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 t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut RYR2 6262 broad.mit.edu 37 1 237813181 237813181 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:237813181C>T ENST00000366574.2 + 50 7834 c.7517C>T c.(7516-7518)gCt>gTt p.A2506V RYR2_ENST00000360064.6_Missense_Mutation_p.A2504V|RYR2_ENST00000542537.1_Missense_Mutation_p.A2490V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2506 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTTCAGGCAGCTTTGAGTGCT 0.458000 24 120 0 0 0.003330 0 0 CIT 11113 broad.mit.edu 37 12 120135562 120135562 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:120135562C>T ENST00000392521.2 - 46 5839 c.5784G>A c.(5782-5784)gcG>gcA p.A1928A CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.A1886A NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 1886 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) GGTATGAGGACGCCAAGTAAA 0.602000 32 105 0 0 0.010818 0 0 POU6F2 11281 broad.mit.edu 37 7 39247051 39247051 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:39247051C>A ENST00000518318.2 + 4 385 c.343C>A c.(343-345)Cca>Aca p.P115T POU6F2_ENST00000403058.1_Missense_Mutation_p.P115T|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Missense_Mutation_p.P107T P78424 PO6F2_HUMAN POU class 6 homeobox 2 115 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 GGGAGGCCCCCCAGCCCTCAA 0.577000 71 201 1.45978e-39 2.82105e-39 0.003610 1 0 OR2A5 393046 broad.mit.edu 37 7 143748127 143748127 + Silent SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:143748127C>G ENST00000408906.2 + 1 667 c.633C>G c.(631-633)ctC>ctG p.L211L NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) TGGGGCCGCTCTGCCTGGTGC 0.602000 69 172 0 0 0.003610 0 0 ERN2 10595 broad.mit.edu 37 16 23703538 23703538 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr16:23703538G>T ENST00000256797.4 - 18 2527 c.2359C>A c.(2359-2361)Ccc>Acc p.P787T ERN2_ENST00000457008.2_Missense_Mutation_p.P687T NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 739 KEN. apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) GCCAGACAGGGAGCCCCTGTG 0.607000 59 65 1.13205e-32 2.17436e-32 0.003610 1 0 BEND2 139105 broad.mit.edu 37 X 18230737 18230737 + Missense_Mutation SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:18230737T>C ENST00000380033.4 - 4 572 c.440A>G c.(439-441)tAc>tGc p.Y147C BEND2_ENST00000380030.3_Missense_Mutation_p.Y147C NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 147 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 CTCTGAGTTGTAACTGTATCT 0.338000 10 71 0 0 0.001855 0 0 DYSF 8291 broad.mit.edu 37 2 71886086 71886086 + Nonsense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:71886086C>T ENST00000258104.3 + 43 4994 c.4717C>T c.(4717-4719)Cag>Tag p.Q1573* DYSF_ENST00000410020.3_Nonsense_Mutation_p.Q1612*|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Nonsense_Mutation_p.Q1595*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.Q1605*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.Q1611*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.Q1591*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.Q1590*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.Q1574*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.Q1581*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.Q1594*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.Q1604* NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1573 C2 5. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GCTGGCCGCCCAGGGACCCCA 0.557000 27 119 0 0 0.008361 0 0 NLRP7 199713 broad.mit.edu 37 19 55451569 55451569 + Nonsense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:55451569G>T ENST00000446217.1 - 6 1104 c.702C>A c.(700-702)taC>taA p.Y234* NLRP7_ENST00000340844.2_Nonsense_Mutation_p.Y206*|NLRP7_ENST00000448121.2_Nonsense_Mutation_p.Y206*|NLRP7_ENST00000592784.1_Nonsense_Mutation_p.Y206*|NLRP7_ENST00000588756.1_Nonsense_Mutation_p.Y206*|NLRP7_ENST00000590030.1_Nonsense_Mutation_p.Y206*|NLRP7_ENST00000328092.5_Nonsense_Mutation_p.Y206* Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 206 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GGTAGAACGCGTATCTGAGCG 0.587000 32 58 1.39806e-14 2.2818e-14 0.008361 1 0 TAP1 6890 broad.mit.edu 37 6 32816584 32816584 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:32816584C>A ENST00000354258.4 - 7 1752 c.1591G>T c.(1591-1593)Gct>Tct p.A531S PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.A270S NM_000593.5 NP_000584.2 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 531 Involved in peptide-binding site. antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity cytosol|plasma membrane|TAP complex ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1) 21 GAGCCCACAGCCTTCTGTACT 0.527000 43 42 1.97e-11 2.96205e-11 0.010771 1 0 PGK2 5232 broad.mit.edu 37 6 49754702 49754702 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:49754702G>T ENST00000304801.3 - 1 351 c.199C>A c.(199-201)Cct>Act p.P67T NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 67 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) ACACCATCAGGCCGACCTAGA 0.483000 42 62 2.54651e-27 4.78895e-27 0.006999 1 0 GATM 2628 broad.mit.edu 37 15 45657019 45657019 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:45657019G>A ENST00000396659.3 - 7 1357 c.1018C>T c.(1018-1020)Cct>Tct p.P340S GATM_ENST00000558336.1_Missense_Mutation_p.P340S NM_001482.2 NP_001473.1 P50440 GATM_HUMAN glycine amidinotransferase (L-arginine:glycine amidinotransferase) 340 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 15 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) GGTGTTGGAGGAGTAATGATA 0.343000 6 13 0 0 0.003080 0 0 SDK2 54549 broad.mit.edu 37 17 71334933 71334933 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:71334933C>A ENST00000392650.3 - 45 6312 c.6312G>T c.(6310-6312)gaG>gaT p.E2104D SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.E2085D NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 2104 cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 CCGAGTCGCTCTCCGTGTAGC 0.617000 12 33 3.07112e-06 3.79373e-06 0.010729 1 0 NLRP7 199713 broad.mit.edu 37 19 55445885 55445885 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:55445885G>A ENST00000446217.1 - 9 2929 c.2527C>T c.(2527-2529)Cgc>Tgc p.R843C NLRP7_ENST00000340844.2_Missense_Mutation_p.R815C|NLRP7_ENST00000448121.2_Missense_Mutation_p.R787C|NLRP7_ENST00000592784.1_Missense_Mutation_p.R815C|NLRP7_ENST00000588756.1_Missense_Mutation_p.R815C|NLRP7_ENST00000590030.1_Missense_Mutation_p.R815C|NLRP7_ENST00000328092.5_Missense_Mutation_p.R787C Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 815 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TGTTTTGGGCGTGTCATGGTC 0.517000 14 81 0 0 0.002450 0 0 TTLL3 26140 broad.mit.edu 37 3 9877118 9877118 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:9877118G>A ENST00000547186.1 + 13 2480 c.2264G>A c.(2263-2265)gGg>gAg p.G755E TTLL3_ENST00000426895.4_Missense_Mutation_p.G898E|TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000383827.1_3'UTR|TTLL3_ENST00000397241.1_3'UTR NM_001025930.3 NP_001021100.3 Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 755 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) GCTGTTGGAGGGTCAAGAGTG 0.567000 16 135 0 0 0.004007 0 0 FBXO28 23219 broad.mit.edu 37 1 224318265 224318265 + Missense_Mutation SNP T T G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:224318265T>G ENST00000366862.5 + 2 402 c.359T>G c.(358-360)gTt>gGt p.V120G FBXO28_ENST00000424254.2_Missense_Mutation_p.V120G NM_015176.3 NP_055991.1 Q9NVF7 FBX28_HUMAN F-box protein 28 120 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1) 10 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.0363) CAGAAACAAGTTAAAGCACAA 0.393000 23 24 0 0 0.012319 0 0 ASRGL1 80150 broad.mit.edu 37 11 62123819 62123819 + Silent SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:62123819A>G ENST00000415229.2 + 3 428 c.213A>G c.(211-213)acA>acG p.T71T ASRGL1_ENST00000535727.1_Intron|ASRGL1_ENST00000301776.5_Silent_p.T71T NM_001083926.1 NP_001077395.1 Q7L266 ASGL1_HUMAN asparaginase like 1 71 asparagine catabolic process via L-aspartate|protein maturation cytoplasm|microtubule cytoskeleton|nucleus N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 7 L-Asparagine(DB00174)|L-Aspartic Acid(DB00128) TCTTGAACACAAATGGTGAGG 0.478000 32 67 0 0 0.012213 0 0 NIPAL3 57185 broad.mit.edu 37 1 24768626 24768626 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:24768626C>T ENST00000358028.4 + 4 593 c.244C>T c.(244-246)Ctg>Ttg p.L82L NIPAL3_ENST00000339255.2_Silent_p.L82L|NIPAL3_ENST00000374399.4_Silent_p.L82L|NIPAL3_ENST00000003912.3_5'UTR|NIPAL3_ENST00000428131.1_Silent_p.L82L Q6P499 NPAL3_HUMAN NIPA-like domain containing 3 82 integral to membrane endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1) 14 GGGCCTGTTCCTGATGCTTCT 0.577000 32 83 0 0 0.004289 0 0 STAG3 10734 broad.mit.edu 37 7 99809090 99809090 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:99809090G>T ENST00000426455.1 + 31 3850 c.3443G>T c.(3442-3444)aGg>aTg p.R1148M STAG3_ENST00000317296.5_Missense_Mutation_p.R1148M|STAG3_ENST00000394018.2_Missense_Mutation_p.R1090M|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA Q9UJ98 STAG3_HUMAN stromal antigen 3 1148 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAGAGGTCAAGGTTCTTGGGT 0.517000 48 135 3.10996e-30 5.9372e-30 0.003610 1 0 LIG3 3980 broad.mit.edu 37 17 33323635 33323635 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:33323635G>C ENST00000378526.4 + 11 1919 c.1786G>C c.(1786-1788)Gat>Cat p.D596H LIG3_ENST00000262327.5_Missense_Mutation_p.D596H NM_013975.3 NP_039269.2 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent 596 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1) 31 Ovarian(249;0.17) Bleomycin(DB00290) GTTTGTTTTTGATTGTATCTA 0.403000 Other BER factors 16 117 0 0 0.006122 0 0 PTPN14 5784 broad.mit.edu 37 1 214575100 214575100 + Silent SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:214575100T>C ENST00000366956.5 - 7 791 c.597A>G c.(595-597)gcA>gcG p.A199A PTPN14_ENST00000543945.1_Intron NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 199 FERM. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GTTCAGCTTCTGCTGGCAGGA 0.443000 65 60 0 0 0.003610 0 0 NRK 203447 broad.mit.edu 37 X 105152724 105152724 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:105152724C>A ENST00000428173.2 + 13 1397 c.1094C>A c.(1093-1095)cCc>cAc p.P365H NRK_ENST00000243300.9_Missense_Mutation_p.P364H Q7Z2Y5 NRK_HUMAN Nik related kinase 364 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 TTTAGAGGACCCTCTTGCACT 0.443000 HNSCC(51;0.14) 9 52 2.17888e-05 2.58025e-05 0.006214 1 0 BDP1 55814 broad.mit.edu 37 5 70809190 70809190 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:70809190A>G ENST00000358731.4 + 19 4689 c.4426A>G c.(4426-4428)Atg>Gtg p.M1476V BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 1476 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GACTATTGTGATGCAAGAAAA 0.328000 9 207 0 0 0.006214 0 0 HEATR5A 25938 broad.mit.edu 37 14 31855777 31855777 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr14:31855777G>A ENST00000543095.2 - 9 1378 c.1194C>T c.(1192-1194)gcC>gcT p.A398A HEATR5A_ENST00000404677.3_Silent_p.A398A|HEATR5A_ENST00000439348.1_Silent_p.A392A|HEATR5A_ENST00000439727.1_Silent_p.A105A|HEATR5A_ENST00000389961.3_Silent_p.A392A NM_015473.3 NP_056288.2 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 392 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) CACTCATTACGGCATCTGATA 0.373000 10 164 0 0 0.006214 0 0 AMER1 139285 broad.mit.edu 37 X 63411318 63411318 + Nonsense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:63411318C>A ENST00000330258.3 - 2 2121 c.1849G>T c.(1849-1851)Gaa>Taa p.E617* AMER1_ENST00000374869.3_Nonsense_Mutation_p.E617*|AMER1_ENST00000403336.1_Nonsense_Mutation_p.E617* NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67)|p.E617*(2) CCATGAGCTTCCCAAGTGTGG 0.637000 5 39 0.000602214 0.000670309 0.000602 1 0 NTRK3 4916 broad.mit.edu 37 15 88690601 88690601 + Silent SNP C C A rs138266478 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:88690601C>A ENST00000394480.1 - 6 750 c.429G>T c.(427-429)tcG>tcT p.S143S NTRK3_ENST00000558676.1_Silent_p.S143S|NTRK3_ENST00000557856.1_Silent_p.S143S|NTRK3_ENST00000357724.2_Silent_p.S143S|NTRK3_ENST00000542733.2_Silent_p.S45S|NTRK3_ENST00000355254.2_Silent_p.S143S|NTRK3_ENST00000317501.3_Silent_p.S143S|NTRK3_ENST00000540489.2_Silent_p.S143S|NTRK3_ENST00000360948.2_Silent_p.S143S NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 143 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) AGAGCTGCCACGAGAGTGTGG 0.453000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 11 23 0.000978159 0.00108493 0.010729 1 0 NUPL1 9818 broad.mit.edu 37 13 25899149 25899149 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr13:25899149C>T ENST00000463407.1 + 10 1117 c.974C>T c.(973-975)gCt>gTt p.A325V NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381736.3_Missense_Mutation_p.A325V|NUPL1_ENST00000381718.3_Missense_Mutation_p.A313V Q9BVL2 NUPL1_HUMAN nucleoporin like 1 325 14 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1) 16 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244) GCTGAAATAGCTTTAAGAACC 0.328000 4 45 0 0 0.000602 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21358833 21358833 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:21358833C>A ENST00000256958.2 + 11 1459 c.1363C>A c.(1363-1365)Cca>Aca p.P455T NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 455 Kazal-like. bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TAGAGATGTACCACTTTCTTA 0.383000 18 42 2.4624e-09 3.46274e-09 0.008871 1 0 EDIL3 10085 broad.mit.edu 37 5 83433124 83433124 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:83433124G>T ENST00000296591.5 - 5 822 c.404C>A c.(403-405)aCa>aAa p.T135K EDIL3_ENST00000380138.3_Missense_Mutation_p.T125K NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 135 EGF-like 3. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) AACAAGATCTGTACATATTCC 0.368000 12 81 0.000219431 0.000249985 0.002450 1 0 REG1A 5967 broad.mit.edu 37 2 79348739 79348739 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:79348739G>A ENST00000233735.1 + 3 219 c.116G>A c.(115-117)gGc>gAc p.G39D NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 39 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 TGCCCAGAAGGCACCAATGCC 0.532000 83 194 0 0 0.003610 0 0 PLB1 151056 broad.mit.edu 37 2 28739673 28739673 + Splice_Site SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:28739673A>T ENST00000422425.2 + 2 99 c.e2-1 PLB1_ENST00000327757.5_Splice_Site NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) GCTTTCTTTCAGGGACCCCTC 0.488000 28 77 0 0 0.005443 0 0 PRAME 23532 broad.mit.edu 37 22 22893340 22893340 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr22:22893340G>T ENST00000543184.1 - 3 1055 c.193C>A c.(193-195)Cac>Aac p.H65N PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000539862.1_Missense_Mutation_p.H49N|PRAME_ENST00000406503.1_Missense_Mutation_p.H65N|PRAME_ENST00000398743.2_Missense_Mutation_p.H65N|PRAME_ENST00000398741.1_Missense_Mutation_p.H65N|PRAME_ENST00000405655.3_Missense_Mutation_p.H65N|PRAME_ENST00000402697.1_Missense_Mutation_p.H65N|PRAME_ENST00000424204.2_Missense_Mutation_p.H49N NM_206953.1 NP_996836.1 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 65 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) GTCTGGCTGTGTCTCCCGTCA 0.612000 17 89 2.39187e-15 3.96547e-15 0.008871 1 0 KIAA0922 23240 broad.mit.edu 37 4 154524568 154524568 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:154524568A>T ENST00000409959.3 + 24 2802 c.2753A>T c.(2752-2754)aAt>aTt p.N918I KIAA0922_ENST00000409663.3_Missense_Mutation_p.N917I|KIAA0922_ENST00000440693.1_Missense_Mutation_p.N834I NM_001131007.1 NP_001124479.1 A2VDJ0 T131L_HUMAN KIAA0922 917 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) CAGCAAAACAATGGTCCTATG 0.413000 7 56 0 0 0.003080 0 0 C17orf102 400591 broad.mit.edu 37 17 32904574 32904574 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:32904574G>T ENST00000357754.1 - 2 564 c.476C>A c.(475-477)gCt>gAt p.A159D NM_207454.2 NP_997337.2 A2RUQ5 CQ102_HUMAN chromosome 17 open reading frame 102 159 central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1) 9 gaggacaagagctggttttgt 0.473000 10 30 2.52707e-12 3.86421e-12 0.006214 1 0 WBP11P1 441818 broad.mit.edu 37 18 30093540 30093540 + RNA SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:30093540C>T ENST00000567636.1 + 0 1915 NR_003558.1 TCACTAATCCCAAGGCAGAGA 0.483000 44 291 0 0 0.003610 0 0 KIF19 124602 broad.mit.edu 37 17 72346894 72346894 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:72346894G>A ENST00000389916.4 + 12 1575 c.1437G>A c.(1435-1437)caG>caA p.Q479Q NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 479 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 GGGAGGAGCAGCGAAAGGAGT 0.652000 43 90 0 0 0.013114 0 0 ANKRD13D 338692 broad.mit.edu 37 11 67059113 67059113 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:67059113G>T ENST00000447274.2 + 5 1351 c.176G>T c.(175-177)cGc>cTc p.R59L ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R59L|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R59L|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R146L Q6ZTN6 AN13D_HUMAN ankyrin repeat domain 13 family, member D 59 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GATGTGTACCGCGTGTGGAAG 0.622000 22 57 1.10513e-12 1.72335e-12 0.002299 1 0 OR2W3 343171 broad.mit.edu 37 1 248059128 248059128 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:248059128G>A ENST00000537741.1 + 3 497 c.240G>A c.(238-240)caG>caA p.Q80Q OR2W3_ENST00000360358.3_Silent_p.Q80Q Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCATCCCCCAGCTGCTCTACA 0.587000 29 174 0 0 0.006320 0 0 SLC12A4 6560 broad.mit.edu 37 16 67997387 67997387 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr16:67997387C>T ENST00000316341.3 - 2 331 c.191G>A c.(190-192)aGg>aAg p.R64K SLC12A4_ENST00000576616.1_Missense_Mutation_p.R64K|SLC12A4_ENST00000537830.2_Missense_Mutation_p.R58K|SLC12A4_ENST00000338335.3_Missense_Mutation_p.R64K|SLC12A4_ENST00000422611.2_Intron|SLC12A4_ENST00000572037.1_Intron|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R33K NM_001145961.1|NM_005072.4 NP_001139433.1|NP_005063.1 Q9UP95 S12A4_HUMAN solute carrier family 12 (potassium/chloride transporter), member 4 64 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) TGCCAGGTTCCTGTCATAGTA 0.547000 25 31 0 0 0.007291 0 0 FRMPD1 22844 broad.mit.edu 37 9 37707468 37707468 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:37707468C>A ENST00000539465.1 + 3 750 c.157C>A c.