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 DLX6 1750 broad.mit.edu 37 7 96635340 96635340 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:96635340C>T uc022ahu.1 + 0 51 c.51C>T c.(49-51)tcC>tcT p.S17S DLX6-AS1_uc003uok.3_5'Flank|DLX6-AS1_uc003uol.3_Intron|DLX6-AS1_uc010lfo.1_Intron NM_005222 NP_005213 P56179 DLX6_HUMAN Homo sapiens distal-less homeobox 6 (DLX6), mRNA. 0 nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) AGGACTCGTCCAAATCCGCCT 0.617000 28 3 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38601810 38601810 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:38601810C>T uc021wvo.1 - 21 4125 c.4073G>A c.(4072-4074)gGg>gAg p.G1358E SCN5A_uc021wvk.1_Missense_Mutation_p.G1357E|SCN5A_uc021wvl.1_Missense_Mutation_p.G1304E|SCN5A_uc021wvm.1_Missense_Mutation_p.G1358E|SCN5A_uc021wvn.1_Missense_Mutation_p.G1357E|SCN5A_uc021wvp.1_Missense_Mutation_p.G1358E|SCN5A_uc021wvq.1_Missense_Mutation_p.G1357E|SCN5A_uc021wvr.1_Missense_Mutation_p.G1358E|SCN5A_uc021wvs.1_Missense_Mutation_p.G1358E|SCN5A_uc021wvt.1_Missense_Mutation_p.G1357E|SCN5A_uc021wvu.1_Missense_Mutation_p.G1304E|SCN5A_uc021wvv.1_Missense_Mutation_p.G1358E|SCN5A_uc021wvj.1_Missense_Mutation_p.G1170E|SCN5A_uc021wvi.1_Missense_Mutation_p.G1224E|SCN5A_uc021wvw.1_Missense_Mutation_p.G968E NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1358 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CCCAAACTTCCCCGCAAAGAG 0.542000 85 12 0 0 1 0 0 NCF1 653361 broad.mit.edu 37 7 74197924 74197924 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:74197924G>A uc003ubb.3 + 6 701 c.631G>A c.(631-633)Gag>Aag p.E211K NCF1_uc010lbs.1_3'UTR|NCF1_uc011kfh.1_3'UTR NM_000265 NP_000256 P14598 NCF1_HUMAN Homo sapiens neutrophil cytosolic factor 1 (NCF1), mRNA. 211 Asp/Glu-rich (highly acidic).|SH3 1. cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation NADPH oxidase complex|cytosol|soluble fraction GTP binding|GTPase activity|SH3 domain binding|electron carrier activity|phosphatidylinositol binding|superoxide-generating NADPH oxidase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3) 10 GTCCTTCCTCGAGCCCCTGGA 0.637000 94 15 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13754425 13754425 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:13754425C>T uc003jfd.2 - 61 10484 c.10442G>A c.(10441-10443)cGa>cAa p.R3481Q DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3481 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GTGTCTGCATCGCTCTGCATC 0.418000 Kartagener syndrome 65 10 0 0 1 0 0 VEZT 55591 broad.mit.edu 37 12 95656847 95656847 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr12:95656847C>T uc001tdz.2 + 3 529 c.424C>T c.(424-426)Cct>Tct p.P142S VEZT_uc001tds.3_Missense_Mutation_p.P94S|VEZT_uc001tdv.3_Missense_Mutation_p.P111S|VEZT_uc009zsy.1_Intron|VEZT_uc001tdr.2_Intron|VEZT_uc001tdt.2_Missense_Mutation_p.P94S|VEZT_uc009zsz.1_Missense_Mutation_p.P142S|VEZT_uc001tdw.1_Missense_Mutation_p.P94S|VEZT_uc009zta.1_Missense_Mutation_p.P94S NM_017599 NP_060069 Q9HBM0 VEZA_HUMAN Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA. 142 acrosomal vesicle|adherens junction|integral to membrane|nucleus p.P142H(1) endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 CCTGGCAACCCCTAATATTTG 0.448000 175 11 0 0 1 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24261570 24261570 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr8:24261570G>A uc003xdz.2 + 12 1595 c.1375G>A c.(1375-1377)Gat>Aat p.D459N ADAMDEC1_uc010lub.2_Missense_Mutation_p.D380N|ADAMDEC1_uc011lab.1_Missense_Mutation_p.D380N NM_014479 NP_001138744 O15204 ADEC1_HUMAN Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA. 459 Disintegrin. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) GCCTGGAACTGATTGCGGAGG 0.408000 26 7 0 0 1 0 0 AHCTF1 25909 broad.mit.edu 37 1 247040329 247040329 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:247040329G>A uc001ibv.2 - 22 2984 c.2887C>T c.(2887-2889)Ctt>Ttt p.L963F AHCTF1_uc009xgs.1_5'UTR|AHCTF1_uc001ibw.1_Non-coding_Transcript NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA. 954 Necessary for cytoplasmic localization (By similarity). cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TGCACTAAAAGGAATTCATGA 0.348000 38 4 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50278624 50278624 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr18:50278624C>T uc002lfe.2 + 1 908 c.292C>T c.(292-294)Ctg>Ttg p.L98L DCC_uc010xdr.1_5'UTR NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 98 Ig-like C2-type 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TGGGTCTCTGCTGATACAAAA 0.458000 62 7 0 0 1 0 0 TMEM2 23670 broad.mit.edu 37 9 74309493 74309493 + Missense_Mutation SNP A C C TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr9:74309493A>C uc011lsa.1 - 20 4168 c.3628T>G c.(3628-3630)Tac>Gac p.Y1210D TMEM2_uc011lrz.1_Missense_Mutation_p.Y203D|TMEM2_uc010mos.2_Missense_Mutation_p.Y1147D|TMEM2_uc011lsb.1_Non-coding_Transcript|TMEM2_uc004aik.2_Missense_Mutation_p.Y44D NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA. 1210 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) ACAGGGAGGTAACTTTTATGA 0.423000 43 12 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31642763 31642763 + Missense_Mutation SNP T A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:31642763T>A uc001wrc.1 - 4 1342 c.853A>T c.(853-855)Aca>Tca p.T285S NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN Homo sapiens HECT domain containing 1 (HECTD1), mRNA. 285 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) CTGCAAAGTGTTGAGAGCAGA 0.393000 79 20 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 47989612 47989612 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr20:47989612C>T uc002xur.1 - 1 2651 c.2485G>A c.(2485-2487)Gaa>Aaa p.E829K KCNB1_uc002xus.1_Missense_Mutation_p.E829K NM_004975 NP_004966 Q14721 KCNB1_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA. 829 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity p.E829K(2) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TTGCACTTTTCCTGACCACTG 0.522000 50 6 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104048398 104048398 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr12:104048398C>T uc001tjw.3 + 12 1659 c.1473C>T c.(1471-1473)atC>atT p.I491I NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 491 FAS1 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AAGGGGACATCATTGCTTCCA 0.368000 58 5 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36873580 36873580 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:36873580C>T uc003cgj.3 - 20 7610 c.7362G>A c.(7360-7362)aaG>aaA p.K2454K NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 2454 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CCCCAAGCTCCTTGTCCTTCT 0.512000 60 11 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49722209 49722209 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:49722209C>T uc003cxg.3 - 14 1803 c.1731G>A c.(1729-1731)ggG>ggA p.G577G NM_020998 NP_066278 P26927 HGFL_HUMAN Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA. 563 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AGCCTGAGGGCCCACACACCA 0.612000 70 10 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 31995761 31995761 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:31995761G>A uc003jhl.3 + 3 1446 c.1058G>A c.(1057-1059)gGa>gAa p.G353E PDZD2_uc003jhm.3_Missense_Mutation_p.G353E|PDZD2_uc011cnx.1_Missense_Mutation_p.G179E NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 353 PDZ 2. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GGAGGCCGAGGATCAAAGCGC 0.532000 60 14 0 0 1 0 0 MKL1 57591 broad.mit.edu 37 22 40816901 40816901 + Missense_Mutation SNP C G G TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr22:40816901C>G uc003ayv.1 - 6 1038 c.831G>C c.(829-831)caG>caC p.Q277H MKL1_uc010gyf.1_Missense_Mutation_p.Q227H|MKL1_uc003ayw.1_Missense_Mutation_p.Q277H|MKL1_uc010gye.1_Missense_Mutation_p.Q277H NM_020831 NP_065882 Q969V6 MKL1_HUMAN Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA. 277 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GCTGCTGCTGCTGGTTGAGGA 0.657000 T RBM15 acute megakaryocytic leukemia 94 4 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41684283 41684283 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr21:41684283G>A uc002yyq.1 - 8 2239 c.1787C>T c.(1786-1788)cCg>cTg p.P596L DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 596 Ig-like C2-type 7. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.P596P(2) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TATGAAAGGCGGAACTGCAAG 0.448000 18 3 0 0 1 0 0 EHMT2 10919 broad.mit.edu 37 6 31855918 31855918 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr6:31855918G>A uc003nxz.1 - 12 1655 c.1645C>T c.(1645-1647)Ccc>Tcc p.P549S EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Missense_Mutation_p.P340S|EHMT2_uc011don.1_Missense_Mutation_p.P572S|EHMT2_uc003nya.1_Missense_Mutation_p.P515S NM_006709 NP_006700 Q96KQ7 EHMT2_HUMAN Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA. 549 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 TCACCCCGGGGGATGGTCACC 0.652000 48 6 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174541 150174541 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:150174541G>A uc003whj.3 + 4 2001 c.1671G>A c.(1669-1671)acG>acA p.T557T NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA. 557 Golgi apparatus|endoplasmic reticulum|mitochondrion GTP binding p.T557R(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) CAGACTTTACGAAATACGCGA 0.493000 92 26 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59112402 59112403 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:59112402_59112403GG>AA uc001xdw.3 + 3 1225_1226 c.1061_1062GG>AA c.(1060-1062)agg>aAA p.R354K DACT1_uc010trv.2_Missense_Mutation_p.R73K|DACT1_uc001xdx.3_Missense_Mutation_p.R317K|DACT1_uc010trw.2_Missense_Mutation_p.R73K NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA. 354 Wnt receptor signaling pathway|multicellular organismal development cytoplasm|nucleus p.R354S(2) endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 CACCCTGTAAGGACCAACAAAC 0.554000 22 6 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34064264 34064264 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr15:34064264C>T uc001zhi.3 + 62 9030 c.8960C>T c.(8959-8961)tCt>tTt p.S2987F RYR3_uc010bar.3_Missense_Mutation_p.S2987F NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 2987 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) AAAGGCGTTTCTCAGAATATT 0.453000 33 6 0 0 1 0 0 IGDCC3 9543 broad.mit.edu 37 15 65621770 65621770 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr15:65621770G>A uc002aos.2 - 12 2415 c.2163C>T c.(2161-2163)ttC>ttT p.F721F IGDCC3_uc002aor.1_Silent_p.F8F NM_004884 NP_004875 Q8IVU1 IGDC3_HUMAN Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA. 721 p.F721L(2) breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TGGCCGGGGGGAACAGCTGCT 0.637000 243 44 0 0 1 0 0 ODZ3 55714 broad.mit.edu 37 4 183714413 183714413 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr4:183714413C>T uc003ivd.1 + 24 6663 c.6588C>T c.(6586-6588)ttC>ttT p.F2196F NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 2196 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) AAGATGGTTTCCTACGTCAAA 0.488000 57 16 0 0 1 0 0 SDC3 9672 broad.mit.edu 37 1 31347210 31347210 + Missense_Mutation SNP C A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:31347210C>A uc001bse.2 - 3 1143 c.1096G>T c.(1096-1098)Gac>Tac p.D366Y SDC3_uc001bsd.2_Missense_Mutation_p.D308Y NM_014654 NP_055469 O75056 SDC3_HUMAN Homo sapiens syndecan 3 (SDC3), mRNA. 366 integral to membrane cytoskeletal protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649) CTGCCCGAGTCGATGGCATTG 0.667000 56 10 4.3838e-07 4.48695e-07 1 1 0 TNS3 64759 broad.mit.edu 37 7 47343143 47343143 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:47343143G>A uc003tnw.3 - 21 3220 c.2862C>T c.(2860-2862)ccC>ccT p.P954P TNS3_uc022acn.1_Silent_p.P511P NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN Homo sapiens tensin 3 (TNS3), mRNA. 954 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 CCATGGGCTTGGGGCTGCTCT 0.597000 7 5 0 0 1 0 0 CNBD1 168975 broad.mit.edu 37 8 88365890 88365890 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr8:88365890G>A uc003ydy.2 + 9 1227 c.1179G>A c.(1177-1179)atG>atA p.M393I NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA. 393 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 TTGTTTATATGGGGAAACTTA 0.323000 11 3 0 0 1 0 0 F7 2155 broad.mit.edu 37 13 113772793 113772793 + Missense_Mutation SNP C G G TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr13:113772793C>G uc001vsv.3 + 8 923 c.872C>G c.(871-873)cCc>cGc p.P291R F7_uc001vsw.3_Missense_Mutation_p.P269R|F7_uc010tjt.2_Missense_Mutation_p.P222R NM_000131 NP_000122 P08709 FA7_HUMAN Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA. 291 Peptidase S1. anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis Golgi lumen|endoplasmic reticulum lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) GTCATCATCCCCAGCACGTAC 0.682000 145 9 0 0 1 0 0 OSBPL5 114879 broad.mit.edu 37 11 3115487 3115487 + Nonsense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr11:3115487G>A uc001lxk.2 - 14 1857 c.1699C>T c.(1699-1701)Cag>Tag p.Q567* OSBPL5_uc010qxq.1_Nonsense_Mutation_p.Q478*|OSBPL5_uc009ydw.2_Nonsense_Mutation_p.Q499*|OSBPL5_uc001lxl.2_Nonsense_Mutation_p.Q499*|OSBPL5_uc009ydx.3_Nonsense_Mutation_p.Q591*|OSBPL5_uc001lxj.2_Nonsense_Mutation_p.Q21* NM_020896 NP_065947 Q9H0X9 OSBL5_HUMAN Homo sapiens oxysterol binding protein-like 5 (OSBPL5), transcript variant 1, mRNA. 567 Golgi to plasma membrane transport|cholesterol metabolic process|cholesterol transport cytosol oxysterol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 25 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) AATTCCAGCTGGGCCTGGAAG 0.597000 43 8 0 0 1 0 0 SIN3A 25942 broad.mit.edu 37 15 75693210 75693210 + Missense_Mutation SNP T A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr15:75693210T>A uc002bai.3 - 10 1857 c.1598A>T c.(1597-1599)tAt>tTt p.Y533F SIN3A_uc002baj.3_Missense_Mutation_p.Y533F|SIN3A_uc010uml.2_Missense_Mutation_p.Y533F NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA. 533 Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130. blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent Sin3 complex|nucleolus protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 CTCCTTTGGATAAGTTTCCAG 0.418000 31 3 0 0 1 0 0 SEC24C 9632 broad.mit.edu 37 10 75530502 75530502 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr10:75530502G>A uc001juw.3 + 22 3270 c.3090G>A c.