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 MED23 9439 broad.mit.edu 37 6 131927636 131927636 + Silent SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr6:131927636G>A uc003qcs.1 - 12 1524 c.1350C>T c.(1348-1350)tcC>tcT p.S450S MED23_uc003qcq.3_Silent_p.S456S|MED23_uc011eca.1_Silent_p.S91S|MED23_uc003qct.1_Silent_p.S456S|MED23_uc011ecb.1_Non-coding_Transcript NM_004830 NP_004821 Q9ULK4 MED23_HUMAN Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA. 450 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) GAAGTCTTAGGGAATGAGGTA 0.368000 38 8 0 0 0.000442599 0 0 ITPR1 3708 broad.mit.edu 37 3 4825540 4825540 + Missense_Mutation SNP C A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr3:4825540C>A uc003bqc.3 + 49 6856 c.6506C>A c.(6505-6507)cCt>cAt p.P2169H ITPR1_uc021wsi.1_Missense_Mutation_p.P2136H|ITPR1_uc021wsj.1_Missense_Mutation_p.P2121H|ITPR1_uc011asu.2_Intron NM_001168272 NP_001161744 Q14643 ITPR1_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA. 2184 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) ATGCTGAAACCTGGTGGCCAA 0.493000 6 4 1.23904e-05 4.82798e-05 0.000602214 1 0 GPHB5 122876 broad.mit.edu 37 14 63784382 63784382 + Nonsense_Mutation SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr14:63784382C>T uc021rud.1 - 2 237 c.180G>A c.(178-180)tgG>tgA p.W60* NM_145171 NP_660154 Q86YW7 GPHB5_HUMAN Homo sapiens glycoprotein hormone beta 5 (GPHB5), mRNA. 61 extracellular region hormone activity p.C59C(1)|p.W60C(1) breast(1)|endometrium(1)|lung(4)|urinary_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978) CACAGCGACCCCAGCAGGCAT 0.552000 33 5 0 0 0.00116845 0 0 CLK3 1198 broad.mit.edu 37 15 74911677 74911677 + Missense_Mutation SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr15:74911677C>T uc010uln.2 + 1 1045 c.584C>T c.(583-585)tCt>tTt p.S195F CLK3_uc002ayg.4_Missense_Mutation_p.S47F|CLK3_uc002ayh.4_5'UTR|CLK3_uc010ulm.1_Missense_Mutation_p.S195F|CLK3_uc002ayj.4_Missense_Mutation_p.S47F|CLK3_uc002ayk.4_5'UTR NM_001130028 NP_003983 P49761 CLK3_HUMAN Homo sapiens CDC-like kinase 3 (CLK3), transcript variant 1, mRNA. 195 Arg-rich. acrosomal vesicle|nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1) 15 CCACGAAGATCTCGGTCCAGA 0.577000 55 15 0 0 0.000422831 0 0 MUC16 94025 broad.mit.edu 37 19 8996340 8996340 + Silent SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr19:8996340G>A uc002mkp.3 - 60 41436 c.41232C>T c.(41230-41232)aaC>aaT p.N13744N MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.N561N|MUC16_uc021uog.1_Non-coding_Transcript NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 13746 SEA 11. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGAGGCTGTCGTTGTCCAGGG 0.542000 133 37 0 0 0.000680045 0 0 FRG1B 284802 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr20:29625941A>T uc010ztl.1 + 1 127 c.95A>T c.(94-96)gAt>gTt p.D32V FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. p.D62V(2)|p.A32T(1) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 61 6 0 0 0.00198382 0 0 NLRP13 126204 broad.mit.edu 37 19 56424151 56424151 + Silent SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr19:56424151G>A uc010ygg.2 - 4 1057 c.1032C>T c.(1030-1032)atC>atT p.I344I NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 344 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) AGCTGTGTAGGATTTTGGTCA 0.463000 79 17 0 0 0.000422831 0 0 NPSR1 387129 broad.mit.edu 37 7 34724261 34724261 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr7:34724261G>A uc003teh.1 + 1 373 c.245G>A c.(244-246)aGa>aAa p.R82K NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.R82K|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.R82K|NPSR1_uc003tei.1_Missense_Mutation_p.R82K|NPSR1_uc010kww.1_Missense_Mutation_p.R82K|NPSR1_uc011kar.1_Missense_Mutation_p.R82K NM_207173 NP_997056 Q6W5P4 NPSR1_HUMAN Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA. 82 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) AAGAAGTCAAGAATGACCTTC 0.433000 61 12 0 0 0.000978159 0 0 LOC338651 338651 broad.mit.edu 37 11 1619166 1619166 + Missense_Mutation SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr11:1619166C>T uc009ycx.1 + 1 1017 c.266C>T c.(265-267)cCt>cTt p.P89L MOB2_uc001ltq.2_Intron|LOC338651_uc001ltt.1_Non-coding_Transcript|KRTAP5-2_uc001ltv.3_Silent_p.K105K Homo sapiens uncharacterized LOC338651 (LOC338651), non-coding RNA. CACAGCCCCCCTTGGAACCCC 0.652000 55 27 0 0 0.00106085 0 0 CPNE3 8895 broad.mit.edu 37 8 87560537 87560537 + Silent SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr8:87560537G>A uc003ydv.2 + 11 1050 c.888G>A c.(886-888)gtG>gtA p.V296V CPNE3_uc003ydw.1_Silent_p.V12V NM_003909 NP_003900 O75131 CPNE3_HUMAN Homo sapiens copine III (CPNE3), mRNA. 296 VWFA. lipid metabolic process|vesicle-mediated transport cytosol calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity p.G295R(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 23 AGGTGGGAGTGGACTTCACTG 0.493000 41 9 0 0 0.000978159 0 0 DNM3 26052 broad.mit.edu 37 1 172356371 172356371 + Silent SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr1:172356371G>A uc001gie.3 + 18 2333 c.2157G>A c.(2155-2157)cgG>cgA p.R719R DNM3_uc001gif.3_Silent_p.R715R|DNM3_uc001gih.1_Silent_p.R75R NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA. 725 GED. endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CTCAGCGCCGGGATGAGATGC 0.512000 71 24 0 0 0.00106085 0 0 CCDC158 339965 broad.mit.edu 37 4 77272262 77272262 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr4:77272262G>A uc003hkb.4 - 16 2704 c.2551C>T c.(2551-2553)Cct>Tct p.P851S NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA. 851 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 GTGTATCCAGGGCCCTGAAGT 0.393000 101 51 0 0 0.000781405 0 0 C20orf43 51507 broad.mit.edu 37 20 55052148 55052148 + Silent SNP C G G TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr20:55052148C>G uc010zzf.1 + 4 563 c.456C>G c.(454-456)ccC>ccG p.P152P C20orf43_uc002xxt.2_Silent_p.P122P|C20orf43_uc002xxu.2_Silent_p.P122P NM_016407 NP_057491 Q9BY42 CT043_HUMAN Homo sapiens chromosome 20 open reading frame 43 (C20orf43), mRNA. 122 breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 10 Colorectal(105;0.202) TCATCTGCCCCGTTGTGGGCC 0.562000 35 9 0 0 0.000274275 0 0 OR2A2 442361 broad.mit.edu 37 7 143807135 143807135 + Silent SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr7:143807135C>T uc011ktz.2 + 0 460 c.460C>T c.(460-462)Ctg>Ttg p.L154L NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA. 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) TGGGTTTGCCCTGTCCCTGGT 0.532000 71 33 0 0 0.00283554 0 0 DGKD 8527 broad.mit.edu 37 2 234343527 234343527 + Missense_Mutation SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr2:234343527C>T uc002vui.1 + 4 578 c.566C>T c.(565-567)tCg>tTg p.S189L DGKD_uc002vuj.1_Missense_Mutation_p.S145L|DGKD_uc010fyh.1_Missense_Mutation_p.S56L|DGKD_uc002vuk.1_Missense_Mutation_p.S56L NM_152879 NP_690618 Q16760 DGKD_HUMAN Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA. 189 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) GGGGTCACGTCGCACGGGCTG 0.552000 109 11 0 0 0.000422831 0 0 AQP2 359 broad.mit.edu 37 12 50344816 50344816 + Missense_Mutation SNP A C C rs104894331 TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr12:50344816A>C uc001rvn.3 + 0 293 c.203A>C c.(202-204)aAc>aCc p.N68T NM_000486 NP_000477 P41181 AQP2_HUMAN Homo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA. 68 N -> S (in ANDI). cellular response to copper ion|cellular response to mercury ion|excretion apical plasma membrane|integral to membrane|transport vesicle membrane glycerol transmembrane transporter activity|water channel activity p.N68T(4) breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2) 10 GCCCACATCAACCCTGCCGTG 0.662000 24 7 0 0 0.00188189 0 0 SERAC1 84947 broad.mit.edu 37 6 158532443 158532443 + Silent SNP A T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr6:158532443A>T uc003qrc.2 - 16 2062 c.1920T>A c.(1918-1920)acT>acA p.T640T SERAC1_uc003qrb.2_Silent_p.T368T NM_032861 NP_116250 Q96JX3 SRAC1_HUMAN Homo sapiens serine active site containing 1 (SERAC1), mRNA. 640 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 15 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) TGAATTGTAAAGTACGCTGGT 0.363000 47 6 0 0 0.00116845 0 0 OR2L3 391192 broad.mit.edu 37 1 248224427 248224427 + Nonsense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr1:248224427G>A uc001idx.1 + 0 444 c.444G>A c.(442-444)tgG>tgA p.W148* OR2L13_uc001ids.3_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA. 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.W148*(2)|p.S147Y(1) 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) CAGGGTCTTGGATCATAGGCT 0.433000 84 19 0 0 0.000958276 0 0 NXNL1 115861 broad.mit.edu 37 19 17571529 17571529 + Silent SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr19:17571529G>A uc002ngs.3 - 0 197 c.150C>T c.(148-150)ttC>ttT p.F50F NM_138454 NP_612463 Q96CM4 NXNL1_HUMAN Homo sapiens nucleoredoxin-like 1 (NXNL1), mRNA. 50 Thioredoxin. cell redox homeostasis nuclear outer membrane central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 6 GGATGGGCACGAAGGCCTGGC 0.617000 63 22 0 0 0.00278032 0 0 CWH43 80157 broad.mit.edu 37 4 49030703 49030703 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr4:49030703G>A uc003gyv.3 + 9 1506 c.1324G>A c.