(157-159)Cct>Act p.P53T RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.P53T Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 53 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) GACCCTCATCCCTGTGCGACA 0.502000 41 86 8.69298e-16 1.45267e-15 0.006999 1 0 SLC26A10 65012 broad.mit.edu 37 12 58018651 58018651 + Missense_Mutation SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:58018651C>G ENST00000379218.2 + 11 1648 c.1337C>G c.(1336-1338)tCc>tGc p.S446C SLC26A10_ENST00000490243.1_3'UTR|SLC26A10_ENST00000320442.4_Silent_p.L410L Q8NG04 S2610_HUMAN solute carrier family 26, member 10 0 STAS. integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) CCTCTTAGCTCCTCCAGGTCC 0.587000 21 85 0 0 0.002299 0 0 TRAF5 7188 broad.mit.edu 37 1 211534059 211534059 + Silent SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:211534059T>C ENST00000261464.5 + 6 613 c.559T>C c.(559-561)Ttg>Ctg p.L187L TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000367004.3_Silent_p.L187L|TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000336184.2_Silent_p.L187L NM_001033910.2 NP_001029082.1 O00463 TRAF5_HUMAN TNF receptor-associated factor 5 187 apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis CD40 receptor complex|centrosome|internal side of plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144) TGAGGAAAACTTGTGTCCTGA 0.368000 7 43 0 0 0.003080 0 0 PVRL4 81607 broad.mit.edu 37 1 161049471 161049471 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:161049471G>A ENST00000368012.3 - 2 650 c.348C>T c.(346-348)aaC>aaT p.N116N NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 116 Ig-like V-type 1. adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CCTGCACTGCGTTGCGCAGGA 0.701000 7 51 0 0 0.001984 0 0 BCORL1 63035 broad.mit.edu 37 X 129149581 129149581 + Nonsense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:129149581C>T ENST00000540052.1 + 3 2877 c.2833C>T c.(2833-2835)Cga>Tga p.R945* BCORL1_ENST00000359304.2_Nonsense_Mutation_p.R945*|BCORL1_ENST00000218147.7_Nonsense_Mutation_p.R945*|BCORL1_ENST00000303743.5_Nonsense_Mutation_p.R945* NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 945 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 TGGGGACATTCGAATGAATCA 0.577000 16 130 0 0 0.004007 0 0 A2M 2 broad.mit.edu 37 12 9230301 9230301 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:9230301A>G ENST00000318602.7 - 26 3579 c.3272T>C c.(3271-3273)aTa>aCa p.I1091T NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 1091 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) ATTCACCTTTATGGCATTGTT 0.438000 12 60 0 0 0.002450 0 0 TRBV27 28560 broad.mit.edu 37 7 142423431 142423431 + RNA SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:142423431C>A ENST00000506718.1 + 0 439 TRBV27_ENST00000390399.3_RNA ACCCAAGATACCTCATCACAG 0.493000 30 74 2.47511e-08 3.3606e-08 0.008361 1 0 LAMA2 3908 broad.mit.edu 37 6 129762043 129762043 + Silent SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:129762043A>G ENST00000421865.2 + 43 6217 c.6168A>G c.(6166-6168)acA>acG p.T2056T NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2056 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CACAGATTACAGAGCTCCACC 0.463000 11 25 0 0 0.010729 0 0 LAMA3 3909 broad.mit.edu 37 18 21512237 21512237 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:21512237G>A ENST00000313654.9 + 66 8931 c.8690G>A c.(8689-8691)aGc>aAc p.S2897N LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.S1232N|LAMA3_ENST00000269217.6_Missense_Mutation_p.S1288N|LAMA3_ENST00000399516.3_Missense_Mutation_p.S2841N NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2897 Laminin G-like 3. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTTGTATTAGCAATGTTTTT 0.468000 33 73 0 0 0.003271 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870553 51870553 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr20:51870553G>T ENST00000371497.5 + 2 1443 c.556G>T c.(556-558)Gtc>Ttc p.V186F TSHZ2_ENST00000603338.2_Missense_Mutation_p.V183F|TSHZ2_ENST00000329613.6_Missense_Mutation_p.V183F NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 186 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TTCTCGGTCCGTCTCGAAACC 0.557000 13 60 9.05144e-12 1.37077e-11 0.001855 1 0 MAST3 23031 broad.mit.edu 37 19 18235560 18235560 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:18235560G>T ENST00000262811.5 + 10 967 c.967G>T c.(967-969)Ggc>Tgc p.G323C NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 323 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 TGGGCAGCTGGGCCTGGCCAA 0.617000 9 23 0.00829132 0.00886847 0.008291 1 0 IGLON5 402665 broad.mit.edu 37 19 51826942 51826942 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:51826942G>T ENST00000270642.8 + 3 185 c.185G>T c.(184-186)cGc>cTc p.R62L NM_001101372.1 NP_001094842.1 A6NGN9 IGLO5_HUMAN IgLON family member 5 62 Ig-like C2-type 1. extracellular region large_intestine(5)|lung(6)|prostate(1) 12 CACGTGACCCGCGTGGCCTGG 0.647000 12 34 7.03913e-09 9.70383e-09 0.001368 1 0 HIVEP1 3096 broad.mit.edu 37 6 12124237 12124237 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:12124237A>T ENST00000379388.2 + 4 4541 c.4209A>T c.(4207-4209)gaA>gaT p.E1403D NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1403 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) CACTTACTGAATTGCAGCCTC 0.478000 4 105 0 0 0.000602 0 0 DIDO1 11083 broad.mit.edu 37 20 61513243 61513243 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr20:61513243C>A ENST00000266070.4 - 16 4390 c.4065G>T c.(4063-4065)ccG>ccT p.P1355P DIDO1_ENST00000395343.1_Silent_p.P1355P NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1355 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) ACGGAGGTGCCGGCACCCCGT 0.587000 50 120 1.47857e-17 2.54509e-17 0.003610 1 0 GGA3 23163 broad.mit.edu 37 17 73240717 73240717 + Missense_Mutation SNP T T G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:73240717T>G ENST00000245541.6 - 4 499 c.283A>C c.(283-285)Aaa>Caa p.K95Q GGA3_ENST00000537686.1_Missense_Mutation_p.K95Q|GGA3_ENST00000582717.1_Missense_Mutation_p.K23Q|GGA3_ENST00000582486.1_Missense_Mutation_p.K23Q|GGA3_ENST00000351904.7_Intron|GGA3_ENST00000578348.1_Intron|GGA3_ENST00000538886.1_Intron|GGA3_ENST00000579743.1_5'UTR NM_138619.2 NP_619525.1 Q9NZ52 GGA3_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 3 95 Binds to ARF1 (in long isoform).|VHS. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 20 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) GAGACGACTTTGATTAACTCA 0.488000 69 187 0 0 0.003610 0 0 FGA 2243 broad.mit.edu 37 4 155508744 155508744 + Nonsense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:155508744T>A ENST00000302053.3 - 4 508 c.430A>T c.(430-432)Aaa>Taa p.K144* FGA_ENST00000403106.3_Nonsense_Mutation_p.K144* NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 144 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TCTATGACTTTGCGCTTCAGG 0.418000 16 42 0 0 0.004990 0 0 SH2D1A 4068 broad.mit.edu 37 X 123480538 123480538 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:123480538G>T ENST00000371139.4 + 1 345 c.46G>T c.(46-48)Ggc>Tgc p.G16C SH2D1A_ENST00000360027.4_Missense_Mutation_p.G16C|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000470647.1_3'UTR NM_001114937.2|NM_002351.4 NP_001108409.1|NP_002342.1 O60880 SH21A_HUMAN SH2 domain containing 1A 16 SH2. G -> D (in XLP1; abolishes interaction with SLAMF1). cell-cell signaling|cellular defense response cytoplasm SH3/SH2 adaptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 CAGGGAAACCGGCGAGAAGCT 0.592000 22 61 1.87028e-06 2.33785e-06 0.012319 1 0 ZNF257 113835 broad.mit.edu 37 19 22271202 22271202 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:22271202C>A ENST00000594947.1 + 4 794 c.650C>A c.(649-651)aCt>aAt p.T217N ZNF257_ENST00000600162.1_3'UTR NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 217 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T217N(1) haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) TCAGCTCTTACTCGACATAAG 0.388000 10 45 9.70103e-10 1.39217e-09 0.008291 1 0 LRP1B 53353 broad.mit.edu 37 2 142238100 142238100 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:142238100G>T ENST00000389484.3 - 3 1179 c.208C>A c.(208-210)Ccc>Acc p.P70T NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 70 LDL-receptor class A 1. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACCTCCTCGGGACCTGAAAAG 0.373000 TSP Lung(27;0.18) 7 22 2.7689e-08 3.75141e-08 0.001984 1 0 NAGK 55577 broad.mit.edu 37 2 71300684 71300684 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:71300684A>G ENST00000418807.3 + 5 550 c.386A>G c.(385-387)gAt>gGt p.D129G NAGK_ENST00000244204.5_Missense_Mutation_p.D180G|NAGK_ENST00000455662.2_Missense_Mutation_p.D226G Q9UJ70 NAGK_HUMAN N-acetylglucosamine kinase 180 Substrate binding. 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) GCTCCTCATGATATCGGCTAC 0.522000 75 254 0 0 0.003610 0 0 SLC6A1 6529 broad.mit.edu 37 3 11067189 11067189 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:11067189C>A ENST00000287766.4 + 8 1190 c.769C>A c.(769-771)Cgt>Agt p.R257S SLC6A1_ENST00000536032.1_Missense_Mutation_p.R79S NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 257 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) CCTGTTCTTCCGTGGAGTGAC 0.587000 8 40 0.000442599 0.000497037 0.006214 1 0 UNC5C 8633 broad.mit.edu 37 4 96106324 96106324 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:96106324C>T ENST00000453304.1 - 13 2508 c.2160G>A c.(2158-2160)caG>caA p.Q720Q NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 720 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GTCCTCCCATCTGTCTCTCAA 0.443000 15 72 0 0 0.004007 0 0 NIPAL3 57185 broad.mit.edu 37 1 24768625 24768625 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:24768625C>T ENST00000358028.4 + 4 592 c.243C>T c.(241-243)ttC>ttT p.F81F NIPAL3_ENST00000339255.2_Silent_p.F81F|NIPAL3_ENST00000374399.4_Silent_p.F81F|NIPAL3_ENST00000003912.3_5'UTR|NIPAL3_ENST00000428131.1_Silent_p.F81F Q6P499 NPAL3_HUMAN NIPA-like domain containing 3 81 integral to membrane endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1) 14 TGGGCCTGTTCCTGATGCTTC 0.572000 32 80 0 0 0.004289 0 0 OR6Q1 219952 broad.mit.edu 37 11 57798435 57798435 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:57798435A>T ENST00000302622.3 + 1 34 c.11A>T c.(10-12)tAt>tTt p.Y4F OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) ATGCAACCATATACCAAAAAC 0.448000 35 113 0 0 0.003271 0 0 ZAN 7455 broad.mit.edu 37 7 100361433 100361433 + RNA SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:100361433C>G ENST00000542585.1 + 0 4139 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TTGCAGGTGTCAGAAGTACCA 0.597000 6 117 0 0 0.001984 0 0 TNNT3 7140 broad.mit.edu 37 11 1955808 1955808 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:1955808C>A ENST00000381558.1 + 12 768 c.489C>A c.(487-489)gcC>gcA p.A163A TNNT3_ENST00000397301.1_Silent_p.A182A|TNNT3_ENST00000381561.4_Silent_p.A174A|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381549.3_Silent_p.A163A|TNNT3_ENST00000381579.3_Silent_p.A163A|TNNT3_ENST00000381548.3_Silent_p.A173A|TNNT3_ENST00000381589.3_Silent_p.A169A|TNNT3_ENST00000360603.3_Silent_p.A165A|TNNT3_ENST00000278317.6_Silent_p.A171A|TNNT3_ENST00000397304.2_Silent_p.A152A|TNNT3_ENST00000446240.1_Silent_p.A152A P45378 TNNT3_HUMAN troponin T type 3 (skeletal, fast) 182 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1) 19 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) AGCAGACAGCCCGGGAAATGA 0.587000 6 11 0.00116845 0.00128468 0.001168 1 0 APOL3 80833 broad.mit.edu 37 22 36537770 36537770 + Silent SNP C C A rs146525352 byFrequency TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr22:36537770C>A ENST00000424878.2 - 4 2235 c.87G>T c.(85-87)gcG>gcT p.A29A APOL3_ENST00000361710.2_Silent_p.A29A|APOL3_ENST00000397293.2_Silent_p.A158A|APOL3_ENST00000349314.2_Silent_p.A229A|APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000397287.2_Silent_p.A29A O95236 APOL3_HUMAN apolipoprotein L, 3 229 inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region lipid binding|lipid transporter activity|signal transducer activity endometrium(2)|large_intestine(1)|lung(1)|stomach(1) 5 TCACAGCAGACGCTGCTCCCA 0.567000 3 29 0.00909568 0.00959846 0.009096 1 0 HECW1 23072 broad.mit.edu 37 7 43447293 43447293 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:43447293T>A ENST00000395891.1 + 8 1369 c.764T>A c.(763-765)aTc>aAc p.I255N HECW1_ENST00000453890.1_Missense_Mutation_p.I255N|HECW1_ENST00000471043.1_3'UTR NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 255 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 AGATCCAAGATCATAGGCAAC 0.527000 18 35 0 0 0.002299 0 0 OPLAH 26873 broad.mit.edu 37 8 145108265 145108265 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:145108265C>A ENST00000426825.1 - 20 2799 c.2718G>T c.(2716-2718)aaG>aaT p.K906N OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 906 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) AGTTGGGGACCTTGCCTGGCG 0.657000 14 64 6.31663e-08 8.41327e-08 0.003163 1 0 CSMD3 114788 broad.mit.edu 37 8 113253949 113253949 + Splice_Site SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:113253949C>A ENST00000297405.5 - 66 10712 c.10468_splice c.e66+1 p.V3490_splice CSMD3_ENST00000352409.3_Splice_Site_p.V3420_splice|CSMD3_ENST00000455883.2_Splice_Site_p.V3321_splice|CSMD3_ENST00000343508.3_Splice_Site_p.V3450_splice NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3490 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CATTACTAACCACTTAGCTTT 0.313000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 36 87 2.59497e-14 4.21348e-14 0.007835 1 0 PRRC2A 7916 broad.mit.edu 37 6 31600360 31600360 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:31600360G>T ENST00000376033.2 + 16 4144 c.3910G>T c.(3910-3912)Gcc>Tcc p.A1304S PRRC2A_ENST00000376007.4_Missense_Mutation_p.A1304S NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 1304 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CCGGGCAGCTGCCAAGTCTCC 0.607000 24 127 6.21321e-17 1.06079e-16 0.002780 1 0 OR51A4 401666 broad.mit.edu 37 11 4968008 4968008 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:4968008C>A ENST00000380373.2 - 1 348 c.323G>T c.(322-324)gGa>gTa p.G108V MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TACTGAGAATCCATGAATGAA 0.443000 35 336 3.03874e-20 5.549e-20 0.003271 1 0 ZNF275 10838 broad.mit.edu 37 X 152613149 152613149 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:152613149C>A ENST00000421401.3 + 4 1183 c.1006C>A c.(1006-1008)Ctc>Atc p.L336I ZNF275_ENST00000370249.2_Missense_Mutation_p.L283I|ZNF275_ENST00000440091.1_Missense_Mutation_p.L366I|ZNF275_ENST00000370251.2_Intron NM_001080485.3 NP_001073954.3 A6NFS0 A6NFS0_HUMAN zinc finger protein 275 252 intracellular nucleic acid binding|zinc ion binding endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GAGCTCCAGCCTCCTGGAGCA 0.692000 4 37 0.00909568 0.00959846 0.009096 1 0 SOX9 6662 broad.mit.edu 37 17 70117637 70117637 + Nonsense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:70117637C>A ENST00000245479.2 + 1 477 c.105C>A c.(103-105)tgC>tgA p.C35* NM_000346.3 NP_000337.1 P48436 SOX9_HUMAN SRY (sex determining region Y)-box 9 35 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2) 26 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) GCTCGCCCTGCCCGTCGGGCT 0.672000 4 16 0.00909568 0.00959846 0.009096 1 0 MAOB 4129 broad.mit.edu 37 X 43662545 43662545 + Splice_Site SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:43662545A>T ENST00000378069.4 - 4 532 c.e4+1 MAOB_ENST00000536181.1_Splice_Site|MAOB_ENST00000538942.1_Splice_Site|MAOB_ENST00000487544.1_Splice_Site NM_000898.4 NP_000889.3 P27338 AOFB_HUMAN monoamine oxidase B xenobiotic metabolic process integral to membrane|mitochondrial outer membrane electron carrier activity|primary amine oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5) 21 Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752) AAGAAGCTTTACCTCTCGCCC 0.378000 4 45 0 0 0.009096 0 0 TRBV7-8 28590 broad.mit.edu 37 7 142099521 142099521 + RNA SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:142099521G>A ENST00000390359.3 - 0 319 CTTCAGAGTGGAGACGGATCC 0.547000 7 86 0 0 0.001984 0 0 CACNA1E 777 broad.mit.edu 37 1 181479632 181479632 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:181479632C>A ENST00000526775.1 + 2 451 c.286C>A c.(286-288)Ctg>Atg p.L96M CACNA1E_ENST00000367573.2_Missense_Mutation_p.L96M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.L96M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L96M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L47M|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L47M NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 96 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GTACATGATCCTGGCCACCAT 0.537000 5 37 0.000602214 0.000670309 0.000602 1 0 PYHIN1 149628 broad.mit.edu 37 1 158913591 158913591 + Silent SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:158913591T>C ENST00000368140.1 + 6 1259 c.1014T>C c.(1012-1014)aaT>aaC p.N338N PYHIN1_ENST00000392252.3_Silent_p.N329N|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Silent_p.N329N|PYHIN1_ENST00000392254.2_Silent_p.N338N NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 338 HIN-200. cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) AAATTGTAAATAGGAAGACGA 0.343000 11 23 0 0 0.010729 0 0 CSMD1 64478 broad.mit.edu 37 8 3443742 3443742 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:3443742C>A ENST00000602557.1 - 10 1696 c.1141G>T c.(1141-1143)Gtg>Ttg p.V381L CSMD1_ENST00000537824.1_Missense_Mutation_p.V380L|CSMD1_ENST00000542608.1_Missense_Mutation_p.V380L|CSMD1_ENST00000520002.1_Missense_Mutation_p.V381L|CSMD1_ENST00000400186.3_Missense_Mutation_p.V381L|CSMD1_ENST00000539096.1_Missense_Mutation_p.V380L|CSMD1_ENST00000602723.1_Missense_Mutation_p.V381L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 381 Sushi 2. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCCTGGAGCACGTAATTGTCC 0.448000 3 12 0.004672 0.00501424 0.004672 1 0 PRKCQ 5588 broad.mit.edu 37 10 6553016 6553016 + Translation_Start_Site SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:6553016C>T ENST00000539722.1 - 0 296 PRKCQ_ENST00000397176.2_Missense_Mutation_p.V87M|PRKCQ_ENST00000263125.5_Missense_Mutation_p.V87M Q04759 KPCT_HUMAN protein kinase C, theta axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 TAGAGCTCCACGGTGGTTTCA 0.483000 21 104 0 0 0.002780 0 0 TMCC3 57458 broad.mit.edu 37 12 94976286 94976286 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:94976286C>T ENST00000261226.4 - 2 238 c.107G>A c.(106-108)aGc>aAc p.S36N TMCC3_ENST00000551457.1_Missense_Mutation_p.S5N NM_020698.2 NP_065749.2 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 36 integral to membrane NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 29 CAGGGGCAGGCTTAAGGTATT 0.458000 12 59 0 0 0.001855 0 0 MLLT3 4300 broad.mit.edu 37 9 20414373 20414373 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:20414373G>A ENST00000380338.4 - 5 757 c.471C>T c.