(3088-3090)aaG>aaA p.K1030K SEC24C_uc001jux.3_Silent_p.K1030K|SEC24C_uc010qko.2_Silent_p.K911K|SEC24C_uc010qkp.2_Silent_p.K278K|SEC24C_uc010qkq.2_Silent_p.K278K|FUT11_uc001juy.1_5'Flank|FUT11_uc001juz.1_5'Flank|FUT11_uc001jva.3_5'Flank NM_004922 NP_940999 P53992 SC24C_HUMAN Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA. 1030 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) CACTGTCCAAGAAGGTTCGAG 0.463000 80 14 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195515025 195515025 + Silent SNP A G G TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:195515025A>G uc021xjp.1 - 1 3582 c.3426T>C c.(3424-3426)acT>acC p.T1142T MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA. 1019 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.T1142T(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ATACTGAGGAAGTGTCGGTGA 0.562000 5 3 0 0 1 0 0 ATP8A2 51761 broad.mit.edu 37 13 26129185 26129185 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr13:26129185C>T uc001uqk.3 + 12 1384 c.1242C>T c.(1240-1242)aaC>aaT p.N414N ATP8A2_uc010tdi.2_Silent_p.N374N|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc001uql.1_Silent_p.N374N NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA. 374 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.S413*(2) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) GGACATCAAACCTTAATGAAG 0.428000 28 3 0 0 1 0 0 MUM1L1 139221 broad.mit.edu 37 X 105450805 105450805 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chrX:105450805G>A uc022cca.1 + 0 1380 c.1380G>A c.(1378-1380)gaG>gaA p.E460E MUM1L1_uc004emg.2_Silent_p.E460E|MUM1L1_uc004emf.2_Silent_p.E460E NM_001171020 NP_001164491 Q5H9M0 MUML1_HUMAN Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA. 460 p.E460Q(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 AAGCCAGGGAGGATTATAGTG 0.358000 30 6 0 0 1 0 0 RAB11FIP3 9727 broad.mit.edu 37 16 555569 555569 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr16:555569G>A uc002chf.3 + 7 1780 c.1441G>A c.(1441-1443)Gca>Aca p.A481T RAB11FIP3_uc010uuf.2_Missense_Mutation_p.A185T|RAB11FIP3_uc010uug.2_Missense_Mutation_p.A216T NM_014700 NP_055515 O75154 RFIP3_HUMAN Homo sapiens RAB11 family interacting protein 3 (class II) (RAB11FIP3), transcript variant 1, mRNA. 481 cell cycle|cytokinesis|endocytic recycling|protein transport centrosome|cleavage furrow|midbody|recycling endosome membrane ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1) 12 Hepatocellular(16;0.0218) AAAGGACACGGCAGCCACCGG 0.642000 18 8 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89346628 89346628 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr16:89346628C>T uc002fmx.1 - 8 6783 c.6322G>A c.(6322-6324)Ggc>Agc p.G2108S ANKRD11_uc002fmy.1_Missense_Mutation_p.G2108S|ANKRD11_uc002fnc.1_Missense_Mutation_p.G2108S|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.G2065S NM_013275 NP_037407 Q6UB99 ANR11_HUMAN Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA. 2108 Pro-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TGAGACAGGCCGCGGCTGCCG 0.731000 12 4 0 0 1 0 0 GPC1 2817 broad.mit.edu 37 2 241404942 241404942 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:241404942G>A uc002vyw.4 + 7 1542 c.1321G>A c.(1321-1323)Gag>Aag p.E441K NM_002081 NP_002072 P35052 GPC1_HUMAN Homo sapiens glypican 1 (GPC1), mRNA. 441 axon guidance anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 9 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949) CAACAACCCCGAGGTGGAGGT 0.622000 103 14 0 0 1 0 0 NLRX1 79671 broad.mit.edu 37 11 119044728 119044728 + Missense_Mutation SNP G C C TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr11:119044728G>C uc001pvu.3 + 4 985 c.770G>C c.(769-771)gGa>gCa p.G257A NLRX1_uc010rzc.1_Missense_Mutation_p.G79A|NLRX1_uc001pvv.3_Missense_Mutation_p.G257A|NLRX1_uc001pvw.3_Missense_Mutation_p.G257A|NLRX1_uc001pvx.3_Missense_Mutation_p.G257A NM_024618 NP_078894 Q86UT6 NLRX1_HUMAN Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA. 257 NACHT.|Required for interaction with MAVS. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding p.T256T(1) cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GCAGGCACGGGACTTTGTAGT 0.592000 64 9 0 0 1 0 0 DDHD1 80821 broad.mit.edu 37 14 53513522 53513522 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:53513522G>A uc001xai.3 - 12 2897 c.2667C>T c.(2665-2667)caC>caT p.H889H DDHD1_uc001xaj.3_Silent_p.H868H|DDHD1_uc001xah.3_Silent_p.H861H|DDHD1_uc001xag.3_Silent_p.H443H NM_001160148 NP_001153620 Q8NEL9 DDHD1_HUMAN Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA. 889 lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) CATCATCATCGTGCTCATGTT 0.398000 66 7 0 0 1 0 0 ASMTL 8623 broad.mit.edu 37 X 1522331 1522331 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chrX:1522331G>A uc004cpx.2 - 12 1834 c.1697C>T c.(1696-1698)gCg>gTg p.A566V CRLF2_uc022brt.1_Intron|ASMTL-AS1_uc004cpv.3_Intron|ASMTL-AS1_uc004cpw.3_Intron|ASMTL_uc004cpy.2_Missense_Mutation_p.A550V|ASMTL_uc011mhe.2_Missense_Mutation_p.A490V|ASMTL_uc011mhf.2_Missense_Mutation_p.A508V NM_004192 NP_001166944 O95671 ASML_HUMAN Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA. 566 ASMT-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGCGCGCTGCGCCACCCTCTT 0.652000 117 16 0 0 1 0 0 PTMA 5757 broad.mit.edu 37 2 232576081 232576081 + Silent SNP T C C TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:232576081T>C uc002vsc.4 + 1 251 c.69T>C c.(67-69)gtT>gtC p.V23V PTMA_uc002vsb.4_Silent_p.V23V|PTMA_uc010zmf.2_Non-coding_Transcript|PTMA_uc021vyc.1_5'Flank NM_001099285 NP_001092755 P06454 PTMA_HUMAN Homo sapiens prothymosin, alpha (PTMA), transcript variant 1, mRNA. 23 transcription, DNA-dependent nucleus lung(3)|ovary(1)|prostate(1)|skin(1) 6 Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142) Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) AGAAGGAAGTTGTGGAAGAGG 0.502000 59 6 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19211483 19211483 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr22:19211483G>A uc021wle.1 - 13 2298 c.2223C>T c.(2221-2223)atC>atT p.I741I CLTCL1_uc021wld.1_Silent_p.I741I|CLTCL1_uc021wlc.1_Silent_p.I741I|CLTCL1_uc021wlf.1_Silent_p.I741I|CLTCL1_uc011agw.1_Silent_p.I741I NM_007098 NP_009029 P53675 CLH2_HUMAN Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA. 741 Heavy chain arm.|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) CCACCTCCTTGATCTGCCCTG 0.522000 T ? ALCL 54 11 0 0 1 0 0 OR11H6 122748 broad.mit.edu 37 14 20692607 20692607 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:20692607C>T uc010tlc.2 + 0 739 c.739C>T c.(739-741)Ccc>Tcc p.P247S NM_001004480 NP_001004480 Q8NGC7 O11H6_HUMAN Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA. 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P247H(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) GCTTTGTATTCCCTCTGGTGC 0.473000 25 5 0 0 1 0 0 ME2 4200 broad.mit.edu 37 18 48473491 48473491 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr18:48473491C>T uc002ley.3 + 15 1951 c.1692C>T c.(1690-1692)tcC>tcT p.S564S ME2_uc010dpd.3_3'UTR NM_002396 NP_002387 P23368 MAOM_HUMAN Homo sapiens malic enzyme 2, NAD(+)-dependent, mitochondrial (ME2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 564 malate metabolic process mitochondrial matrix NAD binding|electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3) 23 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) AATATGATTCCCTGCTGCCAG 0.433000 64 25 0 0 1 0 0 SPATA13 221178 broad.mit.edu 37 13 24823810 24823810 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr13:24823810C>T uc001upd.2 + 4 2427 c.1849C>T c.(1849-1851)Cgt>Tgt p.R617C SPATA13_uc001upe.3_Intron|SPATA13_uc021rhg.1_Missense_Mutation_p.R617C|SPATA13_uc001upg.2_5'UTR|SPATA13_uc010tcy.1_5'Flank|SPATA13_uc010tcz.2_5'Flank NM_153023 NP_694568 Q96N96 SPT13_HUMAN Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA. 0 C-terminal tail. cell migration|filopodium assembly|lamellipodium assembly|regulation of Rho protein signal transduction|regulation of cell migration cytoplasm|filopodium|lamellipodium|ruffle membrane Rac guanyl-nucleotide exchange factor activity|protein binding breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) GAAGGAAGACCGTGTGGACGA 0.622000 120 12 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027156 37027156 + Missense_Mutation SNP C G G TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chrX:37027156C>G uc004ddl.2 + 0 725 c.673C>G c.(673-675)Cag>Gag p.Q225E NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 225 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 TCTCCGCCCACAGCCTCCCAA 0.647000 46 4 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61986959 61986959 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr13:61986959C>T uc001vid.4 - 1 1637 c.1273G>A c.(1273-1275)Gaa>Aaa p.E425K PCDH20_uc010thj.2_Missense_Mutation_p.E425K NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN Homo sapiens protocadherin 20 (PCDH20), mRNA. 398 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A425A(1) breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) GGGACAATTTCAGGGGGTCTG 0.448000 66 13 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75865438 75865438 + Missense_Mutation SNP C G G TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr6:75865438C>G uc021zbv.1 - 14 3418 c.3383G>C c.(3382-3384)aGa>aCa p.R1128T COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.R1128T|COL12A1_uc003pht.3_Intron NM_004370 NP_004361 Q99715 COCA1_HUMAN Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA. 1128 Fibronectin type-III 8. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CCCCAGTCTTCTGTCATCCCC 0.468000 64 3 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563208 140563208 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:140563208G>A uc003liv.3 + 0 2229 c.1074G>A c.(1072-1074)gaG>gaA p.E358E NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN Homo sapiens protocadherin beta 16 (PCDHB16), mRNA. 358 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.P357A(1) breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCATCCCAGAGAACTCGCCTG 0.522000 91 8 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228886617 228886617 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:228886617G>A uc002vpq.2 - 5 554 c.507C>T c.(505-507)aaC>aaT p.N169N SPHKAP_uc002vpp.2_Silent_p.N169N|SPHKAP_uc010zlx.1_Silent_p.N169N NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 169 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) AGATGATGCAGTTGGTACTGT 0.443000 31 7 0 0 1 0 0 OR2K2 26248 broad.mit.edu 37 9 114090456 114090456 + Silent SNP C G G TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr9:114090456C>G uc011lwp.2 - 0 258 c.258G>C c.(256-258)ctG>ctC p.L86L NM_205859 NP_995581 Q8NGT1 OR2K2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA. 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2) 20 TCTGGGATGACAGCAAGTTCA 0.468000 28 3 0 0 1 0 0 PER3 8863 broad.mit.edu 37 1 7861237 7861237 + Silent SNP T C C TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:7861237T>C uc001aop.3 + 6 1082 c.858T>C c.(856-858)ctT>ctC p.L286L PER3_uc009vmg.1_Silent_p.L286L|PER3_uc009vmh.1_Silent_p.L286L|PER3_uc001aoo.3_Silent_p.L285L|PER3_uc010nzw.2_5'UTR|PER3_uc001aon.3_Silent_p.L285L NM_016831 NP_058515 P56645 PER3_HUMAN Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA. 285 PAS 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) GTGTTTTTCTTGAAGTAGATG 0.328000 56 6 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140794689 140794689 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:140794689C>T uc003lkl.2 + 0 1947 c.1947C>T c.(1945-1947)gcC>gcT p.A649A 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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Silent_p.A649A|PCDHGC5_uc003lkm.3_5'Flank|PCDHGC5_uc003lkn.2_5'Flank NM_018913 NP_061736 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA. 647 Cadherin 6. 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) TCGTAGTGGCCGTCCAGGACC 0.711000 119 12 0 0 1 0 0 FCGR3A 2214 broad.mit.edu 37 1 161514743 161514743 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:161514743G>A uc001gar.3 - 3 617 c.433C>T c.(433-435)Ctg>Ttg p.L145L FCGR3A_uc001gas.3_Silent_p.L144L|FCGR3A_uc001gat.4_Silent_p.L109L|FCGR3A_uc009wuh.3_Silent_p.L108L|FCGR3A_uc009wui.3_Silent_p.L109L NM_000569 NP_001121067 P08637 FCG3A_HUMAN Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA. 109 Ig-like C2-type 2. immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TGGAGCAACAGCCAGCCTGAA 0.562000 17 7 0 0 1 0 0 PRPF6 24148 broad.mit.edu 37 20 62655924 62655924 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr20:62655924C>T uc002yho.3 + 13 1954 c.1786C>T c.(1786-1788)Ctc>Ttc p.L596F PRPF6_uc002yhp.3_Missense_Mutation_p.L596F NM_012469 NP_036601 O94906 PRP6_HUMAN Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA. 596 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) CCTGGAAGCACTCCTGCAGAG 0.622000 64 16 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54735191 54735191 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr6:54735191G>A uc003pck.3 + 1 263 c.147G>A c.(145-147)caG>caA p.Q49Q NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 49 p.Q49L(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TTCTTGTCCAGGAACGAGTTT 0.388000 43 4 0 0 1 0 0 RANBP9 10048 broad.mit.edu 37 6 13711709 13711709 + Missense_Mutation SNP G T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr6:13711709G>T uc003nbb.3 - 0 88 c.29C>A c.(28-30)cCg>cAg p.P10Q NM_005493 NP_005484 Q96S59 RANB9_HUMAN Homo sapiens RAN binding protein 9 (RANBP9), mRNA. 10 Poly-Pro. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) ctgctgctgcggcggcggcgg 0.761000 20 3 0.115264 0.115707 1 1 0 CD177 57126 broad.mit.edu 37 19 43859822 43859822 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr19:43859822C>T uc002owi.3 + 3 431 c.389C>T c.(388-390)tCc>tTc p.S130F CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript NM_020406 NP_065139 Q8N6Q3 CD177_HUMAN Homo sapiens CD177 molecule (CD177), mRNA. 130 blood coagulation|leukocyte migration anchored to membrane|plasma membrane p.M129I(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) GACCCAGGATCCTTGAGGTGC 0.547000 89 10 0 0 1 0 0 GPN2 54707 broad.mit.edu 37 1 27215604 27215604 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:27215604G>A uc001bnd.1 - 1 706 c.424C>T c.(424-426)Cac>Tac p.H142Y BC016143_uc021ojq.1_Intron NM_018066 NP_060536 Q9H9Y4 GPN2_HUMAN Homo sapiens GPN-loop GTPase 2 (GPN2), mRNA. 142 GTP binding endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 TCCACGAGGTGGACGGCAGTC 0.557000 47 6 0 0 1 0 0 C12orf50 160419 broad.mit.edu 37 12 88391952 88391952 + Missense_Mutation SNP T A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr12:88391952T>A uc001tam.1 - 3 317 c.149A>T c.