTTCCGT 0.592000 29 4 0 0 1 0 0 MCM2 4171 broad.mit.edu 37 3 127325638 127325638 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr3:127325638C>T uc003ejp.3 + 5 1136 c.1079C>T c.(1078-1080)cCc>cTc p.P360L MCM2_uc011bkm.2_Missense_Mutation_p.P230L|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Missense_Mutation_p.P244L NM_004526 NP_004517 P49736 MCM2_HUMAN Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA. 360 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex|chromatin ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 TCGGCCGGCCCCTTTGAGGTC 0.582000 71 7 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152419208 152419208 + Nonsense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr2:152419208G>A uc021vrb.1 - 90 13734 c.13705C>T c.(13705-13707)Cga>Tga p.R4569* NEB_uc002txr.3_Nonsense_Mutation_p.R1035*|NEB_uc002txu.3_Nonsense_Mutation_p.R6270*|NEB_uc021vrc.1_Nonsense_Mutation_p.R6270*|NEB_uc010fnx.3_Nonsense_Mutation_p.R4557*|NEB_uc021vrd.1_Nonsense_Mutation_p.R4569* NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 4569 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) AAATAGTGTCGATACTCCAGG 0.463000 21 4 0 0 1 0 0 DOLPP1 57171 broad.mit.edu 37 9 131847367 131847367 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr9:131847367G>A uc004bxc.3 + 2 271 c.243G>A c.(241-243)caG>caA p.Q81Q DOLPP1_uc004bxd.3_Silent_p.Q81Q|DOLPP1_uc004bxe.3_Intron NM_020438 NP_065171 Q86YN1 DOPP1_HUMAN Homo sapiens dolichyl pyrophosphate phosphatase 1 (DOLPP1), transcript variant 1, mRNA. 81 dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane dolichyldiphosphatase activity endometrium(3)|kidney(2)|lung(7)|skin(1) 13 ACGTCATCCAGGAGCCACGGC 0.642000 45 9 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128842438 128842438 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr11:128842438G>A uc009zcp.3 - 20 3921 c.3921C>T c.(3919-3921)ccC>ccT p.P1307P ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Silent_p.P266P|ARHGAP32_uc001qez.3_Silent_p.P958P NM_001142685 NP_055530 A7KAX9 RHG32_HUMAN Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA. 1307 Poly-Pro. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 AAGGCGGAGGGGGAAGGGGAC 0.542000 108 25 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23065889 23065889 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr20:23065889C>T uc002wsv.3 - 0 1089 c.941G>A c.(940-942)gGg>gAg p.G314E NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN Homo sapiens CD93 molecule (CD93), mRNA. 314 EGF-like 2. cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GCACGTGGCCCCCCCACGACA 0.642000 70 25 0 0 1 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21329737 21329737 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr12:21329737C>T uc001req.4 + 4 491 c.387C>T c.(385-387)atC>atT p.I129I NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA. 129 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) AAACTAATATCAATTCATCAG 0.299000 74 5 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4919931 4919931 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr12:4919931G>A uc001qng.3 + 0 1590 c.724G>A c.(724-726)Gaa>Aaa p.E242K KCNA6_uc021qtr.1_Missense_Mutation_p.E242K NM_002235 NP_002226 P17658 KCNA6_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA. 242 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 CACCCCTGGGGAAATGGGGAC 0.557000 HNSCC(72;0.22) 126 27 0 0 1 0 0 NGEF 25791 broad.mit.edu 37 2 233785062 233785062 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr2:233785062C>T uc002vts.2 - 4 1008 c.760G>A c.(760-762)Gat>Aat p.D254N NGEF_uc010fyg.1_Missense_Mutation_p.D162N|NGEF_uc002vtt.2_Missense_Mutation_p.D162N NM_019850 NP_062824 Q8N5V2 NGEF_HUMAN Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA. 254 Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) TCGGGAAGATCCTGCCAGAGG 0.637000 62 13 0 0 1 0 0 C12orf35 55196 broad.mit.edu 37 12 32136849 32136849 + Missense_Mutation SNP A G G TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr12:32136849A>G uc001rks.3 + 3 3374 c.2960A>G c.(2959-2961)gAa>gGa p.E987G NM_018169 NP_060639 Q9HCM1 CL035_HUMAN Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA. 987 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 59 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) AACAATCTTGAAACAAACAGA 0.378000 59 22 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12460320 12460320 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:12460320C>T uc001atv.3 + 60 11858 c.11717C>T c.(11716-11718)aCc>aTc p.T3906I VPS13D_uc001atw.3_Missense_Mutation_p.T3881I|VPS13D_uc001atx.3_Missense_Mutation_p.T3093I|VPS13D_uc009vnl.3_Non-coding_Transcript NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 3905 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GTCATCGAGACCGGCCCAGCT 0.552000 49 12 0 0 1 0 0 TSPAN12 23554 broad.mit.edu 37 7 120428827 120428827 + Missense_Mutation SNP C A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr7:120428827C>A uc003vjk.3 - 7 1111 c.737G>T c.(736-738)tGg>tTg p.W246L TSPAN12_uc010lkj.3_Missense_Mutation_p.W119L NM_012338 NP_036470 O95859 TSN12_HUMAN Homo sapiens tetraspanin 12 (TSPAN12), mRNA. 246 angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation integral to plasma membrane|membrane fraction endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1) 10 all_neural(327;0.117) ATACAGAGCCCAGAGCAGAGT 0.478000 118 7 0.0293803 0.0294633 1 1 0 LILRB1 10859 broad.mit.edu 37 19 55144048 55144048 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr19:55144048C>T uc002qgj.3 + 6 1135 c.795C>T c.(793-795)ttC>ttT p.F265F LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.F265F|LILRB1_uc002qgk.3_Silent_p.F265F|LILRB1_uc002qgm.3_Silent_p.F265F|LILRB1_uc010erq.3_Silent_p.F265F|LILRB1_uc010err.3_Non-coding_Transcript NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA. 265 Ig-like C2-type 3. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) AACGTGACTTCCTTCAGCTCG 0.612000 HNSCC(37;0.09) 101 12 0 0 1 0 0 TC2N 123036 broad.mit.edu 37 14 92268634 92268634 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr14:92268634G>A uc001xzu.4 - 3 624 c.433C>T c.(433-435)Cct>Tct p.P145S TC2N_uc001xzt.4_Missense_Mutation_p.P145S|TC2N_uc010auc.3_Missense_Mutation_p.P145S|TC2N_uc001xzv.4_Missense_Mutation_p.P145S NM_001128595 NP_689545 Q8N9U0 TAC2N_HUMAN Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA. 145 nucleus p.P145L(1) breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) GAACGGGGAGGAAAGCGTCGA 0.408000 65 21 0 0 1 0 0 NUP54 53371 broad.mit.edu 37 4 77053728 77053728 + Silent SNP T C C TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr4:77053728T>C uc003hjs.3 - 5 983 c.855A>G c.(853-855)agA>agG p.R285R NUP54_uc010ije.3_Silent_p.R3R|NUP54_uc011cbs.2_Silent_p.R105R|NUP54_uc011cbt.2_Silent_p.R237R|NUP54_uc003hjt.3_Silent_p.R105R NM_017426 NP_059122 Q7Z3B4 NUP54_HUMAN Homo sapiens nucleoporin 54kDa (NUP54), mRNA. 285 9 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleoplasm cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1) 19 AAAGTTCTGTTCTAGTCATAG 0.373000 191 8 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971153 21971153 + Nonsense_Mutation SNP C A A rs121913383 TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr9:21971153C>A uc003zpk.3 - 1 511 c.205G>T c.(205-207)Gag>Tag p.E69* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Nonsense_Mutation_p.E69*|CDKN2A_uc003zpl.3_Missense_Mutation_p.G83V NM_000077 NP_000068 P42771 CD2A1_HUMAN Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA. 69 E -> G (found in some patients with melanoma; partial loss of CDK4 binding).|E -> K (in a bladder tumor).|E -> V (in a lung tumor).|Missing (in melanoma; loss of CDK4 binding). G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence cytosol|nucleus NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.E69*(32)|p.A68T(5)|p.A68V(3)|p.E69V(3)|p.A68A(2)|p.E69K(2)|p.E69Q(2)|p.L64_E69>Q(2)|p.A68fs*3(2)|p.E69fs*51(2)|p.E69fs*77(2)|p.E61fs*49(2)|p.E61_L94del(2)|p.A68E(1)|p.(G67_A68)fs(1)|p.V59fs*45(1)|p.E61fs*50(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.0(1)|p.A68fs*51(1)|p.L63fs*75(1)|p.A68fs*78(1)|p.R122fs*49(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CAGTTGGGCTCCGCGCCGTGG 0.711000 E69*(A375_SKIN)|E69*(CAL27_UPPER_AERODIGESTIVE_TRACT)|E69*(NCIH1975_LUNG)|E69*(SUIT2_PANCREAS) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 16 3 0.00909568 0.0091732 1 1 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143493 61143493 + RNA SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr20:61143493G>A uc021wfy.1 - 0 c.390C>T C20orf166-AS1_uc002ycy.3_Non-coding_Transcript|C20orf166-AS1_uc002ycz.2_Non-coding_Transcript Homo sapiens chromosome 20 open reading frame 200, mRNA (cDNA clone MGC:120891 IMAGE:7939701), complete cds. CGAATCCACGGCTGTGGCGGG 0.652000 44 15 0 0 1 0 0 ADH1C 126 broad.mit.edu 37 4 100264207 100264207 + RNA SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr4:100264207G>A uc021xqi.1 - 5 c.658C>T NM_000669 P00326 ADH1G_HUMAN Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA. ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) TAGACCCTGGGGTGACCTATG 0.428000 182 29 0 0 1 0 0 CCDC144A 9720 broad.mit.edu 37 17 16701577 16701577 + RNA SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr17:16701577C>T uc010cpj.1 + 17 c.4108C>T USP32P1_uc010cpk.1_Non-coding_Transcript|USP32P1_uc010vwq.1_Non-coding_Transcript|USP32P1_uc002gqm.2_Non-coding_Transcript A2RUR9 C144A_HUMAN Homo sapiens ubiquitin specific peptidase 32 pseudogene 1 (USP32P1), non-coding RNA. TAAGTGATTTCAGTTTGTAAA 0.348000 71 6 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 31920444 31920444 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr7:31920444C>T uc003tcm.2 - 2 619 c.158G>A c.(157-159)aGa>aAa p.R53K PDE1C_uc003tcn.1_Missense_Mutation_p.R53K|PDE1C_uc003tco.2_Missense_Mutation_p.R113K|PDE1C_uc003tcr.3_Missense_Mutation_p.R53K|PDE1C_uc003tcs.3_Missense_Mutation_p.R53K NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 53 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) AGCTTCCCCTCTCTCTAATTG 0.328000 111 25 0 0 1 0 0 BACH2 60468 broad.mit.edu 37 6 90660781 90660781 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr6:90660781C>T uc011eab.2 - 6 1918 c.1044G>A c.(1042-1044)acG>acA p.T348T BACH2_uc003pnw.3_Silent_p.T348T|BACH2_uc010kch.3_Silent_p.T348T NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA. 348 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) CCACACTTTTCGTTATGCTGA 0.617000 52 15 0 0 1 0 0 CCDC85A 114800 broad.mit.edu 37 2 56603051 56603051 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr2:56603051C>T uc002rzn.3 + 4 2055 c.1553C>T c.(1552-1554)cCt>cTt p.P518L CCDC85A_uc021vhw.1_Intron NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA. 518 breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CAGCCTGAACCTGTGGTACAT 0.493000 32 3 0 0 1 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41004506 41004506 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr5:41004506C>T uc003jmj.4 - 36 4626 c.4136G>A c.(4135-4137)cGa>cAa p.R1379Q HEATR7B2_uc003jmi.4_Missense_Mutation_p.R934Q NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 1379 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 GCTCACGTCTCGGTCTGTCAG 0.463000 112 23 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37746354 37746354 + Missense_Mutation SNP T C C TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr9:37746354T>C uc004aag.1 + 15 4369 c.4325T>C c.(4324-4326)gTt>gCt p.V1442A FRMPD1_uc004aah.1_Missense_Mutation_p.V1442A NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA. 1442 cytoskeleton|cytosol|plasma membrane p.G1441E(1) NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) TCCTGGGGGGTTGGAAACAAA 0.567000 18 10 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26636642 26636642 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr12:26636642G>A uc001rhg.3 - 41 6418 c.6001C>T c.(6001-6003)Cat>Tat p.H2001Y ITPR2_uc009zjg.1_Missense_Mutation_p.H152Y NM_002223 NP_002214 Q14571 ITPR2_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA. 2001 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 ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TGATTTTCATGGCAAGGGCCC 0.463000 85 13 0 0 1 0 0 ATP2A3 489 broad.mit.edu 37 17 3833720 3833720 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr17:3833720G>A uc002fwy.2 - 17 2792 c.2619C>T c.(2617-2619)ttC>ttT p.F873F ATP2A3_uc010ckn.2_5'UTR|ATP2A3_uc002fwz.2_Silent_p.F873F|ATP2A3_uc002fxa.2_Silent_p.F873F|ATP2A3_uc002fxb.2_Silent_p.F873F|ATP2A3_uc002fxc.2_Silent_p.F873F|ATP2A3_uc002fxd.2_Silent_p.F873F|ATP2A3_uc002fwx.2_Silent_p.F873F NM_174953 NP_777613 Q93084 AT2A3_HUMAN Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA. 873 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) AGCACTTCAGGAAGTTCCTCT 0.642000 22 5 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140166954 140166954 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr5:140166954G>A uc003lhb.2 + 0 1079 c.1079G>A c.(1078-1080)aGa>aAa p.R360K PCDHAC2_uc003lha.2_Missense_Mutation_p.R360K|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R360K NM_018900 NP_061723 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA. 375 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGCCTATCAGAGAGGACGCT 0.517000 71 22 0 0 1 0 0 MST1P2 11209 broad.mit.edu 37 1 16974549 16974549 + RNA SNP C G G TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:16974549C>G uc009vow.2 + 4 c.1359C>G MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Non-coding_Transcript|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA. GGGCTGAGTGCAGCGCCTGCT 0.692000 58 4 0 0 1 0 0 BROX 148362 broad.mit.edu 37 1 222906053 222906053 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:222906053C>T uc001hnq.1 + 12 1628 c.1233C>T c.(1231-1233)tcC>tcT p.S411S BROX_uc010put.1_Silent_p.S379S|BROX_uc010puu.1_3'UTR|BROX_uc010puv.1_Silent_p.S379S|AK094916_uc001hnr.1_Intron|AK025140_uc001hns.1_5'Flank NM_144695 NP_653296 Q5VW32 BROX_HUMAN Homo sapiens BRO1 domain and CAAX motif containing (BROX), mRNA. 411 membrane breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1) 14 GCTACATCTCCTAAAATACAA 0.363000 19 6 0 0 1 0 0 GRHL3 57822 broad.mit.edu 37 1 24669225 24669226 + Missense_Mutation DNP CC TT TT TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:24669225_24669226CC>TT uc021oiw.1 + 9 1478_1479 c.1248_1249CC>TT c.(1246-1251)ttccgg>ttTTgg p.R417W GRHL3_uc001bix.3_Missense_Mutation_p.R417W|GRHL3_uc021oix.1_Missense_Mutation_p.R371W|GRHL3_uc001biy.3_Missense_Mutation_p.R422W|GRHL3_uc001biz.3_Missense_Mutation_p.R324W NM_198174 NP_937817 Q8TE85 GRHL3_HUMAN Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA. 417 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) GGAAGCAGTTCCGGAGGAAGGT 0.624000 107 21 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29679304 29679304 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr17:29679304C>T uc002hgg.3 + 50 7870 c.7487C>T c.(7486-7488)tCt>tTt p.S2496F NF1_uc002hgh.3_Missense_Mutation_p.S2475F|NF1_uc010cso.3_Missense_Mutation_p.S684F|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_Non-coding_Transcript NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 2496 MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CCATGGTCCTCTCCCAAAGGT 0.478000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 57 4 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189587118 189587118 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr3:189587118C>T uc003fry.2 + 8 1224 c.1135C>T c.(1135-1137)Cgt>Tgt p.R379C TP63_uc003frx.2_Missense_Mutation_p.R379C|TP63_uc003frz.2_Missense_Mutation_p.R379C|TP63_uc010hzc.1_Missense_Mutation_p.R379C|TP63_uc003fsa.2_Missense_Mutation_p.R285C|TP63_uc003fsb.2_Missense_Mutation_p.R285C|TP63_uc003fsc.2_Missense_Mutation_p.R285C|TP63_uc003fsd.2_Missense_Mutation_p.R285C|TP63_uc021xir.1_Missense_Mutation_p.R285C|TP63_uc010hzd.1_Missense_Mutation_p.R200C|TP63_uc003fse.1_Missense_Mutation_p.R256C NM_003722 NP_003713 Q9H3D4 P63_HUMAN Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA. 379 Interaction with HIPK2. 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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R379C(2) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) ACCAGCGTTTCGTCAGAACAC 0.363000 HNSCC(45;0.13) 38 8 0 0 1 0 0 TBC1D5 9779 broad.mit.edu 37 3 17279757 17279757 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr3:17279757G>A uc010hev.3 - 17 1750 c.1486C>T c.(1486-1488)Cct>Tct p.P496S TBC1D5_uc010heu.3_Missense_Mutation_p.P83S|TBC1D5_uc003cbf.3_Missense_Mutation_p.P496S|TBC1D5_uc003cbe.3_Missense_Mutation_p.P496S|TBC1D5_uc010hew.1_Missense_Mutation_p.P448S NM_001134381 NP_001127853 Q92609 TBCD5_HUMAN Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA. 496 intracellular Rab GTPase activator activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 36 GTCCTGGTAGGAATTACAACA 0.512000 37 4 0 0 1 0 0 FLJ00278 0 broad.mit.edu 37 15 30848312 30848312 + RNA SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr15:30848312G>A uc010azq.2 - 0 c.299C>T Homo sapiens mRNA for FLJ00278 protein. CCAGCCTGGGGAAGAAGGCTC 0.602000 30 4 0 0 1 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62856286 62856286 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr17:62856286C>T uc002jey.2 - 10 4594 c.3978G>A c.(3976-3978)aaG>aaA p.K1326K LRRC37A3_uc010wqg.1_Silent_p.K444K|LRRC37A3_uc002jex.1_Silent_p.K303K|LRRC37A3_uc010wqf.1_Silent_p.K364K|LRRC37A3_uc010dek.1_Silent_p.K332K|DQ578599_uc021ubv.1_5'Flank NM_199340 NP_955372 O60309 L37A3_HUMAN Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA. 1326 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 TCTTTCTGACCTTTGGACTCT 0.448000 224 37 0 0 1 0 0 MTPAP 55149 broad.mit.edu 37 10 30625816 30625816 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr10:30625816G>A uc001iva.4 - 3 759 c.696C>T c.