(1324-1326)Gaa>Aaa p.E442K CWH43_uc011bzl.2_Missense_Mutation_p.E415K NM_025087 NP_079363 Q9H720 PG2IP_HUMAN Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA. 442 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 ATATGACAATGAAGGGTGGTC 0.413000 42 18 0 0 0.00278032 0 0 OR2L8 391190 broad.mit.edu 37 1 248112603 248112603 + Nonsense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr1:248112603G>A uc001idt.1 + 0 444 c.444G>A c.(442-444)tgG>tgA p.W148* OR2L13_uc001ids.3_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA. 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CAGGGTCTTGGATCATAGGCT 0.443000 241 12 0 0 0.000566183 0 0 OR10T2 128360 broad.mit.edu 37 1 158368507 158368507 + Silent SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr1:158368507G>A uc010pih.2 - 0 750 c.750C>T c.(748-750)gtC>gtT p.V250V NM_001004475 NP_001004475 Q8NGX3 O10T2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA. 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) AGCCATAGTGGACAAAGACCA 0.512000 58 17 0 0 0.000566183 0 0 FLJ43315 644316 broad.mit.edu 37 GL000211.1 107462 107462 + RNA SNP A T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chrGL000211.1:107462A>T uc003boa.3 + 4 c.1002A>T Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA. GTAAGGGTCAATTTTTTATAT 0.294000 38 6 0 0 0.00198382 0 0 LRP1B 53353 broad.mit.edu 37 2 141643882 141643882 + Silent SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr2:141643882G>A uc002tvj.1 - 23 4761 c.3789C>T c.(3787-3789)atC>atT p.I1263I LRP1B_uc010fnl.1_Silent_p.I445I NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 1263 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GAATAGAAAAGATGATGAATG 0.303000 TSP Lung(27;0.18) 27 4 0 0 0.000602214 0 0 IREB2 3658 broad.mit.edu 37 15 78782786 78782786 + Missense_Mutation SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr15:78782786C>T uc002bdr.2 + 16 2261 c.2099C>T c.(2098-2100)tCc>tTc p.S700F IREB2_uc010unb.1_Missense_Mutation_p.S450F NM_004136 NP_004127 P48200 IREB2_HUMAN Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA. 700 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) CGGTGGAATTCCTTAGAAGCA 0.363000 47 13 0 0 0.00244969 0 0 ACSM1 116285 broad.mit.edu 37 16 20702464 20702464 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr16:20702464G>A uc002dhm.1 - 0 115 c.47C>T c.(46-48)tCc>tTc p.S16F ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.S16F NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA. 16 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 GTTGTGGAAGGATTTGTGGAT 0.522000 183 43 0 0 0.00285205 0 0 LRRTM4 80059 broad.mit.edu 37 2 77745764 77745764 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr2:77745764G>A uc002snr.3 - 2 1646 c.1231C>T c.(1231-1233)Cct>Tct p.P411S LRRTM4_uc002snq.3_Missense_Mutation_p.P411S|LRRTM4_uc002sns.2_Missense_Mutation_p.P411S|LRRTM4_uc002snt.2_Missense_Mutation_p.P412S NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA. 411 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) TCTGCGCCAGGAATCTGAAAC 0.483000 50 16 0 0 0.00074312 0 0 DCAF13 25879 broad.mit.edu 37 8 104427664 104427664 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr8:104427664G>A uc003yln.3 + 0 723 c.446G>A c.(445-447)aGa>aAa p.R149K SLC25A32_uc003yll.3_5'Flank|SLC25A32_uc011lhr.2_5'Flank|DCAF13_uc003ylm.1_5'UTR NM_015420 NP_056235 Q9NV06 DCA13_HUMAN Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA. 0 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex p.R149K(2) NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 CCGGCCGGAAGAGCAACCGAG 0.562000 34 15 0 0 0.000308642 0 0 MYH2 4620 broad.mit.edu 37 17 10432012 10432012 + Missense_Mutation SNP C A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr17:10432012C>A uc010coi.3 - 26 3867 c.3739G>T c.(3739-3741)Gcc>Tcc p.A1247S AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.A1247S|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1247 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 AGTACCTTGGCTTTGGAGACC 0.398000 98 24 2.44723e-14 9.70306e-14 0.000720815 1 0 C14orf39 317761 broad.mit.edu 37 14 60921813 60921814 + Missense_Mutation DNP GG AA AA TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr14:60921813_60921814GG>AA uc001xez.4 - 15 1518_1519 c.1408_1409CC>TT c.(1408-1410)cct>TTt p.P470F C14orf39_uc010apo.3_Missense_Mutation_p.P181F NM_174978 NP_777638 Q08AQ4 Q08AQ4_HUMAN Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA. 470 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) AGAAAGTCCAGGGGATTCCTTT 0.292000 71 21 0 0 6.4e-05 0 0 COL11A1 1301 broad.mit.edu 37 1 103491454 103491454 + Missense_Mutation SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr1:103491454C>T uc001dum.3 - 5 1153 c.835G>A c.(835-837)Gaa>Aaa p.E279K COL11A1_uc001duk.3_Intron|COL11A1_uc001dul.3_Intron|COL11A1_uc001dun.3_Intron|COL11A1_uc009weh.3_Intron NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 279 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) TTGGATTTTTCCTTTGATTTA 0.338000 95 22 0 0 0.00188189 0 0 PCLO 27445 broad.mit.edu 37 7 82585745 82585745 + Silent SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr7:82585745C>T uc003uhx.2 - 4 4813 c.4524G>A c.(4522-4524)gaG>gaA p.E1508E PCLO_uc003uhv.2_Silent_p.E1508E NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 1439 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.R1507K(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AATCATAAGGCTCTCTTCTAG 0.378000 55 10 0 0 0.000673444 0 0 SLC17A8 246213 broad.mit.edu 37 12 100787176 100787176 + Missense_Mutation SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr12:100787176C>T uc010svi.2 + 3 816 c.503C>T c.(502-504)tCg>tTg p.S168L SLC17A8_uc009ztx.3_Missense_Mutation_p.S168L NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA. 168 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 TTCTTAACATCGACTCTGAAC 0.478000 46 18 0 0 0.000566183 0 0 MST1P2 11209 broad.mit.edu 37 1 16974511 16974511 + RNA SNP G A A rs58679574 by1000genomes TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr1:16974511G>A uc009vow.2 + 4 c.1321G>A 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. GGGTAGTCACGGGCTTAGGGC 0.652000 76 8 0 0 0.000274275 0 0 COL22A1 169044 broad.mit.edu 37 8 139601587 139601588 + Missense_Mutation DNP CC TT TT TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr8:139601587_139601588CC>TT uc003yvd.3 - 64 5236_5237 c.4789_4790GG>AA c.(4789-4791)gga>AAa p.G1597K COL22A1_uc011ljo.2_Missense_Mutation_p.G877K NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 1597 Collagen-like 16.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) ACCGGGAGGTCCTGGGAGGCCA 0.629000 HNSCC(7;0.00092) 35 6 0 0 6.4e-05 0 0 NEDD9 4739 broad.mit.edu 37 6 11213611 11213611 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr6:11213611G>A uc003mzv.2 - 1 529 c.362C>T c.(361-363)cCc>cTc p.P121L NEDD9_uc010joz.2_Missense_Mutation_p.P121L|NEDD9_uc003mzw.3_5'UTR|NEDD9_uc003mzx.3_Missense_Mutation_p.P121L NM_006403 NP_006394 Q14511 CASL_HUMAN Homo sapiens neural precursor cell expressed, developmentally down-regulated 9 (NEDD9), transcript variant 1, mRNA. 121 Interacts strongly with spindle- regulatory protein D1M1. actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth Golgi apparatus|cell cortex|focal adhesion|lamellipodium|nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) GTGGCCAGTGGGGACTTGGTA 0.542000 88 31 0 0 0.001512 0 0 SSPO 23145 broad.mit.edu 37 7 149509388 149509388 + Silent SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr7:149509388C>T uc010lpk.3 + 68 9777 c.9777C>T c.(9775-9777)tcC>tcT p.S3259S NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 3262 TSP type-1 12. cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGCCCTGGTCCCACTGTAGCC 0.716000 19 6 0 0 0.000274275 0 0 MYLK4 340156 broad.mit.edu 37 6 2685552 2685552 + Missense_Mutation SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr6:2685552C>T uc003mty.4 - 5 820 c.523G>A c.(523-525)Gac>Aac p.D175N NM_001012418 NP_001012418 Q86YV6 MYLK4_HUMAN Homo sapiens myosin light chain kinase family, member 4 (MYLK4), mRNA. 175 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Ovarian(93;0.0412) all_hematologic(90;0.0897) AGGACAATGTCGTTCTTAGAC 0.577000 103 28 0 0 0.00283554 0 0 POU2F1 5451 broad.mit.edu 37 1 167339406 167339406 + Silent SNP C T T rs34899926 byFrequency TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr1:167339406C>T uc001gec.3 + 4 407 c.168C>T c.(166-168)ctC>ctT p.L56L POU2F1_uc010plg.2_Non-coding_Transcript|POU2F1_uc001gee.3_Silent_p.L79L|POU2F1_uc010plh.2_Silent_p.L79L|POU2F1_uc001ged.3_Silent_p.L54L|POU2F1_uc001gef.3_Silent_p.L68L|POU2F1_uc001geg.3_5'Flank NM_001198783 NP_001185712 P14859 PO2F1_HUMAN Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA. 56 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 AGGTCCAACTCGCTGGAACAA 0.378000 46 18 0 0 0.00152264 0 0 OR52R1 119695 broad.mit.edu 37 11 4824685 4824685 + Missense_Mutation SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr11:4824685C>T uc021qcs.1 - 0 926 c.926G>A c.