(148-150)aAa>aTa p.K50I C12orf50_uc001tan.3_Missense_Mutation_p.K104I NM_152589 NP_689802 Q8NA57 CL050_HUMAN Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA. 50 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 CTGAATTTCTTTCTGTAGTGT 0.373000 20 5 0 0 1 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2408369 2408369 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr19:2408369G>A uc010xgx.2 + 6 756 c.756G>A c.(754-756)acG>acA p.T252T TMPRSS9_uc002lvv.1_Silent_p.T286T NM_182973 NP_892018 Q7Z410 TMPS9_HUMAN Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA. 252 Peptidase S1 1. proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 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) AAGACCCGACGAAGTGGGTGG 0.657000 53 16 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140181765 140181765 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:140181765C>T uc003lhf.2 + 0 983 c.983C>T c.(982-984)cCc>cTc p.P328L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.P328L NM_018906 NP_061729 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA. 343 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAGGAAATCCCCCAATGTCA 0.373000 88 4 0 0 1 0 0 OTOL1 131149 broad.mit.edu 37 3 161220127 161220127 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:161220127C>T uc011bpb.2 + 2 487 c.487C>T c.(487-489)Cca>Tca p.P163S NM_001080440 NP_001073909 A6NHN0 OTOL1_HUMAN Homo sapiens otolin 1 (OTOL1), mRNA. 163 Collagen-like 1. collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 CCAAGGAGTTCCAGGATACCC 0.423000 33 3 0 0 1 0 0 JPH3 57338 broad.mit.edu 37 16 87678630 87678630 + Silent SNP C T T rs140186033 by1000genomes TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr16:87678630C>T uc002fkd.3 + 1 1403 c.1149C>T c.(1147-1149)atC>atT p.I383I JPH3_uc010vou.1_Non-coding_Transcript NM_020655 NP_065706 Q8WXH2 JPH3_HUMAN Homo sapiens junctophilin 3 (JPH3), mRNA. 383 Ala-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) AGGCTGAGATCGCGGCTTCCA 0.672000 31 3 0 0 1 0 0 TCTE1 202500 broad.mit.edu 37 6 44253763 44253763 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr6:44253763G>A uc003oxi.2 - 2 940 c.784C>T c.(784-786)Ctc>Ttc p.L262F TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron NM_182539 NP_872345 Q5JU00 TCTE1_HUMAN Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA. 262 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TAGGTGAAGAGGAAGAGATTC 0.592000 126 11 0 0 1 0 0 BTNL3 10917 broad.mit.edu 37 5 180419923 180419923 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:180419923C>T uc003mmr.3 + 1 344 c.160C>T c.(160-162)Cgg>Tgg p.R54W NM_197975 NP_932079 Q6UXE8 BTNL3_HUMAN Homo sapiens butyrophilin-like 3 (BTNL3), mRNA. 54 lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) TATGGAAGTGCGGTTCTTCAG 0.552000 80 4 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516182 140516182 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:140516182C>T uc003liq.3 + 0 1383 c.1166C>T c.(1165-1167)cCc>cTc p.P389L NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN Homo sapiens protocadherin beta 5 (PCDHB5), mRNA. 389 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AATGATCTCCCCTTTCTTTTG 0.473000 45 3 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19483608 19483608 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:19483608C>T uc003jgd.3 - 11 2218 c.1684G>A c.(1684-1686)Gat>Aat p.D562N CDH18_uc011cnm.2_Intron|CDH18_uc003jgc.3_Missense_Mutation_p.D562N|CDH18_uc021xwu.1_Intron NM_004934 NP_004925 Q13634 CAD18_HUMAN Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA. 562 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D562Y(3) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TAATACACATCCTGAACAGTT 0.468000 60 7 0 0 1 0 0 PLA2G3 50487 broad.mit.edu 37 22 31536101 31536101 + Silent SNP G A A rs148262601 TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr22:31536101G>A uc003aka.3 - 0 369 c.240C>T c.(238-240)acC>acT p.T80T NM_015715 NP_056530 Q9NZ20 PA2G3_HUMAN Homo sapiens phospholipase A2, group III (PLA2G3), mRNA. 80 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 CGTAGGCTGCGGTGAGCTCCG 0.632000 80 12 0 0 1 0 0 IGSF9 57549 broad.mit.edu 37 1 159899999 159899999 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:159899999G>A uc001fur.2 - 14 2242 c.2044C>T c.(2044-2046)Ctg>Ttg p.L682L IGSF9_uc001fuq.2_Silent_p.L666L|IGSF9_uc001fup.2_5'UTR NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA. 682 Fibronectin type-III 2. cell junction|integral to membrane|synapse p.A682A(1) central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) CCTGGCACCAGCAGCTCTGTT 0.597000 135 22 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24135199 24135199 + Missense_Mutation SNP C T T rs139055681 byFrequency TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr16:24135199C>T uc002dmd.3 + 8 1159 c.962C>T c.(961-963)aCg>aTg p.T321M PRKCB_uc002dme.3_Missense_Mutation_p.T321M NM_212535 NP_997700 P05771 KPCB_HUMAN Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA. 321 B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) GAAGAAAAGACGACCAACACT 0.483000 61 13 0 0 1 0 0 SMC6 79677 broad.mit.edu 37 2 17846834 17846834 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:17846834G>A uc002rco.3 - 27 3504 c.3208C>T c.(3208-3210)Cct>Tct p.P1070S SMC6_uc010exo.3_Missense_Mutation_p.P1070S|SMC6_uc002rcn.3_Missense_Mutation_p.P1070S NM_001142286 NP_078900 Q96SB8 SMC6_HUMAN Homo sapiens structural maintenance of chromosomes 6 (SMC6), transcript variant 1, mRNA. 1070 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CCTCTTTCAGGATCAGACATT 0.368000 54 3 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175046756 175046756 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:175046756G>A uc001gkl.1 + 1 315 c.202G>A c.(202-204)Gat>Aat p.D68N TNN_uc010pmx.1_Missense_Mutation_p.D68N NM_022093 NP_071376 Q9UQP3 TENN_HUMAN Homo sapiens tenascin N (TNN), mRNA. 68 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CCTCAGTGACGATGGGGCTTC 0.577000 46 19 0 0 1 0 0 TCL1A 8115 broad.mit.edu 37 14 96178665 96178665 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:96178665G>A uc001yfc.4 - 1 319 c.189C>T c.(187-189)acC>acT p.T63T TCL1A_uc001yfb.4_Silent_p.T63T NM_001098725 NP_068801 P56279 TCL1A_HUMAN Homo sapiens T-cell leukemia/lymphoma 1A (TCL1A), transcript variant 2, mRNA. 63 multicellular organismal development endoplasmic reticulum|microsome haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) TCTGGGTGGGGGTCATAGGCC 0.547000 T TRA@ T-CLL 102 18 0 0 1 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65347927 65347927 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr11:65347927C>T uc001oeo.4 + 5 876 c.611C>T c.(610-612)gCc>gTc p.A204V NM_001099409 NP_001092879 Q8N3D4 EH1L1_HUMAN Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA. 204 central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 GCCCCGGAGGCCCGGGCTCGA 0.627000 78 5 0 0 1 0 0 CLCA1 1179 broad.mit.edu 37 1 86964337 86964337 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:86964337C>T uc001dlt.3 + 12 2456 c.2196C>T c.(2194-2196)tcC>tcT p.S732S NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN Homo sapiens chloride channel accessory 1 (CLCA1), mRNA. 732 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) GCAGAACATCCTCGGGAGGCT 0.448000 113 9 0 0 1 0 0 GALNTL2 117248 broad.mit.edu 37 3 16217065 16217066 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:16217065_16217066GG>AA uc003car.4 + 0 882_883 c.407_408GG>AA c.(406-408)ggg>gAA p.G136E GALNTL2_uc003caq.4_Intron NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA. 136 Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1) 33 AGGGACTGGGGGGCTGATGAGG 0.639000 29 8 0 0 1 0 0 EGR3 1960 broad.mit.edu 37 8 22548017 22548017 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr8:22548017G>A uc003xcm.1 - 1 1491 c.1133C>T c.(1132-1134)tCg>tTg p.S378L EGR3_uc011kzn.1_Missense_Mutation_p.S340L|EGR3_uc011kzo.2_Missense_Mutation_p.S324L NM_004430 NP_001186810 Q06889 EGR3_HUMAN Homo sapiens early growth response 3 (EGR3), transcript variant 1, mRNA. 378 circadian rhythm|muscle organ development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Prostate(55;0.0421)|Breast(100;0.102) Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608) GGGGGCCAGCGACACGGGGGG 0.672000 47 4 0 0 1 0 0 UBA7 7318 broad.mit.edu 37 3 49850559 49850559 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:49850559C>T uc003cxr.3 - 3 574 c.403G>A c.(403-405)Gtg>Atg p.V135M NM_003335 NP_003326 P41226 UBA7_HUMAN Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA. 135 2 approximate repeats. ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) AAGGTGCCCACCTTCAGCTGC 0.582000 54 16 0 0 1 0 0 OR2T11 127077 broad.mit.edu 37 1 248790279 248790279 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:248790279G>A uc001ier.1 - 0 151 c.151C>T c.(151-153)Cgc>Tgc p.R51C NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA. 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(20)|skin(2) 28 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GTGTGGAGGCGAGAGTCCACC 0.498000 87 23 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149492394 149492394 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:149492394C>T uc010lpk.3 + 41 6274 c.6274C>T c.(6274-6276)Ctg>Ttg p.L2092L NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 2095 F5/8 type C. cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGCTGCCCTCCTGGGGGCTCC 0.677000 70 7 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296152 39296152 + Silent SNP A G G TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:39296152A>G uc010cxk.2 - 0 588 c.588T>C c.(586-588)cgT>cgC p.R196R NM_030976 NP_112238 Q9BYQ5 KRA46_HUMAN Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA. 192 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 AGCACAAGGGACGGGGGCAGG 0.597000 18 3 0 0 1 0 0 TMEM131 23505 broad.mit.edu 37 2 98382600 98382600 + Missense_Mutation SNP A T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:98382600A>T uc002syh.4 - 34 4929 c.4700T>A c.(4699-4701)gTt>gAt p.V1567D NM_015348 NP_056163 Q92545 TM131_HUMAN Homo sapiens transmembrane protein 131 (TMEM131), mRNA. 1567 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 GTGAACTGGAACGGAATCCCA 0.507000 56 10 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12501446 12501446 + Missense_Mutation SNP T C C TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr19:12501446T>C uc010dyt.3 - 3 1970 c.1766A>G c.(1765-1767)gAa>gGa p.E589G ZNF799_uc002mts.4_Intron NM_001080821 NP_001074290 Q96GE5 ZN799_HUMAN Homo sapiens zinc finger protein 799 (ZNF799), mRNA. 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TTCCTTACATTCATACGGGTT 0.413000 26 3 0 0 1 0 0 MAP2K1 5604 broad.mit.edu 37 15 66774131 66774131 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr15:66774131G>A uc010bhq.3 + 5 1082 c.607G>A c.(607-609)Gag>Aag p.E203K MAP2K1_uc010ujp.2_Missense_Mutation_p.E181K NM_002755 NP_002746 Q02750 MP2K1_HUMAN Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA. 203 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E203K(6) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 CTCCCGTGGGGAGATCAAGCT 0.522000 88 26 0 0 1 0 0 CCL11 6356 broad.mit.edu 37 17 32614164 32614164 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:32614164C>T uc002hia.1 + 1 267 c.126C>T c.(124-126)ccC>ccT p.P42P NM_002986 NP_002977 P51671 CCL11_HUMAN Homo sapiens chemokine (C-C motif) ligand 11 (CCL11), mRNA. 42 cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of Rac GTPase activity|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|protein phosphorylation|response to radiation|response to virus|signal transduction extracellular space chemokine activity breast(1)|lung(1)|prostate(1) 3 Breast(3;0.00224) Breast(31;0.151)|Ovarian(249;0.17) BRCA - Breast invasive adenocarcinoma(366;0.155) GGAAGATACCCCTTCAGCGAC 0.433000 58 4 0 0 1 0 0 CRYBB1 1414 broad.mit.edu 37 22 27008142 27008142 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr22:27008142C>T uc003acy.1 - 2 263 c.193G>A c.(193-195)Gaa>Aaa p.E65K NM_001887 NP_001878 P53674 CRBB1_HUMAN Homo sapiens crystallin, beta B1 (CRYBB1), mRNA. 65 Beta/gamma crystallin 'Greek key' 1. visual perception structural constituent of eye lens p.E65K(2) breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4) 31 TTTTCCAGTTCGAAGACCACC 0.537000 79 20 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85660250 85660251 + Missense_Mutation DNP CC TT TT rs140312391 TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr4:85660250_85660251CC>TT uc003hpd.3 - 39 6894_6895 c.6486_6487GG>AA c.(6484-6489)ctggaa>ctAAaa p.E2163K NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA. 2163 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GCTTCTGCTTCCAGTCCAAATC 0.401000 45 10 0 0 1 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99128995 99128995 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:99128995C>T uc003uqv.3 + 6 1767 c.1643C>T c.(1642-1644)cCa>cTa p.P548L ZKSCAN5_uc010lfx.3_Missense_Mutation_p.P548L|ZKSCAN5_uc003uqw.3_Missense_Mutation_p.P548L|ZKSCAN5_uc003uqx.3_Missense_Mutation_p.P475L|ZKSCAN5_uc003uqy.3_Missense_Mutation_p.P284L NM_145102 NP_659570 Q9Y2L8 ZKSC5_HUMAN Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA. 548 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 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) GGAGAGAGACCACATAAATGT 0.418000 61 7 0 0 1 0 0 ZC4H2 55906 broad.mit.edu 37 X 64138925 64138925 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chrX:64138925C>T uc004dvu.3 - 3 714 c.558G>A c.(556-558)atG>atA p.M186I ZC4H2_uc004dvv.3_Missense_Mutation_p.M163I|ZC4H2_uc022byd.1_Missense_Mutation_p.M163I|ZC4H2_uc022byc.1_Missense_Mutation_p.M163I|ZC4H2_uc011mow.2_Intron|ZC4H2_uc011mov.2_Missense_Mutation_p.M163I|ZC4H2_uc004dvw.2_3'UTR NM_018684 NP_001230733 Q9NQZ6 ZC4H2_HUMAN Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA. 186 metal ion binding|protein binding endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 CACTTACCTTCATAGGTGGGG 0.577000 34 13 0 0 1 0 0 KAT6B 23522 broad.mit.edu 37 10 76739017 76739017 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr10:76739017C>T uc001jwn.1 + 9 2644 c.2151C>T c.(2149-2151)ggC>ggT p.G717G KAT6B_uc001jwm.1_Silent_p.G425G|KAT6B_uc001jwo.1_Silent_p.G425G|KAT6B_uc001jwp.1_Silent_p.G534G NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA. 717 Negatively regulates HAT activity. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding AAGACTGTGGCCGGTACCCTT 0.383000 36 7 0 0 1 0 0 KCNC1 3746 broad.mit.edu 37 11 17793307 17793307 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr11:17793307G>A uc009yhc.1 + 1 721 c.666G>A c.