(694-696)tcC>tcT p.S232S MTPAP_uc001ivb.4_Silent_p.S362S NM_018109 NP_060579 Q9NVV4 PAPD1_HUMAN Homo sapiens mitochondrial poly(A) polymerase (MTPAP), nuclear gene encoding mitochondrial protein, mRNA. 232 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|RNA binding|UTP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 TGTTGACTGAGGAGCCAAAGG 0.438000 190 55 0 0 1 0 0 SCARA3 51435 broad.mit.edu 37 8 27516581 27516581 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr8:27516581C>T uc003xga.1 + 4 1035 c.894C>T c.(892-894)caC>caT p.H298H SCARA3_uc003xgb.1_Silent_p.H298H NM_016240 NP_057324 Q6AZY7 SCAR3_HUMAN Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA. 298 UV protection|response to oxidative stress Golgi membrane|collagen|endoplasmic reticulum membrane|integral to membrane scavenger receptor activity breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 9 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148) AGAGCATGCACGACCTGGTAC 0.567000 61 4 0 0 1 0 0 DHX32 55760 broad.mit.edu 37 10 127541130 127541130 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr10:127541130G>A uc001ljf.1 - 4 1665 c.1174C>T c.(1174-1176)Ctt>Ttt p.L392F BCCIP_uc001ljd.4_Intron|DHX32_uc001lje.1_Missense_Mutation_p.L16F|DHX32_uc001ljg.1_Missense_Mutation_p.L392F|DHX32_uc009yam.1_Missense_Mutation_p.L147F NM_018180 NP_060650 Q7L7V1 DHX32_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 32 (DHX32), mRNA. 392 mitochondrion|nucleus ATP binding|helicase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1) 29 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) GATGAGCCAAGAATCTGCTTG 0.443000 61 16 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55569295 55569295 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr10:55569295C>T uc021pqv.1 - 34 4593 c.4565G>A c.(4564-4566)aGa>aAa p.R1522K PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqw.1_Silent_p.K1508K|PCDH15_uc010qht.2_Silent_p.K1503K|PCDH15_uc021pqx.1_Missense_Mutation_p.R1520K NM_001142770 NP_001136242 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant J, mRNA. 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TTTTAATTTTCTTTGGCTCTT 0.403000 HNSCC(58;0.16) 136 14 0 0 1 0 0 GRXCR2 643226 broad.mit.edu 37 5 145246099 145246099 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr5:145246099C>T uc003lns.1 - 1 529 c.529G>A c.(529-531)Gca>Aca p.A177T NM_001080516 NP_001073985 A6NFK2 GRCR2_HUMAN Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA. 177 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 GTGCTTTCTGCCTCCACCAAA 0.527000 113 10 0 0 1 0 0 ACTN2 88 broad.mit.edu 37 1 236889312 236889312 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:236889312C>T uc001hyf.2 + 4 732 c.528C>T c.(526-528)ttC>ttT p.F176F ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Silent_p.F176F NM_001103 NP_001094 P35609 ACTN2_HUMAN Homo sapiens actinin, alpha 2 (ACTN2), mRNA. 176 Actin-binding.|CH 2. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) TTCAGAACTTCCATACTAGGT 0.473000 77 22 0 0 1 0 0 FNDC7 163479 broad.mit.edu 37 1 109268613 109268613 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:109268613C>T uc001dvx.3 + 5 1098 c.1098C>T c.(1096-1098)ttC>ttT p.F366F FNDC7_uc010ova.2_Silent_p.F133F NM_001144937 NP_001138409 Q5VTL7 FNDC7_HUMAN Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA. 367 Fibronectin type-III 4. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) GTGACATATTCAATTATACCA 0.393000 115 23 0 0 1 0 0 ZCCHC13 389874 broad.mit.edu 37 X 73524565 73524565 + Missense_Mutation SNP G C C TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chrX:73524565G>C uc004ebs.4 + 0 541 c.464G>C c.(463-465)cGg>cCg p.R155P NM_203303 NP_976048 Q8WW36 ZCH13_HUMAN Homo sapiens zinc finger, CCHC domain containing 13 (ZCCHC13), mRNA. 155 nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 8 CTACCGCTGCGGCAAATCCCG 0.532000 47 4 0 0 1 0 0 PLAGL1 5325 broad.mit.edu 37 6 144263749 144263749 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr6:144263749C>T uc003qjv.3 - 2 1470 c.204G>A c.(202-204)gaG>gaA p.E68E PLAGL1_uc003qjx.3_Silent_p.E68E|PLAGL1_uc003qjy.3_Silent_p.E68E|PLAGL1_uc010khl.3_Silent_p.E68E|PLAGL1_uc010khm.3_Silent_p.E68E|PLAGL1_uc003qjz.3_Silent_p.E68E|PLAGL1_uc003qka.3_Silent_p.E68E|PLAGL1_uc003qkb.3_Silent_p.E16E|PLAGL1_uc003qkc.3_Silent_p.E68E|PLAGL1_uc003qkd.3_Silent_p.E16E|PLAGL1_uc003qke.3_Silent_p.E68E|PLAGL1_uc003qkf.3_Silent_p.E68E|PLAGL1_uc003qkg.3_Silent_p.E16E|PLAGL1_uc003qkh.3_Silent_p.E68E|PLAGL1_uc003qki.3_Silent_p.E16E|PLAGL1_uc003qkj.3_Silent_p.E68E|PLAGL1_uc003qkk.3_Silent_p.E16E|PLAGL1_uc003qkl.3_Silent_p.E16E|PLAGL1_uc003qkm.3_Silent_p.E68E|PLAGL1_uc010khn.3_Silent_p.E68E|PLAGL1_uc003qkn.3_Silent_p.E16E|PLAGL1_uc003qko.3_Silent_p.E68E|PLAGL1_uc003qkp.3_Silent_p.E16E|PLAGL1_uc003qjw.3_Silent_p.E16E|PLAGL1_uc021zgj.1_Silent_p.E16E NM_002656 NP_002647 Q9UM63 PLAL1_HUMAN Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 1, mRNA. 68 cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2) 13 OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885) TGAACGTCTTCTCACAGTGAG 0.483000 OREG0017707 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 12 0 0 1 0 0 LRMP 4033 broad.mit.edu 37 12 25256967 25256967 + Nonsense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr12:25256967C>T uc001rgh.3 + 17 2115 c.1021C>T c.(1021-1023)Cga>Tga p.R341* LRMP_uc010sja.2_Nonsense_Mutation_p.R341*|LRMP_uc010sjc.2_Nonsense_Mutation_p.R341*|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_Nonsense_Mutation_p.R288*|LRMP_uc010sjd.2_Nonsense_Mutation_p.R288* NM_006152 NP_006143 Q12912 LRMP_HUMAN Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA. 397 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) AAATAATGATCGATTCAGTAG 0.313000 47 9 0 0 1 0 0 ATAD3C 219293 broad.mit.edu 37 1 1387781 1387781 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:1387781C>T uc001aft.2 + 2 1184 c.189C>T c.(187-189)gcC>gcT p.A63A NM_001039211 NP_001034300 Q5T2N8 ATD3C_HUMAN Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA. 63 ATP binding|nucleoside-triphosphatase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4) 7 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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GATTCCGTGCCTTTGTGACAG 0.587000 80 16 0 0 1 0 0 ANPEP 290 broad.mit.edu 37 15 90346958 90346958 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr15:90346958G>A uc002bop.4 - 7 1649 c.1357C>T c.(1357-1359)Cac>Tac p.H453Y NM_001150 NP_001141 P15144 AMPN_HUMAN Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA. 453 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms ER-Golgi intermediate compartment|cytosol|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GACAGCGGGTGGGAGGAGGCC 0.612000 54 9 0 0 1 0 0 EYA4 2070 broad.mit.edu 37 6 133783544 133783544 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr6:133783544C>T uc011ecs.2 + 7 825 c.509C>T c.(508-510)tCg>tTg p.S170L EYA4_uc011ecq.2_Missense_Mutation_p.S116L|EYA4_uc011ecr.2_Missense_Mutation_p.S116L|EYA4_uc003qec.4_Missense_Mutation_p.S170L|EYA4_uc003qed.4_Missense_Mutation_p.S170L|EYA4_uc003qee.4_Missense_Mutation_p.S147L|BC041459_uc003qef.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA. 170 DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) ACTCAGTATTCGGGGATGCAG 0.473000 96 25 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94669546 94669546 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:94669546C>T uc001dqj.4 - 7 1071 c.702G>A c.(700-702)ttG>ttA p.L234L ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Silent_p.L234L NM_004815 NP_004806 Q52LW3 RHG29_HUMAN Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA. 234 Rho protein signal transduction cytosol Rho GTPase activator activity|metal ion binding NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TAGTGGACTCCAATTCTGAAA 0.348000 33 3 0 0 1 0 0 BEND3 57673 broad.mit.edu 37 6 107392016 107392016 + Missense_Mutation SNP A G G TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr6:107392016A>G uc003prs.2 - 4 1029 c.379T>C c.(379-381)Tac>Cac p.Y127H NM_001080450 NP_001073919 Q5T5X7 BEND3_HUMAN Homo sapiens BEN domain containing 3 (BEND3), mRNA. 127 central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3) 30 GGCTTCTTGTAGGAAGGGGTG 0.587000 74 20 0 0 1 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110462842 110462842 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr11:110462842G>A uc001pkz.1 - 10 1287 c.1002C>T c.(1000-1002)atC>atT p.I334I ARHGAP20_uc001pky.1_Silent_p.I311I|ARHGAP20_uc009yyb.1_Silent_p.I298I|ARHGAP20_uc001pla.1_Silent_p.I298I|ARHGAP20_uc001plb.2_5'Flank NM_020809 NP_065860 Q9P2F6 RHG20_HUMAN Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA. 334 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.I334I(2) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) CCCAGTTTATGATAGATCTTC 0.403000 108 28 0 0 1 0 0 RXFP2 122042 broad.mit.edu 37 13 32356877 32356877 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr13:32356877G>A uc001utt.3 + 10 993 c.922G>A c.(922-924)Gga>Aga p.G308R RXFP2_uc010aba.3_Intron NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA. 308 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) AAAAAATTTAGGAGAACTGTA 0.363000 35 5 0 0 1 0 0 CFHR2 3080 broad.mit.edu 37 1 196920077 196920077 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:196920077G>A uc001gtq.1 + 2 426 c.349G>A c.