(925-927)gGa>gAa p.G309E NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA. 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TCCACAACATCCTTGGATAAC 0.448000 40 17 0 0 0.000566183 0 0 IGH 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A C C TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr16:32070612A>C uc002ecv.1 + 0 c.65A>C Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H233. GGTCTCCTGCAAGGCTTCTGG 0.552000 54 6 0 0 0.00198382 0 0 ZNF518B 85460 broad.mit.edu 37 4 10447404 10447404 + Silent SNP T C C TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr4:10447404T>C uc003gmn.3 - 2 1036 c.549A>G c.(547-549)aaA>aaG p.K183K ZNF518B_uc021xme.1_Silent_p.K183K NM_053042 NP_444270 Q9C0D4 Z518B_HUMAN Homo sapiens zinc finger protein 518B (ZNF518B), mRNA. 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 TGCCTGTGTGTTTCACCAAAT 0.388000 83 37 0 0 0.000953801 0 0 OR10W1 81341 broad.mit.edu 37 11 58035171 58035171 + Silent SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr11:58035171G>A uc001nmq.1 - 0 562 c.160C>T c.(160-162)Ctg>Ttg p.L54L NM_207374 NP_997257 Q8NGF6 O10W1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA. 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1) 26 Breast(21;0.0589) AGGCTGCCCAGGAAATAGTAC 0.493000 46 17 0 0 0.00074312 0 0 LCK 3932 broad.mit.edu 37 1 32742228 32742228 + Missense_Mutation SNP A G G TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr1:32742228A>G uc001bux.3 + 8 943 c.805A>G c.(805-807)Aag>Gag p.K269E LCK_uc001buy.3_Missense_Mutation_p.K269E|LCK_uc001buz.3_Missense_Mutation_p.K269E|LCK_uc010ohc.1_Missense_Mutation_p.K313E|LCK_uc001bva.3_Missense_Mutation_p.K276E NM_005356 NP_005347 P06239 LCK_HUMAN Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA. 269 Protein kinase. T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity p.K269K(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) CGGGCACACGAAGGTGGCGGT 0.647000 T TRB@ T-ALL 84 4 0 0 0.00116845 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882578 228882578 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr2:228882578G>A uc002vpq.2 - 6 3039 c.2992C>T c.(2992-2994)Ccc>Tcc p.P998S SPHKAP_uc002vpp.2_Missense_Mutation_p.P998S|SPHKAP_uc010zlx.1_Missense_Mutation_p.P998S NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 998 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CTGAGCCGGGGAGGCTTGTGT 0.532000 54 13 0 0 0.000308642 0 0 RYR3 6263 broad.mit.edu 37 15 33955848 33955848 + Silent SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr15:33955848C>T uc001zhi.3 + 35 5599 c.5529C>T c.(5527-5529)ttC>ttT p.F1843F RYR3_uc010bar.3_Silent_p.F1843F NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 1843 4 X approximate repeats. 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) ATCAGAAGTTCCGCTACAATG 0.572000 17 4 0 0 0.00024832 0 0 PEX1 5189 broad.mit.edu 37 7 92132403 92132403 + Missense_Mutation SNP T G G TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr7:92132403T>G uc003uly.3 - 12 2274 c.2178A>C c.(2176-2178)caA>caC p.Q726H PEX1_uc011khr.2_Missense_Mutation_p.Q518H|PEX1_uc010ley.3_Missense_Mutation_p.Q669H|PEX1_uc011khs.2_Missense_Mutation_p.Q404H|PEX1_uc011kht.1_Non-coding_Transcript NM_000466 NP_000457 O43933 PEX1_HUMAN Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA. 726 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TGTGAACTCCTTGAGCAGAAA 0.368000 30 14 0 0 0.00244969 0 0 HDC 3067 broad.mit.edu 37 15 50534764 50534764 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr15:50534764G>A uc001zxz.3 - 11 2024 c.1682C>T c.(1681-1683)aCc>aTc p.T561I HDC_uc001zxy.3_Missense_Mutation_p.T304I|HDC_uc010uff.2_Missense_Mutation_p.T528I NM_002112 NP_002103 P19113 DCHS_HUMAN Homo sapiens histidine decarboxylase (HDC), mRNA. 561 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) CTTGTGCTTGGTGGCATCTGG 0.537000 94 17 0 0 0.000422831 0 0 HIVEP3 59269 broad.mit.edu 37 1 42047174 42047174 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr1:42047174G>A uc001cgz.4 - 3 4508 c.3295C>T c.(3295-3297)Ccg>Tcg p.P1099S HIVEP3_uc001cha.4_Missense_Mutation_p.P1099S|HIVEP3_uc001cgy.3_Non-coding_Transcript NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA. 1099 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TTGCCTCCCGGGGGTCCACCA 0.612000 63 23 0 0 0.00229938 0 0 CARD8 22900 broad.mit.edu 37 19 48715042 48715042 + Silent SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr19:48715042G>A uc010xzj.2 - 10 1582 c.1539C>T c.(1537-1539)gcC>gcT p.A513A CARD8_uc002pii.4_3'UTR|CARD8_uc002pid.1_Intron|CARD8_uc010xzi.1_Intron|CARD8_uc010els.3_3'UTR|CARD8_uc010xzk.2_Silent_p.A432A|CARD8_uc002pie.4_Silent_p.A407A|CARD8_uc002pif.4_3'UTR|CARD8_uc021uwq.1_Silent_p.A407A|CARD8_uc021uwr.1_3'UTR|CARD8_uc002pig.4_Silent_p.A238A|CARD8_uc002pih.4_Silent_p.A463A|CARD8_uc010xzl.2_Silent_p.A463A|CARD8_uc010xzm.2_3'UTR NM_001184900 NP_001171829 Q9Y2G2 CARD8_HUMAN Homo sapiens caspase recruitment domain family, member 8 (CARD8), transcript variant 1, mRNA. 407 negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion cytoplasm|nucleus NACHT domain binding|caspase activator activity|protein homodimerization activity endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 15 all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184) OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336) GCACGTCCAGGGCCAGGTCCC 0.488000 180 35 0 0 0.00111076 0 0 ITGA8 8516 broad.mit.edu 37 10 15688978 15688978 + Silent SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr10:15688978C>T uc001ioc.1 - 11 1074 c.1074G>A c.(1072-1074)ggG>ggA p.G358G ITGA8_uc010qcb.1_Silent_p.G343G NM_003638 NP_003629 P53708 ITA8_HUMAN Homo sapiens integrin, alpha 8 (ITGA8), mRNA. 358 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 GGTAGATTTGCCCTACTTCTC 0.507000 56 14 0 0 0.000308642 0 0 SLC29A2 3177 broad.mit.edu 37 11 66136997 66136997 + Nonsense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr11:66136997G>A uc001oht.3 - 2 347 c.118C>T c.(118-120)Cag>Tag p.Q40* SLC29A2_uc009yrf.3_5'UTR|SLC29A2_uc001ohu.3_Nonsense_Mutation_p.Q40*|SLC29A2_uc001ohv.3_Nonsense_Mutation_p.Q40*|AX747485_uc001ohw.1_Non-coding_Transcript NM_001532 NP_001523 Q14542 S29A2_HUMAN Homo sapiens solute carrier family 29 (nucleoside transporters), member 2 (SLC29A2), mRNA. 40 cell proliferation|nucleobase, nucleoside and nucleotide metabolic process basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus nucleoside transmembrane transporter activity breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 AGTCGCGCCTGGAAGTACTGC 0.617000 101 31 0 0 0.00058488 0 0 ZNF229 7772 broad.mit.edu 37 19 44934304 44934304 + Missense_Mutation SNP C T T rs146515421 by1000genomes TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr19:44934304C>T uc002oze.1 - 5 1086 c.652G>A c.(652-654)Gat>Aat p.D218N ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.D212N NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN Homo sapiens zinc finger protein 229 (ZNF229), mRNA. 218 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) CTGTCATCATCCCAGTTACAT 0.393000 74 14 0 0 0.00185496 0 0 MYH4 4622 broad.mit.edu 37 17 10359836 10359836 + Missense_Mutation SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr17:10359836C>T uc002gmn.3 - 16 2045 c.1934G>A c.(1933-1935)gGt>gAt p.G645D AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 645 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.K644R(1) NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GAAAGAAGAACCCTTCTTTTT 0.328000 66 8 0 0 0.000274275 0 0 PTPRT 11122 broad.mit.edu 37 20 41306677 41306677 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr20:41306677G>A uc002xkg.3 - 6 1166 c.982C>T c.(982-984)Cgc>Tgc p.R328C PTPRT_uc010ggj.3_Missense_Mutation_p.R328C NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 328 Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.R328C(2) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GTGGTGGTGCGATATTCCACT 0.562000 64 48 0 0 0.000781405 0 0 HTR3A 3359 broad.mit.edu 37 11 113848577 113848577 + Missense_Mutation SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr11:113848577C>T uc010rxb.2 + 1 403 c.170C>T c.(169-171)cCc>cTc p.P57L HTR3A_uc010rxa.2_Missense_Mutation_p.P57L|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.P36L NM_213621 NP_998786 P46098 5HT3A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA. 51 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) GGTGTGCGCCCCGTGAGGGAC 0.592000 50 16 0 0 0.00074312 0 0 CDC16 8881 broad.mit.edu 37 13 115002333 115002333 + Missense_Mutation SNP A G G TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr13:115002333A>G uc001vuk.1 + 2 361 c.163A>G c.(163-165)Aga>Gga p.R55G CDC16_uc010tkm.1_Missense_Mutation_p.R55G|CDC16_uc001vul.1_Missense_Mutation_p.R55G|CDC16_uc001vum.1_5'UTR|CDC16_uc001vun.1_Missense_Mutation_p.R54G|CDC16_uc001vuo.1_Missense_Mutation_p.R54G NM_003903 NP_003894 Q13042 CDC16_HUMAN Homo sapiens cell division cycle 16 homolog (S. cerevisiae) (CDC16), transcript variant 1, mRNA. 55 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule binding endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) ACAATATCACAGAGCCGCCCA 0.438000 50 19 0 0 0.00074312 0 0 MPP2 4355 broad.mit.edu 37 17 41958897 41958897 + Missense_Mutation SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr17:41958897C>T uc010win.1 - 5 928 c.325G>A c.