(664-666)acG>acA p.T222T KCNC1_uc001mnk.4_Silent_p.T222T NM_001112741 NP_001106212 P48547 KCNC1_HUMAN Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA. 222 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 TGAACAAGACGGAGATCGAGA 0.582000 67 6 0 0 1 0 0 CT47B1 643311 broad.mit.edu 37 X 120009253 120009253 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chrX:120009253G>A uc011muc.2 - 0 527 c.272C>T c.(271-273)aCg>aTg p.T91M NM_001145718 NP_001139190 P0C2W7 CT47B_HUMAN Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA. 91 p.T91M(2) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 ctcttcctccGTCGCGGGCCC 0.706000 12 4 0 0 1 0 0 CTSC 1075 broad.mit.edu 37 11 88033712 88033712 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr11:88033712G>A uc001pck.4 - 4 844 c.743C>T c.(742-744)cCt>cTt p.P248L CTSC_uc001pcl.4_Missense_Mutation_p.P100L NM_001814 NP_001805 P53634 CATC_HUMAN Homo sapiens cathepsin C (CTSC), transcript variant 1, mRNA. 248 immune response lysosome cysteine-type endopeptidase activity large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2) 22 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GTTTCGAACAGGACTGACAAA 0.383000 37 3 0 0 1 0 0 TMEM189-UBE2V1 387522 broad.mit.edu 37 20 48700666 48700666 + Splice_Site SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr20:48700666C>T uc002xva.3 - 3 342 c.297_splice c.e3+1 p.V99_splice TMEM189-UBE2V1_uc002xvf.3_Splice_Site_p.V322_splice|TMEM189-UBE2V1_uc002xvb.3_Splice_Site|TMEM189-UBE2V1_uc002xvc.3_Splice_Site_p.V55_splice|TMEM189-UBE2V1_uc002xvd.3_Splice_Site_p.V122_splice|TMEM189-UBE2V1_uc002xve.3_Splice_Site_p.V122_splice NM_001032288 NP_001027459 A5PLL7 TM189_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2 variant 1 (UBE2V1), transcript variant 4, mRNA. 0 endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(4)|large_intestine(6)|lung(6) 17 BRCA - Breast invasive adenocarcinoma(9;8.29e-07) AACAACTTACCACTCCATTAG 0.388000 39 7 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 10973694 10973694 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:10973694G>A uc003jfa.1 - 21 3694 c.3549C>T c.(3547-3549)agC>agT p.S1183S CTNND2_uc010itt.2_Silent_p.S1092S|CTNND2_uc011cmy.1_Silent_p.S846S|CTNND2_uc011cmz.1_Silent_p.S750S|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.S775S NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 1183 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding p.S1183S(2) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TGGTGTACTCGCTGGCGGGAG 0.522000 105 23 0 0 1 0 0 SLC34A3 142680 broad.mit.edu 37 9 140126553 140126553 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr9:140126553G>A uc022bqf.1 + 2 336 c.115G>A c.(115-117)Gaa>Aaa p.E39K SLC34A3_uc004cmc.1_5'UTR|SLC34A3_uc011met.2_Missense_Mutation_p.E39K|SLC34A3_uc004cmf.1_Missense_Mutation_p.E39K NM_001177316 NP_543153 Q8N130 NPT2C_HUMAN Homo sapiens solute carrier family 34 (sodium phosphate), member 3 (SLC34A3), transcript variant 1, mRNA. 39 cellular phosphate ion homeostasis apical plasma membrane|integral to membrane sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) AGTCTTGGAGGAAGGGGACAC 0.627000 240 26 0 0 1 0 0 KIR2DL2 3803 broad.mit.edu 37 GL000209.1 112319 112319 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chrGL000209.1:112319G>A uc002qtt.2 + 6 881 c.852G>A c.(850-852)ggG>ggA p.G284G KIR2DL2_uc021vdc.1_5'Flank|KIR2DL2_uc021vdd.1_5'Flank|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Silent_p.G284G|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_Silent_p.G284G|KIR2DL2_uc002qum.3_5'Flank NM_012313 NP_036445 P43627 KI2L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3 (KIR2DS3), mRNA. 283 regulation of immune response integral to membrane|plasma membrane receptor activity GGCCTGCGGGGAACAGAACAG 0.522000 50 9 0 0 1 0 0 NAGK 55577 broad.mit.edu 37 2 71303799 71303799 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:71303799C>T uc002shr.3 + 6 2556 c.580C>T c.(580-582)Cac>Tac p.H194Y NAGK_uc002shp.4_Missense_Mutation_p.H291Y|NAGK_uc002shq.4_Missense_Mutation_p.H96Y Q9UJ70 NAGK_HUMAN Homo sapiens N-acetylglucosamine kinase (NAGK), mRNA. 245 N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process ATP binding|N-acetylglucosamine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1) 18 N-Acetyl-D-glucosamine(DB00141) GCTGGGCAGACACATCGTAGC 0.592000 81 8 0 0 1 0 0 SLC5A12 159963 broad.mit.edu 37 11 26714069 26714069 + Missense_Mutation SNP C T T rs139478059 TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr11:26714069C>T uc001mra.2 - 8 1433 c.1120G>A c.(1120-1122)Gac>Aac p.D374N SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Missense_Mutation_p.D374N NM_178498 NP_848593 Q1EHB4 SC5AC_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA. 374 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 CTCAGCTTGTCGGAGAGATGA 0.438000 52 4 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82815203 82815203 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:82815203G>A uc003kii.3 + 6 1434 c.1078G>A c.(1078-1080)Gca>Aca p.A360T VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.A360T|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN Homo sapiens versican (VCAN), transcript variant 1, mRNA. 360 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GAGTATCCTCGCAGAAACTGC 0.368000 100 7 0 0 1 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530763 140530763 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:140530763G>A uc003lir.3 + 0 925 c.925G>A c.(925-927)Gaa>Aaa p.E309K NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN Homo sapiens protocadherin beta 6 (PCDHB6), mRNA. 309 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGATTTTGAGGAAATTCAGTC 0.463000 63 5 0 0 1 0 0 DDI1 414301 broad.mit.edu 37 11 103908196 103908196 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr11:103908196G>A uc001phr.2 + 0 889 c.646G>A c.(646-648)Gag>Aag p.E216K PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA. 216 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) CAAAATAGAAGAGGAAATCCG 0.488000 87 9 0 0 1 0 0 UBXN7 26043 broad.mit.edu 37 3 196098779 196098779 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:196098779G>A uc003fwm.4 - 5 678 c.603C>T c.(601-603)ttC>ttT p.F201F UBXN7_uc003fwn.4_Silent_p.F53F|UBXN7_uc010iae.3_Silent_p.F39F NM_015562 NP_056377 O94888 UBXN7_HUMAN Homo sapiens UBX domain protein 7 (UBXN7), mRNA. 201 protein binding NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 GCCAGAAAATGAAATGTTCCC 0.383000 118 16 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142172041 142172041 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:142172041C>T uc003eux.4 - 45 7812 c.7690G>A c.(7690-7692)Gaa>Aaa p.E2564K ATR_uc003euy.1_Missense_Mutation_p.E450K NM_001184 NP_001175 Q13535 ATR_HUMAN Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA. 2564 PI3K/PI4K. DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 TTACTCCATTCCACAAGAGGA 0.363000 Other conserved DNA damage response genes 56 7 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 132193153 132193153 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:132193153G>A uc003vra.4 - 1 529 c.300C>T c.(298-300)atC>atT p.I100I PLXNA4_uc003vrc.2_Silent_p.I100I|PLXNA4_uc003vrb.3_Silent_p.I100I NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 100 Sema. integral to membrane|intracellular|plasma membrane p.R99C(1) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 AGGTCTGGACGATGCGGGGTG 0.557000 73 17 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31593226 31593226 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:31593226C>T uc002rnv.1 - 17 2054 c.1975G>A c.(1975-1977)Gat>Aat p.D659N NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 659 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CTTACCTTATCCTTCGCAAAG 0.348000 37 6 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70637889 70637889 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr6:70637889C>T uc003pfc.1 + 4 472 c.355C>T c.(355-357)Ctg>Ttg p.L119L COL19A1_uc010kam.2_Silent_p.L15L NM_001858 NP_001849 Q14993 COJA1_HUMAN Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA. 119 TSP N-terminal. FRVRRNAKKERWFL -> ETTVPFWRFFVLET (in Ref. 6; AAA36358). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 ACGGTGGTTTCTGTGGCAGGT 0.423000 26 3 0 0 1 0 0 OR3A3 8392 broad.mit.edu 37 17 3324457 3324457 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:3324457C>T uc010vrd.2 + 0 596 c.596C>T c.(595-597)tCc>tTc p.S199F NM_012373 NP_036505 P47888 OR3A3_HUMAN Homo sapiens olfactory receptor, family 3, subfamily A, member 3 (OR3A3), mRNA. 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1) 9 CTCTCCTGCTCCAGCACCCAA 0.552000 66 15 0 0 1 0 0 SPNS3 201305 broad.mit.edu 37 17 4349486 4349486 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:4349486C>T uc002fxt.3 + 3 590 c.546C>T c.(544-546)ccC>ccT p.P182P SPNS3_uc002fxu.3_Silent_p.P55P NM_182538 NP_872344 Q6ZMD2 SPNS3_HUMAN Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA. 182 lipid transport|transmembrane transport integral to membrane NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 TCTTTATCCCCGTTGGAAGGT 0.607000 144 6 0 0 1 0 0 WTAP 9589 broad.mit.edu 37 6 160176365 160176365 + Missense_Mutation SNP T C C TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr6:160176365T>C uc003qsl.3 + 7 1135 c.913T>C c.(913-915)Tct>Cct p.S305P WTAP_uc003qso.3_Missense_Mutation_p.S186P NM_004906 NP_004897 Q15007 FL2D_HUMAN Homo sapiens Wilms tumor 1 associated protein (WTAP), transcript variant 1, mRNA. 305 RNA splicing|cell cycle|mRNA processing nuclear membrane|nucleolus central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 18 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) TGACTTTCCTTCTTCTCCAGG 0.512000 57 8 0 0 1 0 0 TUBB8 347688 broad.mit.edu 37 10 93691 93691 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr10:93691G>A uc001ifi.2 - 3 641 c.641C>T c.(640-642)aCc>aTc p.T214I NM_177987 NP_817124 Q3ZCM7 TBB8_HUMAN Homo sapiens tubulin, beta 8 class VIII (TUBB8), transcript variant 1, mRNA. 214 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) CAGTTTTAGGGTCTTGGAACA 0.537000 65 17 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34174715 34174715 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:34174715C>T uc001bxm.1 - 21 3727 c.3550G>A c.(3550-3552)Gaa>Aaa p.E1184K CSMD2_uc001bxn.1_Missense_Mutation_p.E1144K|CSMD2_uc001bxo.1_Missense_Mutation_p.E57K NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1144 CUB 7. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TCGGAGAGTTCGAATGCCCTG 0.438000 104 15 0 0 1 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204236633 204236633 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:204236633G>A uc001hau.3 - 4 567 c.250C>T c.(250-252)Ctg>Ttg p.L84L NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA. 84 PH. p.V83I(1) breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) CGATCCACCAGGACGAACCAG 0.582000 128 25 0 0 1 0 0 ASIC2 40 broad.mit.edu 37 17 32483090 32483090 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:32483090C>T uc002hhu.3 - 0 736 c.462G>A c.(460-462)ctG>ctA p.L154L NM_001094 NP_001085 Q16515 ACCN1_HUMAN Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG1, mRNA. 154 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) GCAGGAACTCCAGCATGCTGA 0.577000 133 31 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133539985 133539985 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:133539985G>A uc002ttp.3 - 13 4773 c.4399C>T c.(4399-4401)Ccc>Tcc p.P1467S NCKAP5_uc002ttq.3_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA. 1467 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GGTGAGAGGGGGGCTTCTGAA 0.488000 15 7 0 0 1 0 0 SEMA4D 10507 broad.mit.edu 37 9 92002452 92002452 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr9:92002452G>A uc004aqo.1 - 13 1751 c.1179C>T c.(1177-1179)ttC>ttT p.F393F SEMA4D_uc011ltm.1_Silent_p.F393F|SEMA4D_uc011ltn.1_Non-coding_Transcript|SEMA4D_uc011lto.1_Non-coding_Transcript|SEMA4D_uc004aqp.1_Silent_p.F393F NM_006378 NP_006369 Q92854 SEM4D_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA. 393 Sema. anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 GGTCTTTAACGAACTGCAGCG 0.527000 75 11 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166210819 166210819 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:166210819G>A uc002udc.3 + 16 3327 c.3037G>A c.(3037-3039)Gga>Aga p.G1013R SCN2A_uc002udd.3_Missense_Mutation_p.G1013R|SCN2A_uc002ude.3_Missense_Mutation_p.G1013R NM_001040142 NP_066287 Q99250 SCN2A_HUMAN Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA. 1013 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GATGCAGAAAGGAATCGATTT 0.368000 56 8 0 0 1 0 0 TBX2 6909 broad.mit.edu 37 17 59485578 59485578 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:59485578C>T uc010wox.2 + 6 2131 c.1850C>T c.(1849-1851)cCc>cTc p.P617L TBX2_uc002ize.3_3'UTR|TBX2_uc002izg.3_Missense_Mutation_p.P463L NM_005994 NP_005985 Q13207 TBX2_HUMAN Homo sapiens T-box 2 (TBX2), mRNA. 617 cell aging|positive regulation of cell proliferation sequence-specific DNA binding p.P617Q(2) endometrium(1)|lung(7)|ovary(1) 9 AGTGCCCGGCCCCGACTGCGT 0.721000 73 13 0 0 1 0 0 SERPINA3 12 broad.mit.edu 37 14 95081330 95081330 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:95081330G>A uc001ydp.3 + 1 711 c.552G>A c.(550-552)gtG>gtA p.V184V SERPINA3_uc001ydo.4_Silent_p.V209V|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Silent_p.V184V|SERPINA3_uc001yds.3_Silent_p.V184V NM_001085 NP_001076 P01011 AACT_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA. 184 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) ACGACTACGTGAAGAATGGAA 0.488000 94 12 0 0 1 0 0 FRMD7 90167 broad.mit.edu 37 X 131231325 131231325 + Missense_Mutation SNP C G G TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chrX:131231325C>G uc004ewn.3 - 3 431 c.253G>C c.(253-255)Gac>Cac p.D85H FRMD7_uc011muy.2_Missense_Mutation_p.D70H NM_194277 NP_919253 Q6ZUT3 FRMD7_HUMAN Homo sapiens FERM domain containing 7 (FRMD7), mRNA. 85 FERM. regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) TGTCCAGGGTCCACTGGGAAA 0.358000 98 39 0 0 1 0 0 SPACA1 81833 broad.mit.edu 37 6 88768507 88768507 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr6:88768507C>T uc003pmn.3 + 3 558 c.441C>T c.(439-441)ttC>ttT p.F147F NM_030960 NP_112222 Q9HBV2 SACA1_HUMAN Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA. 147 integral to membrane p.R146C(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) TAAATCGTTTCAAATATATGT 0.333000 23 5 0 0 1 0 0 GFM1 85476 broad.mit.edu 37 3 158383129 158383129 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:158383129G>A uc003fce.3 + 11 1491 c.1384G>A c.