(349-351)Gga>Aga p.G117R CFHR2_uc001gtr.1_Intron NM_005666 NP_005657 P36980 FHR2_HUMAN Homo sapiens complement factor H-related 2 (CFHR2), mRNA. 117 Sushi 2. extracellular region large_intestine(2)|ovary(1)|skin(3) 6 TTGCAACACAGGATACAGACT 0.403000 64 12 0 0 1 0 0 PHEX 5251 broad.mit.edu 37 X 22231043 22231043 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chrX:22231043G>A uc004dah.3 + 15 1871 c.1668G>A c.(1666-1668)caG>caA p.Q556Q PHEX_uc011mjr.2_Silent_p.Q556Q|PHEX_uc011mjs.2_Silent_p.Q459Q NM_000444 NP_000435 P78562 PHEX_HUMAN Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA. 556 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 GAGAGCTCCAGAAGCCTTTCT 0.398000 102 15 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36597709 36597709 + Missense_Mutation SNP G T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr11:36597709G>T uc021qgb.1 + 0 2855 c.2855G>T c.(2854-2856)aGg>aTg p.R952M RAG1_uc001mwt.3_Intron|RAG1_uc001mwu.4_Missense_Mutation_p.R952M NM_000448 NP_000439 P15918 RAG1_HUMAN Homo sapiens recombination activating gene 1 (RAG1), mRNA. 952 T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) ATTATTGAGAGGGATGGCTCC 0.443000 Familial Hemophagocytic Lymphohistiocytosis 83 7 2.7689e-08 2.88258e-08 1 1 0 FAT2 2196 broad.mit.edu 37 5 150922250 150922250 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr5:150922250C>T uc003lue.4 - 8 8451 c.8438G>A c.(8437-8439)gGg>gAg p.G2813E NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 2813 Cadherin 25. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GACTGAGGTCCCCACTGGCAT 0.507000 89 19 0 0 1 0 0 IARS 3376 broad.mit.edu 37 9 95043142 95043142 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr9:95043142G>A uc004art.1 - 6 888 c.631C>T c.(631-633)Cct>Tct p.P211S IARS_uc004ars.1_Missense_Mutation_p.P56S|IARS_uc004aru.3_Missense_Mutation_p.P211S|IARS_uc010mqr.2_Missense_Mutation_p.P101S|IARS_uc010mqt.2_Intron NM_013417 NP_038203 P41252 SYIC_HUMAN Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA. 211 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) TCTTCCAAAGGGAAAGTTACA 0.363000 32 14 0 0 1 0 0 WBP5 51186 broad.mit.edu 37 X 102612729 102612729 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chrX:102612729C>T uc022cbr.1 + 0 117 c.117C>T c.(115-117)gcC>gcT p.A39A WBP5_uc004eke.3_Silent_p.A39A|WBP5_uc004ekd.3_Silent_p.A39A|WBP5_uc004ekf.3_Silent_p.A39A|WBP5_uc004ekg.3_Silent_p.A39A NM_016303 NP_057387 Q9UHQ7 WPB5_HUMAN Homo sapiens WW domain binding protein 5 (WBP5), transcript variant 1, mRNA. 39 Glu-rich. p.E38K(1) breast(2)|endometrium(2)|large_intestine(2)|ovary(1)|urinary_tract(1) 8 AGGAGGAGGCCAAAGCAAAAG 0.413000 70 27 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103488353 103488354 + Missense_Mutation DNP GG AA AA TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:103488353_103488354GG>AA uc001dum.3 - 7 1543_1544 c.1225_1226CC>TT c.(1225-1227)cct>TTt p.P409F COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.P397F|COL11A1_uc001dun.3_Missense_Mutation_p.P358F|COL11A1_uc009weh.3_Intron NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 397 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTCTTCATTAGGGGGGCTTGTT 0.366000 73 8 0 0 1 0 0 C15orf24 56851 broad.mit.edu 37 15 34382552 34382552 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr15:34382552G>A uc001zhm.3 - 2 474 c.461C>T c.(460-462)tCg>tTg p.S154L NM_020154 NP_064539 Q9NPA0 CO024_HUMAN Homo sapiens chromosome 15 open reading frame 24 (C15orf24), mRNA. 154 cytoplasm|integral to membrane carbohydrate binding|carboxypeptidase activity|purine nucleotide binding large_intestine(1)|lung(5)|skin(1) 7 all_lung(180;1.76e-08) all cancers(64;2.02e-17)|GBM - Glioblastoma multiforme(113;2.15e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252) CCAGCCCCACGATTCCCTTTT 0.388000 65 10 0 0 1 0 0 OR5H6 79295 broad.mit.edu 37 3 97983846 97983846 + Missense_Mutation SNP A C C TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr3:97983846A>C uc003dsi.1 + 0 718 c.718A>C c.(718-720)Aca>Cca p.T240P NM_001005479 NP_001005479 Q8NGV6 OR5H6_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA. 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TATCCTCTTTACAATCTTAGA 0.353000 34 13 0 0 1 0 0 SLC35B4 84912 broad.mit.edu 37 7 133986832 133986832 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr7:133986832G>A uc003vrn.3 - 4 699 c.375C>T c.(373-375)gcC>gcT p.A125A SLC35B4_uc010lmk.3_5'UTR|SLC35B4_uc003vro.4_Silent_p.A125A NM_032826 NP_116215 Q969S0 S35B4_HUMAN Homo sapiens solute carrier family 35, member B4 (SLC35B4), mRNA. 125 Golgi membrane|integral to membrane UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity large_intestine(1)|lung(2)|skin(1)|stomach(1) 5 CAGACACCAGGGCAATGGAGG 0.358000 65 39 0 0 1 0 0 ARHGAP5 394 broad.mit.edu 37 14 32562715 32562715 + Missense_Mutation SNP A C C TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr14:32562715A>C uc001wrl.3 + 1 3079 c.2840A>C c.(2839-2841)aAt>aCt p.N947T ARHGAP5_uc001wrm.3_Missense_Mutation_p.N947T|ARHGAP5_uc001wrn.3_Missense_Mutation_p.N947T|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA. 947 Rho protein signal transduction|cell adhesion cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) ATGATAGAAAATTCTTATTTG 0.328000 51 19 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139380210 139380210 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr8:139380210C>T uc003yuy.3 - 1 188 c.17G>A c.(16-18)gGa>gAa p.G6E FAM135B_uc003yux.3_5'UTR|FAM135B_uc003yuz.3_Non-coding_Transcript NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 6 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CTCAACCGTTCCTTGTATTTC 0.373000 HNSCC(54;0.14) 71 12 0 0 1 0 0 SLAIN1 122060 broad.mit.edu 37 13 78293697 78293697 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr13:78293697C>T uc010thy.1 + 1 208 c.165C>T c.(163-165)acC>acT p.T55T SLAIN1_uc001vkk.2_5'UTR NM_001040153 NP_653196 Q8ND83 SLAI1_HUMAN Homo sapiens SLAIN motif family, member 1 (SLAIN1), transcript variant 1, mRNA. 197 breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0853) AGACGTTCACCTCATCAGAGA 0.428000 60 14 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136566278 136566278 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr2:136566278G>A uc002tuu.1 - 7 3650 c.3639C>T c.(3637-3639)atC>atT p.I1213I NM_002299 NP_002290 P09848 LPH_HUMAN Homo sapiens lactase (LCT), mRNA. 1213 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity p.R1212I(1) breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) TGTGCTGCACGATTCTGGAGT 0.572000 142 17 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109694431 109694431 + Missense_Mutation SNP C A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chrX:109694431C>A uc004eor.2 + 2 832 c.586C>A c.(586-588)Cta>Ata p.L196I RGAG1_uc011msr.1_Missense_Mutation_p.L196I NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA. 196 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 ACCATTAATGCTAGCCCCAGA 0.483000 151 31 6.38683e-12 6.6686e-12 1 1 0 FAM153A 285596 broad.mit.edu 37 5 177163602 177163602 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr5:177163602C>T uc010jkp.1 - 12 832 c.411G>A c.(409-411)ggG>ggA p.G137G FAM153A_uc021yix.1_Intron|FAM153A_uc003mib.1_Non-coding_Transcript|FAM153A_uc003mic.3_Silent_p.G137G NM_173663 NP_775934 Q9UHL3 F153A_HUMAN Homo sapiens family with sequence similarity 153, member A (FAM153A), mRNA. 137 G -> E (in Ref. 3; BAF82207). kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1) 11 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGTCTGGGTCCCCCTCCATCT 0.423000 28 7 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32165333 32165333 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr6:32165333C>T uc003obb.3 - 26 4934 c.4795G>A c.(4795-4797)Gaa>Aaa p.E1599K GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_Missense_Mutation_p.E8K|NOTCH4_uc003oba.3_Missense_Mutation_p.E259K|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc011dpw.1_Missense_Mutation_p.E8K NM_004557 NP_004548 Q99466 NOTC4_HUMAN Homo sapiens notch 4 (NOTCH4), mRNA. 1599 Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity p.E1599*(2) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GACTGTACTTCCCCACAGCAA 0.572000 42 4 0 0 1 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12941867 12941867 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:12941867G>A uc001aun.2 - 2 754 c.683C>T c.(682-684)cCa>cTa p.P228L NM_001009611 NP_001009611 O60810 PRAM4_HUMAN Homo sapiens PRAME family member 4 (PRAMEF4), mRNA. 228 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) 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) GCCCAGGTATGGGGTAAACTG 0.488000 255 65 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121409694 121409694 + Silent SNP A G G TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr3:121409694A>G uc010hrc.3 - 13 8643 c.8517T>C c.