(469-471)agC>agT p.S157S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 157 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S157S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.527000 T MLL ALL 4 56 0 0 0.009096 0 0 NLRP5 126206 broad.mit.edu 37 19 56538692 56538692 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:56538692G>A ENST00000390649.3 + 7 1093 c.1093G>A c.(1093-1095)Gat>Aat p.D365N NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 365 NACHT. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TGACGGTTTCGATGACCTGGG 0.547000 4 21 0 0 0.009096 0 0 TSPAN31 6302 broad.mit.edu 37 12 58139966 58139966 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:58139966T>A ENST00000257910.3 + 3 513 c.239T>A c.(238-240)aTc>aAc p.I80N TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000547472.1_Intron|TSPAN31_ENST00000547992.1_Intron NM_005981.3 NP_005972.1 Q12999 TSN31_HUMAN tetraspanin 31 80 positive regulation of cell proliferation integral to plasma membrane|membrane fraction endometrium(1)|kidney(1)|lung(5) 7 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) CAGTACATGATCATCCTTGGT 0.373000 9 55 0 0 0.001368 0 0 MUC5B 727897 broad.mit.edu 37 11 1272071 1272071 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:1272071C>A ENST00000447027.1 + 31 14028 c.13970C>A c.(13969-13971)aCc>aAc p.T4657N MUC5B_ENST00000529681.1_Missense_Mutation_p.T4654N Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4654 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) gtgctgaccaccaccaccaca 0.617000 7 42 8.12818e-05 9.34445e-05 0.001984 1 0 COL6A3 1293 broad.mit.edu 37 2 238275811 238275811 + Silent SNP G G T rs140516220 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:238275811G>T ENST00000295550.4 - 11 5471 c.5019C>A c.(5017-5019)ggC>ggA p.G1673G COL6A3_ENST00000347401.3_Silent_p.G1472G|COL6A3_ENST00000346358.4_Silent_p.G1473G|COL6A3_ENST00000472056.1_Silent_p.G1066G|COL6A3_ENST00000353578.4_Silent_p.G1467G|COL6A3_ENST00000409809.1_Silent_p.G1467G NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1673 Nonhelical region.|VWFA 9. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGATGGAGTCGCCATCTTCAT 0.473000 9 25 2.17888e-05 2.58025e-05 0.006214 1 0 USH2A 7399 broad.mit.edu 37 1 216420067 216420067 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:216420067G>T ENST00000366943.2 - 13 3055 c.2669C>A c.(2668-2670)aCc>aAc p.T890N USH2A_ENST00000366942.3_Missense_Mutation_p.T890N|USH2A_ENST00000307340.3_Missense_Mutation_p.T890N O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 890 Laminin EGF-like 7. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATTGTCAATGGTCAAATTGTA 0.473000 HNSCC(13;0.011) 22 198 8.04996e-18 1.3971e-17 0.012319 1 0 REG1B 5968 broad.mit.edu 37 2 79314699 79314699 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:79314699G>T ENST00000305089.3 - 2 120 c.40C>A c.(40-42)Ctg>Atg p.L14M NM_006507.3 NP_006498.1 P48304 REG1B_HUMAN regenerating islet-derived 1 beta 14 cell proliferation extracellular region sugar binding central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 51 AGGAACATCAGGGAGGAGATC 0.483000 6 21 0.00116845 0.00128468 0.001168 1 0 WDHD1 11169 broad.mit.edu 37 14 55411173 55411173 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr14:55411173G>A ENST00000360586.3 - 25 3131 c.3066C>T c.(3064-3066)ttC>ttT p.F1022F WDHD1_ENST00000420358.2_Silent_p.F899F|WDHD1_ENST00000421192.1_Silent_p.F899F|WDHD1_ENST00000359167.4_Silent_p.F540F NM_007086.3 NP_009017.1 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 1022 cytoplasm|nucleoplasm DNA binding breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2) 42 ACCACATCTGGAACCCGGTCT 0.318000 12 32 0 0 0.001368 0 0 BRCA1 672 broad.mit.edu 37 17 41234512 41234512 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:41234512C>A ENST00000309486.4 - 11 4405 c.3378G>T c.(3376-3378)ggG>ggT p.G1126G BRCA1_ENST00000491747.2_Silent_p.G319G|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000357654.3_Silent_p.G1422G|BRCA1_ENST00000352993.3_Silent_p.G280G|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000493795.1_Silent_p.G1375G|BRCA1_ENST00000351666.3_Silent_p.G239G|BRCA1_ENST00000354071.3_Silent_p.G1422G|BRCA1_ENST00000346315.3_Silent_p.G1422G|BRCA1_ENST00000471181.2_Silent_p.G1422G|BRCA1_ENST00000468300.1_Silent_p.G319G|BRCA1_ENST00000591849.1_Intron NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 1422 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) AAGGCTGGCTCCCATGCTGTT 0.453000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 26 69 2.79863e-10 4.08134e-10 0.004656 1 0 FLT1 2321 broad.mit.edu 37 13 28882994 28882994 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr13:28882994T>A ENST00000282397.4 - 28 3957 c.3706A>T c.(3706-3708)Acc>Tcc p.T1236S FLT1_ENST00000540678.1_Missense_Mutation_p.T454S|FLT1_ENST00000543394.1_Missense_Mutation_p.T259S NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 1236 cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) AACATGGAGGTGGCATTCGGT 0.403000 5 17 0 0 0.001168 0 0 KIAA0355 9710 broad.mit.edu 37 19 34818678 34818678 + Silent SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:34818678A>T ENST00000299505.6 + 5 1722 c.849A>T c.(847-849)gcA>gcT p.A283A NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 283 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) ATTTCCAGGCATATAAGATAG 0.338000 14 34 0 0 0.003163 0 0 ZNF667 63934 broad.mit.edu 37 19 56953937 56953937 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:56953937G>T ENST00000504904.3 - 7 1146 c.427C>A c.(427-429)Cct>Act p.P143T ZNF667_ENST00000342634.3_Missense_Mutation_p.P271T|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.P143T Q5HYK9 ZN667_HUMAN zinc finger protein 667 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) CATTTTAAAGGTTTCTTCCCT 0.378000 9 103 3.09899e-07 3.98441e-07 0.004482 1 0 GLS2 27165 broad.mit.edu 37 12 56867050 56867050 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:56867050G>T ENST00000311966.4 - 14 1689 c.1411C>A c.(1411-1413)Cgg>Agg p.R471R NM_013267.2 NP_037399.2 Q9UI32 GLSL_HUMAN glutaminase 2 (liver, mitochondrial) 471 cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding p.R471W(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TCTAACTTCCGAGCACAGTGC 0.453000 3 57 0.00909568 0.00959846 0.009096 1 0 DYDC1 143241 broad.mit.edu 37 10 82111703 82111703 + Missense_Mutation SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:82111703T>C ENST00000421924.2 - 3 614 c.203A>G c.(202-204)cAg>cGg p.Q68R DYDC1_ENST00000372202.1_Missense_Mutation_p.Q68R|DYDC1_ENST00000372204.3_Missense_Mutation_p.Q68R|DYDC2_ENST00000372198.1_Intron|DYDC2_ENST00000372199.1_Intron|DYDC2_ENST00000372197.1_Intron Q8WWB3 DYDC1_HUMAN DPY30 domain containing 1 68 kidney(1)|large_intestine(3)|skin(1) 5 Colorectal(32;0.229) CATCATTTCCTGCTCCATCAG 0.468000 31 96 0 0 0.005524 0 0 CNKSR2 22866 broad.mit.edu 37 X 21444616 21444616 + Splice_Site SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:21444616T>C ENST00000425654.2 + 2 546 c.64_splice c.e2-1 p.G22_splice CNKSR2_ENST00000279451.4_Splice_Site_p.G22_splice|CNKSR2_ENST00000543067.1_Splice_Site_p.G22_splice|CNKSR2_ENST00000379510.3_Splice_Site_p.G22_splice NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 22 SAM. regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 ATTTTGTAGGTCTTGATGACT 0.413000 4 40 0 0 0.009096 0 0 CST3 1471 broad.mit.edu 37 20 23614635 23614635 + Splice_Site SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr20:23614635T>A ENST00000398411.1 - 3 441 c.357_splice c.e3-1 p.K120_splice CST3_ENST00000376925.3_Splice_Site_p.K120_splice|CST3_ENST00000398409.1_Splice_Site_p.K120_splice P01034 CYTC_HUMAN cystatin C 120 defense response|fibril organization|negative regulation of blood vessel remodeling|negative regulation of collagen catabolic process|negative regulation of elastin catabolic process|negative regulation of extracellular matrix disassembly extracellular space beta-amyloid binding|cysteine-type endopeptidase inhibitor activity|protease binding large_intestine(2)|lung(1)|ovary(1) 4 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) GCAGAATGCTTTCTGTGAAAG 0.537000 16 53 0 0 0.004007 0 0 KIAA1377 57562 broad.mit.edu 37 11 101833442 101833442 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:101833442A>G ENST00000263468.8 + 6 1946 c.1676A>G c.(1675-1677)cAt>cGt p.H559R KIAA1377_ENST00000537689.1_Missense_Mutation_p.H360R NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 559 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) GTTGGCCAGCATAAGAAAATG 0.294000 10 26 0 0 0.006214 0 0 F13B 2165 broad.mit.edu 37 1 197026449 197026449 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:197026449C>T ENST00000367412.1 - 6 995 c.952G>A c.(952-954)Gat>Aat p.D318N NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 318 Sushi 5. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 CATTTTCCATCTTCACAACGT 0.358000 12 92 0 0 0.010729 0 0 PCDH11X 27328 broad.mit.edu 37 X 91873704 91873704 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:91873704G>C ENST00000373094.1 + 7 4654 c.3809G>C c.(3808-3810)aGt>aCt p.S1270T PCDH11X_ENST00000373097.1_Missense_Mutation_p.S1260T|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S1262T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S1252T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S1233T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S1233T NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1270 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CTCCATCGTAGTCAGGCCCAA 0.552000 34 182 0 0 0.003755 0 0 NPY2R 4887 broad.mit.edu 37 4 156135828 156135828 + Nonsense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:156135828T>A ENST00000329476.3 + 2 1226 c.737T>A c.(736-738)tTg>tAg p.L246* NPY2R_ENST00000506608.1_Nonsense_Mutation_p.L246* NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 246 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) TGGAGTAAATTGAAGAACCAT 0.443000 14 57 0 0 0.001855 0 0 GLMN 11146 broad.mit.edu 37 1 92733549 92733549 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:92733549T>A ENST00000370360.3 - 11 1100 c.1019A>T c.(1018-1020)gAg>gTg p.E340V GLMN_ENST00000534881.1_Missense_Mutation_p.E340V NM_053274.2 NP_444504.1 Q92990 GLMN_HUMAN glomulin, FKBP associated protein 340 muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis intracellular hepatocyte growth factor receptor binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 17 all_lung(203;0.00827)|Lung NSC(277;0.0295) all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989) TAAACTATTCTCCAGCAGCTC 0.294000 Multiple Glomus Tumors (of the Skin), Familial 15 67 0 0 0.002450 0 0 LPPR4 9890 broad.mit.edu 37 1 99771914 99771914 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:99771914C>A ENST00000370185.3 + 7 2137 c.1640C>A c.(1639-1641)tCc>tAc p.S547Y LPPR4_ENST00000457765.1_Missense_Mutation_p.S489Y|LPPR4_ENST00000370184.1_Missense_Mutation_p.S389Y NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 547 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) ATAAGCACCTCCCCCAAAAGC 0.537000 42 104 1.57019e-19 2.8183e-19 0.007835 1 0 GPR141 353345 broad.mit.edu 37 7 37780847 37780847 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:37780847C>T ENST00000447769.1 + 4 1141 c.852C>T c.(850-852)gtC>gtT p.V284V GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Silent_p.V284V Q7Z602 GP141_HUMAN G protein-coupled receptor 141 284 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TTCTCTTTGTCTTTGGGGGAA 0.378000 18 59 0 0 0.004990 0 0 NTRK2 4915 broad.mit.edu 37 9 87570366 87570366 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:87570366G>C ENST00000376214.1 + 19 3044 c.2106G>C c.(2104-2106)gaG>gaC p.E702D NTRK2_ENST00000277120.3_Missense_Mutation_p.E702D|NTRK2_ENST00000323115.4_Missense_Mutation_p.E686D|NTRK2_ENST00000376213.1_Missense_Mutation_p.E686D NM_006180.3 NP_006171.2 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 686 Protein kinase. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 TGGTCGGGGAGAACTTGCTGG 0.597000 TSP Lung(25;0.17) 6 34 0 0 0.003080 0 0 PRKACB 5567 broad.mit.edu 37 1 84679969 84679969 + Missense_Mutation SNP C C T rs143624941 byFrequency TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:84679969C>T ENST00000370689.2 + 9 1163 c.899C>T c.(898-900)aCg>aTg p.T300M PRKACB_ENST00000394838.2_Missense_Mutation_p.T307M|PRKACB_ENST00000370682.3_Missense_Mutation_p.T304M|PRKACB_ENST00000394839.2_Missense_Mutation_p.T270M|PRKACB_ENST00000370685.3_Missense_Mutation_p.T347M NM_001242862.1|NM_002731.2 NP_001229791.1|NP_002722.1 P22694 KAPCB_HUMAN protein kinase, cAMP-dependent, catalytic, beta 300 AGC-kinase C-terminal. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1) 16 all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141) TGGTTTGCCACGACAGATTGG 0.363000 4 24 0 0 0.000602 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121651931 121651931 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:121651931A>G ENST00000393386.2 + 12 3242 c.2831A>G c.(2830-2832)tAc>tGc p.Y944C PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 944 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 ACTGTTTCTTACAGTTCTGCA 0.453000 32 89 0 0 0.012213 0 0 RYR2 6262 broad.mit.edu 37 1 237947313 237947313 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:237947313C>A ENST00000366574.2 + 90 12618 c.12301C>A c.(12301-12303)Ctt>Att p.L4101I RYR2_ENST00000360064.6_Missense_Mutation_p.L4107I|RYR2_ENST00000542537.1_Missense_Mutation_p.L4085I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4101 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CGTCGCCGTCCTTCTGACAAA 0.517000 19 22 2.94398e-08 3.98006e-08 0.007413 1 0 DCHS1 8642 broad.mit.edu 37 11 6662271 6662271 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:6662271G>T ENST00000299441.3 - 2 985 c.574C>A c.(574-576)Cgg>Agg p.R192R NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 192 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTCTCCAGCCGGAAGGTCTCT 0.607000 37 80 8.73648e-17 1.48756e-16 0.004289 1 0 ZP4 57829 broad.mit.edu 37 1 238049109 238049109 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:238049109G>C ENST00000366570.4 - 7 1075 c.917C>G c.(916-918)cCc>cGc p.P306R RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 306 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) CTCAGGAAAGGGTGGTGGGAG 0.502000 42 38 0 0 0.006999 0 0 KRTAP5-11 440051 broad.mit.edu 37 11 71293801 71293801 + Missense_Mutation SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:71293801C>G ENST00000398530.1 - 1 120 c.83G>C c.(82-84)tGt>tCt p.C28S KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron NM_001005405.2 NP_001005405.1 Q6L8G4 KR511_HUMAN keratin associated protein 5-11 28 keratin filament endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 ACAGCCCCCACAGCCAGAGCC 0.647000 5 142 0 0 0.000602 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627644 43627644 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:43627644C>A ENST00000332857.6 - 4 1071 c.1043G>T c.(1042-1044)gGa>gTa p.G348V NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 TGTAAATGATCCAACATTTTC 0.428000 104 72 4.64599e-62 9.1468e-62 0.003610 1 0 DPEP3 64180 broad.mit.edu 37 16 68014139 68014139 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr16:68014139G>A ENST00000268793.4 - 1 593 c.220C>T c.(220-222)Ctg>Ttg p.L74L DPEP3_ENST00000574342.1_5'UTR NM_001129758.1|NM_022357.3 NP_001123230.1|NP_071752.3 Q9H4B8 DPEP3_HUMAN dipeptidase 3 49 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) GGGGAGCCCAGCGTGGAGAGG 0.711000 10 12 0 0 0.008291 0 0 MAST4 375449 broad.mit.edu 37 5 66426037 66426037 + Splice_Site SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:66426037G>T ENST00000404260.3 + 15 2062 c.e15-1 MAST4_ENST00000403666.1_Splice_Site|MAST4_ENST00000403625.2_Splice_Site|MAST4_ENST00000261569.7_Splice_Site|MAST4_ENST00000405643.1_Splice_Site O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) CTCCTTTTCAGGGCAGTCTAC 0.418000 3 9 0.004672 0.00501424 0.004672 1 0 ADAD1 132612 broad.mit.edu 37 4 123317427 123317427 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:123317427G>T ENST00000296513.2 + 7 804 c.619G>T c.(619-621)Gca>Tca p.A207S ADAD1_ENST00000388724.2_Missense_Mutation_p.A207S|ADAD1_ENST00000388725.2_Missense_Mutation_p.A189S|ADAD1_ENST00000492454.1_3'UTR NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 207 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TATTCAATATGCAAAGATTTC 0.294000 5 23 5.9392e-07 7.62056e-07 0.001168 1 0 GLRA3 8001 broad.mit.edu 37 4 175604028 175604028 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:175604028C>T ENST00000274093.3 - 6 1139 c.637G>A c.(637-639)Gaa>Aaa p.E213K GLRA3_ENST00000340217.5_Missense_Mutation_p.E213K NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 213 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) GTGAGTCCTTCTGCCACTTGT 0.368000 5 34 0 0 0.000602 0 0 ACO2 50 broad.mit.edu 37 22 41895792 41895792 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr22:41895792G>T ENST00000396512.3 + 2 116 c.99G>T c.(97-99)gcG>gcT p.A33A ACO2_ENST00000216254.4_Silent_p.A33A Q99798 ACON_HUMAN aconitase 2, mitochondrial 33 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 23 CCAAGGTGGCGATGAGCCACT 0.522000 49 255 2.64894e-19 4.71422e-19 0.003610 1 0 CHD2 1106 broad.mit.edu 37 15 93558024 93558024 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:93558024C>T ENST00000394196.4 + 37 5859 c.4791C>T c.(4789-4791)acC>acT p.T1597T CHD2_ENST00000557381.1_Silent_p.T1597T NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1597 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AGTCCCATACCTCACACAACC 0.527000 7 105 0 0 0.003080 0 0 OR52N4 390072 broad.mit.edu 37 11 5776415 5776415 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:5776415G>C ENST00000317254.3 + 1 493 c.445G>C c.(445-447)Gcc>Ccc p.A149P TRIM5_ENST00000380027.1_Intron NM_001005175.2 NP_001005175.3 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene) 149 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) GGTTGGGACTGCCACCTTCCT 0.488000 46 107 0 0 0.009718 0 0 JADE3 9767 broad.mit.edu 37 X 46917891 46917891 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:46917891G>T ENST00000218343.4 + 11 2182 c.1884G>T c.(1882-1884)tcG>tcT p.S628S PHF16_ENST00000397189.1_Silent_p.S628S NM_014735.3 NP_055550.1 Q92613 JADE3_HUMAN 628 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 CCCCGTCCTCGGAGTGCTATC 0.537000 9 62 1.76689e-08 2.4042e-08 0.006214 1 0 COL11A1 1301 broad.mit.edu 37 1 103449739 103449739 + Silent SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:103449739A>T ENST00000358392.2 - 31 2864 c.2547T>A c.