(1384-1386)Gat>Aat p.D462N GFM1_uc003fcd.3_Missense_Mutation_p.D462N|GFM1_uc003fcg.3_Missense_Mutation_p.D393N NM_024996 NP_079272 Q96RP9 EFGM_HUMAN Homo sapiens G elongation factor, mitochondrial 1 (GFM1), nuclear gene encoding mitochondrial protein, mRNA. 462 mitochondrial translational elongation mitochondrion GTP binding|GTPase activity|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2) 22 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) TTTAAAGAACGATCTGGAAAA 0.313000 14 4 0 0 1 0 0 FAM65B 9750 broad.mit.edu 37 6 24843463 24843463 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr6:24843463G>A uc003neo.1 - 13 1723 c.1547C>T c.(1546-1548)tCt>tTt p.S516F FAM65B_uc011djs.1_Missense_Mutation_p.S495F|FAM65B_uc011dju.2_Missense_Mutation_p.S500F|FAM65B_uc003nep.3_Missense_Mutation_p.S466F|FAM65B_uc011djt.2_Missense_Mutation_p.S466F NM_014722 NP_055537 Q9Y4F9 FA65B_HUMAN Homo sapiens family with sequence similarity 65, member B (FAM65B), transcript variant 1, mRNA. 516 cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 25 GCAAGCCTCAGATGGGGCCGA 0.577000 37 7 0 0 1 0 0 ACER2 340485 broad.mit.edu 37 9 19450564 19450565 + Nonsense_Mutation DNP GG AA AA TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr9:19450564_19450565GG>AA uc003zny.1 + 5 916_917 c.758_759GG>AA c.(757-759)tgg>tAA p.W253* ACER2_uc003znx.1_Non-coding_Transcript|ACER2_uc003znz.1_Nonsense_Mutation_p.W204* NM_001010887 NP_001010887 Q5QJU3 ACER2_HUMAN Homo sapiens alkaline ceramidase 2 (ACER2), mRNA. 253 ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process integral to Golgi membrane ceramidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 13 AATGAGAAATGGGCCTTCATTG 0.510000 76 10 0 0 1 0 0 BV13S6J2.1 0 broad.mit.edu 37 7 142180558 142180558 + Missense_Mutation SNP C A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:142180558C>A uc011krz.2 - 1 350 c.301G>T c.(301-303)Gct>Tct p.A101S TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Missense_Mutation_p.A101S|BV13S6J2.1_uc022anl.1_Non-coding_Transcript SubName: Full=V_segment translation product; Flags: Fragment; TGGGAGGGAGCAGCCGACAGC 0.557000 366 65 6.01781e-45 6.20809e-45 1 1 0 MAGI1 9223 broad.mit.edu 37 3 65342720 65342720 + Missense_Mutation SNP G A A rs139105394 TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:65342720G>A uc003dmn.3 - 22 4248 c.3722C>T c.(3721-3723)tCa>tTa p.S1241L MAGI1_uc003dmm.3_3'UTR NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA. 1270 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GGACTCCAATGACGGATGCTG 0.617000 145 29 0 0 1 0 0 OAS2 4939 broad.mit.edu 37 12 113446901 113446901 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr12:113446901C>T uc001tuj.3 + 9 2045 c.1905C>T c.(1903-1905)atC>atT p.I635I OAS2_uc001tui.1_Silent_p.I635I NM_016817 NP_058197 P29728 OAS2_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA. 635 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|RNA binding|nucleotidyltransferase activity NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 GGCCTGTGATCTTGGACCCAG 0.493000 158 27 0 0 1 0 0 TROAP 10024 broad.mit.edu 37 12 49724403 49724403 + Missense_Mutation SNP A G G TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr12:49724403A>G uc009zlh.3 + 12 1942 c.1775A>G c.(1774-1776)tAc>tGc p.Y592C TROAP_uc001rtx.4_Missense_Mutation_p.Y592C NM_005480 NP_005471 Q12815 TROAP_HUMAN Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA. 592 4 X 33 AA approximate tandem repeats.|Cys-rich. cell adhesion cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 CTAGAGTCCTACTGTAGGATT 0.617000 83 3 0 0 1 0 0 TLK1 9874 broad.mit.edu 37 2 171906377 171906377 + Silent SNP G T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:171906377G>T uc002ugo.2 - 10 1462 c.990C>A c.(988-990)ggC>ggA p.G330G TLK1_uc002ugn.2_Silent_p.G309G|TLK1_uc002ugp.2_Silent_p.G261G|TLK1_uc002ugq.2_Non-coding_Transcript|TLK1_uc010zdn.1_Silent_p.G213G|TLK1_uc002ugr.1_Silent_p.G92G NM_001136554 NP_036422 Q9UKI8 TLK1_HUMAN Homo sapiens tousled-like kinase 1 (TLK1), transcript variant 2, mRNA. 309 cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 TAAATGAAGCGCCATGTCTAA 0.368000 49 3 1 1 1 1 0 OR4K15 81127 broad.mit.edu 37 14 20443887 20443887 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:20443887C>T uc010tkx.2 + 0 210 c.210C>T c.(208-210)atC>atT p.I70I NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA. 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) TTCTCATCATCCTCACTGTGA 0.443000 34 5 0 0 1 0 0 SRRT 51593 broad.mit.edu 37 7 100482173 100482173 + Splice_Site SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:100482173G>A uc003uwy.2 + 7 1209 c.942_splice c.e7+1 p.Q314_splice SRRT_uc010lhl.1_Splice_Site_p.Q314_splice|SRRT_uc003uxa.2_Splice_Site_p.Q314_splice|SRRT_uc003uwz.2_Splice_Site_p.Q314_splice NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA. 314 Glu-rich. cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 ACGGCAAGCAGGTCCGAGCCC 0.617000 38 4 0 0 1 0 0 TRIM50 135892 broad.mit.edu 37 7 72730583 72730583 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:72730583G>A uc003txy.1 - 5 1056 c.855C>T c.(853-855)ctC>ctT p.L285L FKBP6_uc003twz.2_Intron|TRIM50_uc010lbd.1_Silent_p.L285L|TRIM50_uc003txz.1_Silent_p.L284L NM_178125 NP_835226 Q86XT4 TRI50_HUMAN Homo sapiens tripartite motif containing 50 (TRIM50), mRNA. 285 B30.2/SPRY. cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2) 20 CTTTCCGGAAGAGCCTTTTCC 0.592000 60 12 0 0 1 0 0 SBK1 388228 broad.mit.edu 37 16 28328854 28328854 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr16:28328854G>A uc002dpd.3 + 1 931 c.142G>A c.(142-144)Gac>Aac p.D48N NM_001024401 NP_001019572 Q52WX2 SBK1_HUMAN Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA. 48 cytoplasm ATP binding|protein serine/threonine kinase activity kidney(1)|lung(3)|ovary(1) 5 GGCCGCCAGCGACGTCACCAA 0.637000 OREG0023701 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 101 30 0 0 1 0 0 TMIGD1 388364 broad.mit.edu 37 17 28651902 28651902 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:28651902C>T uc002hfa.1 - 3 645 c.572G>A c.(571-573)gGa>gAa p.G191E TMIGD1_uc010csh.1_Missense_Mutation_p.G191E NM_206832 NP_996663 Q6UXZ0 TMIG1_HUMAN Homo sapiens transmembrane and immunoglobulin domain containing 1 (TMIGD1), mRNA. 191 Ig-like C2-type 2. integral to membrane breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 12 ACTGTAGGTTCCGTTGTCAGG 0.423000 86 9 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231109788 231109788 + Silent SNP T G G TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:231109788T>G uc002vql.3 + 5 772 c.657T>G c.(655-657)ggT>ggG p.G219G SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Silent_p.G219G|SP140_uc002vqn.3_Splice_Site_p.V219_splice|SP140_uc002vqm.3_Silent_p.G219G|SP140_uc010fxl.3_Silent_p.G219G NM_007237 NP_009168 Q13342 LY10_HUMAN Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA. 219 Missing (in Ref. 2; AAC50817). defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TACTACCAGGTGGGGGAGGTA 0.453000 18 4 0 0 1 0 0 OR2M4 26245 broad.mit.edu 37 1 248402269 248402269 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:248402269C>T uc010pzh.2 + 0 39 c.39C>T c.(37-39)atC>atT p.I13I NM_017504 NP_059974 Q96R27 OR2M4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA. 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CCATCTTCATCCTGCTGGGAA 0.428000 78 11 0 0 1 0 0 OR4B1 119765 broad.mit.edu 37 11 48239251 48239251 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr11:48239251G>A uc010rhs.2 + 0 890 c.890G>A c.(889-891)aGa>aAa p.R297K NM_001005470 NP_001005470 Q8NGF8 OR4B1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA. 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 ATCGCCATAAGAAGATTGTGG 0.418000 36 5 0 0 1 0 0 SLC6A11 6538 broad.mit.edu 37 3 10861262 10861262 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:10861262G>A uc003bvz.3 + 1 403 c.369G>A c.(367-369)agG>agA p.R123R SLC6A11_uc003bvy.1_Silent_p.R123R NM_014229 NP_055044 P48066 S6A11_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA. 123 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) CGTGTTGGAGGAAAGTTTGCC 0.398000 77 12 0 0 1 0 0 PID1 55022 broad.mit.edu 37 2 229890687 229890687 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:229890687G>A uc002vpr.4 - 2 452 c.414C>T c.(412-414)atC>atT p.I138I PID1_uc002vps.4_Silent_p.I136I|PID1_uc002vpt.4_Silent_p.I105I|PID1_uc002vpu.4_Silent_p.I56I NM_001100818 NP_001094288 Q7Z2X4 PCLI1_HUMAN Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA. 138 PID. cytoplasm breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) GGAATGGCCGGATTTCCAGGA 0.567000 63 5 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14488216 14488216 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:14488216C>T uc003jff.3 + 47 7485 c.7479C>T c.(7477-7479)ccC>ccT p.P2493P TRIO_uc003jfg.3_Intron|TRIO_uc003jfh.1_Silent_p.P2142P NM_007118 NP_009049 O75962 TRIO_HUMAN Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA. 2493 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) CCGCCTCCCCCGCCAGCCGAC 0.716000 33 6 0 0 1 0 0 KIF15 56992 broad.mit.edu 37 3 44847370 44847370 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:44847370G>A uc003cnx.4 + 15 2012 c.1863G>A c.(1861-1863)caG>caA p.Q621Q KIF15_uc010hiq.3_Silent_p.Q524Q|KIF15_uc003cny.1_Silent_p.Q256Q NM_020242 NP_064627 Q9NS87 KIF15_HUMAN Homo sapiens kinesin family member 15 (KIF15), mRNA. 621 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) CAGAGCTTCAGTCTTTGCAAA 0.343000 80 8 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101845351 101845351 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:101845351C>T uc003uys.4 + 17 2934 c.2807C>T c.(2806-2808)cCc>cTc p.P936L CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.P925L NM_001202543 NP_001189472 P39880 CUX1_HUMAN Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA. 925 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CCCACCAAGCCCTCGGTCCCC 0.642000 195 33 0 0 1 0 0 EDAR 10913 broad.mit.edu 37 2 109539872 109539872 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:109539872C>T uc010fjn.3 - 5 941 c.394G>A c.(394-396)Ggc>Agc p.G132S EDAR_uc010yws.2_Missense_Mutation_p.G132S|EDAR_uc002teq.4_Missense_Mutation_p.G132S NM_022336 NP_071731 Q9UNE0 EDAR_HUMAN Homo sapiens ectodysplasin A receptor (EDAR), mRNA. 132 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 CAGACCATGCCATAGATGTTC 0.547000 205 18 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33881430 33881430 + Missense_Mutation SNP T C C TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:33881430T>C uc003jia.1 - 1 446 c.283A>G c.(283-285)Att>Gtt p.I95V ADAMTS12_uc010iuq.1_Missense_Mutation_p.I95V|ADAMTS12_uc003jib.1_Missense_Mutation_p.I95V NM_030955 NP_112217 P58397 ATS12_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA. 95 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TCGTGAGAAATTCTGTAGTAC 0.458000 HNSCC(64;0.19) 108 30 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453134 140453134 + Missense_Mutation SNP T C C rs121913377 TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:140453134T>C uc003vwc.4 - 14 1862 c.1801A>G c.(1801-1803)Aaa>Gaa p.K601E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 601 Protein kinase. K -> E (in colorectal cancer).|K -> Q (in CFC syndrome). 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(25751)|p.V600?(377)|p.V600K(363)|p.K601E(117)|p.V600R(55)|p.V600_K601>E(30)|p.V600L(28)|p.V600D(24)|p.V600M(22)|p.V600A(12)|p.K601N(12)|p.V600G(11)|p.T599_V600insT(7)|p.K601del(5)|p.T599_R603>I(4)|p.K601Q(3)|p.T599_V600insTT(3)|p.V600Q(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.K601K(1)|p.K601L(1)|p.K601R(1)|p.V600V(1)|p.T599_V600insDFGLAT(1)|p.T599_V600insV(1)|p.K601I(1)|p.V600>DLAT(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) CATCGAGATTTCACTGTAGCT 0.368000 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 40 8 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37272719 37272719 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:37272719G>A uc022abv.1 - 7 1240 c.530C>T c.(529-531)tCg>tTg p.S177L ELMO1_uc011kbc.2_Missense_Mutation_p.S81L|ELMO1_uc003tfk.2_Missense_Mutation_p.S177L|ELMO1_uc010kxg.2_Missense_Mutation_p.S177L NM_001206482 NP_001193411 Q92556 ELMO1_HUMAN Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA. 177 Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 GAACGCCACCGAAAATGTATC 0.463000 52 3 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178551987 178551987 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:178551987C>T uc003mjw.3 - 18 3047 c.2945G>A c.(2944-2946)gGg>gAg p.G982E NM_014244 NP_055059 O95450 ATS2_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA. 982 TSP type-1 4. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GGACCAGGGCCCGGCTCGCCA 0.692000 68 8 0 0 1 0 0 WFDC12 128488 broad.mit.edu 37 20 43752814 43752814 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr20:43752814C>T uc002xnf.1 - 1 190 c.172G>A c.(172-174)Gaa>Aaa p.E58K NM_080869 NP_543145 Q8WWY7 WFD12_HUMAN Homo sapiens WAP four-disulfide core domain 12 (WFDC12), mRNA. 58 WAP. defense response to bacterium extracellular region serine-type endopeptidase inhibitor activity p.E58fs*14(2) endometrium(1)|large_intestine(2)|lung(2)|skin(1) 6 Myeloproliferative disorder(115;0.0122) CACTTCCTTTCCCCCAGACAG 0.547000 78 14 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165953813 165953813 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:165953813C>T uc002ucx.3 - 22 4680 c.4188G>A c.(4186-4188)gtG>gtA p.V1396V SCN3A_uc002ucy.3_Silent_p.V1347V|SCN3A_uc002ucz.3_Silent_p.V1347V|SCN3A_uc002uda.1_Silent_p.V1216V|SCN3A_uc002udb.1_Silent_p.V1216V NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA. 1396 voltage-gated sodium channel complex voltage-gated sodium channel activity p.N1395fs*2(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) AGTTTACTTTCACGTTTTTCC 0.403000 27 10 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56243696 56243696 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr19:56243696C>T uc002qly.3 - 1 1529 c.1501G>A c.(1501-1503)Gaa>Aaa p.E501K NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA. 501 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) ACGATTTCTTCTGTTGAAATT 0.453000 74 20 0 0 1 0 0 KRT74 121391 broad.mit.edu 37 12 52963652 52963652 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr12:52963652C>T uc001sap.1 - 5 1173 c.1125G>A c.(1123-1125)gtG>gtA p.V375V NM_175053 NP_778223 Q7RTS7 K2C74_HUMAN Homo sapiens keratin 74 (KRT74), mRNA. 375 Coil 2.|Rod. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) CCTGCTTCTTCACATTCCCGA 0.582000 112 7 0 0 1 0 0 PPP2R3B 28227 broad.mit.edu 37 X 322179 322179 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chrX:322179G>A uc004cpg.3 - 1 735 c.471C>T c.(469-471)caC>caT p.H157H PPP2R3B_uc011mha.2_5'UTR NM_013239 NP_037371 Q9Y5P8 P2R3B_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA. 157 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity endometrium(5)|lung(5)|skin(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGGCCCTCTCGTGGGGGAACC 0.637000 74 7 0 0 1 0 0 NR6A1 2649 broad.mit.edu 37 9 127316631 127316631 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr9:127316631G>A uc004bor.1 - 2 539 c.361C>T c.(361-363)Ctc>Ttc p.L121F NR6A1_uc004boq.1_Missense_Mutation_p.L117F|NR6A1_uc010mwq.1_Missense_Mutation_p.L117F NM_033334 NP_201591 Q15406 NR6A1_HUMAN Homo sapiens nuclear receptor subfamily 6, group A, member 1 (NR6A1), transcript variant 1, mRNA. 121 cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 17 CCCATCTGGAGGCATTTGAGC 0.493000 131 27 0 0 1 0 0 PCK1 5105 broad.mit.edu 37 20 56137870 56137870 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr20:56137870G>A uc002xyn.4 + 3 688 c.525G>A c.(523-525)cgG>cgA p.R175R PCK1_uc010zzm.2_Intron NM_002591 NP_002582 P35558 PCKGC_HUMAN Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA. 175 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity p.T174M(1) endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) TCATGACGCGGATGGGCACGC 0.572000 111 15 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53855364 53855365 + Missense_Mutation DNP CA TG TG TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr19:53855364_53855365CA>TG uc010ydv.1 + 3 1553_1554 c.1436_1437CA>TG c.(1435-1437)aca>aTG p.T479M ZNF845_uc010ydw.1_Missense_Mutation_p.T479M NM_138374 NP_612383 Q96IR2 ZN845_HUMAN Homo sapiens zinc finger protein 845 (ZNF845), mRNA. 479 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TTCAGTCAGACATCATCCCTTG 0.381000 67 3 0 0 1 0 0 TRAT1 50852 broad.mit.edu 37 3 108572633 108572633 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:108572633C>T uc003dxi.1 + 5 614 c.470C>T c.(469-471)tCc>tTc p.S157F TRAT1_uc010hpx.1_Missense_Mutation_p.S120F NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA. 157 T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling T cell receptor complex|integral to plasma membrane phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity p.S157Y(2) endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 GACAGTTTCTCCCCAGAAAGC 0.443000 51 9 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122632785 122632785 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:122632785G>A uc003efz.1 - 14 2356 c.2052C>T c.(2050-2052)ttC>ttT p.F684F SEMA5B_uc011bju.1_Silent_p.F626F|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.F684F|SEMA5B_uc010hro.1_Silent_p.F626F|SEMA5B_uc003efy.1_5'Flank NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA. 684 TSP type-1 1. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) GGCGGACCTGGAAGCCGATGC 0.687000 126 29 0 0 1 0 0 C12orf51 283450 broad.mit.edu 37 12 112676998 112676998 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr12:112676998G>A uc021reb.1 - 33 5142 c.4746C>T c.(4744-4746)ctC>ctT p.L1582L NM_001109662 NP_001103132 Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6) 100 GTCGATCCATGAGCTGCACAA 0.532000 165 32 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240519181 240519181 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:240519181G>A uc010pye.2 + 14 5068 c.4843G>A c.(4843-4845)Gaa>Aaa p.E1615K FMN2_uc010pyd.2_Missense_Mutation_p.E1611K|FMN2_uc010pyf.1_Intron|FMN2_uc010pyg.2_Missense_Mutation_p.E207K NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 1611 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GCCTTTCAAGGAAAACATGGA 0.318000 28 6 0 0 1 0 0 TCR-alpha 0 broad.mit.edu 37 14 22337305 22337305 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:22337305C>T uc021rpg.1 + 1 159 c.96C>T c.(94-96)gtC>gtT p.V32V TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 85. CCCTGAGTGTCCAGGAGGGAG 0.438000 50 8 0 0 1 0 0 TMEM105 284186 broad.mit.edu 37 17 79287763 79287763 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:79287763C>T uc002kad.2 - 2 628 c.78G>A c.(76-78)gtG>gtA p.V26V NM_178520 NP_848615 Q8N8V8 TM105_HUMAN Homo sapiens transmembrane protein 105 (TMEM105), mRNA. 26 integral to membrane NS(1)|large_intestine(3)|lung(1)|ovary(2) 7 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892) GCTGCCCGATCACATTTCCTG 0.602000 95 24 0 0 1 0 0 CHMP7 91782 broad.mit.edu 37 8 23112815 23112815 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr8:23112815C>T uc003xdc.2 + 3 1175 c.527C>T c.(526-528)cCc>cTc p.P176L CHMP7_uc011kzs.1_Non-coding_Transcript|CHMP7_uc003xdd.2_Missense_Mutation_p.P66L|CHMP7_uc003xde.2_Missense_Mutation_p.P34L NM_152272 NP_689485 Q8WUX9 CHMP7_HUMAN Homo sapiens charged multivesicular body protein 7 (CHMP7), mRNA. 176 cellular membrane organization|late endosome to vacuole transport ESCRT III complex|cytosol protein transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 Prostate(55;0.0513) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) TCCTCCCACCCCGTGGTGGCC 0.582000 74 10 0 0 1 0 0 CCDC138 165055 broad.mit.edu 37 2 109463245 109463246 + Missense_Mutation DNP GG AA AA TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:109463245_109463246GG>AA uc002ten.1 + 11 1435_1436 c.1375_1376GG>AA c.(1375-1377)gga>AAa p.G459K CCDC138_uc002teo.1_Missense_Mutation_p.G459K|CCDC138_uc002tep.1_Missense_Mutation_p.G143K|CCDC138_uc010fjm.1_Missense_Mutation_p.G143K NM_144978 NP_659415 Q96M89 CC138_HUMAN Homo sapiens coiled-coil domain containing 138 (CCDC138), mRNA. 459 endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 14 CATTTTTAAAGGAGTGGTAACT 0.347000 43 6 0 0 1 0 0 AK7 122481 broad.mit.edu 37 14 96922768 96922768 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:96922768C>T uc001yfn.2 + 10 1227 c.1183C>T c.(1183-1185)Cac>Tac p.H395Y NM_152327 NP_689540 Q96M32 KAD7_HUMAN Homo sapiens adenylate kinase 7 (AK7), mRNA. 395 Adenylate kinase. cell projection organization cytosol ATP binding|adenylate kinase activity|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) CAAACTGCATCACATCCAACT 0.393000 74 9 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125521583 125521583 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr10:125521583C>T uc001lhk.1 - 10 1907 c.1582G>A c.(1582-1584)Gac>Aac p.D528N CPXM2_uc001lhj.3_Non-coding_Transcript NM_198148 NP_937791 Q8N436 CPXM2_HUMAN Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA. 528 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding p.D528N(2) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CGCACCAGGTCGTAGGGGTAC 0.647000 153 36 0 0 1 0 0 ZNF366 167465 broad.mit.edu 37 5 71757314 71757314 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:71757314C>T uc003kce.1 - 1 196 c.10G>A c.(10-12)Gaa>Aaa p.E4K NM_152625 NP_689838 Q8N895 ZN366_HUMAN Homo sapiens zinc finger protein 366 (ZNF366), mRNA. 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) ATCTTCATTTCCTTCTGCATC 0.423000 70 8 0 0 1 0 0 UNC119 9094 broad.mit.edu 37 17 26874713 26874714 + Missense_Mutation DNP GG AA AA rs150932837 TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:26874713_26874714GG>AA uc002hbk.2 - 3 662_663 c.591_592CC>TT c.(589-594)ccccct>ccTTct p.P198S UNC119_uc002hbm.2_Missense_Mutation_p.P198S NM_005148 NP_005139 Q13432 U119A_HUMAN Homo sapiens unc-119 homolog (C. elegans) (UNC119), transcript variant 1, mRNA. 198 phototransduction|synaptic transmission|visual perception cytosol|soluble fraction breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 7 Lung NSC(42;0.00431) TCGGAGAGAGGGGGGAAGTCGT 0.599000 OREG0024277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 74 14 0 0 1 0 0 GPR176 11245 broad.mit.edu 37 15 40093419 40093419 + Nonsense_Mutation SNP G A A rs147730816 TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr15:40093419G>A uc001zkj.1 - 2 2328 c.1462C>T c.(1462-1464)Cag>Tag p.Q488* GPR176_uc010uck.1_Nonsense_Mutation_p.Q428* NM_007223 NP_009154 Q14439 GP176_HUMAN Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA. 488 synaptic transmission integral to plasma membrane G-protein coupled receptor activity p.Q488*(2) central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2) 23 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) ACCTTTGTCTGGATCAGCTCT 0.517000 102 25 0 0 1 0 0 FBLN7 129804 broad.mit.edu 37 2 112940491 112940491 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:112940491G>A uc002tho.1 + 5 1065 c.794G>A c.(793-795)gGg>gAg p.G265E FBLN7_uc010fki.1_Missense_Mutation_p.G219E|FBLN7_uc010fkj.1_Intron NM_153214 NP_694946 Q53RD9 FBLN7_HUMAN Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA. 265 EGF-like 2; calcium-binding (Potential). cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 CTGGCTGACGGGAAGAGCTGT 0.662000 134 4 0 0 1 0 0 HSD17B7 51478 broad.mit.edu 37 1 162769628 162769628 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:162769628C>T uc001gci.3 + 4 638 c.543C>T c.(541-543)ctC>ctT p.L181L HSD17B7_uc009wuv.3_Non-coding_Transcript NM_016371 NP_057455 P56937 DHB7_HUMAN Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 (HSD17B7), mRNA. 181 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_hematologic(112;0.115) NADH(DB00157) ATTTCAGCCTCGAGGACTTCC 0.502000 30 11 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1094812 1094812 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr11:1094812C>T uc001lsx.1 + 32 5915 c.5888C>T c.(5887-5889)cCt>cTt p.P1963L NM_002457 NP_002448 Q02817 MUC2_HUMAN Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA. 2026 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) AGGCCCTACCCTTCCTCTGTG 0.627000 278 24 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107925060 107925061 + Missense_Mutation DNP CC TT TT rs104886404 TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chrX:107925060_107925061CC>TT uc022ccg.1 + 46 4360_4361 c.4158_4159CC>TT c.(4156-4161)atccct>atTTct p.P1387S COL4A5_uc004enz.1_Missense_Mutation_p.P1381S NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 1381 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 CTCCAGGAATCCCTGGCCAGCC 0.450000 Alport syndrome with Diffuse Leiomyomatosis 10 4 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62327290 62327290 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:62327290C>T uc001dab.3 + 18 2504 c.2390C>T c.(2389-2391)tCa>tTa p.S797L INADL_uc009waf.1_Missense_Mutation_p.S797L|INADL_uc001daa.2_Missense_Mutation_p.S797L|INADL_uc001dad.3_Missense_Mutation_p.S494L|INADL_uc001dac.3_Non-coding_Transcript NM_176877 NP_795352 Q8NI35 INADL_HUMAN Homo sapiens InaD-like (Drosophila) (INADL), mRNA. 797 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 ACTGAATTTTCAGGAACAATT 0.254000 58 9 0 0 1 0 0 GPHN 10243 broad.mit.edu 37 14 67389392 67389392 + Nonsense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:67389392C>T uc001xiy.3 + 6 1587 c.466C>T c.(466-468)Caa>Taa p.Q156* GPHN_uc001xiw.3_Nonsense_Mutation_p.Q138*|GPHN_uc001xix.3_Nonsense_Mutation_p.Q156*|GPHN_uc010tss.2_Nonsense_Mutation_p.Q169*|GPHN_uc010tst.2_Nonsense_Mutation_p.Q125*|GPHN_uc010tsu.2_Nonsense_Mutation_p.Q46* NM_001024218 NP_001019389 Q9NQX3 GEPH_HUMAN Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA. 156 Interaction with GABARAP (By similarity).|MPT Mo-transferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) GGAATGCTTTCAATTCATACT 0.368000 T MLL AL 76 9 0 0 1 0 0 LINGO2 158038 broad.mit.edu 37 9 27948907 27948907 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr9:27948907C>T uc003zqv.1 - 6 2413 c.1763G>A c.(1762-1764)gGt>gAt p.G588D LINGO2_uc010mjf.1_Missense_Mutation_p.G588D|LINGO2_uc003zqu.1_Missense_Mutation_p.G588D|LINGO2_uc022bfc.1_Missense_Mutation_p.G588D NM_152570 NP_689783 Q7L985 LIGO2_HUMAN Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA. 588 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) CACAACAGCACCATTGTTTTT 0.453000 29 6 0 0 1 0 0 MOSPD3 64598 broad.mit.edu 37 7 100212779 100212779 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:100212779C>T uc003uvq.3 + 5 883 c.681C>T c.(679-681)ctC>ctT p.L227L MOSPD3_uc003uvr.3_Silent_p.L227L|MOSPD3_uc003uvs.3_Silent_p.L227L|MOSPD3_uc003uvt.3_Silent_p.L217L NM_001040097 NP_076438 O75425 MSPD3_HUMAN Homo sapiens motile sperm domain containing 3 (MOSPD3), transcript variant 2, mRNA. 227 integral to membrane structural molecule activity breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CTCCAGGCCTCCTCACCATGG 0.632000 106 15 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 155158006 155158006 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:155158006C>T uc002tyt.4 + 6 1164 c.1060C>T c.(1060-1062)Cct>Tct p.P354S GALNT13_uc002tyr.4_Missense_Mutation_p.P354S|GALNT13_uc010foc.1_Missense_Mutation_p.P173S|GALNT13_uc010fod.3_Missense_Mutation_p.P107S NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA. 354 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 ATACACTTTTCCTGGTGGCAC 0.438000 116 14 0 0 1 0 0 OR2B3 442184 broad.mit.edu 37 6 29054720 29054720 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr6:29054720G>A uc003nlx.3 - 0 371 c.306C>T c.(304-306)atC>atT p.I102I NM_001005226 NP_001005226 Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA. breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 CCAGGAAGATGATGAGGTGGG 0.468000 91 15 0 0 1 0 0 YTHDF1 54915 broad.mit.edu 37 20 61835092 61835092 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr20:61835092G>A uc002yeh.3 - 3 494 c.200C>T c.(199-201)cCt>cTt p.P67L YTHDF1_uc011aaq.2_Missense_Mutation_p.P17L NM_017798 NP_060268 Q9BYJ9 YTHD1_HUMAN Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA. 67 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 GAGGGAGTAAGGAAATCCAAT 0.512000 59 21 0 0 1 0 0 CLK2P 1197 broad.mit.edu 37 7 23624933 23624933 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:23624933C>T uc003swk.2 - 0 1214 c.564G>A c.(562-564)cgG>cgA p.R188R Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA. CCAGGCGACCCCGGTAAAAAT 0.512000 102 9 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31588407 31588407 + Silent SNP G T T rs143539472 byFrequency TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:31588407G>T uc002rnv.1 - 22 2539 c.2460C>A c.(2458-2460)acC>acA p.T820T NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 820 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity p.T820T(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CAGGGCGGCCGGTCCTGGGGG 0.552000 158 28 7.63091e-17 7.84121e-17 1 1 0 KRT16 3868 broad.mit.edu 37 17 39768903 39768903 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:39768903G>A uc002hxg.4 - 0 177 c.38C>T c.