(8515-8517)ttT>ttC p.F2839F GOLGB1_uc003eei.4_Silent_p.F2834F|GOLGB1_uc003eej.4_Silent_p.F2800F|GOLGB1_uc021xcy.1_Silent_p.F2759F NM_004487 NP_004478 Q14789 GOGB1_HUMAN Homo sapiens golgin B1 (GOLGB1), mRNA. 2834 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TAGCCTTGGAAAAGGACTGCA 0.458000 43 11 0 0 1 0 0 TMEM101 84336 broad.mit.edu 37 17 42092295 42092295 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr17:42092295C>T uc002ieu.3 - 0 51 c.26G>A c.(25-27)cGg>cAg p.R9Q TMEM101_uc010wis.2_Intron NM_032376 NP_115752 Q96IK0 TM101_HUMAN Homo sapiens transmembrane protein 101 (TMEM101), mRNA. 9 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane signal transducer activity p.R9L(2) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 Breast(137;0.0264)|Prostate(33;0.0861) BRCA - Breast invasive adenocarcinoma(366;0.113) CAACATCCACCGTCTCGAACC 0.617000 78 11 0 0 1 0 0 CXorf59 286464 broad.mit.edu 37 X 36083833 36083833 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chrX:36083833G>A uc004ddk.1 + 1 202 c.16G>A c.(16-18)Gat>Aat p.D6N NM_173695 NP_775966 Q8N9S7 CX059_HUMAN Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA. 6 integral to membrane breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2) 34 AATTCATCTGGATAAGCAAAA 0.333000 48 4 0 0 1 0 0 BC063132 0 broad.mit.edu 37 GL000241.1 36803 36803 + RNA SNP G T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chrGL000241.1:36803G>T uc011mgv.2 - 0 c.73C>A Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors. CTTCTGCGCGGAGAGGCTGAA 0.592000 13 3 0.004672 0.00473874 1 1 0 GABRG2 2566 broad.mit.edu 37 5 161520910 161520910 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr5:161520910C>T uc010jjc.3 + 1 542 c.184C>T c.(184-186)Cct>Tct p.P62S GABRG2_uc003lyy.4_Missense_Mutation_p.P62S|GABRG2_uc003lyz.4_Missense_Mutation_p.P62S|GABRG2_uc011dej.2_5'UTR NM_198903 NP_944493 P18507 GBRG2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA. 62 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) 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;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) TCCAAAAGTTCCTGAGGGTGA 0.383000 102 15 0 0 1 0 0 HHIPL1 84439 broad.mit.edu 37 14 100129300 100129300 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr14:100129300C>T uc010avs.3 + 5 1655 c.1590C>T c.(1588-1590)ttC>ttT p.F530F HHIPL1_uc001ygl.1_Silent_p.F530F NM_001127258 NP_001120730 Q96JK4 HIPL1_HUMAN Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA. 530 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2) 15 Melanoma(154;0.128) CCTGTGAGTTCCCAGGCCTCA 0.587000 62 21 0 0 1 0 0 A2M 2 broad.mit.edu 37 12 9264781 9264781 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr12:9264781C>T uc001qvk.1 - 3 570 c.457G>A c.(457-459)Gaa>Aaa p.E153K A2M_uc009zgk.1_Missense_Mutation_p.E3K NM_000014 NP_000005 P01023 A2MG_HUMAN Homo sapiens alpha-2-macroglobulin (A2M), mRNA. 153 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) TGAAAGTTTTCATCCATGGAG 0.403000 50 8 0 0 1 0 0 TEX101 83639 broad.mit.edu 37 19 43920569 43920569 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr19:43920569G>A uc002owk.3 + 6 868 c.307G>A c.(307-309)Ggg>Agg p.G103R TEX101_uc010xwo.2_Missense_Mutation_p.G85R NM_031451 NP_001123483 Q9BY14 TX101_HUMAN Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA. 85 anchored to membrane|plasma membrane large_intestine(1)|lung(12)|ovary(1)|skin(1) 15 Prostate(69;0.0199) CATCCCGGAAGGGGAGGAGGC 0.532000 142 9 0 0 1 0 0 OSGIN2 734 broad.mit.edu 37 8 90937747 90937747 + Missense_Mutation SNP A T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr8:90937747A>T uc003yeh.3 + 5 1897 c.1637A>T c.(1636-1638)gAt>gTt p.D546V OSGIN2_uc003yeg.3_Missense_Mutation_p.D502V NM_001126111 NP_004328 Q9Y236 OSGI2_HUMAN Homo sapiens oxidative stress induced growth inhibitor family member 2 (OSGIN2), transcript variant 1, mRNA. 502 germ cell development|meiosis breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(11;0.0344) GGAGGAGGAGATGGGATAGCT 0.373000 30 10 0 0 1 0 0 LYN 4067 broad.mit.edu 37 8 56860176 56860176 + Splice_Site SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr8:56860176G>A uc003xsk.4 + 4 461 c.179_splice c.e4-1 p.D60_splice LYN_uc003xsl.4_Splice_Site_p.D39_splice NM_002350 NP_002341 P07948 LYN_HUMAN Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA. 60 T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) TTCATCTTTAGATCCAGAGGA 0.468000 73 16 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4949237 4949237 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr16:4949237C>T uc002cyd.1 - 6 845 c.755G>A c.(754-756)cGg>cAg p.R252Q NM_002705 NP_002696 O60437 PEPL_HUMAN Homo sapiens periplakin (PPL), mRNA. 252 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 ATACTGGCGCCGGCGGCTGGG 0.677000 55 4 0 0 1 0 0 GLI1 2735 broad.mit.edu 37 12 57865840 57865840 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr12:57865840C>T uc001snx.3 + 11 3411 c.3317C>T c.(3316-3318)gCc>gTc p.A1106V GLI1_uc021qzi.1_Missense_Mutation_p.A1065V|GLI1_uc009zpq.3_Missense_Mutation_p.A978V NM_005269 NP_001153517 P08151 GLI1_HUMAN Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA. 1106 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) AACTCTAGTGCCTAAAGAGTA 0.512000 48 14 0 0 1 0 0 RASAL2 9462 broad.mit.edu 37 1 178427117 178427117 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:178427117C>T uc001glq.3 + 13 3454 c.2690C>T c.(2689-2691)cCc>cTc p.P897L RASAL2_uc001glr.3_Missense_Mutation_p.P756L|RASAL2_uc009wxc.3_Missense_Mutation_p.P270L NM_170692 NP_733793 Q9UJF2 NGAP_HUMAN Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA. 756 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 CAGAGCACTCCCCAAAGTGCA 0.567000 74 16 0 0 1 0 0 QRICH2 84074 broad.mit.edu 37 17 74300977 74300977 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr17:74300977G>A uc002jrd.1 - 1 262 c.82C>T c.(82-84)Cgg>Tgg p.R28W QRICH2_uc010dgw.1_5'UTR NM_032134 NP_115510 Q9H0J4 QRIC2_HUMAN Homo sapiens glutamine rich 2 (QRICH2), mRNA. 28 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 AATTGCTCCCGATCTTTGAAT 0.537000 186 14 0 0 1 0 0 C1orf127 148345 broad.mit.edu 37 1 11008787 11008787 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:11008787C>T uc010oao.2 - 11 1405 c.1405G>A c.(1405-1407)Gaa>Aaa p.E469K C1orf127_uc001ars.2_Missense_Mutation_p.E304K|C1orf127_uc001arr.2_Missense_Mutation_p.E312K NM_001170754 NP_001164225 B7ZLG7 B7ZLG7_HUMAN Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA. 320 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) ATCCCTGCTTCCCCTGGGGGA 0.647000 80 9 0 0 1 0 0 HNF1A 6927 broad.mit.edu 37 12 121416690 121416690 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr12:121416690G>A uc001tzg.3 + 0 142 c.119G>A c.(118-120)gGa>gAa p.G40E HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Missense_Mutation_p.G40E|HNF1A_uc001tzf.3_Missense_Mutation_p.G40E|HNF1A_uc010szn.2_Missense_Mutation_p.G40E|HNF1A_uc021rfa.1_Missense_Mutation_p.G40E|HNF1A_uc021rfb.1_5'UTR|HNF1A_uc021rfc.1_Non-coding_Transcript NM_000545 NP_000536 P20823 HNF1A_HUMAN Homo sapiens HNF1 homeobox A (HNF1A), mRNA. 40 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.Y36fs*107(1)|p.?(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CTCCTGGCTGGAGAAGGCCCC 0.701000 Hepatic Adenoma, Familial Clustering of 29 3 0 0 1 0 0 SNX5 27131 broad.mit.edu 37 20 17923826 17923826 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr20:17923826G>A uc002wqc.3 - 11 1178 c.1092C>T c.(1090-1092)ttC>ttT p.F364F SNX5_uc002wqb.3_Non-coding_Transcript|SNX5_uc002wqd.3_Silent_p.F364F|SNX5_uc002wqe.3_Silent_p.F259F NM_014426 NP_689413 Q9Y5X3 SNX5_HUMAN Homo sapiens sorting nexin 5 (SNX5), transcript variant 2, mRNA. 364 BAR. cell communication|pinocytosis|protein transport cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle phosphatidylinositol binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 11 TCTTCCGTTTGAAATTTATCA 0.323000 148 43 0 0 1 0 0 GLRA2 2742 broad.mit.edu 37 X 14625357 14625357 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chrX:14625357G>A uc010neq.3 + 5 1442 c.682G>A c.(682-684)Gaa>Aaa p.E228K GLRA2_uc004cwe.4_Missense_Mutation_p.E228K|GLRA2_uc011mio.2_Missense_Mutation_p.E139K|GLRA2_uc010nep.3_Missense_Mutation_p.E228K|GLRA2_uc011mip.2_Missense_Mutation_p.E206K NM_002063 NP_002054 P23416 GLRA2_HUMAN Homo sapiens glycine receptor, alpha 2 (GLRA2), transcript variant 1, mRNA. 228 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) AGAAGAGAAGGAACTTGGCTA 0.398000 102 26 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129571259 129571259 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr6:129571259C>T uc021zfb.1 + 12 1890 c.1785C>T c.(1783-1785)ctC>ctT p.L595L LAMA2_uc003qbn.3_Silent_p.L595L|LAMA2_uc003qbo.3_Silent_p.L595L NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 595 Laminin IV type A 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TCTTGTAGCTCCCAGCAGTAG 0.373000 46 14 0 0 1 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149216095 149216095 + Missense_Mutation SNP G T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr5:149216095G>T uc003lrc.3 + 7 2168 c.2077G>T c.