(2545-2547)ctT>ctA p.L849L COL11A1_ENST00000512756.1_Silent_p.L721L|COL11A1_ENST00000370096.3_Silent_p.L837L|COL11A1_ENST00000353414.4_Silent_p.L798L NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 837 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTGGAACTCCAAGTTTTCCCT 0.254000 7 8 0 0 0.001984 0 0 HTR1F 3355 broad.mit.edu 37 3 88040418 88040418 + Missense_Mutation SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:88040418C>G ENST00000319595.4 + 1 573 c.519C>G c.(517-519)atC>atG p.I173M NM_000866.3 NP_000857.1 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 173 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) ATGAATGCATCATCAAGCACG 0.378000 7 42 0 0 0.001984 0 0 FRG1B 284802 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 4 60 0 0 0.006214 0 0 KRT37 8688 broad.mit.edu 37 17 39579095 39579095 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:39579095C>A ENST00000225550.3 - 3 666 c.667G>T c.(667-669)Gac>Tac p.D223Y AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 223 Coil 1B.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) GCCTCCAGGTCGGCCTTGGCC 0.662000 17 55 4.7546e-09 6.64169e-09 0.004007 1 0 SYT7 9066 broad.mit.edu 37 11 61295448 61295448 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:61295448C>T ENST00000263846.4 - 5 888 c.561G>A c.(559-561)ctG>ctA p.L187L SYT7_ENST00000542836.1_Silent_p.L231L|SYT7_ENST00000542670.1_Silent_p.L395L|SYT7_ENST00000540677.1_Silent_p.L262L|SYT7_ENST00000539008.1_Silent_p.L470L|SYT7_ENST00000535826.1_Silent_p.L306L|SYT7_ENST00000540831.1_5'UTR NM_004200.3 NP_004191.2 O43581 SYT7_HUMAN synaptotagmin VII 187 C2 1. cell junction|integral to membrane|synaptic vesicle membrane transporter activity kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CCTTGGTCTCCAGCTTGTGCT 0.582000 9 91 0 0 0.004482 0 0 CLVS2 134829 broad.mit.edu 37 6 123332140 123332140 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:123332140G>A ENST00000275162.4 + 3 1735 c.400G>A c.(400-402)Gtg>Atg p.V134M CLVS2_ENST00000368438.1_5'UTR NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 134 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 GTACACACTGGTGGATATTTT 0.363000 27 50 0 0 0.007291 0 0 ZNF28 7576 broad.mit.edu 37 19 53304938 53304938 + Missense_Mutation SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:53304938T>C ENST00000457749.2 - 4 279 c.160A>G c.(160-162)Atg>Gtg p.M54V ZNF28_ENST00000594602.1_Missense_Mutation_p.H93R|ZNF28_ENST00000360272.4_Start_Codon_SNP_p.M1V|ZNF28_ENST00000438150.2_Start_Codon_SNP_p.M1V|ZNF28_ENST00000414252.2_Start_Codon_SNP_p.M1V|ZNF28_ENST00000339844.6_Intron NM_006969.3 NP_008900.3 P17035 ZNF28_HUMAN zinc finger protein 28 54 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) GTCTTCATCATGCATTTGGAA 0.363000 56 68 0 0 0.003610 0 0 FOXB2 442425 broad.mit.edu 37 9 79635314 79635314 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:79635314G>T ENST00000376708.1 + 1 744 c.744G>T c.(742-744)ggG>ggT p.G248G NM_001013735.1 NP_001013757.1 Q5VYV0 FOXB2_HUMAN forkhead box B2 248 brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|lung(8)|ovary(1) 10 CACCCTACGGGCTGGGCTCGg 0.736000 15 16 7.93312e-07 1.00967e-06 0.002450 1 0 RPAP1 26015 broad.mit.edu 37 15 41820068 41820068 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:41820068G>A ENST00000304330.4 - 11 1534 c.1418C>T c.(1417-1419)cCt>cTt p.P473L RPAP1_ENST00000561603.1_Missense_Mutation_p.P473L NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 473 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) CTCATCTCCAGGAGCCACCAG 0.582000 4 49 0 0 0.000602 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105361457 105361457 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:105361457G>T ENST00000297581.2 + 2 726 c.677G>T c.(676-678)gGc>gTc p.G226V DCSTAMP_ENST00000517991.1_Missense_Mutation_p.G226V|DPYS_ENST00000521601.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 226 osteoclast differentiation cell surface|integral to membrane|plasma membrane GTCCTGCTTGGCACTGGCCTC 0.498000 20 78 1.37522e-17 2.37367e-17 0.007413 1 0 U2AF2 11338 broad.mit.edu 37 19 56180848 56180848 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:56180848G>T ENST00000450554.2 + 11 2030 c.1071G>T c.(1069-1071)ccG>ccT p.P357P CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000590551.1_Silent_p.P193P|CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000308924.4_Silent_p.P361P NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 361 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) TGCAAGTGCCGGGCTTGATGA 0.647000 4 31 0.00909568 0.00959846 0.009096 1 0 MRGPRX3 117195 broad.mit.edu 37 11 18159075 18159075 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:18159075G>T ENST00000396275.2 + 3 687 c.326G>T c.(325-327)gGc>gTc p.G109V NM_054031.3 NP_473372.3 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 109 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 TACTTTATAGGCCTAAGCATG 0.547000 35 160 3.38236e-24 6.2858e-24 0.006999 1 0 FGF16 8823 broad.mit.edu 37 X 76711990 76711990 + Silent SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:76711990A>G ENST00000439435.1 + 2 327 c.327A>G c.(325-327)ccA>ccG p.P109P O43320 FGF16_HUMAN fibroblast growth factor 16 0 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus extracellular space growth factor activity NS(1)|breast(1)|lung(2) 4 CTCCATGTCCAGAGACCTCTT 0.502000 10 79 0 0 0.008291 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212219 26212219 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:26212219G>T ENST00000379034.1 + 2 405 c.256G>T c.(256-258)Gcc>Tcc p.A86S NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 86 Ser-rich. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 CGATGTGGCTGCCAACGGCCA 0.542000 10 52 1.33987e-11 2.02426e-11 0.008291 1 0 PPP2R2B 5521 broad.mit.edu 37 5 145969781 145969781 + Missense_Mutation SNP A A C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:145969781A>C ENST00000394413.3 - 9 1631 c.1061T>G c.(1060-1062)aTg>aGg p.M354R PPP2R2B_ENST00000394411.4_Missense_Mutation_p.M354R|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.M360R|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.M343R|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.M412R|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.M354R|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.M420R|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.M343R|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.M354R|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.M357R Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 354 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGAGCCTGTCATGATGACACT 0.473000 23 35 0 0 0.002780 0 0 PCNX 22990 broad.mit.edu 37 14 71445031 71445031 + Silent SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr14:71445031A>T ENST00000304743.2 + 6 2423 c.1977A>T c.(1975-1977)acA>acT p.T659T PCNX_ENST00000439984.3_Silent_p.T659T|PCNX_ENST00000238570.5_Silent_p.T659T NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 659 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CTGAACACACACACAAAGCTC 0.493000 25 124 0 0 0.003330 0 0 OR14I1 401994 broad.mit.edu 37 1 248844746 248844746 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:248844746A>T ENST00000342623.3 - 1 883 c.860T>A c.(859-861)aTa>aAa p.I287K NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 AAGACTATATATGATGGGATT 0.388000 10 67 0 0 0.008291 0 0 KRTAP6-2 337967 broad.mit.edu 37 21 31971160 31971160 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr21:31971160C>A ENST00000334897.3 - 1 59 c.34G>T c.(34-36)Gac>Tac p.D12Y NM_181604.1 NP_853635.1 Q3LI66 KRA62_HUMAN keratin associated protein 6-2 12 intermediate filament endometrium(2)|kidney(1)|large_intestine(4)|lung(4) 11 TAGCCATGGTCGCCGTAGTAG 0.542000 102 56 3.52173e-36 6.78497e-36 0.003610 1 0 THBS2 7058 broad.mit.edu 37 6 169640673 169640673 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:169640673C>A ENST00000366787.3 - 7 1155 c.906G>T c.(904-906)caG>caT p.Q302H NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 302 cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CCCAGAGAAACTGGTTATCAT 0.433000 7 32 0.00198382 0.00215484 0.001984 1 0 CBFA2T3 863 broad.mit.edu 37 16 88945811 88945811 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr16:88945811G>C ENST00000268679.4 - 11 1925 c.1529C>G c.(1528-1530)tCg>tGg p.S510W CBFA2T3_ENST00000327483.5_Missense_Mutation_p.S424W|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.S472W|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.S424W|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.S434W NM_005187.5 NP_005178.4 O75081 MTG16_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 3 510 cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0275) CTCCGCGTCCGACACGGCTTT 0.672000 T RUNX1 AML 18 35 0 0 0.012319 0 0 FGD5 152273 broad.mit.edu 37 3 14861743 14861743 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:14861743A>T ENST00000285046.5 + 1 1275 c.1165A>T c.(1165-1167)Atg>Ttg p.M389L FGD5_ENST00000543601.1_Missense_Mutation_p.M148L NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 389 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 GGAGAACCCCATGGTGGGGGC 0.607000 9 49 0 0 0.006214 0 0 USH2A 7399 broad.mit.edu 37 1 216420066 216420066 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:216420066G>T ENST00000366943.2 - 13 3056 c.2670C>A c.(2668-2670)acC>acA p.T890T USH2A_ENST00000366942.3_Silent_p.T890T|USH2A_ENST00000307340.3_Silent_p.T890T O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 890 Laminin EGF-like 7. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AATTGTCAATGGTCAAATTGT 0.473000 HNSCC(13;0.011) 22 200 8.04996e-18 1.3971e-17 0.012319 1 0 CATSPER4 378807 broad.mit.edu 37 1 26517187 26517187 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:26517187G>T ENST00000456354.2 + 1 136 c.69G>T c.(67-69)ggG>ggT p.G23G NM_198137.1 NP_937770.1 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 23 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) GGTGGGGCGGGACTCAGGAGG 0.597000 11 33 2.27111e-07 2.96232e-07 0.001368 1 0 CDH20 28316 broad.mit.edu 37 18 59217383 59217383 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:59217383C>A ENST00000262717.4 + 11 2219 c.1821C>A c.(1819-1821)agC>agA p.S607R CDH20_ENST00000538374.1_Missense_Mutation_p.S607R|CDH20_ENST00000536675.2_Missense_Mutation_p.S607R Q9HBT6 CAD20_HUMAN cadherin 20, type 2 607 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) TGTCCTGCAGCCCAGAGGCCT 0.597000 23 42 3.62473e-10 5.23757e-10 0.012319 1 0 TYW1B 441250 broad.mit.edu 37 7 72298738 72298738 + RNA SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:72298738A>T ENST00000438125.1 - 0 15 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity GCACCGAGCTACCTCGCGGCG 0.632000 5 12 0 0 0.000602 0 0 NPC1L1 29881 broad.mit.edu 37 7 44560608 44560608 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:44560608G>A ENST00000289547.4 - 13 3118 c.3063C>T c.(3061-3063)aaC>aaT p.N1021N NPC1L1_ENST00000546276.1_Silent_p.N975N|NPC1L1_ENST00000381160.3_Silent_p.N1021N NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 1021 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) GACATTTGATGTTGGGCCGGT 0.552000 68 183 0 0 0.003610 0 0 HCFC1 3054 broad.mit.edu 37 X 153215033 153215033 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:153215033G>T ENST00000310441.7 - 25 7005 c.6039C>A c.(6037-6039)gcC>gcA p.A2013A HCFC1_ENST00000369984.4_Silent_p.A2058A|HCFC1_ENST00000354233.3_Silent_p.A1944A NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 2013 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCCGCTTGTTGGCTGGCTTGG 0.547000 12 170 0.000219431 0.000249985 0.002450 1 0 TENM3 55714 broad.mit.edu 37 4 183713454 183713454 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:183713454C>T ENST00000511685.1 + 26 5752 c.5629C>T c.(5629-5631)Cgg>Tgg p.R1877W TENM3_ENST00000406950.2_Missense_Mutation_p.R1877W teneurin transmembrane protein 3 TCATAGCCAGCGGCAGTACAT 0.498000 20 56 0 0 0.008871 0 0 CBX2 84733 broad.mit.edu 37 17 77758716 77758716 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:77758716G>T ENST00000310942.4 + 5 1578 c.1474G>T c.(1474-1476)Gac>Tac p.D492Y NM_005189.2 NP_005180.1 Q14781 CBX2_HUMAN chromobox homolog 2 492 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GACCAGCCAGGACTGGAAGCC 0.637000 18 37 2.37509e-13 3.79774e-13 0.010504 1 0 MAMDC4 158056 broad.mit.edu 37 9 139747556 139747556 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:139747556G>T ENST00000445819.1 + 2 99 c.49G>T c.(49-51)Ggg>Tgg p.G17W MAMDC4_ENST00000317446.2_Missense_Mutation_p.G17W|MAMDC4_ENST00000485732.1_Intron Q6UXC1 AEGP_HUMAN MAM domain containing 4 17 protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) CCCAGCAGCAGGGTCCTCAGG 0.622000 18 12 1.67942e-08 2.29508e-08 0.006122 1 0 NOTCH4 4855 broad.mit.edu 37 6 32180263 32180263 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:32180263C>A ENST00000375023.3 - 17 2806 c.2668G>T c.(2668-2670)Gca>Tca p.A890S NOTCH4_ENST00000465528.1_5'UTR NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 890 EGF-like 23. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 TGGCTCAGTGCAGCCTTCTGG 0.587000 109 76 4.44732e-65 8.78311e-65 0.003610 1 0 AK1 203 broad.mit.edu 37 9 130635071 130635071 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:130635071G>A ENST00000373176.1 - 4 257 c.105C>T c.(103-105)acC>acT p.T35T AK1_ENST00000373156.1_Silent_p.T35T|RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000223836.10_Silent_p.T51T NM_000476.2 NP_000467.1 P00568 KAD1_HUMAN adenylate kinase 1 35 ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion cytosol adenylate kinase activity|ATP binding|protein binding endometrium(1)|prostate(1) 2 TGGAGAGGTGGGTGTAGCCAT 0.617000 5 41 0 0 0.000602 0 0 NDUFB11 54539 broad.mit.edu 37 X 47002067 47002067 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:47002067A>T ENST00000377811.3 - 2 1108 c.284T>A c.(283-285)gTc>gAc p.V95D NDUFB11_ENST00000276062.8_Missense_Mutation_p.V95D NM_001135998.2 NP_001129470.1 Q9NX14 NDUBB_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa 95 respiratory electron transport chain|transport integral to membrane|mitochondrial respiratory chain complex I endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 7 GATGATGGAGACGCCAAAGAA 0.532000 23 67 0 0 0.003330 0 0 AADACL4 343066 broad.mit.edu 37 1 12711243 12711243 + Silent SNP C C A rs140616597 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:12711243C>A ENST00000376221.1 + 2 270 c.270C>A c.(268-270)acC>acA p.T90T NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 90 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) TTGTGGTGACCGACCTGCGTT 0.502000 27 42 2.79863e-10 4.08134e-10 0.004656 1 0 MORN1 79906 broad.mit.edu 37 1 2288985 2288985 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:2288985C>T ENST00000378531.3 - 10 1095 c.922G>A c.(922-924)Ggg>Agg p.G308R MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378529.3_Missense_Mutation_p.G308R NM_024848.1 NP_079124.1 Q5T089 MORN1_HUMAN MORN repeat containing 1 308 breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2) 9 all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212) GCTCTGGGCCCCGGCACCCCA 0.652000 32 97 0 0 0.002836 0 0 KRTAP10-10 353333 broad.mit.edu 37 21 46057497 46057497 + Missense_Mutation SNP A A G rs377408 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr21:46057497A>G ENST00000380095.1 + 1 225 c.163A>G c.(163-165)Acg>Gcg p.T55A TSPEAR_ENST00000323084.4_Intron NM_181688.1 NP_859016.1 P60014 KR10A_HUMAN keratin associated protein 10-10 55 15 X 5 AA repeats of C-C-X(3). keratin filament p.T55A(1) NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 13 CTGCTGCCAGACGGCCTGTGA 0.662000 4 128 0 0 0.000602 0 0 TDRD10 126668 broad.mit.edu 37 1 154519884 154519884 + Splice_Site SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:154519884G>C ENST00000368482.4 + 12 1790 c.e12-1 TDRD10_ENST00000479937.1_Splice_Site|TDRD10_ENST00000368480.3_Splice_Site NM_001098475.1|NM_182499.3 NP_001091945.1|NP_872305.3 Q5VZ19 TDR10_HUMAN tudor domain containing 10 nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) TTGTTTTGCAGACATTTTGAG 0.512000 10 79 0 0 0.008291 0 0 SOHLH1 402381 broad.mit.edu 37 9 138588531 138588531 + Silent SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:138588531C>G ENST00000298466.5 - 5 648 c.588G>C c.(586-588)acG>acC p.T196T SOHLH1_ENST00000425225.1_Silent_p.T196T NM_001012415.2 NP_001012415.2 Q5JUK2 SOLH1_HUMAN spermatogenesis and oogenesis specific basic helix-loop-helix 1 196 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1) 12 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) TGCCCAGGGACGTGCAGCTCG 0.667000 17 26 0 0 0.004990 0 0 ADH1A 124 broad.mit.edu 37 4 100212093 100212093 + Translation_Start_Site SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:100212093G>T ENST00000209668.2 - 0 92 RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR|RP11-696N14.1_ENST00000509939.1_RNA NM_000667.3 NP_000658.1 P07327 ADH1A_HUMAN alcohol dehydrogenase 1A (class I), alpha polypeptide ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) CTTCTCTGCAGACCAGGAGAC 0.348000 26 64 7.26314e-15 1.19161e-14 0.007291 1 0 IGFBP5 3488 broad.mit.edu 37 2 217541567 217541567 + Nonsense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:217541567C>T ENST00000233813.4 - 4 1475 c.726G>A c.(724-726)tgG>tgA p.W242* NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 242 Thyroglobulin type-1. negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction insulin-like growth factor I binding endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGTCCACGCACCAGCAGATGC 0.617000 5 129 0 0 0.001168 0 0 SERPINB9 5272 broad.mit.edu 37 6 2892184 2892184 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:2892184G>A ENST00000380698.4 - 6 695 c.606C>T c.(604-606)gcC>gcT p.A202A NM_004155.5 NP_004146.1 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 9 202 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 15 Ovarian(93;0.0412) all_hematologic(90;0.108) GCTTAAACGTGGCCTCCTGAT 0.577000 8 115 0 0 0.006214 0 0 PWWP2B 170394 broad.mit.edu 37 10 134219612 134219612 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:134219612G>T ENST00000305233.5 + 2 1667 c.1608G>T c.(1606-1608)acG>acT p.T536T PWWP2B_ENST00000368609.4_Intron NM_138499.3 NP_612508.3 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2B 536 PWWP. central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) CTCCGACTACGTCGTTCTTGT 0.498000 35 54 7.11191e-15 1.16984e-14 0.002836 1 0 TIGIT 201633 broad.mit.edu 37 3 114014612 114014612 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:114014612C>T ENST00000481065.1 + 3 3098 c.483C>T c.