(37-39)tCc>tTc p.S13F JUP_uc010wfs.2_Intron|KRT16_uc021txm.1_Missense_Mutation_p.S13F NM_005557 NP_005548 P08779 K1C16_HUMAN Homo sapiens keratin 16 (KRT16), mRNA. 13 Head. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) GCCCTTCATGGAGCTGGAGGA 0.662000 26 3 0 0 1 0 0 ELP2 55250 broad.mit.edu 37 18 33744557 33744557 + Missense_Mutation SNP G C C TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr18:33744557G>C uc010xcg.2 + 18 2136 c.2076G>C c.(2074-2076)aaG>aaC p.K692N ELP2_uc002kzk.2_Missense_Mutation_p.K627N|ELP2_uc002kzl.2_Non-coding_Transcript|ELP2_uc002kzm.2_Missense_Mutation_p.K601N|ELP2_uc010xch.2_Missense_Mutation_p.K622N|ELP2_uc002kzn.2_Missense_Mutation_p.K557N|ELP2_uc002kzo.2_Missense_Mutation_p.K557N NM_001242875 NP_001229804 Q6IA86 ELP2_HUMAN Homo sapiens elongation protein 2 homolog (S. cerevisiae) (ELP2), transcript variant 1, mRNA. 627 regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2) 30 CTAATGAGAAGTTCTTACTAG 0.423000 54 5 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57578672 57578672 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr12:57578672C>T uc001snd.3 + 38 6703 c.6237C>T c.(6235-6237)atC>atT p.I2079I NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 2079 aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TTGAACGGATCGACCTGGAGA 0.547000 59 7 0 0 1 0 0 SFRP4 6424 broad.mit.edu 37 7 37951872 37951873 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:37951872_37951873CC>TT uc003tfo.4 - 3 1025_1026 c.639_640GG>AA c.(637-642)gaggtc>gaAAtc p.V214I NM_003014 NP_003005 Q6FHJ7 SFRP4_HUMAN Homo sapiens secreted frizzled-related protein 4 (SFRP4), mRNA. 214 NTR. Wnt receptor signaling pathway|brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of JNK cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 ACCGTTGTGACCTCATTGCAGC 0.421000 44 5 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149226818 149226818 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:149226818C>T uc002twm.4 + 8 2303 c.1306C>T c.(1306-1308)Cct>Tct p.P436S MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank NM_018328 NP_060798 Q9P267 MBD5_HUMAN Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA. 436 chromosome|nucleus DNA binding|chromatin binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) CTCCCTGTCCCCTTCTCCAGT 0.488000 21 3 0 0 1 0 0 ATP8B2 57198 broad.mit.edu 37 1 154317975 154317975 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:154317975C>T uc001fex.3 + 22 2747 c.2747C>T c.(2746-2748)aCc>aTc p.T916I NM_020452 NP_065185 P98198 AT8B2_HUMAN Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA. 902 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TTTGCTTTCACCATGGTCCAC 0.488000 OREG0013835 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 248 26 0 0 1 0 0 SH2B1 25970 broad.mit.edu 37 16 28877902 28877902 + Nonsense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr16:28877902C>T uc002dri.3 + 3 926 c.487C>T c.(487-489)Cga>Tga p.R163* NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Intron|SH2B1_uc002drj.3_Nonsense_Mutation_p.R163*|SH2B1_uc002drk.3_Nonsense_Mutation_p.R163*|SH2B1_uc002drl.3_Nonsense_Mutation_p.R163*|SH2B1_uc010vdd.2_Intron|SH2B1_uc010vde.2_Nonsense_Mutation_p.R163*|SH2B1_uc002drm.3_Nonsense_Mutation_p.R163* NM_001145795 NP_001139267 Q9NRF2 SH2B1_HUMAN Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA. 163 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 TCGCTCTGTCCGAGGCTCAGT 0.657000 96 16 0 0 1 0 0 ERMAP 114625 broad.mit.edu 37 1 43296766 43296766 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:43296766C>T uc001cic.1 + 3 683 c.413C>T c.(412-414)aCc>aTc p.T138I ERMAP_uc010ojw.1_Missense_Mutation_p.T199I|ERMAP_uc001cid.1_Intron|ERMAP_uc001cie.1_Missense_Mutation_p.T138I|ERMAP_uc001cif.1_Missense_Mutation_p.T48I NM_001017922 NP_061008 Q96PL5 ERMAP_HUMAN Homo sapiens erythroblast membrane-associated protein (Scianna blood group) (ERMAP), transcript variant 1, mRNA. 138 Ig-like V-type. Missing (in Sc-3 allele). integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AAAGAGGACACCGTGATCCTG 0.498000 31 6 0 0 1 0 0 IGSF9 57549 broad.mit.edu 37 1 159912857 159912857 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:159912857C>T uc001fur.2 - 2 341 c.143G>A c.(142-144)gGc>gAc p.G48D IGSF9_uc001fuq.2_Missense_Mutation_p.G48D NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA. 48 Ig-like 1. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) ggggggccggccggccggggg 0.642000 56 18 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5048750 5048751 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:5048750_5048751CC>TT uc002gau.1 + 26 4273_4274 c.2043_2044CC>TT c.(2041-2046)ttccat>ttTTat p.H682Y USP6_uc002gav.1_Missense_Mutation_p.H682Y|USP6_uc010ckz.1_Missense_Mutation_p.H365Y NM_004505 NP_004496 P35125 UBP6_HUMAN Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA. 682 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TGGATTTGTTCCATGGGCAGCT 0.386000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 48 10 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23863404 23863404 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:23863404G>A uc001wjv.3 - 20 2629 c.2558C>T c.(2557-2559)aCc>aTc p.T853I NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 853 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TTCCTTCATGGTGGCCATCTC 0.572000 104 25 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57640501 57640501 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr19:57640501C>T uc002qny.3 + 3 814 c.458C>T c.(457-459)tCa>tTa p.S153L USP29_uc021vci.1_Missense_Mutation_p.S153L NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA. 153 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATGTCAAAATCACCAACACAT 0.363000 43 7 0 0 1 0 0 DDX60L 91351 broad.mit.edu 37 4 169362542 169362542 + Missense_Mutation SNP G A A rs34420455 TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr4:169362542G>A uc021xuh.1 - 8 1350 c.1240C>T c.(1240-1242)Cct>Tct p.P414S DDX60L_uc003irq.4_Missense_Mutation_p.P414S|DDX60L_uc003irr.1_Missense_Mutation_p.P414S|DDX60L_uc003irs.1_Missense_Mutation_p.P141S NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA. 414 ATP binding|ATP-dependent helicase activity|RNA binding p.F413L(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) GTTCTCAGAGGAAAAGACTTT 0.373000 25 8 0 0 1 0 0 PRSS16 10279 broad.mit.edu 37 6 27222490 27222490 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr6:27222490C>T uc003nja.3 + 9 1184 c.1169C>T c.(1168-1170)cCc>cTc p.P390L PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Missense_Mutation_p.P133L|PRSS16_uc003njd.3_Intron NM_005865 NP_005856 Q9NQE7 TSSP_HUMAN Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA. 390 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 TGTGAGAATCCCAGATGTCCT 0.522000 182 20 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70585410 70585410 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr8:70585410G>A uc003xyl.3 - 9 2948 c.2241C>T c.(2239-2241)ttC>ttT p.F747F SLCO5A1_uc010lzb.3_Silent_p.F692F|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_3'UTR NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA. 747 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TAAACCCAACGAATTTGAGGC 0.488000 78 10 0 0 1 0 0 NXN 64359 broad.mit.edu 37 17 726987 726988 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:726987_726988CC>TT uc002fsa.3 - 2 576_577 c.496_497GG>AA c.(496-498)gga>AAa p.G166K NXN_uc002fsb.1_Missense_Mutation_p.G53K|NXN_uc010vqd.2_5'Flank|NXN_uc010vqe.2_Missense_Mutation_p.G58K NM_022463 NP_071908 Q6DKJ4 NXN_HUMAN Homo sapiens nucleoredoxin (NXN), transcript variant 1, mRNA. 166 Wnt receptor signaling pathway|cell differentiation|cell redox homeostasis|multicellular organismal development cytosol|nucleus protein-disulfide reductase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (25;0.0237) GGGTTTCGGTCCCCAGGGGAAC 0.545000 57 6 0 0 1 0 0 SLC6A1 6529 broad.mit.edu 37 3 11059590 11059590 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:11059590G>A uc010hdq.3 + 3 711 c.300G>A c.(298-300)ctG>ctA p.L100L NM_003042 NP_003033 P30531 SC6A1_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA. 100 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) TCTTCCTGCTGGAGTGCTCCC 0.577000 160 27 0 0 1 0 0 EXTL3 2137 broad.mit.edu 37 8 28574447 28574447 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr8:28574447G>A uc003xgz.1 + 2 1464 c.871G>A c.(871-873)Gtc>Atc p.V291I NM_001440 NP_001431 O43909 EXTL3_HUMAN Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA. 291 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) TCTCTATAACGTCAGTACTGG 0.522000 50 4 0 0 1 0 0 DZIP1 22873 broad.mit.edu 37 13 96237103 96237103 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr13:96237103C>T uc001vmk.3 - 21 3263 c.2411G>A c.(2410-2412)gGa>gAa p.G804E DZIP1_uc001vmj.3_Missense_Mutation_p.G280E|DZIP1_uc001vml.3_Missense_Mutation_p.G785E|DZIP1_uc001vmm.3_5'Flank NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA. 804 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) AGATTTTTTTCCCAAAGATAT 0.428000 34 4 0 0 1 0 0 IGHG1 3500 broad.mit.edu 37 14 106208028 106208028 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:106208028C>T uc001yse.3 - 4 819 c.373G>A c.(373-375)Gac>Aac p.D125N abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron RecName: Full=Ig gamma-1 chain C region; ACGGCGATGTCGCTGGGATAG 0.612000 183 66 0 0 1 0 0 OSBP2 23762 broad.mit.edu 37 22 31266588 31266588 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr22:31266588C>T uc003aiy.1 + 2 1130 c.1026C>T c.(1024-1026)atC>atT p.I342I OSBP2_uc011ala.1_Silent_p.I177I|OSBP2_uc010gwc.1_Silent_p.I169I|OSBP2_uc003aix.1_Silent_p.I342I|OSBP2_uc011alb.1_Silent_p.I342I|OSBP2_uc003aiz.1_Silent_p.I342I|OSBP2_uc003aja.1_5'UTR|OSBP2_uc011alc.2_Silent_p.I84I NM_030758 NP_110385 Q969R2 OSBP2_HUMAN Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA. 342 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 GCCTCAAGATCCCATCTGAGA 0.577000 49 7 0 0 1 0 0 RNF139 11236 broad.mit.edu 37 8 125498264 125498264 + Nonsense_Mutation SNP C A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr8:125498264C>A uc003yrc.3 + 1 717 c.374C>A c.(373-375)tCg>tAg p.S125* NM_007218 NP_009149 Q8WU17 RN139_HUMAN Homo sapiens ring finger protein 139 (RNF139), mRNA. 125 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1) 20 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) AAAGGTCCCTCGCTGTGGATG 0.398000 65 3 0.014758 0.0149296 1 1 0 abParts 0 broad.mit.edu 37 14 106725652 106725652 + RNA SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr14:106725652C>T uc021ser.1 - 926 c.21961G>A Parts of antibodies, mostly variable regions. GCCCAAACTCCATGGTGAGTT 0.458000 148 12 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14488280 14488280 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:14488280C>T uc003jff.3 + 47 7549 c.7543C>T c.(7543-7545)Cgc>Tgc p.R2515C TRIO_uc003jfg.3_Intron|TRIO_uc003jfh.1_Missense_Mutation_p.R2164C NM_007118 NP_009049 O75962 TRIO_HUMAN Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA. 2515 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) GCAGACACCCCGCCACGCGGC 0.711000 31 7 0 0 1 0 0 CALD1 800 broad.mit.edu 37 7 134618619 134618619 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:134618619G>A uc003vrz.3 + 4 1565 c.1099G>A c.(1099-1101)Gca>Aca p.A367T CALD1_uc003vry.3_Intron|CALD1_uc003vsb.3_Intron|CALD1_uc011kpt.2_Intron|CALD1_uc010lmm.3_Intron|CALD1_uc003vsc.3_Intron|CALD1_uc003vsd.3_Intron|CALD1_uc011kpu.2_Intron|CALD1_uc011kpv.2_Intron|CALD1_uc003vse.3_Missense_Mutation_p.A231T NM_033138 NP_149129 Q05682 CALD1_HUMAN Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA. 367 3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K. cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 gaaaagggcagcagaggagag 0.507000 20 3 0 0 1 0 0 OR2G3 81469 broad.mit.edu 37 1 247769724 247769724 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:247769724C>T uc010pyz.2 + 0 837 c.837C>T c.(835-837)acC>acT p.T279T NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA. 279 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TCTTCTACACCATGGTGACCC 0.428000 42 4 0 0 1 0 0 PLXNB3 5365 broad.mit.edu 37 X 153036993 153036993 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chrX:153036993G>A uc010nuk.2 + 14 2740 c.2469G>A c.(2467-2469)gcG>gcA p.A823A PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Silent_p.A482A|PLXNB3_uc004fii.2_Silent_p.A800A|PLXNB3_uc011mzd.1_Silent_p.A439A|PLXNB3_uc004fij.1_5'Flank NM_001163257 NP_001156729 Q9ULL4 PLXB3_HUMAN Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA. 800 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) ACTGCCAAGCGGCCAACAGGA 0.682000 31 8 0 0 1 0 0 CHST1 8534 broad.mit.edu 37 11 45672385 45672385 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr11:45672385G>A uc021qgn.1 - 0 89 c.89C>T c.(88-90)tCc>tTc p.S30F CHST1_uc001mys.2_Missense_Mutation_p.S30F NM_003654 NP_003645 O43916 CHST1_HUMAN Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA. 30 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GGTGTGAAAGGACTTGGCGGT 0.652000 132 13 0 0 1 0 0 SGK1 6446 broad.mit.edu 37 6 134492024 134492024 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr6:134492024G>A uc003qen.4 - 10 1157 c.1068C>T c.(1066-1068)tcC>tcT p.S356S SGK1_uc003qeo.4_Silent_p.S451S|SGK1_uc011ect.2_Silent_p.S346S|SGK1_uc011ecu.2_Silent_p.S312S|SGK1_uc011ecv.2_Silent_p.S370S|SGK1_uc011ecw.2_Silent_p.S384S NM_005627 NP_005618 O00141 SGK1_HUMAN Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA. 356 AGC-kinase C-terminal. apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1) 46 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) AGTTAATTAAGGAGAAGAAGA 0.393000 58 5 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139158223 139158223 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr8:139158223G>A uc003yuy.3 - 14 3690 c.3519C>T c.(3517-3519)ttC>ttT p.F1173F FAM135B_uc003yux.3_Silent_p.F1074F|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.F735F|FAM135B_uc003yvb.3_Missense_Mutation_p.P701S NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 1173 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CAGACATTAGGAAGTCCAGTT 0.438000 HNSCC(54;0.14) 44 7 0 0 1 0 0 ECE2 9718 broad.mit.edu 37 3 184008435 184008435 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:184008435C>T uc003fni.4 + 14 2138 c.2100C>T c.