(2077-2079)Gac>Tac p.D693Y PPARGC1B_uc003lrb.2_Missense_Mutation_p.D693Y|PPARGC1B_uc003lrd.3_Missense_Mutation_p.D654Y|PPARGC1B_uc021yfr.1_Missense_Mutation_p.D629Y|PPARGC1B_uc003lre.1_Missense_Mutation_p.D672Y|PPARGC1B_uc003lrf.3_Missense_Mutation_p.D672Y NM_133263 NP_573570 Q86YN6 PRGC2_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA. 693 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TGGAGACCATGACTACTGCCA 0.632000 49 12 5.50884e-06 5.68499e-06 1 1 0 NLGN4X 57502 broad.mit.edu 37 X 5811554 5811554 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chrX:5811554C>T uc010ndi.3 - 6 2330 c.1866G>A c.(1864-1866)acG>acA p.T622T NLGN4X_uc004crp.3_Silent_p.T605T|NLGN4X_uc010ndh.3_Silent_p.T585T|NLGN4X_uc004crq.3_Silent_p.T585T|NLGN4X_uc004crr.3_Silent_p.T585T|NLGN4X_uc010ndj.3_Silent_p.T585T NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA. 585 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity p.T585T(2) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 AAGCCACTTTCGTTGCCCGGT 0.463000 165 16 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179397570 179397570 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr2:179397570C>T uc021vsy.1 - 306 96293 c.96068G>A c.(96067-96069)cGa>cAa p.R32023Q MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R25718Q|TTN_uc021vta.1_Missense_Mutation_p.R25651Q|TTN_uc021vtb.1_Missense_Mutation_p.R25526Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 32950 Ig-like 142. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCGCTTGGGTCGTTTCTGTAC 0.448000 61 7 0 0 1 0 0 TMEFF2 23671 broad.mit.edu 37 2 192818454 192818454 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr2:192818454C>T uc002utc.3 - 8 1373 c.979G>A c.(979-981)Gga>Aga p.G327R NM_016192 NP_057276 Q9UIK5 TEFF2_HUMAN Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA. 327 extracellular region|integral to membrane breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.0835) TGAATTGTTCCAATCACAGCT 0.428000 46 11 0 0 1 0 0 C1QTNF7 114905 broad.mit.edu 37 4 15444102 15444102 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr4:15444102G>A uc003gno.3 + 2 829 c.570G>A c.(568-570)ggG>ggA p.G190G C1QTNF7_uc011bxb.2_Silent_p.G183G|C1QTNF7_uc003gnp.3_Silent_p.G183G NM_001135170 NP_114117 Q9BXJ2 C1QT7_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 7 (C1QTNF7), transcript variant 1, mRNA. 183 C1q. collagen endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 16 CTGCCACAGGGAAGTTCATCT 0.438000 220 54 0 0 1 0 0 SFRP5 6425 broad.mit.edu 37 10 99531173 99531173 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr10:99531173C>T uc001kor.4 - 0 584 c.418G>A c.(418-420)Gag>Aag p.E140K NM_003015 NP_003006 Q5T4F7 SFRP5_HUMAN Homo sapiens secreted frizzled-related protein 5 (SFRP5), mRNA. 140 FZ. apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception cytoplasm|extracellular space|plasma membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding large_intestine(1)|lung(4) 5 Colorectal(252;0.234) Epithelial(162;4.98e-10)|all cancers(201;3.58e-08) CCGTAGGCCTCCATGAGCGGC 0.692000 23 4 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130409481 130409481 + Missense_Mutation SNP G C C TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chrX:130409481G>C uc004ewe.4 - 15 3453 c.3170C>G c.(3169-3171)cCt>cGt p.P1057R IGSF1_uc004ewd.3_Missense_Mutation_p.P1052R|IGSF1_uc022cdv.1_Missense_Mutation_p.P1043R|IGSF1_uc004ewf.2_Missense_Mutation_p.P1032R NM_001170961 NP_001164432 Q8N6C5 IGSF1_HUMAN Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA. 1052 Ig-like C2-type 10. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GGTGTTGCTAGGTTGTATCTT 0.502000 128 15 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 117607464 117607464 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr10:117607464C>T uc001lcg.3 + 27 4366 c.3980C>T c.(3979-3981)cCa>cTa p.P1327L ATRNL1_uc010qsm.2_Missense_Mutation_p.P456L|ATRNL1_uc010qsn.2_Non-coding_Transcript NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN Homo sapiens attractin-like 1 (ATRNL1), mRNA. 1327 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 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) CTTTGTCTACCACGAGGATCA 0.473000 23 4 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107732858 107732858 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr7:107732858C>T uc010ljo.1 - 12 1558 c.1474G>A c.(1474-1476)Gga>Aga p.G492R LAMB4_uc003vey.2_Missense_Mutation_p.G492R NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN Homo sapiens laminin, beta 4 (LAMB4), mRNA. 492 Laminin EGF-like 4. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 CCCCAGTATCCAACCTACAGA 0.428000 35 17 0 0 1 0 0 LOC727896 727896 broad.mit.edu 37 18 2946178 2946178 + Missense_Mutation SNP T A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr18:2946178T>A uc010wyu.2 - 0 444 c.357A>T c.(355-357)ttA>ttT p.L119F LPIN2_uc002klo.3_Intron Homo sapiens cysteine and histidine-rich domain (CHORD) containing 1 pseudogene (LOC727896), non-coding RNA. CAGATATTTTTAATTCCAAAT 0.348000 109 49 0 0 1 0 0 OR51A7 119687 broad.mit.edu 37 11 4929004 4929004 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr11:4929004C>T uc010qyq.2 + 0 405 c.405C>T c.(403-405)atC>atT p.I135I NM_001004749 NP_001004749 Q8NH64 O51A7_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA. 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) ACAGTTCTATCCTCACTAGCA 0.378000 119 9 0 0 1 0 0 C1QTNF1 114897 broad.mit.edu 37 17 77043825 77043825 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr17:77043825C>T uc002jwt.3 + 2 877 c.795C>T c.(793-795)ttC>ttT p.F265F C1QTNF1_uc002jwp.3_Silent_p.F167F|C1QTNF1_uc002jwq.3_Silent_p.F85F|C1QTNF1_uc002jwr.4_Silent_p.F177F|C1QTNF1_uc002jws.3_Silent_p.F167F NM_198594 NP_940996 Q9BXJ1 C1QT1_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 1 (C1QTNF1), mRNA. 167 C1q. collagen breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2) 14 BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201) CGGTGATCTTCGACACGGAGT 0.587000 129 19 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154395223 154395223 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr5:154395223C>T uc010jih.1 + 0 1964 c.1804C>T c.(1804-1806)Ctc>Ttc p.L602F NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN Homo sapiens kinesin family member 4B (KIF4B), mRNA. 602 axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CCACAAACTTCTCCAGGAGCT 0.448000 94 9 0 0 1 0 0 FANCA 2175 broad.mit.edu 37 16 89805562 89805562 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr16:89805562C>T uc002fou.1 - 40 4188 c.4146G>A c.(4144-4146)agG>agA p.R1382R ZNF276_uc010ciq.3_3'UTR|ZNF276_uc002foq.4_3'UTR|ZNF276_uc010cir.3_Non-coding_Transcript|ZNF276_uc002for.4_3'UTR|ZNF276_uc010cis.3_3'UTR|ZNF276_uc002fos.4_3'UTR|ZNF276_uc002fot.4_Non-coding_Transcript|ZNF276_uc010vpm.2_3'UTR|FANCA_uc010vpn.1_Silent_p.R1382R NM_000135 NP_000126 O15360 FANCA_HUMAN Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA. 1382 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) GCTCCAGGCTCCTGCCAGCTG 0.612000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 41 8 0 0 1 0 0 PANX3 116337 broad.mit.edu 37 11 124489453 124489453 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr11:124489453C>T uc001qah.3 + 3 801 c.801C>T c.(799-801)tcC>tcT p.S267S NM_052959 NP_443191 Q96QZ0 PANX3_HUMAN Homo sapiens pannexin 3 (PANX3), mRNA. 267 protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1) 26 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) CATCACTGTCCATTTTCCAGA 0.468000 61 11 0 0 1 0 0 AFF1 4299 broad.mit.edu 37 4 87967994 87967995 + Missense_Mutation DNP CC TT TT TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr4:87967994_87967995CC>TT uc011ccz.2 + 3 582_583 c.307_308CC>TT c.(307-309)cct>TTt p.P103F AFF1_uc011ccx.2_Missense_Mutation_p.P37F|AFF1_uc003hqh.2_Missense_Mutation_p.P103F|AFF1_uc011ccy.2_Missense_Mutation_p.P103F|AFF1_uc003hqj.4_Missense_Mutation_p.P96F|AFF1_uc003hqk.4_Missense_Mutation_p.P96F|AFF1_uc011cda.2_Intron NM_001166693 NP_001160165 P51825 AFF1_HUMAN Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA. 96 nucleus sequence-specific DNA binding transcription factor activity p.P103S(1) breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) TCCTTTAATTCCTGACAAAGGG 0.465000 141 29 0 0 1 0 0 EXT2 2132 broad.mit.edu 37 11 44130763 44130763 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr11:44130763C>T uc001mya.3 + 2 711 c.655C>T c.(655-657)Cac>Tac p.H219Y EXT2_uc010rfo.2_Missense_Mutation_p.H214Y|EXT2_uc009ykt.3_Missense_Mutation_p.H186Y|EXT2_uc001mxz.3_Missense_Mutation_p.H186Y NM_000401 NP_000392 Q93063 EXT2_HUMAN Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA. 186 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 32 AGGTACGAATCACCTGTTGTT 0.438000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Hereditary Multiple Exostoses 47 13 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41791256 41791256 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr8:41791256G>A uc010lxb.3 - 17 5026 c.4482C>T c.