(325-327)Gaa>Aaa p.E109K MPP2_uc002ien.1_Missense_Mutation_p.E265K|MPP2_uc010wim.1_Missense_Mutation_p.E237K|MPP2_uc002ieo.1_Missense_Mutation_p.E248K|MPP2_uc010wio.1_Missense_Mutation_p.E237K|MPP2_uc010wip.1_Missense_Mutation_p.E293K Q14168 MPP2_HUMAN Homo sapiens membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) (MPP2), mRNA. 272 L27 2. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) AGGCCTGCTTCCTTGCAGGGG 0.602000 48 16 0 0 0.000566183 0 0 CYP2C8 1558 broad.mit.edu 37 10 96805591 96805591 + Silent SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr10:96805591G>A uc001kkb.3 - 5 1032 c.937C>T c.(937-939)Ctg>Ttg p.L313L CYP2C8_uc010qoa.2_Silent_p.L243L|CYP2C8_uc010qoc.2_Silent_p.L211L|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Silent_p.L227L|CYP2C8_uc021pwl.1_Silent_p.L243L|CYP2C8_uc010qod.1_Silent_p.L227L NM_000770 NP_000761 P10632 CP2C8_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA. 313 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) TGCTTCAGCAGGAGCAGGAGT 0.453000 69 19 0 0 0.00047179 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 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 51 32 0 0 0.00283554 0 0 CDH5 1003 broad.mit.edu 37 16 66424357 66424357 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr16:66424357G>A uc002eom.4 + 5 989 c.833G>A c.(832-834)gGc>gAc p.G278D CDH5_uc002eon.1_Missense_Mutation_p.G278D NM_001795 NP_001786 P33151 CADH5_HUMAN Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA. 278 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) ACCTCTGTGGGCTCTCTGTTT 0.532000 42 9 0 0 0.000673444 0 0 SUPT5H 6829 broad.mit.edu 37 19 39963882 39963882 + Silent SNP G C C TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr19:39963882G>C uc002olo.4 + 23 2477 c.2298G>C c.(2296-2298)ggG>ggC p.G766G SUPT5H_uc002olp.4_Silent_p.G766G|SUPT5H_uc002olq.4_Silent_p.G762G|SUPT5H_uc002oln.4_Silent_p.G766G|SUPT5H_uc002olr.4_Silent_p.G766G|SUPT5H_uc002ols.1_Silent_p.G389G|SUPT5H_uc010egp.1_Missense_Mutation_p.E132Q NM_001111020 NP_003160 O00267 SPT5H_HUMAN Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA. 766 9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CGACCTATGGGAGGACGCCCA 0.652000 34 17 0 0 0.00074312 0 0 PBXIP1 57326 broad.mit.edu 37 1 154919984 154919984 + Missense_Mutation SNP T C C TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr1:154919984T>C uc001ffr.3 - 8 838 c.779A>G c.(778-780)gAc>gGc p.D260G PBXIP1_uc001ffs.3_Missense_Mutation_p.D231G|PBXIP1_uc010pep.2_Missense_Mutation_p.D105G NM_020524 NP_065385 Q96AQ6 PBIP1_HUMAN Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA. 260 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGGGACACTGTCAGGAGGCAC 0.622000 84 18 0 0 0.00121646 0 0 CPSF4 10898 broad.mit.edu 37 7 99042437 99042437 + Silent SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr7:99042437C>T uc003uqj.3 + 1 272 c.129C>T c.(127-129)ttC>ttT p.F43F ATP5J2-PTCD1_uc011kiw.2_Intron|CPSF4_uc003uqi.3_Silent_p.F43F|CPSF4_uc003uqk.3_Silent_p.F43F|CPSF4_uc011kix.2_5'UTR NM_006693 NP_006684 O95639 CPSF4_HUMAN Homo sapiens cleavage and polyadenylation specific factor 4, 30kDa (CPSF4), transcript variant 1, mRNA. 43 mRNA processing|modification by virus of host mRNA processing|viral infectious cycle mRNA cleavage and polyadenylation specificity factor complex RNA binding|zinc ion binding p.F43L(2) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5) 14 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TCTGTGAATTCTTTTTGAAAG 0.542000 231 43 0 0 0.000781405 0 0 DRD1 1812 broad.mit.edu 37 5 174868977 174868977 + Missense_Mutation SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr5:174868977C>T uc003mcz.3 - 1 2071 c.1126G>A c.(1126-1128)Gag>Aag p.E376K DRD1_uc021yia.1_Missense_Mutation_p.E376K NM_000794 NP_000785 P21728 DRD1_HUMAN Homo sapiens dopamine receptor D1 (DRD1), mRNA. 376 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) CCTCGTGGCTCATGATGGCTG 0.522000 93 29 0 0 0.001512 0 0 PKHD1 5314 broad.mit.edu 37 6 51913356 51913356 + Nonsense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr6:51913356G>A uc003pah.1 - 22 2617 c.2341C>T c.(2341-2343)Cga>Tga p.R781* PKHD1_uc003pai.3_Nonsense_Mutation_p.R781* NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 781 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) GTCCGCTGTCGTCTCTGTGTC 0.507000 84 13 0 0 0.00136819 0 0 CERS2 29956 broad.mit.edu 37 1 150940901 150940901 + Silent SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr1:150940901G>A uc001evy.3 - 2 687 c.261C>T c.(259-261)ttC>ttT p.F87F CERS2_uc001evz.3_Silent_p.F87F|CERS2_uc009wmh.3_5'UTR NM_181746 NP_859530 Q96G23 CERS2_HUMAN Homo sapiens ceramide synthase 2 (CERS2), transcript variant 1, mRNA. 87 endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity TGGTCAGGTAGAAATGTTCCA 0.567000 33 16 0 0 0.000308642 0 0 GLIS3 169792 broad.mit.edu 37 9 4118392 4118392 + Silent SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr9:4118392C>T uc003zhx.1 - 3 1799 c.1086G>A c.(1084-1086)ccG>ccA p.P362P GLIS3_uc003zic.1_Silent_p.P362P|GLIS3_uc003zie.1_Silent_p.P362P|GLIS3_uc010mhh.1_Silent_p.P237P|GLIS3_uc003zid.1_Silent_p.P140P|GLIS3_uc010mhi.1_Silent_p.P169P|GLIS3_uc003zif.1_Silent_p.P140P|GLIS3_uc003zih.1_Silent_p.P140P|GLIS3_uc003zig.1_Silent_p.P206P|GLIS3_uc003zhw.1_Silent_p.P207P|GLIS3_uc003zhy.1_Silent_p.P140P|GLIS3_uc003zhz.1_Silent_p.P140P|GLIS3_uc003zib.1_Silent_p.P206P|GLIS3_uc010mhg.1_Silent_p.P140P NM_001042413 NP_001035878 Q8NEA6 GLIS3_HUMAN Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA. 207 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) GCACCGGGCGCGGCTGGGGAA 0.736000 8 4 0 0 0.00024832 0 0 abParts 0 broad.mit.edu 37 22 22663086 22663087 + RNA DNP TA GG GG rs1054158 by1000genomes TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr22:22663086_22663087TA>GG uc021wml.1 + 30 c.2444_2445TA>GG abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript Parts of antibodies, mostly variable regions. AGCTGCCACATAAGTTGTCCTT 0.302000 39 6 0 0 6.4e-05 0 0 TTC23 64927 broad.mit.edu 37 15 99758900 99758900 + Silent SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr15:99758900C>T uc002bur.3 - 6 1005 c.474G>A c.(472-474)gaG>gaA p.E158E TTC23_uc002bus.3_Silent_p.E158E|TTC23_uc002but.3_Silent_p.E158E|TTC23_uc002buu.3_Silent_p.E158E|TTC23_uc002buv.3_Silent_p.E158E|TTC23_uc002bux.3_Silent_p.E158E|TTC23_uc002buw.3_Silent_p.E158E|TTC23_uc010boq.3_Non-coding_Transcript|TTC23_uc002buy.3_Silent_p.E158E|TTC23_uc010bor.3_Silent_p.E158E|TTC23_uc002buz.2_Silent_p.E158E NM_022905 NP_075056 Q5W5X9 TTC23_HUMAN Homo sapiens tetratricopeptide repeat domain 23 (TTC23), transcript variant 2, mRNA. 158 binding endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2) 16 all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215) TTGTCAAATTCTCTGCAGCTT 0.393000 147 33 0 0 0.00283554 0 0 PVRL4 81607 broad.mit.edu 37 1 161043573 161043573 + Silent SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr1:161043573C>T uc001fxo.2 - 6 1469 c.1170G>A c.(1168-1170)ctG>ctA p.L390L PVRL4_uc010pjy.1_Silent_p.L69L|PVRL4_uc010pjz.1_Silent_p.L124L NM_030916 NP_112178 Q96NY8 PVRL4_HUMAN Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA. 390 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TGGTCAGGGTCAGCTCCTCCT 0.607000 50 6 0 0 0.00116845 0 0 CSF3 1440 broad.mit.edu 37 17 38172816 38172816 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr17:38172816G>A uc002htp.3 + 3 505 c.391G>A c.(391-393)Gag>Aag p.E131K CSF3_uc002hto.3_Missense_Mutation_p.E128K|CSF3_uc002htq.3_Missense_Mutation_p.E124K|CSF3_uc021tww.1_Missense_Mutation_p.E92K|CSF3_uc021twx.1_Missense_Mutation_p.E95K|CSF3_uc010wep.2_Missense_Mutation_p.E88K NM_000759 NP_000750 P09919 CSF3_HUMAN Homo sapiens colony stimulating factor 3 (granulocyte) (CSF3), transcript variant 1, mRNA. 131 cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation extracellular space cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity endometrium(1)|ovary(1)|prostate(1) 3 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Filgrastim(DB00099)|Pegfilgrastim(DB00019) GATCTCCCCCGAGTTGGGTCC 0.627000 85 24 0 0 0.00278032 0 0 RERE 473 broad.mit.edu 37 1 8418587 8418587 + Silent SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr1:8418587G>A uc001ape.3 - 20 4818 c.4008C>T c.(4006-4008)ccC>ccT p.P1336P RERE_uc001apf.3_Silent_p.P1336P|RERE_uc001apd.3_Silent_p.P782P NM_012102 NP_036234 Q9P2R6 RERE_HUMAN Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA. 1336 NLS-bearing substrate import into nucleus|multicellular organismal development mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CTGGGTGCAGGGGGTCCAGCT 0.697000 16 4 0 0 0.000602214 0 0 LDLRAP1 26119 broad.mit.edu 37 1 25883675 25883675 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr1:25883675G>A uc001bkl.4 + 3 490 c.376G>A c.