(2098-2100)ttC>ttT p.F700F ECE2_uc011brh.1_Silent_p.F553F|ECE2_uc003fnl.4_Silent_p.F628F|ECE2_uc003fnm.4_Silent_p.F582F|ECE2_uc003fnk.4_Silent_p.F553F|ECE2_uc011bri.1_Silent_p.F615F|ECE2_uc010hxv.3_Silent_p.F344F NM_014693 NP_055508 O60344 ECE2_HUMAN Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA. 700 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing Golgi membrane|cytoplasmic vesicle membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGGCCCCCTTCTATGCCCGCA 0.622000 154 20 0 0 1 0 0 AKNA 80709 broad.mit.edu 37 9 117138988 117138988 + Missense_Mutation SNP G C C TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr9:117138988G>C uc004biq.3 - 1 1234 c.1099C>G c.(1099-1101)Cgg>Ggg p.R367G AKNA_uc004bio.3_5'UTR|AKNA_uc004bip.3_Missense_Mutation_p.R286G|AKNA_uc004bir.3_Missense_Mutation_p.R367G|AKNA_uc004bis.3_Missense_Mutation_p.R367G|AKNA_uc010mve.2_Missense_Mutation_p.R248G|AKNA_uc004biu.1_Missense_Mutation_p.R108G|AKNA_uc004biv.1_Missense_Mutation_p.R367G|AKNA_uc004biw.1_Missense_Mutation_p.R367G NM_030767 NP_110394 Q7Z591 AKNA_HUMAN Homo sapiens AT-hook transcription factor (AKNA), mRNA. 367 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.R367W(2) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 AATCTCACCCGGGGCCCTACC 0.607000 36 4 0 0 1 0 0 NOS2 4843 broad.mit.edu 37 17 26115904 26115904 + Silent SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:26115904C>T uc002gzu.3 - 3 513 c.249G>A c.(247-249)cgG>cgA p.R83R NOS2_uc010crh.1_Silent_p.R83R|NOS2_uc010wab.1_Silent_p.R83R NM_000625 NP_000616 P35228 NOS2_HUMAN Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA. 83 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) TCCTCACATGCCGTGGGGAGG 0.527000 232 16 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197391051 197391051 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:197391051G>A uc001gtz.3 + 5 2302 c.2093G>A c.(2092-2094)tGc>tAc p.C698Y CRB1_uc010poz.2_Missense_Mutation_p.C629Y|CRB1_uc009wza.3_Missense_Mutation_p.C586Y|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.C698Y|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.C179Y|CRB1_uc001gub.1_Missense_Mutation_p.C347Y NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 698 EGF-like 12. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CAGTGTGACTGCCACAGGCCC 0.517000 47 4 0 0 1 0 0 SIN3A 25942 broad.mit.edu 37 15 75693124 75693124 + Missense_Mutation SNP G T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr15:75693124G>T uc002bai.3 - 10 1943 c.1684C>A c.(1684-1686)Cca>Aca p.P562T SIN3A_uc002baj.3_Missense_Mutation_p.P562T|SIN3A_uc010uml.2_Missense_Mutation_p.P562T NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA. 562 Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130. P -> G (in Ref. 4; AAK95854). blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent Sin3 complex|nucleolus protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 TAACTCTTTGGTAAGGCTCGA 0.493000 30 3 0.004672 0.00474472 1 1 0 ZNF750 79755 broad.mit.edu 37 17 80789224 80789224 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:80789224G>A uc002kga.3 - 1 1418 c.1107C>T c.(1105-1107)gaC>gaT p.D369D TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.3_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN Homo sapiens zinc finger protein 750 (ZNF750), mRNA. 369 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TTCTGTTGGGGTCCGAAGGGT 0.557000 191 18 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114203843 114203843 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr4:114203843C>T uc003ibe.4 + 17 1994 c.1894C>T c.(1894-1896)Ccg>Tcg p.P632S ANK2_uc003ibd.4_Missense_Mutation_p.P611S|ANK2_uc003ibf.4_Missense_Mutation_p.P632S|ANK2_uc003ibc.2_Missense_Mutation_p.P608S|ANK2_uc011cgb.1_Missense_Mutation_p.P647S NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 632 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TGGCTATACTCCGTTACATAT 0.348000 13 5 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103724 53103724 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:53103724G>A uc003tpz.3 + 0 376 c.360G>A c.(358-360)atG>atA p.M120I NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 120 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 AGGGTTGCATGAAAGGGGGGC 0.706000 58 8 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143807033 143807033 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:143807033G>A uc011ktz.2 + 0 358 c.358G>A c.(358-360)Gat>Aat p.D120N NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA. 120 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) GATGTCCTATGATAGGTATGT 0.468000 51 6 0 0 1 0 0 CELF5 60680 broad.mit.edu 37 19 3282252 3282252 + Silent SNP C T T rs144542912 TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr19:3282252C>T uc002lxm.3 + 6 916 c.879C>T c.(877-879)atC>atT p.I293I CELF5_uc010dtj.2_Silent_p.I293I|CELF5_uc002lxl.2_Silent_p.I293I|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript NM_021938 NP_068757 Q8N6W0 CELF5_HUMAN Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA. 293 I -> V (in Ref. 5; AAK07476). mRNA processing cytoplasm|nucleus RNA binding|nucleotide binding kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1) 13 CCACACCCATCGCTCCTGCCT 0.672000 17 5 0 0 1 0 0 CHAMP1 283489 broad.mit.edu 37 13 115090383 115090384 + Missense_Mutation DNP CC TT TT TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr13:115090383_115090384CC>TT uc001vuv.3 + 2 1398_1399 c.1066_1067CC>TT c.(1066-1068)cct>TTt p.P356F CHAMP1_uc010tko.2_Missense_Mutation_p.P356F|CHAMP1_uc010ahb.3_Missense_Mutation_p.P356F|CHAMP1_uc021rmx.1_Missense_Mutation_p.P356F NM_032436 NP_115812 Q96JM3 ZN828_HUMAN Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA. 356 Mediates interaction with MAD2L2.|Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding TTCTGTATCTCCTGGACCTTGG 0.500000 103 8 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108489194 108489194 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:108489194G>A uc010ywk.2 + 19 4816 c.4734G>A c.(4732-4734)ttG>ttA p.L1578L RGPD4_uc002tdu.3_Silent_p.L765L|RGPD4_uc010ywl.2_Intron NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA. 1578 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 ATGCATCTTTGAAAAGTAACA 0.353000 98 25 0 0 1 0 0 PLA2G5 5322 broad.mit.edu 37 1 20412721 20412721 + Splice_Site SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:20412721G>A uc001bcx.3 + 8 1141 c.278_splice c.e8+1 p.W93_splice PLA2G5_uc001bcy.3_Splice_Site_p.W62_splice NM_000929 NP_000920 P39877 PA2G5_HUMAN Homo sapiens phospholipase A2, group V (PLA2G5), mRNA. 62 lipid catabolic process extracellular region calcium ion binding|calcium-dependent phospholipase A2 activity NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652) GCACCGATTGGTGAGCTGATC 0.517000 82 11 0 0 1 0 0 FER1L5 90342 broad.mit.edu 37 2 97366109 97366109 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:97366109G>A uc010fia.3 + 43 5052 c.5052G>A c.(5050-5052)aaG>aaA p.K1684K FER1L5_uc002sws.4_Silent_p.K402K|FER1L5_uc010yus.2_Silent_p.K401K NM_001113382 NP_001106853 A0AVI2 FR1L5_HUMAN Homo sapiens fer-1-like 5 (C. elegans) (FER1L5), mRNA. 1684 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 GACCCAAGAAGGAACGCCTTG 0.587000 64 10 0 0 1 0 0 EIF2D 1939 broad.mit.edu 37 1 206772928 206772928 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:206772928G>A uc001heh.2 - 9 1300 c.1091C>T c.(1090-1092)tCc>tTc p.S364F EIF2D_uc009xbw.2_Missense_Mutation_p.S240F NM_006893 NP_008824 P41214 EIF2D_HUMAN Homo sapiens eukaryotic translation initiation factor 2D (EIF2D), transcript variant 1, mRNA. 364 intracellular protein transport cytoplasm protein binding|receptor activity|translation initiation factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 GATAGTCTGGGAGGTCGGGGA 0.507000 88 16 0 0 1 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42281705 42281705 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr15:42281705C>T uc021sjp.1 - 14 1631 c.1631G>A c.(1630-1632)gGg>gAg p.G544E PLA2G4E_uc010udc.2_5'UTR|PLA2G4E_uc001zov.2_Missense_Mutation_p.G168E NM_001206670 NP_001193599 Q3MJ16 PA24E_HUMAN Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA. 532 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) GATGAAGGCCCCATACTTCTG 0.612000 OREG0023079 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 6 0 0 1 0 0 ASIC3 9311 broad.mit.edu 37 7 150746324 150746324 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:150746324G>A uc003wio.2 + 0 720 c.352G>A c.(352-354)Gat>Aat p.D118N ASIC3_uc003win.2_Missense_Mutation_p.D118N|ASIC3_uc003wip.2_Missense_Mutation_p.D118N|ASIC3_uc003wiq.2_Non-coding_Transcript NM_020321 NP_064717 Q9UHC3 ACCN3_HUMAN Homo sapiens amiloride-sensitive cation channel 3 (ACCN3), transcript variant 2, mRNA. 118 sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity GCTGGGCCTGGATCCCGCAGA 0.687000 76 19 0 0 1 0 0 TMCC1 23023 broad.mit.edu 37 3 129547017 129547017 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr3:129547017C>T uc021xdy.1 - 2 639 c.205G>A c.(205-207)Gat>Aat p.D69N TMCC1_uc010htg.3_Intron NM_001017395 NP_001121696 O94876 TMCC1_HUMAN Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA. 69 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 TGCTGCACATCATGTGGAGAC 0.502000 65 8 0 0 1 0 0 IMPDH1 3614 broad.mit.edu 37 7 128041115 128041115 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr7:128041115G>A uc011kol.1 - 2 309 c.203C>T c.(202-204)tCc>tTc p.S68F IMPDH1_uc011kom.1_Missense_Mutation_p.S68F|IMPDH1_uc003vmt.2_Missense_Mutation_p.S68F|IMPDH1_uc003vmu.2_Missense_Mutation_p.S153F|IMPDH1_uc003vmx.2_Missense_Mutation_p.S76F|IMPDH1_uc003vmy.2_Missense_Mutation_p.S84F|IMPDH1_uc003vmw.2_Missense_Mutation_p.S143F|IMPDH1_uc011kon.1_Missense_Mutation_p.S120F|IMPDH1_uc003vmv.2_Missense_Mutation_p.S117F|DQ579129_uc022alb.1_5'Flank NM_001142573 NP_001136045 P20839 IMDH1_HUMAN Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA. 68 GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3) 22 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) GTCCATGGGGGAGGAGATCAG 0.577000 90 15 0 0 1 0 0 ADAL 161823 broad.mit.edu 37 15 43641177 43641177 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr15:43641177C>T uc010udo.2 + 9 1199 c.625C>T c.(625-627)Ctc>Ttc p.L209F ADAL_uc001zrh.3_Missense_Mutation_p.L236F|ADAL_uc001zri.2_Missense_Mutation_p.L121F NM_001159280 NP_001152752 Q6DHV7 ADAL_HUMAN Homo sapiens adenosine deaminase-like (ADAL), transcript variant 1, mRNA. 236 adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process adenosine deaminase activity|metal ion binding endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1) 7 all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;9.31e-07) TGGAACATTTCTCAACTCCGG 0.473000 66 9 0 0 1 0 0 OTOA 146183 broad.mit.edu 37 16 21730787 21730787 + Missense_Mutation SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr16:21730787G>A uc002djh.3 + 15 1769 c.1768G>A c.(1768-1770)Gat>Aat p.D590N LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.D511N|OTOA_uc002dji.3_Missense_Mutation_p.D266N|OTOA_uc010vbk.2_Missense_Mutation_p.D238N NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA. 604 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) CCATTTCCAGGATTTTCAGAA 0.498000 81 6 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103909754 103909754 + Silent SNP T C C TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr10:103909754T>C uc001kum.3 + 13 5002 c.4963T>C c.(4963-4965)Ttg>Ctg p.L1655L PPRC1_uc001kun.3_Silent_p.L1533L|PPRC1_uc010qqj.2_Silent_p.L1391L|PPRC1_uc009xxa.3_Non-coding_Transcript|NOLC1_uc001kuo.2_5'Flank|NOLC1_uc001kup.2_5'Flank|NOLC1_uc001kuq.2_5'Flank|NOLC1_uc009xxb.1_5'Flank|NOLC1_uc001kur.2_5'Flank NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA. 1655 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus RNA binding|nucleotide binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) TGACACATTGTTGAAACAGGC 0.488000 79 20 0 0 1 0 0 TMEM63A 9725 broad.mit.edu 37 1 226050548 226050548 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:226050548G>A uc001hpm.2 - 10 1372 c.750C>T c.(748-750)gaC>gaT p.D250D NM_014698 NP_055513 O94886 TM63A_HUMAN Homo sapiens transmembrane protein 63A (TMEM63A), mRNA. 250 integral to membrane|lysosomal membrane nucleotide binding breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) TGGGATACGCGTCCCTGTGGC 0.567000 68 8 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113163201 113163201 + Missense_Mutation SNP A C C TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr9:113163201A>C uc010mtz.3 - 39 10092 c.9755T>G c.(9754-9756)gTg>gGg p.V3252G SVEP1_uc010mty.3_Missense_Mutation_p.V1178G NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 3252 Sushi 31. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 ACTGCCAACCACAAATCCATG 0.403000 24 3 0 0 1 0 0 PTGS2 5743 broad.mit.edu 37 1 186648534 186648534 + Missense_Mutation SNP C T T TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr1:186648534C>T uc001gsb.3 - 1 226 c.89G>A c.(88-90)gGt>gAt p.G30D PTGS2_uc009wyo.3_5'UTR NM_000963 NP_000954 P35354 PGH2_HUMAN Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA. 30 EGF-like. cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154) CATACATACACCTCGGTTTTG 0.388000 47 8 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480755 140480755 + Silent SNP G A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr5:140480755G>A uc003lio.3 + 0 522 c.522G>A c.(520-522)ccG>ccA p.P174P BC016751_uc003lin.3_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN Homo sapiens protocadherin beta 3 (PCDHB3), mRNA. 174 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTATCACTCCGAATTCCCACT 0.507000 104 10 0 0 1 0 0 GAL3ST2 64090 broad.mit.edu 37 2 242738494 242738496 + In_Frame_Del DEL TCC - - TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr2:242738494_242738496delTCC uc002wcj.1 + 1 175_177 c.44_46delTCC c.(43-48)atcctc>atc p.L20del NM_022134 NP_071417 Q9H3Q3 G3ST2_HUMAN Homo sapiens galactose-3-O-sulfotransferase 2 (GAL3ST2), mRNA. 20 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity p.L16I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TTCCGGGTCATCCTCCTCCTCCT 0.631 --- 295 --- --- 8 --- DDX5 1655 broad.mit.edu 37 17 62496834 62496835 + Frame_Shift_Ins INS - A A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d505e6e9-3d94-4e2f-8fa1-dd5d0b253ab7 84f4e083-573b-4c7e-9998-ad9aa5bc4df1 g.chr17:62496834_62496835insA uc010deh.2 - 11 1316_1317 c.1273_1274insT c.(1273-1275)tatfs p.Y425fs DDX5_uc002jek.2_Frame_Shift_Ins_p.Y425fs|DDX5_uc002jej.2_Frame_Shift_Ins_p.Y320fs|DDX5_uc010wqa.1_Frame_Shift_Ins_p.Y346fs NM_004396 NP_004387 P17844 DDX5_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA. 425 Helicase C-terminal. cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 19 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) TCGATGAATATAATCCTCTGAG 0.396 T ETV4 prostate --- 127 --- --- 17 ---