(481-483)acC>acT p.T161T TIGIT_ENST00000486257.1_Silent_p.T94T|TIGIT_ENST00000383671.3_Silent_p.T94T Q495A1 TIGIT_HUMAN T cell immunoreceptor with Ig and ITIM domains 94 negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production cell surface|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1) 17 TGGGCCTCACCCTCCAGTCGC 0.577000 14 50 0 0 0.001855 0 0 LHFPL1 340596 broad.mit.edu 37 X 111914478 111914478 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:111914478G>A ENST00000371968.3 - 2 380 c.141C>T c.(139-141)ttC>ttT p.F47F LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Silent_p.F47F NM_178175.3 NP_835469.1 Q86WI0 LHPL1_HUMAN lipoma HMGIC fusion partner-like 1 47 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6) 13 TGCACCTCCGGAATGTGCTGA 0.542000 14 233 0 0 0.002450 0 0 RIT2 6014 broad.mit.edu 37 18 40503541 40503541 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:40503541C>T ENST00000589109.1 - 4 593 c.422G>A c.(421-423)cGc>cAc p.R141H RIT2_ENST00000282028.4_Missense_Mutation_p.R141H|RIT2_ENST00000590910.1_Missense_Mutation_p.A162T|RIT2_ENST00000326695.5_Missense_Mutation_p.R141H NM_001272077.1 NP_001259006.1 Q99578 RIT2_HUMAN Ras-like without CAAX 2 141 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ACTCACCTGGCGGAACTGTTC 0.458000 24 191 0 0 0.003954 0 0 PRKG2 5593 broad.mit.edu 37 4 82031648 82031648 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:82031648C>A ENST00000395578.1 - 15 2010 c.1894G>T c.(1894-1896)Gat>Tat p.D632Y PRKG2_ENST00000545647.1_Missense_Mutation_p.D212Y|PRKG2_ENST00000418486.2_Missense_Mutation_p.D603Y|PRKG2_ENST00000264399.1_Missense_Mutation_p.D632Y|PRKG2_ENST00000509169.1_5'UTR Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 632 Protein kinase. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 GACCAGAAATCCACACTGAAG 0.428000 8 35 5.4927e-09 7.65576e-09 0.004482 1 0 OR4C46 119749 broad.mit.edu 37 11 51515557 51515557 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:51515557C>A ENST00000328188.1 + 1 276 c.276C>A c.(274-276)ttC>ttA p.F92L NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 CCATCCTATTCAATGGATGCA 0.463000 52 122 1.51926e-22 2.79863e-22 0.003610 1 0 TAS1R2 80834 broad.mit.edu 37 1 19180949 19180949 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:19180949G>T ENST00000375371.3 - 3 1036 c.1015C>A c.(1015-1017)Cgc>Agc p.R339S RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 339 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) CCCCACTCGCGGAACTCACTG 0.652000 10 44 1.58986e-06 1.99525e-06 0.008291 1 0 MINA 84864 broad.mit.edu 37 3 97686352 97686352 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:97686352C>A ENST00000333396.6 - 2 668 c.86G>T c.(85-87)gGg>gTg p.G29V MINA_ENST00000360258.4_Missense_Mutation_p.G29V|MINA_ENST00000330299.2_Missense_Mutation_p.G29V|MINA_ENST00000394198.2_Missense_Mutation_p.G29V NM_001042533.2|NM_032778.5 NP_001035998.1|NP_116167.3 Q8IUF8 MINA_HUMAN MYC induced nuclear antigen 29 ribosome biogenesis cytoplasm|nucleolus breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1) 13 AGCTGAAGGCCCCCCAGCTGC 0.483000 10 51 2.17888e-05 2.58025e-05 0.006214 1 0 KRTAP19-7 337974 broad.mit.edu 37 21 31933445 31933445 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr21:31933445C>A ENST00000334849.2 - 1 188 c.164G>T c.(163-165)gGg>gTg p.G55V NM_181614.1 NP_853645.1 Q3SYF9 KR197_HUMAN keratin associated protein 19-7 55 intermediate filament endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 11 CCAGTATCCCCCATAGCATGA 0.453000 140 89 5.62954e-76 1.12235e-75 0.003610 1 0 OR10A4 283297 broad.mit.edu 37 11 6898303 6898303 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:6898303G>T ENST00000379829.2 + 1 448 c.425G>T c.(424-426)tGt>tTt p.C142F NM_207186.2 NP_997069.2 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, member 4 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CACATATCCTGTGCCCAGCTG 0.572000 23 78 1.87028e-06 2.33785e-06 0.012319 1 0 ST6GALNAC5 81849 broad.mit.edu 37 1 77510025 77510025 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:77510025G>T ENST00000477717.1 + 3 633 c.398G>T c.(397-399)cGt>cTt p.R133L NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 133 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 GGCTATGGGCGTGACGTGGGC 0.622000 26 59 3.73808e-20 6.80633e-20 0.005443 1 0 ITIH3 3699 broad.mit.edu 37 3 52840398 52840398 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:52840398C>A ENST00000449956.2 + 18 2038 c.2032C>A c.(2032-2034)Cgc>Agc p.R678S ITIH3_ENST00000416872.2_Intron NM_002217.3 NP_002208.3 Q06033 ITIH3_HUMAN inter-alpha-trypsin inhibitor heavy chain 3 678 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CACAGTGCTGCGCCTTATTCA 0.612000 13 30 9.16793e-09 1.26109e-08 0.004990 1 0 FLNC 2318 broad.mit.edu 37 7 128488078 128488078 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:128488078C>T ENST00000325888.8 + 26 4797 c.4536C>T c.(4534-4536)ccC>ccT p.P1512P FLNC_ENST00000346177.6_Silent_p.P1512P NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1512 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CTGACGGGCCCTACACGGTAG 0.662000 6 12 0 0 0.001168 0 0 RAB11FIP4 84440 broad.mit.edu 37 17 29857480 29857480 + Missense_Mutation SNP G G T rs147400342 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:29857480G>T ENST00000325874.8 + 14 2019 c.1790G>T c.(1789-1791)cGc>cTc p.R597L RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.R495L NM_032932.3 NP_116321.2 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) 597 FIP-RBD.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) ACCGCCTCGCGCGATGAGGTA 0.587000 16 94 3.41278e-10 4.95404e-10 0.004990 1 0 PLA2R1 22925 broad.mit.edu 37 2 160833814 160833814 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:160833814C>A ENST00000283243.7 - 15 2588 c.2382G>T c.(2380-2382)tgG>tgT p.W794C PLA2R1_ENST00000392771.1_Missense_Mutation_p.W794C NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 794 C-type lectin 4. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 TTTTGCATATCCATTCACGTT 0.348000 14 26 2.61681e-11 3.9159e-11 0.002450 1 0 SRBD1 55133 broad.mit.edu 37 2 45616508 45616508 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:45616508C>A ENST00000263736.4 - 21 2991 c.2929G>T c.(2929-2931)Gta>Tta p.V977L SRBD1_ENST00000535761.1_Missense_Mutation_p.V496L|SRBD1_ENST00000490133.1_5'UTR NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 977 S1 motif. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) ATGTTGAGTACTTGGACTTCC 0.448000 18 52 1.00905e-13 1.62168e-13 0.008871 1 0 PRPF40B 25766 broad.mit.edu 37 12 50029645 50029645 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:50029645G>T ENST00000261897.1 + 14 1762 c.1211G>T c.(1210-1212)cGg>cTg p.R404L PRPF40B_ENST00000548825.2_Missense_Mutation_p.R432L|PRPF40B_ENST00000380281.1_Missense_Mutation_p.R410L Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 410 mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 AAGCAGCTCCGGCGCCGCAAT 0.597000 14 26 9.31168e-06 1.13469e-05 0.001855 1 0 CEP104 9731 broad.mit.edu 37 1 3740027 3740027 + Nonsense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:3740027C>A ENST00000378230.3 - 19 2788 c.2464G>T c.(2464-2466)Gaa>Taa p.E822* NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104kDa 822 centriole binding breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 GGCAGCTCTTCCTTGAAAACA 0.542000 32 95 4.74835e-14 7.67042e-14 0.010818 1 0 SPATA31A6 389730 broad.mit.edu 37 9 43627645 43627645 + Nonsense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:43627645C>A ENST00000332857.6 - 4 1070 c.1042G>T c.(1042-1044)Gga>Tga p.G348* NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 GTAAATGATCCAACATTTTCT 0.423000 103 73 2.97704e-61 5.84279e-61 0.003610 1 0 RYR3 6263 broad.mit.edu 37 15 34072493 34072493 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:34072493C>A ENST00000389232.4 + 65 9289 c.9219C>A c.(9217-9219)cgC>cgA p.R3073R RYR3_ENST00000415757.3_Silent_p.R3073R NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3073 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) CCCTTAATCGCTACAATCCAC 0.537000 7 14 8.12818e-05 9.34445e-05 0.001984 1 0 BAI3 577 broad.mit.edu 37 6 70071353 70071353 + Silent SNP A A T rs144565451 byFrequency TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:70071353A>T ENST00000370598.1 + 29 5009 c.4188A>T c.(4186-4188)gcA>gcT p.A1396A BAI3_ENST00000238918.8_Silent_p.A602A|BAI3_ENST00000546190.1_Silent_p.A360A NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1396 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) ATGATAATGCAGGACTATCAA 0.403000 19 34 0 0 0.008871 0 0 OR14C36 127066 broad.mit.edu 37 1 248512288 248512288 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:248512288A>T ENST00000317861.1 + 1 212 c.212A>T c.(211-213)tAc>tTc p.Y71F NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 GATGCCTGCTACATTTCTGTT 0.488000 31 146 0 0 0.009535 0 0 TRBV11-1 28582 broad.mit.edu 37 7 142223982 142223982 + RNA SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:142223982G>T ENST00000390367.3 - 0 201 CAGAAGCTCCGGGCCCTGTCC 0.478000 25 71 3.6726e-16 6.18647e-16 0.003954 1 0 INSRR 3645 broad.mit.edu 37 1 156811916 156811916 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:156811916C>A ENST00000368195.3 - 19 3781 c.3385G>T c.(3385-3387)Gtc>Ttc p.V1129F NTRK1_ENST00000392302.2_Missense_Mutation_p.T18K NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 1129 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCGATCTTGACGGTGAAGTCC 0.587000 8 55 3.09899e-07 3.98441e-07 0.004482 1 0 RIOK3 8780 broad.mit.edu 37 18 21057143 21057143 + Splice_Site SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:21057143G>T ENST00000339486.3 + 11 1872 c.1254_splice c.e11-1 p.V419_splice RIOK3_ENST00000581585.1_Splice_Site_p.V403_splice|RIOK3_ENST00000577501.1_Splice_Site_p.V419_splice NM_003831.3 NP_003822.2 O14730 RIOK3_HUMAN RIO kinase 3 419 Protein kinase. chromosome segregation ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2) 10 all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127) ATTGAAATAGGTCTGGTTGAT 0.413000 21 49 1.28384e-07 1.68504e-07 0.012319 1 0 ANO3 63982 broad.mit.edu 37 11 26463584 26463584 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:26463584C>A ENST00000256737.3 + 2 1018 c.166C>A c.(166-168)Ctc>Atc p.L56I ANO3_ENST00000525139.1_Missense_Mutation_p.L40I|ANO3_ENST00000537978.1_Missense_Mutation_p.L40I|ANO3_ENST00000531646.1_Missense_Mutation_p.L56I NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 56 chloride channel complex chloride channel activity p.L56F(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 GTCTACTTCCCTCTTCCAGTC 0.473000 47 159 7.77372e-23 1.4362e-22 0.003610 1 0 SETBP1 26040 broad.mit.edu 37 18 42530368 42530368 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:42530368G>T ENST00000282030.5 + 4 1359 c.1063G>T c.(1063-1065)Gtc>Ttc p.V355F NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 355 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CCTGGATTGGGTCAAGAATGC 0.488000 Schinzel-Giedion syndrome 16 82 5.01169e-05 5.84698e-05 0.004990 1 0 NDUFS4 4724 broad.mit.edu 37 5 52979007 52979007 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:52979007G>T ENST00000296684.5 + 5 512 c.484G>T c.(484-486)Gca>Tca p.A162S NM_002495.2 NP_002486.1 O43181 NDUS4_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) 162 brain development|cAMP-mediated signaling|mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|positive regulation of fibroblast proliferation|reactive oxygen species metabolic process|regulation of protein phosphorylation|response to cAMP|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(3) 10 Lung NSC(810;8.27e-05)|Breast(144;0.0848) NADH(DB00157) GTCTTATGGTGCAAACTTTTC 0.388000 51 66 4.44712e-29 8.43882e-29 0.003610 1 0 IMPDH1 3614 broad.mit.edu 37 7 128034398 128034398 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:128034398C>T ENST00000338791.6 - 16 2062 c.1712G>A c.(1711-1713)gGa>gAa p.G571E IMPDH1_ENST00000378717.4_Missense_Mutation_p.G502E|IMPDH1_ENST00000348127.6_Missense_Mutation_p.G535E|IMPDH1_ENST00000354269.5_Missense_Mutation_p.G561E|IMPDH1_ENST00000343214.4_Missense_Mutation_p.G461E|IMPDH1_ENST00000480861.1_Missense_Mutation_p.G481E|IMPDH1_ENST00000470772.1_Missense_Mutation_p.G485E|IMPDH1_ENST00000496200.1_Missense_Mutation_p.G461E|IMPDH1_ENST00000419067.2_Missense_Mutation_p.G538E NM_000883.3 NP_000874.2 P20839 IMDH1_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 1 486 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) CTTGAGCTCTCCTGAGTACAT 0.577000 8 81 0 0 0.004482 0 0 NID2 22795 broad.mit.edu 37 14 52505539 52505539 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr14:52505539C>A ENST00000216286.5 - 9 2182 c.2183G>T c.(2182-2184)cGg>cTg p.R728L NID2_ENST00000541773.1_Missense_Mutation_p.R675L NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 728 Nidogen G2 beta-barrel. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) GGCAAAGACCCGGTCCACGTT 0.522000 20 76 5.26018e-13 8.28478e-13 0.012319 1 0 DOCK4 9732 broad.mit.edu 37 7 111430661 111430661 + Splice_Site SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:111430661C>A ENST00000428084.1 - 31 3439 c.3166_splice c.e31-1 p.G1056_splice DOCK4_ENST00000437633.1_Splice_Site_p.G1056_splice Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1056 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) CTTGTGCTCTCCTAAAGTGAG 0.323000 7 17 8.12818e-05 9.34445e-05 0.001984 1 0 FAT2 2196 broad.mit.edu 37 5 150946570 150946570 + Silent SNP T T G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:150946570T>G ENST00000261800.5 - 1 1935 c.1923A>C c.(1921-1923)acA>acC p.T641T NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 641 Cadherin 5. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CATCTGAGGCTGTAATCTTCA 0.413000 25 24 0 0 0.003954 0 0 LDHA 3939 broad.mit.edu 37 11 18421090 18421090 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:18421090G>T ENST00000422447.3 + 3 512 c.239G>T c.(238-240)gGc>gTc p.G80V LDHA_ENST00000227157.4_Missense_Mutation_p.G80V|LDHA_ENST00000379412.5_Missense_Mutation_p.G80V|LDHA_ENST00000396222.2_Missense_Mutation_p.G80V|LDHA_ENST00000540430.1_Missense_Mutation_p.G109V|LDHA_ENST00000430553.2_Missense_Mutation_p.G80V|LDHA_ENST00000542179.1_Missense_Mutation_p.G80V NM_001135239.1|NM_005566.3 NP_001128711.1|NP_005557.1 P00338 LDHA_HUMAN lactate dehydrogenase A 80 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity|protein binding central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4) 12 NADH(DB00157) ATTGTCTCTGGCAAAGGTTGA 0.393000 11 55 3.07112e-06 3.79373e-06 0.010729 1 0 ZNF560 147741 broad.mit.edu 37 19 9578679 9578679 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:9578679C>T ENST00000301480.4 - 10 1157 c.944G>A c.(943-945)aGt>aAt p.S315N NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 315 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 TTTTTCTCCACTCTGAGTTTT 0.398000 6 82 0 0 0.001168 0 0 MYO9B 4650 broad.mit.edu 37 19 17313008 17313008 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:17313008A>G ENST00000595618.1 + 28 4884 c.4732A>G c.(4732-4734)Act>Gct p.T1578A MYO9B_ENST00000594824.1_Missense_Mutation_p.T1578A|MYO9B_ENST00000397274.2_Missense_Mutation_p.T1578A NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1578 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 CAACCTGGCCACTGAGCGTGG 0.562000 17 12 0 0 0.006122 0 0 COL11A2 1302 broad.mit.edu 37 6 33151934 33151934 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:33151934G>T ENST00000341947.2 - 8 1334 c.1107C>A c.(1105-1107)gcC>gcA p.A369A COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000374708.4_Intron|COL11A2_ENST00000374713.1_Silent_p.A322A|COL11A2_ENST00000374714.1_Silent_p.A343A|COL11A2_ENST00000395197.1_Intron|COL11A2_ENST00000357486.1_Silent_p.A348A|COL11A2_ENST00000374712.1_Intron NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 369 Nonhelical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CTCCTGAGTGGGCTGTCTCCG 0.532000 6 119 0.00116845 0.00128468 0.001168 1 0 CUEDC1 404093 broad.mit.edu 37 17 55950963 55950963 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:55950963C>A ENST00000577830.1 - 4 993 c.580G>T c.(580-582)Gac>Tac p.D194Y CUEDC1_ENST00000360238.2_Missense_Mutation_p.D194Y|CUEDC1_ENST00000577840.1_Missense_Mutation_p.D57Y|CUEDC1_ENST00000407144.2_Missense_Mutation_p.D194Y NM_001271875.1 NP_001258804.1 Q9NWM3 CUED1_HUMAN CUE domain containing 1 194 endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 TGTATGCTGTCCAGCTGCTGG 0.587000 26 69 3.28513e-13 5.21317e-13 0.003954 1 0 PTPN23 25930 broad.mit.edu 37 3 47450286 47450286 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:47450286G>A ENST00000265562.4 + 16 1428 c.1351G>A c.(1351-1353)Gat>Aat p.D451N PTPN23_ENST00000431726.1_Missense_Mutation_p.D325N NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 451 cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGTGTTCACGGATGTGGAGGC 0.612000 23 85 0 0 0.002780 0 0 FAM208B 54906 broad.mit.edu 37 10 5791121 5791121 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:5791121G>C ENST00000328090.5 + 15 6362 c.5737G>C c.(5737-5739)Gtc>Ctc p.V1913L NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 1913 GCCGCCTTACGTCCAAATCCG 0.542000 12 30 0 0 0.010729 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95726882 95726882 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:95726882G>T ENST00000324972.6 + 17 2108 c.1915G>T c.(1915-1917)Ggc>Tgc p.G639C DYNC1I1_ENST00000359388.4_Missense_Mutation_p.G602C|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.G622C|DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.G619C|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.G622C NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 639 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) CGAGGAGGAAGGCACTGTTGA 0.512000 14 47 1.49906e-05 1.79887e-05 0.002450 1 0 ZNF516 9658 broad.mit.edu 37 18 74091856 74091856 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:74091856C>A ENST00000443185.2 - 4 2531 c.2214G>T c.(2212-2214)agG>agT p.R738S ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 738 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CCCGCGTCGACCTCGCACTTA 0.592000 37 25 1.836e-18 3.22195e-18 0.003755 1 0 RYR1 6261 broad.mit.edu 37 19 38933001 38933001 + Missense_Mutation SNP G G A rs118192160 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:38933001G>A ENST00000355481.4 + 3 309 c.178G>A c.(178-180)Gat>Aat p.D60N RYR1_ENST00000359596.3_Missense_Mutation_p.D60N|RYR1_ENST00000360985.3_Missense_Mutation_p.D60N NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 60 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGTGCCCCCCGATCTGGCCAT 0.632000 18 97 0 0 0.007413 0 0 NKD2 85409 broad.mit.edu 37 5 1034410 1034410 + Missense_Mutation SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:1034410T>C ENST00000296849.5 + 6 620 c.391T>C c.