(376-378)Gac>Aac p.D126N NM_015627 NP_056442 Q5SW96 ARH_HUMAN Homo sapiens low density lipoprotein receptor adaptor protein 1 (LDLRAP1), mRNA. 126 PID. amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1) 9 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649) CAAGATGCACGACAAGGTGTT 0.592000 49 20 0 0 0.00188189 0 0 ZNF121 7675 broad.mit.edu 37 19 9677580 9677580 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr19:9677580G>A uc010xkp.1 - 3 441 c.209C>T c.(208-210)gCc>gTc p.A70V ZNF121_uc010dwt.2_Missense_Mutation_p.A70V|ZNF121_uc010xkq.1_Missense_Mutation_p.A70V NM_001008727 NP_001008727 P58317 ZN121_HUMAN Homo sapiens zinc finger protein 121 (ZNF121), mRNA. 70 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1) 24 CAGGCTGAAGGCTTTTCTGCA 0.448000 50 15 0 0 0.000422831 0 0 MUC16 94025 broad.mit.edu 37 19 9059447 9059447 + Silent SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr19:9059447G>A uc002mkp.3 - 2 28203 c.27999C>T c.(27997-27999)atC>atT p.I9333I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 9335 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAGGGCCTGGGATGGATGTTC 0.498000 113 31 0 0 0.0024448 0 0 GRM3 2913 broad.mit.edu 37 7 86416374 86416374 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr7:86416374G>A uc003uid.3 + 2 2365 c.1266G>A c.(1264-1266)atG>atA p.M422I GRM3_uc010lef.3_Missense_Mutation_p.M420I|GRM3_uc010leg.3_Missense_Mutation_p.M294I|GRM3_uc010leh.3_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 422 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GTGATGCTATGAAGATCCTGG 0.463000 131 58 0 0 0.000781405 0 0 C15orf42 90381 broad.mit.edu 37 15 90137712 90137712 + Silent SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr15:90137712C>T uc002boe.3 + 5 1608 c.1608C>T c.(1606-1608)tgC>tgT p.C536C C15orf42_uc021sug.1_Silent_p.C535C NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA. 536 DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 59 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) TAATACATTGCCTTGCCGAGC 0.403000 55 12 0 0 0.000978159 0 0 APOB 338 broad.mit.edu 37 2 21231015 21231015 + Missense_Mutation SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr2:21231015C>T uc002red.3 - 25 8853 c.8725G>A c.(8725-8727)Gag>Aag p.E2909K NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 2909 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTCTTGATCTCGTTGCGCAGG 0.468000 378 136 0 0 0.000781405 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104263804 104263804 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr14:104263804G>A uc001yof.1 - 1 344 c.61C>T c.(61-63)Cct>Tct p.P21S PPP1R13B_uc001yog.1_5'UTR NM_015316 NP_056131 Q96KQ4 ASPP1_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA. 21 apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) GGTGTTATAGGAACTTCTGTT 0.378000 39 4 0 0 0.00024832 0 0 ACSM2B 348158 broad.mit.edu 37 16 20575994 20575994 + Silent SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr16:20575994C>T uc002dhj.4 - 2 384 c.174G>A c.(172-174)gaG>gaA p.E58E ACSM2B_uc002dhk.4_Silent_p.E58E|ACSM2B_uc010bwf.1_Silent_p.E58E NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 58 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CCATTACCTTCTCCATGTCAG 0.408000 24 7 0 0 0.000157383 0 0 RNF169 254225 broad.mit.edu 37 11 74545777 74545777 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr11:74545777G>A uc001ovl.4 + 4 912 c.899G>A c.(898-900)aGa>aAa p.R300K XRRA1_uc001ovm.2_Intron NM_001098638 NP_001092108 Q8NCN4 RN169_HUMAN Homo sapiens ring finger protein 169 (RNF169), mRNA. 300 zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1) 15 GCCCAGGAAAGAGCGAAGAGC 0.493000 30 15 0 0 0.000566183 0 0 PTEN 5728 broad.mit.edu 37 10 89653814 89653815 + Missense_Mutation DNP CC TT TT TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr10:89653814_89653815CC>TT uc001kfb.3 + 1 1144_1145 c.112_113CC>TT c.(112-114)cct>TTt p.P38F PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 38 Phosphatase tensin-type. T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development PML body|cytosol|internal side of plasma membrane PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.P38S(11)|p.?(8)|p.P38R(2)|p.Y27fs*1(2)|p.F37S(2)|p.Y27_N212>Y(2)|p.P38L(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TATGGGATTTCCTGCAGAAAGA 0.287000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 26 11 0 0 6.4e-05 0 0 FRG1B 284802 broad.mit.edu 37 20 29625892 29625892 + Missense_Mutation SNP T C C TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr20:29625892T>C uc010ztl.1 + 1 78 c.46T>C c.(46-48)Tat>Cat p.Y16H FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. p.P15P(1) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAATCTGGCTATGGAAAATA 0.348000 73 6 0 0 0.00116845 0 0 GARNL3 84253 broad.mit.edu 37 9 130117744 130117744 + Missense_Mutation SNP A G G TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr9:130117744A>G uc011mae.2 + 19 2329 c.1928A>G c.(1927-1929)tAc>tGc p.Y643C GARNL3_uc011mad.2_Missense_Mutation_p.Y621C|GARNL3_uc010mxi.3_5'UTR NM_032293 NP_115669 Q5VVW2 GARL3_HUMAN Homo sapiens GTPase activating Rap/RanGAP domain-like 3 (GARNL3), mRNA. 643 CNH. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 GAATTCCAGTACATCAGGGTA 0.458000 213 32 0 0 0.00178596 0 0 LMTK3 114783 broad.mit.edu 37 19 49012169 49012169 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr19:49012169G>A uc002pjk.3 - 5 583 c.583C>T c.(583-585)Ctc>Ttc p.L195F 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) CTGGCTCGGAGCTCCTTCACC 0.617000 66 17 0 0 0.000958276 0 0 MET 4233 broad.mit.edu 37 7 116380061 116380061 + Missense_Mutation SNP C A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr7:116380061C>A uc003vij.3 + 3 1637 c.1450C>A c.(1450-1452)Cat>Aat p.H484N MET_uc022akk.1_Missense_Mutation_p.H484N|MET_uc010lkh.3_Missense_Mutation_p.H484N|MET_uc011knc.1_Missense_Mutation_p.H484N|MET_uc011knd.2_Missense_Mutation_p.H484N|MET_uc011knf.2_Missense_Mutation_p.H484N|MET_uc011kne.2_Missense_Mutation_p.H484N|MET_uc011kng.1_Missense_Mutation_p.H484N|MET_uc011knh.1_Missense_Mutation_p.H484N|MET_uc011kni.2_Missense_Mutation_p.H484N|MET_uc011knj.2_Missense_Mutation_p.H54N|MET_uc011kna.1_Missense_Mutation_p.H484N|MET_uc011knb.1_Missense_Mutation_p.H484N NM_000245 NP_000236 P08581 MET_HUMAN Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA. 484 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CCTGGACTCCCATCCAGTGTC 0.433000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 144 7 0.00198382 0.00768588 0.00198382 1 0 COPB2 9276 broad.mit.edu 37 3 139087108 139087108 + Missense_Mutation SNP T C C TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr3:139087108T>C uc003etf.4 - 12 1554 c.1424A>G c.(1423-1425)gAg>gGg p.E475G COPB2_uc011bmv.2_Missense_Mutation_p.E446G|COPB2_uc010hui.3_Missense_Mutation_p.E446G NM_004766 NP_004757 P35606 COPB2_HUMAN Homo sapiens coatomer protein complex, subunit beta 2 (beta prime) (COPB2), transcript variant 1, mRNA. 475 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 ACAGACTAGCTCTCCAGAGTC 0.383000 28 15 0 0 0.000422831 0 0 GRIP2 80852 broad.mit.edu 37 3 14549195 14549195 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr3:14549195G>A uc021wtn.1 - 19 2380 c.2380C>T c.(2380-2382)Cac>Tac p.H794Y GRIP2_uc010heh.3_Non-coding_Transcript NM_001080423 NP_001073892 Q9C0E4 GRIP2_HUMAN Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA. 698 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 TCCCCCACGTGGATGGCACCA 0.627000 36 6 0 0 0.00198382 0 0 PADI1 29943 broad.mit.edu 37 1 17548845 17548845 + Silent SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr1:17548845C>T uc001bah.1 + 1 245 c.153C>T c.(151-153)ttC>ttT p.F51F NM_013358 NP_037490 Q9ULC6 PADI1_HUMAN Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA. 51 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) TGGAGGTCTTCATGGTCTACA 0.567000 97 31 0 0 0.00178596 0 0 DNAH5 1767 broad.mit.edu 37 5 13719075 13719075 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr5:13719075G>A uc003jfd.2 - 71 12457 c.12415C>T c.(12415-12417)Ccc>Tcc p.P4139S DNAH5_uc003jfc.2_Missense_Mutation_p.P307S NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 4139 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.P4139S(2) 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) AGTGTAATGGGAAACTGCTTA 0.453000 Kartagener syndrome 78 30 0 0 0.00178596 0 0 SPTA1 6708 broad.mit.edu 37 1 158650408 158650408 + Missense_Mutation SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr1:158650408C>T uc001fst.1 - 4 842 c.643G>A c.(643-645)Gtt>Att p.V215I NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 215 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TTCACTTCAACAACTCTCCCT 0.468000 104 44 0 0 0.000781405 0 0 DSCR10 259234 broad.mit.edu 37 21 39580553 39580553 + RNA SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr21:39580553G>A uc010gnt.2 + 2 c.675G>A Homo sapiens Down syndrome critical region gene 10 (non-protein coding) (DSCR10), non-coding RNA. GTTTGCCATCGAAGGAAAACC 0.403000 194 57 0 0 0.000781405 0 0 OR1S2 219958 broad.mit.edu 37 11 57971240 57971240 + Silent SNP C T T rs145253819 TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr11:57971240C>T uc010rkb.2 - 0 414 c.414G>A c.