(4480-4482)gtC>gtT p.V1494V KAT6A_uc010lxc.3_Silent_p.V1494V|KAT6A_uc003xon.4_Silent_p.V1494V NM_001099412 NP_006757 Q92794 MYST3_HUMAN Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA. 1494 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding TGACCGAACGGACTGACTGGC 0.562000 84 19 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91728141 91728141 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:91728141G>A uc001doa.4 - 36 4082 c.3983C>T c.(3982-3984)tCa>tTa p.S1328L HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Missense_Mutation_p.S1007L|HFM1_uc001dob.4_Missense_Mutation_p.S516L NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA. 1328 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) CTCATGTGATGAAACAAAACt 0.308000 58 16 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62045642 62045642 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr17:62045642G>A uc002jds.1 - 5 854 c.777C>T c.(775-777)ttC>ttT p.F259F NM_000334 NP_000325 P35499 SCN4A_HUMAN Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA. 259 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) CGCTCAGGCAGAAGACAGTGA 0.577000 110 14 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215823761 215823761 + Nonsense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr2:215823761G>A uc002vew.3 - 39 6146 c.5926C>T c.(5926-5928)Caa>Taa p.Q1976* ABCA12_uc002vev.3_Nonsense_Mutation_p.Q1658*|ABCA12_uc010zjn.2_Nonsense_Mutation_p.Q903* NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 1976 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GCTTGTTCTTGGTCTTGCACT 0.378000 136 15 0 0 1 0 0 MST1P9 11223 broad.mit.edu 37 1 17083776 17083776 + Missense_Mutation SNP C A A rs56318124 TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:17083776C>A uc010ock.2 - 14 2021 c.2021G>T c.(2020-2022)cGt>cTt p.R674L CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.R274L Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA. p.R674L(1) breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1) 34 CACAGAGACACGCGTGAAGAC 0.537000 31 3 0.00198382 0.00202372 1 1 0 EP300 2033 broad.mit.edu 37 22 41556650 41556650 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr22:41556650C>T uc003azl.4 + 19 3990 c.3595C>T c.(3595-3597)Cat>Tat p.H1199Y NM_001429 NP_001420 Q09472 EP300_HUMAN Homo sapiens E1A binding protein p300 (EP300), mRNA. 1199 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding p.Y1198_L1243del(2) NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CGACAGGTATCATTTCTGTGA 0.493000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 28 10 0 0 1 0 0 SKAP1 8631 broad.mit.edu 37 17 46214641 46214641 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr17:46214641G>A uc002ini.1 - 11 1149 c.1037C>T c.(1036-1038)cCa>cTa p.P346L SKAP1_uc002inj.1_Missense_Mutation_p.P345L|SKAP1_uc010dbd.1_Missense_Mutation_p.P251L|SKAP1_uc010dbe.1_Missense_Mutation_p.P346L NM_003726 NP_003717 Q86WV1 SKAP1_HUMAN Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA. 346 SH3. T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|plasma membrane SH2 domain binding|antigen binding|protein kinase binding large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1) 18 ATACTCCTTTGGAACAATCCC 0.443000 56 5 0 0 1 0 0 ZNF645 158506 broad.mit.edu 37 X 22291917 22291917 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chrX:22291917C>T uc004dai.2 + 0 888 c.809C>T c.(808-810)tCg>tTg p.S270L NM_152577 NP_689790 Q8N7E2 ZN645_HUMAN Homo sapiens zinc finger protein 645 (ZNF645), mRNA. 270 Pro-rich. intracellular zinc ion binding cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 27 CCAGCGGTATCGTCCCCTCAT 0.428000 229 24 0 0 1 0 0 C4orf50 389197 broad.mit.edu 37 4 5960966 5960966 + RNA SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr4:5960966C>T uc003git.2 - 6 c.2265G>A Q6ZRC1 CD050_HUMAN Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772. breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1) 15 AACACAAAATCCCAAAGCCGA 0.438000 28 5 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140508753 140508753 + Missense_Mutation SNP T C C TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr7:140508753T>C uc003vwc.4 - 3 608 c.547A>G c.(547-549)Aaa>Gaa p.K183E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 183 RBD. activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) ATCAGTGCTTTCTTTAGACTG 0.373000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 106 18 0 0 1 0 0 SNTG2 54221 broad.mit.edu 37 2 1204808 1204808 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr2:1204808C>T uc002qwq.3 + 8 740 c.611C>T c.(610-612)tCg>tTg p.S204L SNTG2_uc010ewi.3_Missense_Mutation_p.S77L NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA. 204 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex PDZ domain binding|actin binding p.S204S(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) TCACCTTCCTCGCCCATAGCT 0.582000 64 9 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56499245 56499245 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr19:56499245G>A uc002qmh.3 + 9 3184 c.3113G>A c.(3112-3114)gGa>gAa p.G1038E NLRP8_uc010etg.3_Missense_Mutation_p.G1019E NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 1038 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GACTTCACGGGAAAAAGTGAC 0.512000 52 4 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133981769 133981769 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr8:133981769C>T uc003ytw.3 + 31 5971 c.5930C>T c.(5929-5931)tCc>tTc p.S1977F TG_uc010mdw.3_Missense_Mutation_p.S736F|TG_uc011ljb.2_Missense_Mutation_p.S346F|TG_uc011ljc.2_Missense_Mutation_p.S131F NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 1977 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 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) ATGGGGATATCCATTAGAAAT 0.348000 81 20 0 0 1 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64520837 64520837 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr5:64520837C>T uc003jtp.3 - 16 2919 c.2105G>A c.(2104-2106)aGg>aAg p.R702K ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.R323K NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA. 702 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) TCTATCTTCCCTAGCATCAGA 0.438000 51 6 0 0 1 0 0 EMID2 136227 broad.mit.edu 37 7 101183320 101183320 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr7:101183320G>A uc010lhy.1 + 4 780 c.588G>A c.(586-588)acG>acA p.T196T EMID2_uc003uyo.1_Silent_p.T198T NM_133457 NP_597714 Q96A83 EMID2_HUMAN Homo sapiens EMI domain containing 2 (EMID2), mRNA. 198 collagen breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1) 18 Lung NSC(181;0.215) GAAGGCCCACGGGCCCAGCCG 0.677000 23 7 0 0 1 0 0 BC063132 0 broad.mit.edu 37 GL000241.1 36849 36849 + RNA SNP C G G TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chrGL000241.1:36849C>G uc011mgv.2 - 0 c.27G>C Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors. CGGAGCAGCACCAGGGCGGGG 0.577000 8 3 0 0 1 0 0 CWC25 54883 broad.mit.edu 37 17 36963033 36963033 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr17:36963033G>A uc002hqu.3 - 6 1040 c.887C>T c.(886-888)cCa>cTa p.P296L CWC25_uc010wdv.2_Missense_Mutation_p.P233L|CWC25_uc010wdw.1_Non-coding_Transcript|CWC25_uc010wdx.1_Non-coding_Transcript NM_017748 NP_060218 Q9NXE8 CWC25_HUMAN Homo sapiens CWC25 spliceosome-associated protein homolog (S. cerevisiae) (CWC25), mRNA. 296 central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 14 GCTGGGTCTTGGGGACCGTGA 0.577000 25 7 0 0 1 0 0 RHOV 171177 broad.mit.edu 37 15 41166143 41166143 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr15:41166143C>T uc001znd.3 - 0 345 c.195G>A c.(193-195)ctG>ctA p.L65L NM_133639 NP_598378 Q96L33 RHOV_HUMAN Homo sapiens ras homolog gene family, member V (RHOV), mRNA. 65 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome membrane|plasma membrane GTP binding|metal ion binding central_nervous_system(1)|large_intestine(1) 2 all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163) AGAAGGTGTCCAGCGCAGTGG 0.711000 25 3 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11364957 11364957 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr5:11364957G>A uc003jfa.1 - 7 1368 c.1223C>T c.(1222-1224)cCa>cTa p.P408L CTNND2_uc010itt.2_Missense_Mutation_p.P317L|CTNND2_uc011cmy.1_Missense_Mutation_p.P71L|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_5'UTR NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 408 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 CCGCAACTCTGGGCCCAGGTG 0.557000 55 9 0 0 1 0 0 EDNRA 1909 broad.mit.edu 37 4 148463699 148463699 + Missense_Mutation SNP A G G TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr4:148463699A>G uc003iky.3 + 7 1743 c.1213A>G c.(1213-1215)Atc>Gtc p.I405V EDNRA_uc011cid.2_Missense_Mutation_p.I180V|EDNRA_uc010ipg.2_Missense_Mutation_p.I296V|EDNRA_uc010ipf.1_Non-coding_Transcript NM_001957 NP_001948 P25101 EDNRA_HUMAN Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA. 405 activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1) 17 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) CGGAACAAGCATCCAGTGGAA 0.532000 81 11 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43437838 43437838 + Silent SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr18:43437838C>T uc002lbm.3 - 41 7522 c.7422G>A c.