(391-393)Tat>Cat p.Y131H NKD2_ENST00000537972.1_Missense_Mutation_p.Y131H|NKD2_ENST00000274150.4_Missense_Mutation_p.Y131H NM_033120.2 NP_149111.1 Q969F2 NKD2_HUMAN naked cuticle homolog 2 (Drosophila) 131 EF-hand.|Interaction with DVL1, DVL2 and DVL3 (By similarity).|Targeting to the basolateral cell membrane. exocytosis|Wnt receptor signaling pathway cytoplasmic membrane-bounded vesicle|plasma membrane calcium ion binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1) 14 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) GTTCACGCTCTATGACTTTGA 0.622000 16 67 0 0 0.012319 0 0 RYR2 6262 broad.mit.edu 37 1 237729937 237729937 + Silent SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:237729937A>T ENST00000366574.2 + 28 3602 c.3285A>T c.(3283-3285)gcA>gcT p.A1095A RYR2_ENST00000360064.6_Silent_p.A1093A|RYR2_ENST00000542537.1_Silent_p.A1079A NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1095 4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGACCTATGCAGTGAAGGCCG 0.557000 77 79 0 0 0.003610 0 0 MUC6 4588 broad.mit.edu 37 11 1025222 1025222 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:1025222C>T ENST00000421673.2 - 23 2995 c.2945G>A c.(2944-2946)aGg>aAg p.R982K NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 982 VWFD 3. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|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;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGTCATGTGCCTGTTCCAGAT 0.657000 61 153 0 0 0.003610 0 0 BRCA1 672 broad.mit.edu 37 17 41234513 41234513 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:41234513C>A ENST00000309486.4 - 11 4404 c.3377G>T c.(3376-3378)gGg>gTg p.G1126V BRCA1_ENST00000491747.2_Missense_Mutation_p.G319V|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.G1422V|BRCA1_ENST00000352993.3_Missense_Mutation_p.G280V|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.G1375V|BRCA1_ENST00000351666.3_Missense_Mutation_p.G239V|BRCA1_ENST00000354071.3_Missense_Mutation_p.G1422V|BRCA1_ENST00000346315.3_Missense_Mutation_p.G1422V|BRCA1_ENST00000471181.2_Missense_Mutation_p.G1422V|BRCA1_ENST00000468300.1_Missense_Mutation_p.G319V|BRCA1_ENST00000591849.1_Intron NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 1422 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) AGGCTGGCTCCCATGCTGTTC 0.453000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 25 67 2.79863e-10 4.08134e-10 0.004656 1 0 MOCOS 55034 broad.mit.edu 37 18 33775249 33775249 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:33775249A>T ENST00000261326.5 + 2 193 c.172A>T c.(172-174)Acc>Tcc p.T58S NM_017947.2 NP_060417.2 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 58 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Pyridoxal Phosphate(DB00114) TGCAGGTGCCACCTTGTTCTC 0.388000 56 87 0 0 0.003610 0 0 PVRL1 5818 broad.mit.edu 37 11 119548513 119548513 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:119548513C>A ENST00000264025.3 - 3 1015 c.485G>T c.(484-486)gGg>gTg p.G162V PVRL1_ENST00000341398.2_Missense_Mutation_p.G162V|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Missense_Mutation_p.G162V NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 162 Ig-like C2-type 1. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) GTCATCCTGCCCCTTCTTGGC 0.562000 13 30 1.49906e-05 1.79887e-05 0.002450 1 0 OLIG2 10215 broad.mit.edu 37 21 34399437 34399437 + Silent SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr21:34399437G>C ENST00000333337.3 + 1 1195 c.267G>C c.(265-267)gcG>gcC p.A89A OLIG2_ENST00000382357.3_Silent_p.A89A|AP000282.2_ENST00000454622.1_RNA|AP000282.2_ENST00000420356.1_RNA Q13516 OLIG2_HUMAN oligodendrocyte lineage transcription factor 2 89 cytoplasm|nucleus|plasma membrane DNA binding breast(1)|central_nervous_system(2) 3 CGTCGTCGGCGGCTGCGTCGT 0.632000 T TRA@ T-ALL 6 10 0 0 0.001168 0 0 MEGF6 1953 broad.mit.edu 37 1 3427376 3427376 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:3427376C>A ENST00000356575.4 - 10 1431 c.1205G>T c.(1204-1206)cGg>cTg p.R402L MEGF6_ENST00000294599.4_Missense_Mutation_p.R297L NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 402 EGF-like 7. extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GGCACTGAGCCGGTAGCCGGC 0.672000 23 48 1.66031e-10 2.44963e-10 0.003954 1 0 LRRC14B 389257 broad.mit.edu 37 5 195279 195279 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:195279C>A ENST00000328278.3 + 2 1384 c.1356C>A c.(1354-1356)gaC>gaA p.D452E NM_001080478.1 NP_001073947.1 A6NHZ5 LR14B_HUMAN leucine rich repeat containing 14B 452 endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2) 10 AGAAATACGACGAGATCGCCG 0.592000 42 187 4.07013e-28 7.70025e-28 0.008740 1 0 GRID1 2894 broad.mit.edu 37 10 87628790 87628790 + Nonsense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:87628790C>A ENST00000327946.7 - 6 1013 c.928G>T c.(928-930)Gaa>Taa p.E310* NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 310 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) AGGTAGCCTTCCTGGGGGTCG 0.577000 Multiple Myeloma(13;0.14) 25 54 1.1804e-14 1.93156e-14 0.003954 1 0 NLRP7 199713 broad.mit.edu 37 19 55450993 55450993 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:55450993G>T ENST00000446217.1 - 6 1680 c.1278C>A c.(1276-1278)ctC>ctA p.L426L NLRP7_ENST00000340844.2_Silent_p.L398L|NLRP7_ENST00000448121.2_Silent_p.L398L|NLRP7_ENST00000592784.1_Silent_p.L398L|NLRP7_ENST00000588756.1_Silent_p.L398L|NLRP7_ENST00000590030.1_Silent_p.L398L|NLRP7_ENST00000328092.5_Silent_p.L398L Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 398 NACHT. ATP binding p.L398L(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) ACCGGCTGCAGAGGAAACGCA 0.692000 7 20 1.58986e-06 1.99525e-06 0.008291 1 0 SLC6A2 6530 broad.mit.edu 37 16 55703493 55703493 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr16:55703493G>A ENST00000379906.2 + 2 546 c.291G>A c.(289-291)ccG>ccA p.P97P SLC6A2_ENST00000568943.1_Silent_p.P97P|SLC6A2_ENST00000219833.8_Silent_p.P97P|SLC6A2_ENST00000566163.1_Silent_p.P97P|SLC6A2_ENST00000561820.1_Silent_p.P97P|SLC6A2_ENST00000414754.3_Silent_p.P97P NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 97 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) TCTTGATCCCGTACACACTGT 0.577000 5 74 0 0 0.001168 0 0 AFF2 2334 broad.mit.edu 37 X 148039929 148039929 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:148039929C>A ENST00000370460.2 + 12 3110 c.2631C>A c.(2629-2631)atC>atA p.I877I AFF2_ENST00000370457.5_Silent_p.I844I|AFF2_ENST00000286437.5_Silent_p.I518I|AFF2_ENST00000342251.3_Silent_p.I844I NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 877 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CCACAACTATCTGCTTGCTCC 0.512000 160 190 5.70634e-75 1.13407e-74 0.003610 1 0 ANK3 288 broad.mit.edu 37 10 62149354 62149354 + Translation_Start_Site SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:62149354C>A ENST00000280772.1 - 0 134 ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 AGGTGATATCCTCAGGCACCT 0.413000 7 36 0.00198382 0.00215484 0.001984 1 0 TP53I11 9537 broad.mit.edu 37 11 44956479 44956479 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:44956479T>A ENST00000533940.1 - 10 1130 c.526A>T c.(526-528)Att>Ttt p.I176F TP53I11_ENST00000525680.1_Missense_Mutation_p.I176F|TP53I11_ENST00000395648.3_Missense_Mutation_p.I176F|TP53I11_ENST00000308212.5_Missense_Mutation_p.I176F NM_001258320.1 NP_001245249.1 O14683 P5I11_HUMAN tumor protein p53 inducible protein 11 176 negative regulation of cell proliferation|response to stress integral to membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1) 5 TAGTAGTAAATGCTGATGACG 0.627000 26 67 0 0 0.003330 0 0 SNHG14 104472715 broad.mit.edu 37 15 25425505 25425505 + RNA SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:25425505G>T ENST00000441592.2 + 0 493 CCCCAGGCCAGTGTCTCTCAG 0.607000 15 21 1.49906e-05 1.79887e-05 0.002450 1 0 KIF4B 285643 broad.mit.edu 37 5 154396536 154396536 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:154396536G>C ENST00000435029.4 + 1 3277 c.3117G>C c.(3115-3117)atG>atC p.M1039I NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 1039 Globular (By similarity).|Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AGCAAAGCATGGACATCGAGG 0.418000 35 33 0 0 0.002836 0 0 DCDC1 341019 broad.mit.edu 37 11 31312234 31312234 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:31312234T>A ENST00000597505.1 - 5 919 c.920A>T c.(919-921)gAt>gTt p.D307V DCDC1_ENST00000452803.1_Missense_Mutation_p.D307V P59894 DCDC1_HUMAN doublecortin domain containing 1 307 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) CTCATGCCCATCCTGCCCCAT 0.343000 9 49 0 0 0.006214 0 0 PEX2 5828 broad.mit.edu 37 8 77895700 77895700 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:77895700T>A ENST00000419564.2 - 4 1179 c.715A>T c.(715-717)Acc>Tcc p.T239S PEX2_ENST00000357039.4_Missense_Mutation_p.T239S|PEX2_ENST00000520103.1_Missense_Mutation_p.T239S|PEX2_ENST00000522527.1_Missense_Mutation_p.T239S NM_001172087.1 NP_001165558.1 P28328 PEX2_HUMAN peroxisomal biogenesis factor 2 239 peroxisome organization integral to peroxisomal membrane protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 14 TTGCCACTGGTGGCTAATGTA 0.428000 7 78 0 0 0.001984 0 0 GRM1 2911 broad.mit.edu 37 6 146719925 146719925 + Missense_Mutation SNP C C T rs146996893 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:146719925C>T ENST00000392299.2 + 8 2220 c.1750C>T c.(1750-1752)Cgc>Tgc p.R584C GRM1_ENST00000355289.4_Missense_Mutation_p.R584C|GRM1_ENST00000282753.1_Missense_Mutation_p.R584C|GRM1_ENST00000492807.2_Missense_Mutation_p.R584C|GRM1_ENST00000507907.1_Missense_Mutation_p.R584C|GRM1_ENST00000361719.2_Missense_Mutation_p.R584C Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 584 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CATTCCTGTGCGCTATCTTGA 0.423000 7 174 0 0 0.001984 0 0 CHL1 10752 broad.mit.edu 37 3 447382 447382 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:447382C>A ENST00000256509.2 + 28 4305 c.3663C>A c.(3661-3663)ccC>ccA p.P1221P CHL1_ENST00000397491.2_Silent_p.P1205P NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 1205 axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CAACTTTTCCCCTTCGGGCAT 0.418000 9 20 0.000274275 0.00030856 0.004482 1 0 COG5 10466 broad.mit.edu 37 7 107204403 107204403 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:107204403G>T ENST00000393603.2 - 1 303 c.32C>A c.(31-33)tCt>tAt p.S11Y COG5_ENST00000297135.3_Missense_Mutation_p.S11Y|COG5_ENST00000347053.3_Missense_Mutation_p.S11Y|DUS4L_ENST00000265720.3_5'UTR|DUS4L_ENST00000498786.1_Intron NM_001161520.1 NP_001154992.1 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 11 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 TGGTGACGCAGAATCCCGGCG 0.701000 7 14 3.09899e-07 3.98441e-07 0.004482 1 0 CNGB3 54714 broad.mit.edu 37 8 87679339 87679339 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:87679339G>T ENST00000320005.5 - 6 713 c.666C>A c.(664-666)ctC>ctA p.L222L NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 222 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 TGACAAGCAAGAGCCACAGGA 0.438000 12 34 5.50884e-06 6.75208e-06 0.001368 1 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 6 65 0 0 0.001168 0 0 NCOR1 9611 broad.mit.edu 37 17 16068441 16068441 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:16068441G>A ENST00000268712.3 - 5 727 c.470C>T c.(469-471)tCc>tTc p.S157F NCOR1_ENST00000395848.1_Missense_Mutation_p.S48F|NCOR1_ENST00000395851.1_Missense_Mutation_p.S157F NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 157 Interaction with ZBTB33 and HEXIM1. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) AATTGGAGAGGATGGAGCTTC 0.393000 6 81 0 0 0.003080 0 0 TTN 7273 broad.mit.edu 37 2 179598167 179598167 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:179598167C>T ENST00000589042.1 - 54 16077 c.15853G>A c.(15853-15855)Gca>Aca p.A5285T TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A4041T|TTN_ENST00000591111.1_Missense_Mutation_p.A4968T|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4968 Ig-like 33. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGCGTGCCTGCCACTGTGTAC 0.468000 7 195 0 0 0.004482 0 0 MECOM 2122 broad.mit.edu 37 3 169099123 169099123 + Missense_Mutation SNP A A C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:169099123A>C ENST00000494292.1 - 2 324 c.227T>G c.(226-228)aTt>aGt p.I76S MECOM_ENST00000485957.1_5'UTR NM_004991.3 NP_004982.2 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 76 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CTCAGCAGGAATGGGGATATC 0.473000 25 80 0 0 0.003330 0 0 RPAP1 26015 broad.mit.edu 37 15 41822157 41822157 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:41822157G>A ENST00000304330.4 - 8 1080 c.964C>T c.(964-966)Cct>Tct p.P322S RPAP1_ENST00000561603.1_Missense_Mutation_p.P322S|RPAP1_ENST00000568413.1_5'UTR NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 322 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) TCTTTCTGAGGGGTCACGGGC 0.592000 8 23 0 0 0.004482 0 0 CUX2 23316 broad.mit.edu 37 12 111785481 111785481 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:111785481C>A ENST00000261726.6 + 22 3967 c.3813C>A c.(3811-3813)acC>acA p.T1271T NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 1271 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 AGAAGCCAACCGTGAAGGAAC 0.617000 12 43 0.00010058 0.00011521 0.001368 1 0 OR10AG1 282770 broad.mit.edu 37 11 55735071 55735071 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:55735071A>T ENST00000312345.2 - 1 919 c.869T>A c.(868-870)gTg>gAg p.V290E NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) TCTCAATGCCACCATGATATC 0.328000 7 37 0 0 0.006214 0 0 RPAP1 26015 broad.mit.edu 37 15 41823359 41823359 + Nonsense_Mutation SNP G G A rs78256246 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:41823359G>A ENST00000304330.4 - 7 921 c.805C>T c.(805-807)Caa>Taa p.Q269* RPAP1_ENST00000561603.1_Nonsense_Mutation_p.Q269*|RPAP1_ENST00000568413.1_5'UTR NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 269 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GTTTGCTCTTGCGTGTGGCTG 0.562000 50 158 0 0 0.003610 0 0 ERMN 57471 broad.mit.edu 37 2 158178139 158178139 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:158178139G>T ENST00000410096.1 - 3 790 c.499C>A c.(499-501)Caa>Aaa p.Q167K ERMN_ENST00000397283.2_Missense_Mutation_p.Q180K|ERMN_ENST00000420719.2_Missense_Mutation_p.Q147K|ERMN_ENST00000535935.1_Missense_Mutation_p.Q61K NM_020711.1 NP_065762.1 Q8TAM6 ERMIN_HUMAN ermin, ERM-like protein 167 cytoplasm|cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 ATGTCAGCTTGGCTAGGTTTT 0.408000 43 66 8.20599e-20 1.48557e-19 0.011902 1 0 GABRG3 2567 broad.mit.edu 37 15 27572044 27572044 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:27572044G>T ENST00000333743.6 + 4 613 c.359G>T c.(358-360)aGc>aTc p.S120I GABRG3_ENST00000555083.1_Missense_Mutation_p.S120I NM_033223.4 NP_150092.2 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 3 120 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) ACTCTGAACAGCAACATGGTG 0.458000 23 57 3.01185e-09 4.21659e-09 0.003954 1 0 LAMA3 3909 broad.mit.edu 37 18 21485527 21485527 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:21485527G>T ENST00000313654.9 + 52 6898 c.6657G>T c.(6655-6657)ctG>ctT p.L2219L LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.L554L|LAMA3_ENST00000269217.6_Silent_p.L610L|LAMA3_ENST00000399516.3_Silent_p.L2163L NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2219 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTAAAACCCTGAGTTCCAACA 0.393000 27 50 3.65163e-15 6.03813e-15 0.006320 1 0 PCDHA13 56136 broad.mit.edu 37 5 140263343 140263343 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:140263343G>T ENST00000289272.2 + 1 1490 c.1490G>T c.(1489-1491)cGg>cTg p.R497L PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R497L|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGTGGAGCGGCGGGTGGGC 0.662000 78 48 1.71382e-40 3.33243e-40 0.003610 1 0 ZIM2 23619 broad.mit.edu 37 19 57293363 57293363 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:57293363T>A ENST00000391708.3 - 10 1146 c.604A>T c.(604-606)Agg>Tgg p.R202W ZIM2_ENST00000601070.1_Missense_Mutation_p.R202W|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.R202W|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.R202W|ZIM2_ENST00000599935.1_Missense_Mutation_p.R202W NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) ATCACCTCCCTGTAGAGGTTT 0.512000 12 105 0 0 0.001368 0 0 LCE2D 353141 broad.mit.edu 37 1 152636901 152636901 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:152636901G>T ENST00000368784.1 + 2 375 c.320G>T c.(319-321)gGg>gTg p.G107V NM_178430.2 NP_848517.1 Q5TA82 LCE2D_HUMAN late cornified envelope 2D 107 Cys-rich. keratinization large_intestine(1)|lung(7)|prostate(2) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CACAGCTCTGGGGGCTGCTGC 0.592000 24 147 2.21704e-12 3.39837e-12 0.002780 1 0 SLC7A9 11136 broad.mit.edu 37 19 33355045 33355045 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:33355045C>A ENST00000023064.4 - 4 626 c.435G>T c.(433-435)aaG>aaT p.K145N SLC7A9_ENST00000587772.1_Missense_Mutation_p.K145N|SLC7A9_ENST00000590341.1_Missense_Mutation_p.K145N NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 145 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) TTTGAGGAGGCTTGCAGCCCA 0.592000 9 35 0.00010058 0.00011521 0.001368 1 0 INSC 387755 broad.mit.edu 37 11 15267485 15267485 + Missense_Mutation SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:15267485T>C ENST00000379554.3 + 13 1685 c.1639T>C c.(1639-1641)Tgc>Cgc p.C547R INSC_ENST00000525218.1_Missense_Mutation_p.C458R|INSC_ENST00000424273.1_Missense_Mutation_p.C458R|INSC_ENST00000379556.3_Missense_Mutation_p.C500R|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000530161.1_Missense_Mutation_p.C500R|INSC_ENST00000528567.1_3'UTR NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 547 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 GGCTGGGGTCTGCCCTGAAGG 0.547000 26 102 0 0 0.003954 0 0 MAST3 23031 broad.mit.edu 37 19 18235570 18235570 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:18235570A>T ENST00000262811.5 + 10 977 c.977A>T c.(976-978)aAg>aTg p.K326M NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 326 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 GGCCTGGCCAAGGACCCCCTG 0.612000 11 25 0 0 0.010729 0 0 CPA6 57094 broad.mit.edu 37 8 68421816 68421816 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:68421816G>A ENST00000297770.4 - 5 685 c.470C>T c.(469-471)tCa>tTa p.S157L CPA6_ENST00000297769.4_Missense_Mutation_p.S9L|CPA6_ENST00000518549.1_Missense_Mutation_p.S157L NM_020361.4 NP_065094.3 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 157 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) AATGAGGCCTGAGTGAGTTTT 0.303000 11 42 0 0 0.001368 0 0 OR4C15 81309 broad.mit.edu 37 11 55322784 55322784 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:55322784G>T ENST00000314644.2 + 1 1002 c.1002G>T c.