(412-414)gcG>gcA p.A138A NM_001004459 NP_001004459 Q8NGQ3 OR1S2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA. 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) GGTGGCAGATCGCCACAAAGT 0.463000 60 29 0 0 0.00127121 0 0 IKBIP 121457 broad.mit.edu 37 12 99038328 99038328 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr12:99038328G>A uc001tfx.3 - 0 262 c.152C>T c.(151-153)tCg>tTg p.S51L APAF1_uc001tfy.3_5'Flank|APAF1_uc001tfz.3_5'Flank|APAF1_uc001tga.3_5'Flank|APAF1_uc001tgb.3_5'Flank|APAF1_uc001tgc.3_5'Flank|IKBIP_uc001tfv.3_Missense_Mutation_p.S51L|IKBIP_uc001tfw.3_Missense_Mutation_p.S51L NM_153687 NP_710154 Q70UQ0 IKIP_HUMAN Homo sapiens IKBKB interacting protein (IKBIP), transcript variant 1, mRNA. 51 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 CGTCCCCAGCGACAGCAGGCT 0.751000 9 5 0 0 0.000602214 0 0 BEND2 139105 broad.mit.edu 37 X 18221737 18221737 + Missense_Mutation SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chrX:18221737C>T uc004cyj.4 - 4 945 c.791G>A c.(790-792)cGa>cAa p.R264Q BEND2_uc010nfb.2_Missense_Mutation_p.R264Q NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA. 264 p.R264*(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 GGATTCTCTTCGTGACAGAAC 0.463000 57 19 0 0 0.00074312 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19419831 19419831 + RNA SNP C G G TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr13:19419831C>G uc010tcj.1 - 0 c.26279G>C Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. TGCTTTGTTACTAAAGCAAAA 0.274000 34 5 0 0 0.000602214 0 0 HCN2 610 broad.mit.edu 37 19 590414 590414 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr19:590414G>A uc002lpe.3 + 0 522 c.469G>A c.(469-471)Ggc>Agc p.G157S NM_001194 NP_001185 Q9UL51 HCN2_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 2 (HCN2), mRNA. 157 cell-cell signaling|muscle contraction voltage-gated potassium channel complex cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity endometrium(5)|lung(4) 9 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ggagccgcgcggcAGCCAGGC 0.776000 13 5 0 0 0.00116845 0 0 ABCB1 5243 broad.mit.edu 37 7 87178664 87178664 + Splice_Site SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr7:87178664C>T uc003uiz.2 - 15 2218 c.1725_splice c.e15+1 p.K575_splice ABCB1_uc011khc.2_Splice_Site_p.K511_splice NM_000927 NP_000918 P08183 MDR1_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA. 575 ABC transporter 1. G2/M transition of mitotic cell cycle|stem cell proliferation Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CCTCACTGACCTTATCCAGAG 0.448000 28 13 0 0 0.00136819 0 0 RNF213 57674 broad.mit.edu 37 17 78316946 78316946 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr17:78316946G>A uc002jyh.2 + 27 6294 c.6151G>A c.(6151-6153)Gtg>Atg p.V2051M RNF213_uc021uen.1_Missense_Mutation_p.V2002M NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN SubName: Full=Uncharacterized protein; 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GTCTCTGTACGTGAAGAGGTT 0.483000 17 10 0 0 0.000978159 0 0 NDST3 9348 broad.mit.edu 37 4 118975649 118975649 + Missense_Mutation SNP T A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr4:118975649T>A uc003ibx.3 + 1 987 c.584T>A c.(583-585)aTt>aAt p.I195N NDST3_uc011cgf.1_Missense_Mutation_p.I195N|NDST3_uc003ibw.3_Missense_Mutation_p.I195N NM_004784 NP_004775 O95803 NDST3_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA. 195 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 GATTGTTGTATTAATCCTCAT 0.353000 67 37 0 0 0.00195071 0 0 GJB3 2707 broad.mit.edu 37 1 35250960 35250960 + Silent SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr1:35250960C>T uc001bxz.4 + 0 597 c.597C>T c.(595-597)atC>atT p.I199I GJB3_uc001bxx.3_Silent_p.I199I|GJB3_uc001bxy.3_Silent_p.I199I NM_024009 NP_076872 O75712 CXB3_HUMAN Homo sapiens gap junction protein, beta 3, 31kDa (GJB3), transcript variant 1, mRNA. 199 cell communication connexon complex|integral to membrane gap junction channel activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) CCGTCTGCATCGTACTCACCA 0.612000 42 9 0 0 0.000442599 0 0 METTL7B 196410 broad.mit.edu 37 12 56077753 56077753 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr12:56077753G>A uc010spr.2 + 1 864 c.655G>A c.(655-657)Gaa>Aaa p.E219K NM_152637 NP_689850 Q6UX53 MET7B_HUMAN Homo sapiens methyltransferase like 7B (METTL7B), mRNA. 219 methyltransferase activity kidney(1)|large_intestine(1)|lung(4) 6 CCAGTTCTCCGAAATCCAAAT 0.542000 66 43 0 0 0.00170553 0 0 PRIM2 5558 broad.mit.edu 37 6 57246833 57246833 + Missense_Mutation SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr6:57246833C>T uc003pdx.3 + 6 647 c.560C>T c.(559-561)cCt>cTt p.P187L PRIM2_uc003pdw.3_Missense_Mutation_p.P187L NM_000947 NP_000938 P49643 PRI2_HUMAN Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA. 187 DNA replication, synthesis of RNA primer|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 alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) ATTCAGATCCCTTTTGCTGAT 0.353000 28 6 0 0 0.00116845 0 0 GTSF1 121355 broad.mit.edu 37 12 54854188 54854188 + Silent SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr12:54854188G>A uc001sgb.3 - 6 546 c.460C>T c.(460-462)Ctg>Ttg p.L154L NM_144594 NP_653195 Q8WW33 GTSF1_HUMAN Homo sapiens gametocyte specific factor 1 (GTSF1), mRNA. 154 metal ion binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(1001;0.00452) ACATACGGCAGAGATTTGGGA 0.388000 20 21 0 0 0.00047179 0 0 KRTAP10-4 386672 broad.mit.edu 37 21 45993886 45993886 + Missense_Mutation SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr21:45993886C>T uc002zfk.1 + 0 281 c.251C>T c.(250-252)tCc>tTc p.S84F TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198687 NP_941960 P60372 KR104_HUMAN Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA. 84 36 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 TGCACCAGCTCCTGCACGCCC 0.687000 40 9 0 0 0.00136819 0 0 LOC645752 645752 broad.mit.edu 37 15 78211548 78211548 + Silent SNP T C C TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr15:78211548T>C uc010bky.2 - 10 983 c.219A>G c.(217-219)caA>caG p.Q73Q Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA. CCACCTGGGATTGGAGCTTTC 0.562000 150 5 0 0 0.000602214 0 0 IGSF9B 22997 broad.mit.edu 37 11 133805550 133805550 + Missense_Mutation SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr11:133805550C>T uc001qgx.4 - 6 1160 c.929G>A c.(928-930)gGg>gAg p.G310E IGSF9B_uc001qgy.1_Missense_Mutation_p.G152E NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA. 310 Ig-like 3. integral to membrane|plasma membrane p.G309G(1) 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) GGGGGAGCGCCCCAGGCTGTT 0.637000 11 3 0 0 6.4e-05 0 0 FAT2 2196 broad.mit.edu 37 5 150885593 150885593 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr5:150885593G>A uc003lue.4 - 22 12596 c.12583C>T c.(12583-12585)Cac>Tac p.H4195Y FAT2_uc003lud.4_Missense_Mutation_p.H802Y NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 4195 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) ACTTCGGAGTGGGGGTATTCC 0.602000 121 40 0 0 0.00195071 0 0 STAG1 10274 broad.mit.edu 37 3 136342005 136342005 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr3:136342005G>A uc003era.1 - 2 407 c.115C>T c.(115-117)Cgt>Tgt p.R39C STAG1_uc003erb.1_Missense_Mutation_p.R39C|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_5'UTR|STAG1_uc003ere.3_Missense_Mutation_p.R39C NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN Homo sapiens stromal antigen 1 (STAG1), mRNA. 39 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 CGGCCAGGACGACCCCTTTTT 0.403000 134 44 0 0 0.000781405 0 0 KCTD18 130535 broad.mit.edu 37 2 201369606 201369606 + Silent SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr2:201369606G>A uc002uvs.3 - 2 754 c.237C>T c.(235-237)ccC>ccT p.P79P KCTD18_uc002uvt.3_Silent_p.P79P|KCTD18_uc002uvu.1_Silent_p.P79P NM_152387 NP_689600 Q6PI47 KCD18_HUMAN Homo sapiens potassium channel tetramerisation domain containing 18 (KCTD18), mRNA. 79 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 GCTCATCTGTGGGAATCTGAA 0.433000 30 9 0 0 0.000274275 0 0 DNAH9 1770 broad.mit.edu 37 17 11700945 11700945 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr17:11700945G>A uc002gne.3 + 42 8323 c.8255G>A c.(8254-8256)aGc>aAc p.S2752N DNAH9_uc010coo.3_Missense_Mutation_p.S2046N NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 2752 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CAGACCCAAAGCCCGAACCTG 0.507000 26 6 0 0 0.000157383 0 0 OR13H1 347468 broad.mit.edu 37 X 130678175 130678175 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chrX:130678175G>A uc011muw.2 + 0 128 c.128G>A c.(127-129)gGa>gAa p.G43E IGSF1_uc004ewf.2_Intron NM_001004486 NP_001004486 Q8NG92 O13H1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA. 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 Acute lymphoblastic leukemia(192;0.000636) TTGGGGAATGGATTTATGATC 0.383000 77 38 0 0 0.00111076 0 0 AGPAT6 137964 broad.mit.edu 37 8 41467308 41467308 + Nonsense_Mutation SNP G T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr8:41467308G>T uc003xnz.2 + 3 1309 c.370G>T c.