(7420-7422)cgG>cgA p.R2474R EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Silent_p.R1028R|EPG5_uc002lbn.2_Silent_p.R1349R NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA. 2474 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 AAGGCGACTTCCGGCCAAACC 0.488000 82 12 0 0 1 0 0 PTDSS2 81490 broad.mit.edu 37 11 489971 489971 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr11:489971C>T uc001lpj.3 + 10 1380 c.1204C>T c.(1204-1206)Cac>Tac p.H402Y NM_030783 NP_110410 Q9BVG9 PTSS2_HUMAN Homo sapiens phosphatidylserine synthase 2 (PTDSS2), mRNA. 402 integral to membrane autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1) 9 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735) Phosphatidylserine(DB00144) GTACGACCCCCACACGCTCAC 0.677000 16 3 0 0 1 0 0 AHI1 54806 broad.mit.edu 37 6 135644312 135644312 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr6:135644312C>T uc003qgi.3 - 24 3700 c.3316G>A c.(3316-3318)Gtg>Atg p.V1106M AHI1_uc003qgf.3_Non-coding_Transcript|AHI1_uc003qgg.3_Missense_Mutation_p.V556M|AHI1_uc003qgh.3_Missense_Mutation_p.V1106M|AHI1_uc003qgj.3_Missense_Mutation_p.V1106M|AHI1_uc003qgk.4_Intron NM_001134831 NP_060121 Q8N157 AHI1_HUMAN Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA. 1106 SH3. adherens junction|cilium|microtubule basal body NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) TCACTAGCCACATGATTAGCT 0.383000 19 9 0 0 1 0 0 DEGS2 123099 broad.mit.edu 37 14 100615483 100615483 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr14:100615483G>A uc001ygx.2 - 1 735 c.647C>T c.(646-648)tCc>tTc p.S216F NM_206918 NP_996801 Q6QHC5 DEGS2_HUMAN Homo sapiens delta(4)-desaturase, sphingolipid 2 (DEGS2), mRNA. 216 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane sphingosine hydroxylase activity breast(1)|lung(6)|skin(1) 8 Melanoma(154;0.212) GCCCAGGAAGGAGCTGGCCAG 0.647000 76 31 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166946521 166946521 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr4:166946521C>T uc003irh.2 + 8 1743 c.1096C>T c.(1096-1098)Ccc>Tcc p.P366S TLL1_uc021xud.1_Missense_Mutation_p.P366S|TLL1_uc011cjn.2_Missense_Mutation_p.P366S|TLL1_uc011cjo.2_Missense_Mutation_p.P190S NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 366 CUB 1. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TCCAGGATTTCCCAATGGCTA 0.383000 76 6 0 0 1 0 0 HEXIM2 124790 broad.mit.edu 37 17 43246735 43246735 + RNA SNP C A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr17:43246735C>A uc002iik.1 - 1 c.1485G>T HEXIM2_uc002iih.1_Silent_p.P140P|HEXIM2_uc010daf.1_Silent_p.P162P|HEXIM2_uc002iii.1_Silent_p.P140P|HEXIM2_uc002iij.1_Silent_p.P140P Q96MH2 HEXI2_HUMAN Homo sapiens cDNA FLJ39466 fis, clone PROST2012353. negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding endometrium(1)|large_intestine(3)|lung(1) 5 CCGTGGCCCCCTACAACACCA 0.627000 46 10 1.58986e-06 1.64549e-06 1 1 0 SRCIN1 80725 broad.mit.edu 37 17 36705365 36705365 + Missense_Mutation SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr17:36705365G>A uc002hqd.3 - 15 3269 c.3044C>T c.(3043-3045)tCc>tTc p.S1015F SRCIN1_uc002hqf.1_Missense_Mutation_p.S887F|SRCIN1_uc002hqe.2_Missense_Mutation_p.S869F NM_025248 NP_079524 Q9C0H9 SRCN1_HUMAN Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA. 887 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 GCCATGGGAGGAGGGGAAGCT 0.652000 19 5 0 0 1 0 0 EPC1 80314 broad.mit.edu 37 10 32560584 32560584 + Missense_Mutation SNP C T T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr10:32560584C>T uc001iwg.1 - 13 2606 c.2336G>A c.(2335-2337)aGg>aAg p.R779K EPC1_uc001iwi.3_Missense_Mutation_p.R706K|EPC1_uc001iwh.1_Missense_Mutation_p.R756K NM_025209 NP_079485 Q9H2F5 EPC1_HUMAN Homo sapiens enhancer of polycomb homolog 1 (Drosophila) (EPC1), mRNA. 779 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex|nuclear membrane breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1) 24 Prostate(175;0.0199) ACTTAAAGTCCTAGGTATATG 0.438000 167 7 0 0 1 0 0 DNAH12 201625 broad.mit.edu 37 3 57494906 57494906 + Missense_Mutation SNP G C C TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr3:57494906G>C uc003dit.2 - 5 684 c.503C>G c.(502-504)tCg>tGg p.S168W DNAH12_uc003diu.2_Missense_Mutation_p.S168W NM_178504 NP_848599 Q6ZR08 DYH12_HUMAN Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA. 168 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1) 25 ATCTTCAAGCGATTTAACTGG 0.308000 73 18 0 0 1 0 0 KIF17 57576 broad.mit.edu 37 1 21014160 21014160 + Silent SNP G A A TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:21014160G>A uc001bdr.4 - 7 1777 c.1659C>T c.(1657-1659)ttC>ttT p.F553F KIF17_uc001bdp.4_5'Flank|KIF17_uc009vpx.3_Intron|KIF17_uc001bds.4_Silent_p.F553F NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA. 553 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) CAGGCCCAGGGAAAGCCTCGG 0.602000 40 17 0 0 1 0 0 PCSK9 255738 broad.mit.edu 37 1 55505553 55505555 + In_Frame_Del DEL CTG - - rs67610340 TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr1:55505553_55505555delCTG uc001cyf.2 + 0 405_407 c.43_45delCTG c.(43-45)ctgdel p.L23del PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_5'Flank NM_174936 NP_777596 Q8NBP7 PCSK9_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA. 23 L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia). cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding p.P14_L15insL(2) NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 gccgctgccactgctgctgctgc 0.709 --- 3 --- --- 3 --- ZBTB47 92999 broad.mit.edu 37 3 42700747 42700749 + In_Frame_Del DEL GGA - - TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr3:42700747_42700749delGGA uc003clu.2 + 1 1181_1183 c.900_902delGGA c.(898-903)cgggag>cgg p.E307del NM_145166 NP_660149 Q9UFB7 ZBT47_HUMAN Homo sapiens zinc finger and BTB domain containing 47 (ZBTB47), mRNA. 33 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1) 13 KIRC - Kidney renal clear cell carcinoma(284;0.216) gcagtggacgggaggaggaggag 0.626 --- 4 --- --- 2 --- KLF6 1316 broad.mit.edu 37 10 3827192 3827194 + In_Frame_Del DEL GGG - - TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr10:3827192_3827194delGGG uc001iha.3 - 0 280_282 c.13_15delCCC c.(13-15)cccdel p.P5del KLF6_uc010qaj.2_In_Frame_Del_p.P5del|KLF6_uc010qak.2_Non-coding_Transcript|KLF6_uc010qal.2_In_Frame_Del_p.P5del|KLF6_uc001ihb.2_In_Frame_Del_p.P5del NM_001300 NP_001291 Q99612 KLF6_HUMAN Homo sapiens Kruppel-like factor 6 (KLF6), transcript variant A, mRNA. 5 B cell differentiation nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Colorectal(1;0.238) TGCTGCACATGGGGAGCACGTCC 0.690 --- 45 --- --- 7 --- KRT28 162605 broad.mit.edu 37 17 38955735 38955738 + Frame_Shift_Del DEL ATAG - - TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr17:38955735_38955738delATAG uc002hvh.1 - 0 474_477 c.408_411delCTAT c.(406-411)gactatfs p.D136fs NM_181535 NP_853513 Q7Z3Y7 K1C28_HUMAN Homo sapiens keratin 28 (KRT28), mRNA. 136 Linker 1.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) GATATCTGCTATAGTCATGATCAA 0.377 --- 142 --- --- 9 --- TRIM37 4591 broad.mit.edu 37 17 57094671 57094672 + Frame_Shift_Ins INS - GACA GACA TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr17:57094671_57094672insGACA uc002iwy.4 - 19 2815_2816 c.2371_2372insTGTC c.(2371-2373)cagfs p.Q791fs TRIM37_uc002iwz.4_Frame_Shift_Ins_p.Q791fs|TRIM37_uc002ixa.4_Frame_Shift_Ins_p.Q669fs|TRIM37_uc010woc.2_Frame_Shift_Ins_p.Q757fs NM_001005207 NP_056109 O94972 TRI37_HUMAN Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA. 791 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Medulloblastoma(34;0.0922)|all_neural(34;0.101) AGACAGAGTCTGACAGTCTCCC 0.426 Mulibrey Nanism --- 114 --- --- 19 --- FAM210A 125228 broad.mit.edu 37 18 13681830 13681833 + Frame_Shift_Del DEL GGCG - - rs116967198 by1000genomes TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chr18:13681830_13681833delGGCG uc010dlh.3 - 2 676_679 c.244_247delCGCC c.(244-249)cgccatfs p.R82fs FAM210A_uc010dlg.3_Frame_Shift_Del_p.R82fs|FAM210A_uc010dli.3_Frame_Shift_Del_p.R82fs|FAM210A_uc002ksj.4_Frame_Shift_Del_p.R82fs|FAM210A_uc010dlj.3_Intron NM_001098801 NP_689565 Q96ND0 CR019_HUMAN Homo sapiens family with sequence similarity 210, member A (FAM210A), transcript variant 1, mRNA. 82 R -> H (in a breast cancer sample; somatic mutation). integral to membrane p.R82H(2) CCTTGCTTATGGCGAAGGACTCCT 0.490 --- 172 --- --- 9 --- FAM47B 170062 broad.mit.edu 37 X 34962818 34962818 + Frame_Shift_Del DEL C - - TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ea4f39a-cb3c-46e5-8fd1-ad0458adfe62 ae4873d6-5303-4910-b84f-61b6d1be185d g.chrX:34962818delC uc004ddi.2 + 0 1906 c.1870delC c.(1870-1872)cctfs p.P624fs NM_152631 NP_689844 Q8NA70 FA47B_HUMAN Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA. 624 p.P624A(2) breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 TGTTAAGACTCCTATTCAACG 0.398 --- 217 --- --- 11 ---