(1000-1002)ttG>ttT p.L334F NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TAAATCCCTTGCTCAATCCTT 0.363000 HNSCC(20;0.049) 22 87 3.62473e-10 5.23757e-10 0.012319 1 0 PTGR1 22949 broad.mit.edu 37 9 114348369 114348369 + Missense_Mutation SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:114348369T>C ENST00000407693.2 - 5 548 c.286A>G c.(286-288)Att>Gtt p.I96V PTGR1_ENST00000238248.3_5'UTR|PTGR1_ENST00000309195.5_Missense_Mutation_p.I96V|PTGR1_ENST00000538962.1_Missense_Mutation_p.I96V NM_001146108.1 NP_001139580.1 Q14914 PTGR1_HUMAN prostaglandin reductase 1 96 leukotriene metabolic process cytoplasm 15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(3)|ovary(1) 11 CCATCAGAAATGGAGTGCGTT 0.473000 28 53 0 0 0.005443 0 0 AKR1C4 1109 broad.mit.edu 37 10 5258743 5258743 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:5258743G>A ENST00000380448.1 + 10 1169 c.916G>A c.(916-918)Gtt>Att p.V306I AKR1C4_ENST00000263126.1_Missense_Mutation_p.V306I P17516 AK1C4_HUMAN aldo-keto reductase family 1, member C4 306 androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 18 NADH(DB00157) TTATCGATATGTTGTCATGGA 0.348000 3 12 0 0 0.004672 0 0 FBXL7 23194 broad.mit.edu 37 5 15928506 15928506 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:15928506C>A ENST00000504595.1 + 3 1116 c.635C>A c.(634-636)cCc>cAc p.P212H FBXL7_ENST00000329673.7_Missense_Mutation_p.P200H|FBXL7_ENST00000510662.1_Missense_Mutation_p.P165H NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 212 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 CAGTGCTGCCCCGAACTGAGG 0.582000 29 55 1.77063e-15 2.95105e-15 0.005443 1 0 FRMD6 122786 broad.mit.edu 37 14 52188672 52188672 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr14:52188672G>A ENST00000395718.2 + 12 1627 c.1342G>A c.(1342-1344)Gag>Aag p.E448K FRMD6_ENST00000553556.1_Missense_Mutation_p.E98K|FRMD6_ENST00000554167.1_Missense_Mutation_p.E379K|FRMD6_ENST00000356218.4_Missense_Mutation_p.E448K|FRMD6_ENST00000344768.5_Missense_Mutation_p.E456K NM_001267046.1|NM_152330.3 NP_001253975.1|NP_689543.1 Q96NE9 FRMD6_HUMAN FERM domain containing 6 456 cytoskeleton|mitochondrion|plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_epithelial(31;0.0163)|Breast(41;0.089) GTCAGAAATAGAGATGTTGGT 0.418000 19 43 0 0 0.008871 0 0 TLR7 51284 broad.mit.edu 37 X 12906090 12906090 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:12906090G>A ENST00000380659.3 + 3 2602 c.2463G>A c.(2461-2463)aaG>aaA p.K821K NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 821 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) GAGCACACAAGGGCCAAAGTG 0.488000 13 74 0 0 0.001855 0 0 LY75 4065 broad.mit.edu 37 2 160673472 160673472 + Missense_Mutation SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:160673472T>C ENST00000263636.4 - 30 4252 c.4225A>G c.(4225-4227)Att>Gtt p.I1409V LY75-CD302_ENST00000504764.1_Missense_Mutation_p.I1409V|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.I1409V|LY75_ENST00000553424.1_Missense_Mutation_p.I1409V|LY75_ENST00000554112.1_Missense_Mutation_p.I1409V NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) TTTTTTTGAATAACACTGTAA 0.353000 26 26 0 0 0.003954 0 0 TRPV5 56302 broad.mit.edu 37 7 142627152 142627152 + Splice_Site SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:142627152C>A ENST00000265310.1 - 3 698 c.e3+1 TRPV5_ENST00000442623.1_Splice_Site NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) AGGCTCCTTACCTGCAAAAGC 0.537000 35 86 1.36161e-19 2.45091e-19 0.004289 1 0 LRWD1 222229 broad.mit.edu 37 7 102108574 102108574 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:102108574G>T ENST00000292616.5 + 6 896 c.744G>T c.(742-744)gcG>gcT p.A248A NM_152892.1 NP_690852.1 Q9UFC0 LRWD1_HUMAN leucine-rich repeats and WD repeat domain containing 1 248 chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin chromatin binding|methyl-CpG binding|methylated histone residue binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2) 20 GCAAGCGGGCGTGTGCCTCCC 0.682000 3 18 0.004672 0.00501424 0.004672 1 0 KCNK16 83795 broad.mit.edu 37 6 39282878 39282878 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:39282878G>T ENST00000373229.5 - 6 843 c.830C>A c.(829-831)gCg>gAg p.A277E KCNK16_ENST00000425054.2_3'UTR|KCNK16_ENST00000373227.4_Missense_Mutation_p.A230E|KCNK16_ENST00000507712.1_Missense_Mutation_p.A165E NM_032115.3 NP_115491.1 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 277 integral to membrane potassium channel activity|voltage-gated ion channel activity large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2) 13 GCCTGGAGCCGCCTTGGCTCC 0.572000 31 127 2.47316e-13 3.94453e-13 0.003271 1 0 COL15A1 1306 broad.mit.edu 37 9 101749627 101749627 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:101749627C>A ENST00000375001.3 + 4 1123 c.700C>A c.(700-702)Ctg>Atg p.L234M NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 234 Nonhelical region 1 (NC1). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TCCCGAGGAGCTGTGTGACCC 0.642000 15 160 1.3612e-06 1.72547e-06 0.003163 1 0 RAD54L 8438 broad.mit.edu 37 1 46726526 46726526 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:46726526G>C ENST00000371975.4 + 7 1279 c.605G>C c.(604-606)cGc>cCc p.R202P RAD54L_ENST00000442598.1_Missense_Mutation_p.R202P NM_003579.3 NP_003570.2 Q92698 RAD54_HUMAN RAD54-like (S. cerevisiae) 202 Helicase ATP-binding. R -> C (in dbSNP:rs28363218). meiosis nucleus ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 25 Acute lymphoblastic leukemia(166;0.155) Breast(1374;0.0634) KIRC - Kidney renal clear cell carcinoma(1967;0.000896) ACACTTTTACGCCAGAGTCCA 0.547000 Direct reversal of damage;Homologous recombination 9 37 0 0 0.004482 0 0 CACNG2 10369 broad.mit.edu 37 22 37098411 37098411 + Splice_Site SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr22:37098411C>T ENST00000300105.6 - 1 1192 c.211_splice c.e1+1 p.G71_splice NM_006078.3 NP_006069.1 Q9Y698 CCG2_HUMAN calcium channel, voltage-dependent, gamma subunit 2 71 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 AGTCAAGTACCTTCTAGGCAG 0.527000 18 55 0 0 0.006122 0 0 SI 6476 broad.mit.edu 37 3 164735453 164735453 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:164735453G>T ENST00000264382.3 - 31 3704 c.3642C>A c.(3640-3642)ggC>ggA p.G1214G NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1214 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGACTGGATGGCCAATTACCT 0.318000 HNSCC(35;0.089) 5 12 0.00198382 0.00215484 0.001984 1 0 RAB6C 84084 broad.mit.edu 37 2 130738066 130738066 + Silent SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:130738066T>C ENST00000410061.2 + 1 832 c.378T>C c.(376-378)aaT>aaC p.N126N NM_032144.2 NP_115520.2 Q9H0N0 RAB6C_HUMAN RAB6C, member RAS oncogene family 126 protein transport|response to drug|small GTPase mediated signal transduction GTP binding|GTPase activity large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 5 Colorectal(110;0.1) TAGTAGGAAATAGAACAGATC 0.413000 73 168 0 0 0.003610 0 0 CD97 976 broad.mit.edu 37 19 14515282 14515282 + Missense_Mutation SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:14515282T>C ENST00000242786.5 + 13 1617 c.1537T>C c.(1537-1539)Tgc>Cgc p.C513R CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Missense_Mutation_p.C420R|CD97_ENST00000357355.3_Missense_Mutation_p.C464R NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 513 GPS. cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CACCGAGGGCTGCCAGGTGCT 0.617000 37 54 0 0 0.003271 0 0 PARK2 5071 broad.mit.edu 37 6 162683678 162683678 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:162683678C>A ENST00000366898.1 - 3 393 c.291G>T c.(289-291)cgG>cgT p.R97R PARK2_ENST00000366892.1_Silent_p.R97R|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366894.1_Intron|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Silent_p.R97R NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 97 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) TCTGGGGCTCCCGCTCACAGC 0.582000 22 56 3.5997e-14 5.82985e-14 0.002299 1 0 AUTS2 26053 broad.mit.edu 37 7 70255379 70255379 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:70255379G>T ENST00000342771.4 + 19 3498 c.3177G>T c.(3175-3177)gaG>gaT p.E1059D AUTS2_ENST00000406775.2_Missense_Mutation_p.E1035D NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 1059 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CGGGCGGAGAGCGCTTCCCGT 0.632000 7 27 5.18039e-06 6.36188e-06 0.003080 1 0 PCDH10 57575 broad.mit.edu 37 4 134071464 134071464 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:134071464C>A ENST00000264360.4 + 1 995 c.169C>A c.(169-171)Ccc>Acc p.P57T NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 57 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) TCAGACGGTGCCCAACTCAAG 0.527000 34 90 4.34311e-12 6.62508e-12 0.003271 1 0 COL5A1 1289 broad.mit.edu 37 9 137630345 137630345 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:137630345G>T ENST00000371817.3 + 10 1829 c.1415G>T c.(1414-1416)gGc>gTc p.G472V NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 472 Interrupted collagenous region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GGCCCGCCTGGCCCAGAAGGC 0.642000 7 76 1.58986e-06 1.99525e-06 0.008291 1 0 BEND6 221336 broad.mit.edu 37 6 56880084 56880084 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:56880084C>T ENST00000370746.3 + 4 721 c.452C>T c.(451-453)tCt>tTt p.S151F BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000545789.1_Missense_Mutation_p.S53F NM_152731.2 NP_689944.2 Q5SZJ8 BEND6_HUMAN BEN domain containing 6 151 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 17 TGCAGTAATTCTAATTCTAAC 0.458000 20 23 0 0 0.008871 0 0 UBA6 55236 broad.mit.edu 37 4 68490785 68490785 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:68490785C>A ENST00000322244.4 - 29 2698 c.2639G>T c.(2638-2640)cGt>cTt p.R880L NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 880 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 TGTTTTGAAACGGTCAGCTGG 0.363000 12 33 1.08611e-07 1.43448e-07 0.010729 1 0 PRDM14 63978 broad.mit.edu 37 8 70981566 70981566 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:70981566T>A ENST00000276594.2 - 2 731 c.530A>T c.(529-531)cAg>cTg p.Q177L NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) ATCCTCTGACTGCTTGCTGGG 0.567000 17 42 0 0 0.004007 0 0 CDH9 1007 broad.mit.edu 37 5 26915805 26915805 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:26915805G>C ENST00000231021.4 - 3 628 c.456C>G c.(454-456)atC>atG p.I152M NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 152 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.I152I(1) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 CATTGTCATTGATATCATGTA 0.373000 49 56 0 0 0.003610 0 0 ZNF536 9745 broad.mit.edu 37 19 31040290 31040290 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:31040290C>A ENST00000355537.3 + 4 3911 c.3764C>A c.(3763-3765)cCc>cAc p.P1255H NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1255 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GAGCGGGGGCCCCAGAGCCTG 0.597000 14 32 3.27435e-08 4.40778e-08 0.002450 1 0 PEAR1 375033 broad.mit.edu 37 1 156876502 156876502 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:156876502C>A ENST00000338302.3 + 7 699 c.474C>A c.(472-474)ccC>ccA p.P158P PEAR1_ENST00000292357.7_Silent_p.P158P Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 158 integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CGTGTGATCCCAAGAGTGGGG 0.627000 68 69 2.92363e-43 5.70244e-43 0.003610 1 0 RPAP1 26015 broad.mit.edu 37 15 41820194 41820194 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:41820194G>C ENST00000304330.4 - 11 1408 c.1292C>G c.(1291-1293)gCa>gGa p.A431G RPAP1_ENST00000561603.1_Missense_Mutation_p.A431G|RPAP1_ENST00000568413.1_5'UTR NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 431 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GACACTGCCTGCTAGCCGGTC 0.542000 3 16 0 0 0.009096 0 0 LILRA1 11024 broad.mit.edu 37 19 55106637 55106637 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:55106637A>G ENST00000453777.1 + 5 601 c.431A>G c.(430-432)cAt>cGt p.H144R LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.H144R|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 144 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GTGACCCTCCATTGTGTCTCA 0.542000 21 136 0 0 0.002299 0 0 MUC17 140453 broad.mit.edu 37 7 100696348 100696348 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:100696348G>A ENST00000306151.4 + 10 13249 c.13185G>A c.(13183-13185)gtG>gtA p.V4395V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4395 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACGGCCTCGTGGGGGCAGGGG 0.597000 13 64 0 0 0.001368 0 0 SP100 6672 broad.mit.edu 37 2 231308915 231308915 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:231308915A>T ENST00000264052.5 + 4 648 c.293A>T c.(292-294)aAc>aTc p.N98I SP100_ENST00000409341.1_Missense_Mutation_p.N98I|SP100_ENST00000341950.4_Missense_Mutation_p.N98I|SP100_ENST00000340126.4_Missense_Mutation_p.N98I|SP100_ENST00000409112.1_Missense_Mutation_p.N98I|SP100_ENST00000409824.1_Missense_Mutation_p.N73I|SP100_ENST00000427101.2_Missense_Mutation_p.N73I|SP100_ENST00000409897.1_Missense_Mutation_p.N63I NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 98 HSR. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|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) TCTTGTAGAAACCTGGTCCCT 0.383000 11 60 0 0 0.010729 0 0 CHRM4 1132 broad.mit.edu 37 11 46406886 46406886 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:46406886C>A ENST00000433765.2 - 1 1221 c.1222G>T c.(1222-1224)Gcc>Tcc p.A408S NM_000741.2 NP_000732.2 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 408 cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) AGGATGAAGGCTAGCAGAATG 0.597000 17 29 3.45872e-05 4.08816e-05 0.004007 1 0 KRTAP10-9 386676 broad.mit.edu 37 21 46047279 46047279 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr21:46047279C>T ENST00000397911.3 + 1 240 c.191C>T c.(190-192)cCc>cTc p.P64L TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron NM_198690.2 NP_941963.2 P60411 KR109_HUMAN keratin associated protein 10-9 64 25 X 5 AA repeats of C-C-X(3). keratin filament endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 ACCTGTGAGCCCAGCCCCTGC 0.697000 23 142 0 0 0.002780 0 0 USP34 9736 broad.mit.edu 37 2 61575333 61575333 + Missense_Mutation SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:61575333T>C ENST00000398571.2 - 15 2033 c.1957A>G c.(1957-1959)Att>Gtt p.I653V NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 653 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) CCCAGGCAAATGCCTGCTTGA 0.458000 6 41 0 0 0.001168 0 0 KCNH8 131096 broad.mit.edu 37 3 19575056 19575056 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:19575056C>A ENST00000328405.2 + 16 3055 c.2789C>A c.(2788-2790)gCa>gAa p.A930E NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 930 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 AGCTGGAGTGCACACCAGCCT 0.527000 4 76 0.00909568 0.00959846 0.009096 1 0 WASF3 10810 broad.mit.edu 37 13 27259977 27259977 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr13:27259977G>A ENST00000361042.4 + 10 1720 c.1495G>A c.(1495-1497)Gac>Aac p.D499N WASF3_ENST00000335327.5_Missense_Mutation_p.D502N Q9UPY6 WASF3_HUMAN WAS protein family, member 3 502 actin filament polymerization cytoplasm|cytoskeleton actin binding p.D502N(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CGACTGGTCCGACTGAGCAAA 0.572000 6 32 0 0 0.004482 0 0 RNF216 54476 broad.mit.edu 37 7 5760761 5760761 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:5760761T>A ENST00000425013.2 - 9 1600 c.1376A>T c.(1375-1377)aAg>aTg p.K459M RNF216_ENST00000389902.3_Missense_Mutation_p.K516M NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 459 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) ATGTCGTCGCTTATTTTCAAG 0.428000 29 62 0 0 0.005443 0 0 TLR4 7099 broad.mit.edu 37 9 120476646 120476646 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:120476646G>T ENST00000355622.6 + 3 2341 c.2240G>T c.(2239-2241)tGt>tTt p.C747F TLR4_ENST00000394487.4_Missense_Mutation_p.C707F|TLR4_ENST00000472304.1_3'UTR NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 747 TIR. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 AGCCGCTGGTGTATCTTTGAA 0.507000 4 68 0.00024832 0.000280361 0.009096 1 0 CDH17 1015 broad.mit.edu 37 8 95189922 95189922 + Missense_Mutation SNP A A C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:95189922A>C ENST00000027335.3 - 4 302 c.178T>G c.(178-180)Ttt>Gtt p.F60V CDH17_ENST00000441892.2_Missense_Mutation_p.F60V|CDH17_ENST00000450165.2_Missense_Mutation_p.F60V NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 60 Cadherin 1. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) GTTAGTTCAAAAGTCACAGCA 0.403000 22 43 0 0 0.010504 0 0 UNC79 57578 broad.mit.edu 37 14 94063707 94063707 + Nonsense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr14:94063707G>T ENST00000553484.1 + 24 3347 c.3193G>T c.(3193-3195)Gaa>Taa p.E1065* UNC79_ENST00000555664.1_Nonsense_Mutation_p.E1065*|UNC79_ENST00000393151.2_Nonsense_Mutation_p.E1065*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.E888* Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1065 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CATTGCAGTGGAAAAAGTTGC 0.423000 11 43 1.58986e-06 1.99525e-06 0.008291 1 0 XPNPEP2 7512 broad.mit.edu 37 X 128873207 128873207 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:128873207G>T ENST00000371106.3 + 1 210 c.18G>T c.(16-18)tgG>tgT p.W6C XPNPEP2_ENST00000371105.3_Missense_Mutation_p.W6C NM_003399.5 NP_003390.4 O43895 XPP2_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound 6 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 37 GGGCTCACTGGGGCTGCTGCC 0.637000 8 251 2.17888e-05 2.58025e-05 0.006214 1 0 GRM1 2911 broad.mit.edu 37 6 146351126 146351126 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:146351126G>A ENST00000392299.2 + 2 943 c.473G>A c.(472-474)gGa>gAa p.G158E GRM1_ENST00000355289.4_Missense_Mutation_p.G158E|GRM1_ENST00000282753.1_Missense_Mutation_p.G158E|GRM1_ENST00000492807.2_Missense_Mutation_p.G158E|GRM1_ENST00000507907.1_Missense_Mutation_p.G158E|GRM1_ENST00000361719.2_Missense_Mutation_p.G158E Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 158 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCCATTGCGGGAGTGATCGGT 0.572000 4 81 0 0 0.009096 0 0 PPP1R18 170954 broad.mit.edu 37 6 30653751 30653751 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:30653751G>T ENST00000274853.3 - 1 1921 c.45C>A c.