(370-372)Gag>Tag p.E124* NM_178819 NP_848934 Q86UL3 GPAT4_HUMAN Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta) (AGPAT6), mRNA. 124 acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction glycerol-3-phosphate O-acyltransferase activity endometrium(3)|kidney(2)|large_intestine(3)|lung(6) 14 Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147) GAAAGGAATGGAGACCATTAT 0.448000 93 23 1.85244e-09 7.30206e-09 0.00047179 1 0 SHANK1 50944 broad.mit.edu 37 19 51219543 51219543 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr19:51219543G>A uc002psx.1 - 1 467 c.448C>T c.(448-450)Ccc>Tcc p.P150S NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA. 150 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) TCCAGGTAGGGGACCCCCTTC 0.582000 89 16 0 0 0.000566183 0 0 GC 2638 broad.mit.edu 37 4 72620790 72620790 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr4:72620790G>A uc010iif.3 - 9 1221 c.1126C>T c.(1126-1128)Ccg>Tcg p.P376S GC_uc003hge.3_Missense_Mutation_p.P357S|GC_uc021xpb.1_Missense_Mutation_p.P357S NM_001204307 NP_001191236 P02774 VTDB_HUMAN Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA. 357 Albumin 2. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) AATACTTCCGGAAGATGAGTC 0.343000 28 21 0 0 0.000586117 0 0 TEAD2 8463 broad.mit.edu 37 19 49852044 49852044 + Silent SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr19:49852044G>A uc002pnh.3 - 8 769 c.663C>T c.(661-663)gcC>gcT p.A221A TEAD2_uc002png.3_Silent_p.A220A|TEAD2_uc002pni.3_Silent_p.A220A|TEAD2_uc002pnj.3_Silent_p.A217A|TEAD2_uc010yao.2_Silent_p.A89A|TEAD2_uc010emw.3_Silent_p.A220A NM_003598 NP_003589 Q15562 TEAD2_HUMAN Homo sapiens TEA domain family member 2 (TEAD2), mRNA. 217 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.R221W(1) central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 29 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) GAGCCTGCCAGGCTGGGGGCG 0.577000 39 7 0 0 0.00198382 0 0 CLPTM1L 81037 broad.mit.edu 37 5 1339007 1339007 + Silent SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr5:1339007G>A uc003jch.3 - 3 613 c.567C>T c.(565-567)tcC>tcT p.S189S CLPTM1L_uc003jcg.3_Silent_p.S56S NM_030782 NP_110409 Q96KA5 CLP1L_HUMAN Homo sapiens CLPTM1-like (CLPTM1L), mRNA. 189 apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09) Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181) KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208) CGGCAGGCAGGGAGGACCCGT 0.647000 47 9 0 0 0.000673444 0 0 AARSD1 80755 broad.mit.edu 37 17 41108528 41108528 + Missense_Mutation SNP T C C TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr17:41108528T>C uc010whg.2 - 9 1307 c.961A>G c.(961-963)Act>Gct p.T321A AARSD1_uc002icd.3_Missense_Mutation_p.T260A|AARSD1_uc010cyu.1_Missense_Mutation_p.T147A NM_001136042 NP_079543 Q9BTE6 AASD1_HUMAN Homo sapiens alanyl-tRNA synthetase domain containing 1 (AARSD1), transcript variant 1, mRNA. 147 alanyl-tRNA aminoacylation cytoplasm ATP binding|alanine-tRNA ligase activity|metal ion binding|nucleic acid binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1) 17 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) TGCTCTGCAGTCATAGAGGGG 0.483000 39 5 0 0 0.00116845 0 0 EPB49 2039 broad.mit.edu 37 8 21926979 21926979 + Missense_Mutation SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr8:21926979C>T uc022asw.1 + 4 382 c.344C>T c.(343-345)cCc>cTc p.P115L EPB49_uc022asq.1_Missense_Mutation_p.P115L|EPB49_uc011kys.1_Missense_Mutation_p.P75L|EPB49_uc022asr.1_Missense_Mutation_p.P115L|EPB49_uc022ass.1_Missense_Mutation_p.P90L|EPB49_uc022ast.1_Missense_Mutation_p.P115L|EPB49_uc022asu.1_Missense_Mutation_p.P115L|EPB49_uc022asv.1_Missense_Mutation_p.P115L|EPB49_uc022asx.1_Missense_Mutation_p.P115L|EPB49_uc022asy.1_Missense_Mutation_p.P90L NM_001978 NP_001969 Q08495 DEMA_HUMAN Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA. 115 actin filament bundle assembly|actin filament capping actin cytoskeleton|nucleus actin binding central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 10 Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631) GCCTCGGCCCCCAGAACCACT 0.627000 42 8 0 0 0.000673444 0 0 AGBL1 123624 broad.mit.edu 37 15 86940643 86940643 + Silent SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr15:86940643G>A uc002blz.1 + 16 2363 c.2283G>A c.(2281-2283)gaG>gaA p.E761E NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA. 761 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 ATCCAGGAGAGAGCAATGCCA 0.443000 49 9 0 0 0.000442599 0 0 TNR 7143 broad.mit.edu 37 1 175331865 175331865 + Missense_Mutation SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr1:175331865C>T uc001gkp.1 - 11 2869 c.2788G>A c.(2788-2790)Gaa>Aaa p.E930K TNR_uc009wwu.1_Missense_Mutation_p.E930K NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 930 Fibronectin type-III 7. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.E930K(4)|p.Y929Y(2) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) AGGCTGATTTCGTATTCGGTA 0.532000 94 25 0 0 0.00278032 0 0 SLC22A1 6580 broad.mit.edu 37 6 160564612 160564612 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr6:160564612G>A uc003qtc.3 + 7 1421 c.1316G>A c.(1315-1317)cGa>cAa p.R439Q SLC22A1_uc003qtd.3_Missense_Mutation_p.R439Q NM_003057 NP_003048 O15245 S22A1_HUMAN Homo sapiens solute carrier family 22 (organic cation transporter), member 1 (SLC22A1), transcript variant 1, mRNA. 439 basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding SLC22A1/CUTA(2) breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1) 21 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) TGTGTTGGCCGAATGGGAATC 0.498000 36 12 0 0 0.00136819 0 0 GUSBP11 91316 broad.mit.edu 37 22 24056458 24056458 + RNA SNP A G G TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr22:24056458A>G uc011aiz.2 - 2 c.651T>C GUSBP11_uc010gub.1_Non-coding_Transcript Homo sapiens glucuronidase, beta pseudogene 11 (GUSBP11), non-coding RNA. GTATAGAAGCAGAGACCACAG 0.552000 9 3 0 0 0.00024832 0 0 CDCA8 55143 broad.mit.edu 37 1 38158627 38158627 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr1:38158627G>A uc001cbr.3 + 2 252 c.145G>A c.(145-147)Gag>Aag p.E49K C1orf109_uc010oig.2_5'Flank|C1orf109_uc001cbo.3_5'Flank|C1orf109_uc001cbp.3_5'Flank|C1orf109_uc001cbq.1_5'Flank|CDCA8_uc001cbs.3_Missense_Mutation_p.E49K|CDCA8_uc010oih.1_5'UTR NM_018101 NP_060571 Q53HL2 BOREA_HUMAN Homo sapiens cell division cycle associated 8 (CDCA8), mRNA. 49 Required for centromere localization.|Required for interaction with INCENP and BIRC5.|Required for interaction with INCENP.|Required for interaction with SENP3.|Required to form a minimal CPC core complex that localizes to the central spindle and midbody and properly executes the role of the CPC during cytokinesis. cell division|chromosome organization|mitotic metaphase|mitotic prometaphase chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCTCCTCAAGGAGGTGGATAA 0.567000 46 17 0 0 0.000422831 0 0 LRBA 987 broad.mit.edu 37 4 151773905 151773905 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr4:151773905G>A uc010ipj.3 - 22 3201 c.2957C>T c.(2956-2958)aCc>aTc p.T986I LRBA_uc003ilu.4_Missense_Mutation_p.T986I NM_006726 NP_006717 P50851 LRBA_HUMAN Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA. 986 Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) ACCATTTGTGGTGAAATGAGG 0.373000 38 23 0 0 0.00229938 0 0 MPHOSPH8 54737 broad.mit.edu 37 13 20221047 20221047 + Silent SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr13:20221047C>T uc001umh.3 + 2 935 c.834C>T c.(832-834)gaC>gaT p.D278D MPHOSPH8_uc001umg.3_Silent_p.D278D|MPHOSPH8_uc001umi.3_5'UTR NM_017520 NP_059990 Q99549 MPP8_HUMAN Homo sapiens M-phase phosphoprotein 8 (MPHOSPH8), mRNA. 278 cell cycle cytoplasm|nucleus breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) CAGAGGATGACAGTGAAGGGC 0.423000 100 20 0 0 0.00152264 0 0 PELP1 27043 broad.mit.edu 37 17 4577850 4577851 + Missense_Mutation DNP CT TA TA TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr17:4577850_4577851CT>TA uc002fyi.4 - 12 1762_1763 c.1536_1537AG>TA c.(1534-1539)aaaggg>aaTAgg p.512_513KG>NR PELP1_uc010vsf.2_Missense_Mutation_p.365_366KG>NR NM_014389 NP_055204 Q8IZL8 PELP1_HUMAN Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA. 512 transcription, DNA-dependent MLL1 complex|cytoplasm protein binding breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 15 TTGCTATCCCCTTTCCGGTGGC 0.629000 36 12 0 0 6.4e-05 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58549328 58549328 + Missense_Mutation SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr19:58549328C>T uc002qrc.1 + 2 371 c.124C>T c.(124-126)Cgg>Tgg p.R42W ZSCAN1_uc002qra.1_Missense_Mutation_p.R42W|ZSCAN1_uc002qrb.1_Missense_Mutation_p.R42W NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA. 42 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) TCTGCGCTTCCGGCAGTTCCA 0.721000 21 4 0 0 0.00024832 0 0 CLECL1 160365 broad.mit.edu 37 12 9885648 9885648 + Silent SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr12:9885648G>A uc001qwi.3 - 0 248 c.213C>T c.(211-213)ttC>ttT p.F71F CLECL1_uc001qwj.3_Silent_p.F71F NM_001253750 NP_001240679 Q8IZS7 CLCL1_HUMAN Homo sapiens C-type lectin-like 1 (CLECL1), transcript variant 3, mRNA. 71 integral to membrane|plasma membrane sugar binding p.V70V(1) breast(1)|kidney(1)|large_intestine(4)|lung(3) 9 AAAAGAGAGAGAAGACCACAA 0.428000 49 19 0 0 0.00152264 0 0 GRIK4 2900 broad.mit.edu 37 11 120707551 120707551 + Silent SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr11:120707551C>T uc001pxn.2 + 7 1029 c.742C>T c.(742-744)Ctg>Ttg p.L248L GRIK4_uc009zav.1_Silent_p.L248L|GRIK4_uc009zaw.1_Silent_p.L248L|GRIK4_uc009zax.1_Silent_p.L248L NM_014619 NP_055434 Q16099 GRIK4_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA. 248 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) CTTCACTAATCTGGTAAGATG 0.453000 58 22 0 0 0.00229938 0 0 EXTL3 2137 broad.mit.edu 37 8 28574362 28574362 + Silent SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr8:28574362C>T uc003xgz.1 + 2 1379 c.786C>T c.(784-786)tcC>tcT p.S262S NM_001440 NP_001431 O43909 EXTL3_HUMAN Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA. 262 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) AGTTGTATTCCCTGCCACACT 0.527000 53 6 0 0 0.00116845 0 0 FAM92A1 137392 broad.mit.edu 37 8 94722022 94722022 + Silent SNP T A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr8:94722022T>A uc022ayd.1 + 5 565 c.462T>A c.(460-462)gcT>gcA p.A154A FAM92A1_uc022ayc.1_Missense_Mutation_p.L155Q|FAM92A1_uc003yfx.4_Non-coding_Transcript|FAM92A1_uc003yfw.4_Non-coding_Transcript|FAM92A1_uc010mar.3_5'UTR NM_145269 NP_660312 A1XBS5 F92A1_HUMAN Homo sapiens family with sequence similarity 92, member A1 (FAM92A1), mRNA. 154 NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1) 7 Breast(36;2.4e-06) BRCA - Breast invasive adenocarcinoma(8;0.0168) TACAGAGAGCTGCAATGGATG 0.358000 25 6 0 0 0.00116845 0 0 GLRA1 2741 broad.mit.edu 37 5 151239414 151239414 + Silent SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr5:151239414G>A uc003lut.3 - 3 695 c.408C>T c.(406-408)ttC>ttT p.F136F GLRA1_uc003lur.3_Silent_p.F136F|GLRA1_uc003lus.3_Silent_p.F53F NM_001146040 NP_001139512 P23415 GLRA1_HUMAN Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA. 136 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TGATCTCATGGAAGTGGGCCC 0.522000 71 10 0 0 0.000442599 0 0 ACSM2B 348158 broad.mit.edu 37 16 20575996 20575996 + Missense_Mutation SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr16:20575996C>T uc002dhj.4 - 2 382 c.172G>A c.(172-174)Gag>Aag p.E58K ACSM2B_uc002dhk.4_Missense_Mutation_p.E58K|ACSM2B_uc010bwf.1_Missense_Mutation_p.E58K NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 58 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 ATTACCTTCTCCATGTCAGCC 0.413000 25 7 0 0 0.000157383 0 0 ARAP2 116984 broad.mit.edu 37 4 36109304 36109304 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr4:36109304G>A uc003gsq.2 - 26 4506 c.4168C>T c.(4168-4170)Cac>Tac p.H1390Y NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA. 1390 Ras-associating. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TCCTTGTAGTGAAGAGGACGC 0.353000 71 38 0 0 0.00111076 0 0 IRF6 3664 broad.mit.edu 37 1 209974754 209974754 + Missense_Mutation SNP G A A rs28942093 TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr1:209974754G>A uc001hhq.2 - 2 309 c.5C>T c.(4-6)gCc>gTc p.A2V IRF6_uc010psm.2_Intron NM_006147 NP_001193625 O14896 IRF6_HUMAN Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA. 2 A -> V (in VWS; dbSNP:rs28942093). cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) GGGGTGGAGGGCCATGATCTG 0.597000 HNSCC(57;0.16) 77 14 0 0 0.000422831 0 0 BEGAIN 57596 broad.mit.edu 37 14 101004532 101004532 + Missense_Mutation SNP C A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr14:101004532C>A uc010txa.2 - 5 1702 c.1556G>T c.(1555-1557)gGg>gTg p.G519V BEGAIN_uc001yhp.3_Missense_Mutation_p.G455V|BEGAIN_uc001yhq.3_Missense_Mutation_p.G519V NM_001159531 NP_065887 Q9BUH8 BEGIN_HUMAN Homo sapiens brain-enriched guanylate kinase-associated homolog (rat) (BEGAIN), transcript variant 1, mRNA. 519 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) GTCCCCGTCCCCCCCCTCGCT 0.731000 7 4 2.56e-06 1.00328e-05 0.00024832 1 0 PCDHGC5 56097 broad.mit.edu 37 5 140751639 140751639 + Missense_Mutation SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr5:140751639C>T uc003ljw.2 + 0 1678 c.1678C>T c.(1678-1680)Ccg>Tcg p.P560S 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.P560S|PCDHGC5_uc011dau.2_5'Flank NM_018924 NP_061747 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA. 562 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) CGACAATGCACCGCTGGTGCT 0.662000 29 4 0 0 0.00024832 0 0 PSMB11 122706 broad.mit.edu 37 14 23512032 23512032 + Missense_Mutation SNP G A A TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr14:23512032G>A uc010ake.1 + 0 657 c.598G>A c.(598-600)Gaa>Aaa p.E200K NM_001099780 NP_001093250 A5LHX3 PSB11_HUMAN Homo sapiens proteasome (prosome, macropain) subunit, beta type, 11 (PSMB11), mRNA. 200 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(1)|kidney(2)|lung(4) 7 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00643) GAGCACCCAGGAAGCCTACGC 0.642000 31 14 0 0 0.000308642 0 0 C19orf66 55337 broad.mit.edu 37 19 10200710 10200710 + Missense_Mutation SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr19:10200710C>T uc002mmu.4 + 4 669 c.371C>T c.(370-372)cCc>cTc p.P124L C19orf66_uc002mmv.4_Missense_Mutation_p.P124L|C19orf66_uc002mmw.4_Missense_Mutation_p.P73L NM_018381 NP_060851 Q9NUL5 CS066_HUMAN Homo sapiens chromosome 19 open reading frame 66 (C19orf66), mRNA. 124 large_intestine(3)|skin(1) 4 CGCCGCGTGCCCCAGCGGAAG 0.572000 6 4 0 0 0.00024832 0 0 NAALADL2 254827 broad.mit.edu 37 3 174974201 174974201 + Splice_Site SNP C T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr3:174974201C>T uc003fit.3 + 4 907 c.820_splice c.e4-1 p.A274_splice NAALADL2_uc003fiu.1_Splice_Site_p.A267_splice|NAALADL2_uc010hwy.1_Splice_Site_p.A96_splice|NAALADL2_uc010hwz.1_Splice_Site NM_207015 NP_996898 Q58DX5 NADL2_HUMAN Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA. 274 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) CTCTTTCAGGCTGAAGTCATC 0.313000 44 23 0 0 0.00278032 0 0 XIRP2 129446 broad.mit.edu 37 2 168103971 168103971 + Silent SNP A G G TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr2:168103971A>G uc002udx.3 + 8 6158 c.6069A>G c.(6067-6069)aaA>aaG p.K2023K XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.K1848K|XIRP2_uc010fpq.3_Silent_p.K1801K|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 1848 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAGCCCCCAAAGGCACTGTAA 0.403000 42 13 0 0 0.00244969 0 0 HDGFL1 154150 broad.mit.edu 37 6 22570346 22570347 + In_Frame_Ins INS - GGC GGC TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr6:22570346_22570347insGGC uc003nds.3 + 0 669_670 c.542_543insGGC c.(541-543)agg>agGGCg p.188_189insA NM_138574 NP_612641 Q5TGJ6 HDGL1_HUMAN Homo sapiens hepatoma derived growth factor-like 1 (HDGFL1), mRNA. 188 Ala-rich.|Glu-rich. kidney(1)|large_intestine(3)|lung(7) 11 Ovarian(93;0.163) gaagcggagagggcggcggcgg 0.767 --- 4 --- --- 2 --- HSP90AB1 3326 broad.mit.edu 37 6 44220932 44220932 + Frame_Shift_Del DEL A - - TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr6:44220932delA uc003oxa.1 + 10 1966 c.1882delA c.(1882-1884)atcfs p.I628fs HSP90AB1_uc011dvr.1_Frame_Shift_Del_p.I618fs|HSP90AB1_uc003oxb.1_Frame_Shift_Del_p.I628fs|HSP90AB1_uc011dvs.1_Frame_Shift_Del_p.I448fs|HSP90AB1_uc003oxc.1_Frame_Shift_Del_p.I266fs NM_007355 NP_031381 P08238 HS90B_HUMAN Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 1 (HSP90AB1), mRNA. 628 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|TPR domain binding|nitric-oxide synthase regulator activity|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GCACCTGGAGATCAACCCTGA 0.547 --- 127 --- --- 17 --- EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + Splice_Site INS - C C rs36063533 TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr12:7080212_7080213insC uc001qsh.4 + 1 269 c.126_splice c.e1+1 p.S42_splice PHB2_uc021quf.1_5'Flank|PHB2_uc021qug.1_5'Flank|PHB2_uc010sft.1_5'Flank|PHB2_uc010sfu.1_5'Flank|EMG1_uc009zfo.2_Non-coding_Transcript|EMG1_uc010sfv.1_Non-coding_Transcript NM_006331 NP_006322 Q92979 NEP1_HUMAN Homo sapiens EMG1 nucleolar protein homolog (S. cerevisiae) (EMG1), mRNA. 42 ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GAGGCCGTAGTTTATTGTGGTG 0.569 --- 12 --- --- 6 --- MIS18BP1 55320 broad.mit.edu 37 14 45716018 45716019 + Frame_Shift_Ins INS - T T TCGA-HR-A2OH-01A-11D-A197-08 TCGA-HR-A2OH-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30724ea1-392c-409c-8704-36d9486219ed 6286dcdd-3161-4be2-a24b-5f4c3d4fb6b8 g.chr14:45716018_45716019insT uc001wwf.3 - 1 930_931 c.471_472insA c.(469-474)aaattgfs p.K157fs MIS18BP1_uc010anh.2_Non-coding_Transcript NM_018353 NP_060823 Q6P0N0 M18BP_HUMAN Homo sapiens MIS18 binding protein 1 (MIS18BP1), mRNA. 157 CenH3-containing nucleosome assembly at centromere|cell division|mitosis chromosome, centromeric region|nucleoplasm DNA binding p.K157fs*24(2) NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 GTATGCTGCAATTTTTTTTTTT 0.356 --- 112 --- --- 9 ---