(43-45)cgC>cgA p.R15R PPP1R18_ENST00000399199.3_Silent_p.R15R|PPP1R18_ENST00000488324.1_Intron NM_133471.3 NP_597728.1 Q6NYC8 PHTNS_HUMAN protein phosphatase 1, regulatory subunit 18 15 cytoplasm|cytoskeleton actin binding CCTCCTGCCGGCGCCGGGCTA 0.662000 45 186 2.0833e-19 3.72863e-19 0.003610 1 0 KLHL36 79786 broad.mit.edu 37 16 84691417 84691417 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr16:84691417G>T ENST00000564996.1 + 3 1145 c.1004G>T c.(1003-1005)cGg>cTg p.R335L KLHL36_ENST00000258157.5_Missense_Mutation_p.R335L NM_024731.2 NP_079007.2 Q8N4N3 KLH36_HUMAN kelch-like family member 36 335 endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 CCCGCCCGGCGGAGCCACCAC 0.652000 5 12 3.59834e-05 4.22151e-05 0.001168 1 0 POSTN 10631 broad.mit.edu 37 13 38166303 38166303 + Splice_Site SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr13:38166303T>A ENST00000379747.4 - 3 336 c.e3-2 POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000541179.1_Splice_Site|POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000379743.4_Splice_Site NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) AACACAGTCCTGTACATAGGA 0.289000 7 18 0 0 0.001984 0 0 PCF11 51585 broad.mit.edu 37 11 82868580 82868580 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:82868580C>A ENST00000298281.4 + 1 551 c.99C>A c.(97-99)agC>agA p.S33R NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 33 CID. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 CCTTCAATAGCAAGCCGCACA 0.587000 11 96 4.68919e-08 6.28551e-08 0.008291 1 0 FBXO15 201456 broad.mit.edu 37 18 71796748 71796748 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:71796748A>G ENST00000269500.5 - 5 784 c.449T>C c.(448-450)gTt>gCt p.V150A FBXO15_ENST00000419743.2_Missense_Mutation_p.V226A NM_152676.2 NP_689889.1 Q8NCQ5 FBX15_HUMAN F-box protein 15 150 autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) ATACCATATAACAGTAACTGA 0.368000 7 35 0 0 0.003080 0 0 FAR2 55711 broad.mit.edu 37 12 29464033 29464033 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:29464033G>C ENST00000182377.4 + 7 1109 c.841G>C c.(841-843)Gtc>Ctc p.V281L FAR2_ENST00000547116.1_Missense_Mutation_p.V184L|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Missense_Mutation_p.V281L NM_018099.3 NP_060569.3 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 281 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 AGTTGATACAGTCGTCAATCT 0.438000 33 133 0 0 0.003271 0 0 ADCY1 107 broad.mit.edu 37 7 45650033 45650033 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:45650033A>G ENST00000297323.7 + 3 867 c.845A>G c.(844-846)gAc>gGc p.D282G ADCY1_ENST00000432715.1_Missense_Mutation_p.D57G NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 282 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) ATGAAGGAGGACTTCCTGAAG 0.612000 43 117 0 0 0.003610 0 0 OR51A4 401666 broad.mit.edu 37 11 4967809 4967809 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:4967809G>T ENST00000380373.2 - 1 547 c.522C>A c.(520-522)aaC>aaA p.N174K MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GGGATAATTGGTTTTTCTTGC 0.418000 42 249 6.45866e-13 1.01218e-12 0.008740 1 0 PMFBP1 83449 broad.mit.edu 37 16 72153719 72153719 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr16:72153719C>A ENST00000537465.1 - 20 3211 c.3053G>T c.(3052-3054)tGt>tTt p.C1018F PMFBP1_ENST00000237353.10_Intron|PMFBP1_ENST00000355636.6_Intron|PMFBP1_ENST00000537792.1_Intron Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 1018 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) AAAAAAATCACACTTATTTTT 0.433000 3 37 0.004672 0.00501424 0.004672 1 0 NLRP12 91662 broad.mit.edu 37 19 54308698 54308698 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:54308698C>A ENST00000324134.6 - 5 2418 c.2250G>T c.(2248-2250)aaG>aaT p.K750N NLRP12_ENST00000391773.1_Missense_Mutation_p.K751N|NLRP12_ENST00000351894.4_Missense_Mutation_p.K750N|NLRP12_ENST00000354278.3_Missense_Mutation_p.K750N|NLRP12_ENST00000391772.1_Missense_Mutation_p.K751N|NLRP12_ENST00000535162.1_Missense_Mutation_p.K750N|NLRP12_ENST00000391775.3_Missense_Mutation_p.K750N|NLRP12_ENST00000345770.5_Missense_Mutation_p.K751N NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 750 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TGCGGCACCTCTTCAGCCTGG 0.463000 15 75 4.93089e-13 7.78562e-13 0.002450 1 0 LRRC7 57554 broad.mit.edu 37 1 70504765 70504765 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:70504765A>G ENST00000310961.5 + 22 3577 c.3159A>G c.(3157-3159)atA>atG p.I1053M LRRC7_ENST00000415775.2_Missense_Mutation_p.I332M|LRRC7_ENST00000035383.5_Missense_Mutation_p.I1048M Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1048 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AAAAGAGGATACCACCCCCTT 0.448000 8 31 0 0 0.008291 0 0 SLC9C2 284525 broad.mit.edu 37 1 173569280 173569280 + Silent SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:173569280T>A ENST00000367714.3 - 3 626 c.204A>T c.(202-204)ggA>ggT p.G68G SLC9C2_ENST00000536496.1_Intron|RP3-436N22.3_ENST00000431459.1_RNA NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 68 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity AGGCCATGTGTCCTATCACGA 0.343000 30 30 0 0 0.004289 0 0 MROH2B 133558 broad.mit.edu 37 5 41008745 41008745 + Nonsense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:41008745G>A ENST00000399564.4 - 33 4021 c.3571C>T c.(3571-3573)Cag>Tag p.Q1191* MROH2B_ENST00000506092.2_Nonsense_Mutation_p.Q746* NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TCTCCCTGCTGCATCACATGC 0.562000 44 61 0 0 0.003610 0 0 ATXN3L 92552 broad.mit.edu 37 X 13337276 13337276 + Nonsense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:13337276C>A ENST00000380622.2 - 1 1242 c.778G>T c.(778-780)Gga>Tga p.G260* GS1-600G8.3_ENST00000431486.1_RNA NM_001135995.1 NP_001129467.1 Q9H3M9 ATX3L_HUMAN ataxin 3-like 260 protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 GATGTGTTTCCGGAACTACCT 0.428000 10 330 1.58986e-06 1.99525e-06 0.008291 1 0 RPTOR 57521 broad.mit.edu 37 17 78931471 78931471 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:78931471A>T ENST00000306801.3 + 29 3780 c.3418A>T c.(3418-3420)Agc>Tgc p.S1140C RPTOR_ENST00000544334.2_Missense_Mutation_p.S982C|RPTOR_ENST00000575542.1_3'UTR NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 1140 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 CCTCCTCATGAGCTCAGGAGA 0.632000 23 125 0 0 0.002780 0 0 FGF12 2257 broad.mit.edu 37 3 191888365 191888365 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:191888365G>A ENST00000454309.2 - 4 1320 c.495C>T c.(493-495)cgC>cgT p.R165R FGF12_ENST00000450716.1_Silent_p.R103R|FGF12_ENST00000264730.3_Silent_p.R103R|FGF12_ENST00000445105.1_Silent_p.R103R|FGF12_ENST00000430714.1_Silent_p.R66R NM_021032.4 NP_066360.1 P61328 FGF12_HUMAN fibroblast growth factor 12 165 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) ATTCTTGCTGGCGGTACAGTG 0.393000 41 144 0 0 0.006230 0 0 SLC34A1 6569 broad.mit.edu 37 5 176823992 176823992 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:176823992C>A ENST00000324417.5 + 12 1424 c.1333C>A c.(1333-1335)Ctg>Atg p.L445M SLC34A1_ENST00000513614.1_3'UTR NM_003052.4 NP_003043.3 Q06495 NPT2A_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 1 445 phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCGCTCACACTGGGTTCCAA 0.647000 30 27 1.68575e-08 2.29876e-08 0.007291 1 0 TMEM206 55248 broad.mit.edu 37 1 212553283 212553283 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:212553283C>T ENST00000261455.4 - 5 729 c.592G>A c.(592-594)Gcc>Acc p.A198T TMEM206_ENST00000535273.1_Missense_Mutation_p.A259T NM_018252.2 NP_060722.2 Q9H813 TM206_HUMAN transmembrane protein 206 198 integral to membrane breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 17 all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148) TAATCAATGGCGCTGAAGTCC 0.502000 9 96 0 0 0.006214 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130218253 130218253 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:130218253A>T ENST00000276211.5 + 5 965 c.620A>T c.(619-621)cAg>cTg p.Q207L ARHGAP36_ENST00000370921.1_Missense_Mutation_p.Q71L|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.Q195L NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 207 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 CAGACCCTGCAGCTTTCAAAA 0.478000 54 35 0 0 0.003610 0 0 JAK3 3718 broad.mit.edu 37 19 17955088 17955088 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:17955088C>A ENST00000458235.1 - 2 238 c.139G>T c.(139-141)Gac>Tac p.D47Y JAK3_ENST00000527670.1_Missense_Mutation_p.D47Y|JAK3_ENST00000534444.1_Missense_Mutation_p.D47Y|JAK3_ENST00000526008.1_5'UTR NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 47 FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity). B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 GCCAAGTGGTCCCCAAAGGAG 0.677000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 8 10 0.00448238 0.00484374 0.004482 1 0 RNF113A 7737 broad.mit.edu 37 X 119005497 119005497 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:119005497G>T ENST00000371442.2 - 1 294 c.80C>A c.(79-81)gCt>gAt p.A27D NDUFA1_ENST00000371437.4_5'UTR NM_006978.2 NP_008909.1 O15541 R113A_HUMAN ring finger protein 113A 27 nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6) 15 GCGTCCAGCAGCCCCTTTCCG 0.597000 28 130 4.59853e-10 6.62946e-10 0.005443 1 0 DSCAM 1826 broad.mit.edu 37 21 41459132 41459132 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr21:41459132C>A ENST00000400454.1 - 22 4410 c.3933G>T c.(3931-3933)ggG>ggT p.G1311G NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1311 Ig-like C2-type 10. 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 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) GAGAAGGGTCCCCAACAGCCT 0.468000 8 95 1.12685e-05 1.36522e-05 0.004482 1 0 HDAC9 9734 broad.mit.edu 37 7 18688117 18688117 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:18688117C>T ENST00000406451.3 + 11 1419 c.1269C>T c.(1267-1269)ccC>ccT p.P423P HDAC9_ENST00000401921.1_Silent_p.P382P|HDAC9_ENST00000524023.1_Silent_p.P346P|HDAC9_ENST00000417496.2_Silent_p.P421P|HDAC9_ENST00000441542.2_Silent_p.P426P|HDAC9_ENST00000428307.2_Silent_p.P379P|HDAC9_ENST00000406072.1_Silent_p.P410P|HDAC9_ENST00000405010.3_Silent_p.P423P|HDAC9_ENST00000432645.2_Silent_p.P423P|HDAC9_ENST00000456174.2_Silent_p.P395P NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 423 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) CTCAGTCTCCCTTGGCAACAA 0.453000 18 98 0 0 0.008871 0 0 ANK2 287 broad.mit.edu 37 4 114278492 114278492 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:114278492G>T ENST00000357077.4 + 38 8771 c.8718G>T c.(8716-8718)atG>atT p.M2906I ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.M2873I|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2873 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) GATTTTCCATGGATGTTCCCG 0.398000 34 106 2.20474e-14 3.5891e-14 0.003755 1 0 CARD11 84433 broad.mit.edu 37 7 2976714 2976714 + Missense_Mutation SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:2976714C>G ENST00000396946.4 - 9 1701 c.1298G>C c.(1297-1299)aGc>aCc p.S433T NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 433 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CCGCAGCTTGCTCTCCAGGTT 0.642000 Mis DLBCL 21 47 0 0 0.002299 0 0 STARD8 9754 broad.mit.edu 37 X 67940175 67940175 + Silent SNP A A C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:67940175A>C ENST00000252336.6 + 7 2091 c.1719A>C c.(1717-1719)ccA>ccC p.P573P STARD8_ENST00000374599.3_Silent_p.P653P|STARD8_ENST00000374597.3_Silent_p.P573P NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 573 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity p.P573P(4)|p.P653P(2) NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 TTGGGGTGCCACCCCTCATCC 0.577000 4 16 0 0 0.001168 0 0 MAGEB4 4115 broad.mit.edu 37 X 30261111 30261111 + Nonsense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:30261111G>T ENST00000378982.2 + 1 1055 c.859G>T c.(859-861)Gag>Tag p.E287* NM_002367.3 NP_002358.1 O15481 MAGB4_HUMAN melanoma antigen family B, 4 287 MAGE. breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 GAAAGTCCTGGAGTTTTTGGC 0.512000 26 59 6.32553e-13 9.93787e-13 0.004656 1 0 CTR9 9646 broad.mit.edu 37 11 10791812 10791812 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:10791812A>G ENST00000361367.2 + 17 2591 c.2165A>G c.(2164-2166)tAt>tGt p.Y722C NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component 722 histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) GTTGTACTCTATTTGGCCCGG 0.378000 11 59 0 0 0.010729 0 0 ERN2 10595 broad.mit.edu 37 16 23703537 23703537 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr16:23703537G>T ENST00000256797.4 - 18 2528 c.2360C>A c.(2359-2361)cCc>cAc p.P787H ERN2_ENST00000457008.2_Missense_Mutation_p.P687H NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 739 KEN. apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) AGCCAGACAGGGAGCCCCTGT 0.602000 58 66 3.40343e-31 6.5172e-31 0.003610 1 0 OR14J1 442191 broad.mit.edu 37 6 29274893 29274893 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:29274893G>T ENST00000377160.2 + 1 491 c.427G>T c.(427-429)Gtg>Ttg p.V143L NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 TAGGCATGCAGTGATAGCTGT 0.488000 101 105 1.7666e-45 3.45639e-45 0.003610 1 0 DSC2 1824 broad.mit.edu 37 18 28648987 28648987 + Missense_Mutation SNP G G A rs1617629 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:28648987G>A ENST00000280904.6 - 15 2824 c.2381C>T c.(2380-2382)tCg>tTg p.S794L DSC2_ENST00000251081.6_Missense_Mutation_p.S794L NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 794 homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) GCAGGATTCCGAGGTCTGGTG 0.592000 11 62 0 0 0.008291 0 0 PRSS22 64063 broad.mit.edu 37 16 2903323 2903323 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr16:2903323G>A ENST00000161006.3 - 6 790 c.725C>T c.(724-726)tCc>tTc p.S242F PRSS22_ENST00000571228.1_Missense_Mutation_p.S132F NM_022119.3 NP_071402.1 Q9GZN4 BSSP4_HUMAN protease, serine, 22 242 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2) 10 GGGGCCCCCGGAGTCGCCCTG 0.711000 9 21 0 0 0.006214 0 0 HIVEP2 3097 broad.mit.edu 37 6 143091866 143091866 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:143091866C>T ENST00000367603.2 - 5 4752 c.4010G>A c.(4009-4011)cGg>cAg p.R1337Q HIVEP2_ENST00000012134.2_Missense_Mutation_p.R1337Q|HIVEP2_ENST00000367604.1_Missense_Mutation_p.R1337Q NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1337 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R1337Q(1) NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) CGTCTGGATCCGAACAGGAAC 0.488000 15 66 0 0 0.002450 0 0 VANGL1 81839 broad.mit.edu 37 1 116206606 116206606 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:116206606G>C ENST00000355485.2 + 4 800 c.529G>C c.(529-531)Gct>Cct p.A177P VANGL1_ENST00000310260.3_Missense_Mutation_p.A177P|VANGL1_ENST00000369510.3_Missense_Mutation_p.A175P|VANGL1_ENST00000369509.1_Missense_Mutation_p.A177P NM_001172411.1|NM_138959.2 NP_001165882.1|NP_620409.1 Q8TAA9 VANG1_HUMAN VANGL planar cell polarity protein 1 177 multicellular organismal development integral to membrane protein binding p.F171fs*93(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1) 27 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) CAAGCGGAGAGCTGACATGCC 0.488000 22 129 0 0 0.002780 0 0 RYR1 6261 broad.mit.edu 37 19 39038899 39038899 + Missense_Mutation SNP C C T rs144685735 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:39038899C>T ENST00000355481.4 + 88 12237 c.12106C>T c.(12106-12108)Cgg>Tgg p.R4036W RYR1_ENST00000359596.3_Missense_Mutation_p.R4041W|RYR1_ENST00000360985.3_Missense_Mutation_p.R4036W NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 4041 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CATGATCGCCCGGCAGATGGT 0.572000 11 76 0 0 0.001368 0 0 NID1 4811 broad.mit.edu 37 1 236175324 236175324 + Silent SNP T T G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:236175324T>G ENST00000264187.6 - 12 2506 c.2424A>C c.(2422-2424)ccA>ccC p.P808P NID1_ENST00000366595.3_Intron NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 808 EGF-like 5; calcium-binding (Potential). cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GACATCGGCTTGGCTGGCATT 0.507000 4 66 0 0 0.001168 0 0 WDR63 126820 broad.mit.edu 37 1 85547055 85547055 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:85547055G>T ENST00000294664.6 + 4 422 c.242G>T c.(241-243)aGa>aTa p.R81I WDR63_ENST00000326813.8_Missense_Mutation_p.R81I|WDR63_ENST00000370596.1_Missense_Mutation_p.R81I NM_145172.3 NP_660155.2 Q8IWG1 WDR63_HUMAN WD repeat domain 63 81 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3) 36 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) CTGCGCAACAGAGCTGCAGTA 0.378000 9 36 1.12685e-05 1.36522e-05 0.004482 1 0 PROS1 5627 broad.mit.edu 37 3 93619740 93619740 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:93619740C>A ENST00000394236.3 - 7 951 c.635G>T c.(634-636)tGt>tTt p.C212F PROS1_ENST00000407433.1_Missense_Mutation_p.C81F NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 212 EGF-like 3; calcium-binding (Potential). leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) AGCTGTGCCACAAATGCTTGG 0.388000 6 35 8.12818e-05 9.34445e-05 0.001984 1 0 KRT16P3 644945 broad.mit.edu 37 17 20407395 20407395 + RNA SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:20407395C>A ENST00000580113.1 - 0 252 TCACTGCCCACCAGAAGCCCA 0.632000 41 46 2.41709e-19 4.31379e-19 0.003610 1 0 LPIN1 23175 broad.mit.edu 37 2 11943039 11943039 + Missense_Mutation SNP G G T rs145608684 byFrequency TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:11943039G>T ENST00000256720.2 + 14 1878 c.1785G>T c.(1783-1785)aaG>aaT p.K595N LPIN1_ENST00000425416.2_Missense_Mutation_p.K601N|LPIN1_ENST00000396097.1_Missense_Mutation_p.K325N|LPIN1_ENST00000396099.1_Missense_Mutation_p.K637N|LPIN1_ENST00000449576.2_Missense_Mutation_p.K680N|LPIN1_ENST00000404113.2_Missense_Mutation_p.K96N NM_145693.2 NP_663731.1 Q14693 LPIN1_HUMAN lipin 1 595 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) CCAGGGTAAAGCATGAATCAT 0.468000 7 252 1.26484e-09 1.80692e-09 0.003080 1 0 FAM212A 389119 broad.mit.edu 37 3 49841780 49841780 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:49841780T>A ENST00000333323.4 + 2 357 c.224T>A c.(223-225)gTg>gAg p.V75E NM_203370.1 NP_976248.1 Q96EL1 CC054_HUMAN family with sequence similarity 212, member A 73 gaggaAGCAGTGGTGACAGAA 0.627000 16 46 0 0 0.003163 0 0 MTOR 2475 broad.mit.edu 37 1 11182094 11182094 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:11182094C>T ENST00000361445.4 - 48 6828 c.6752G>A c.(6751-6753)cGg>cAg p.R2251Q MTOR_ENST00000376838.1_Missense_Mutation_p.R456Q NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 2251 PI3K/PI4K. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 CCTGTAGTCCCGGATGAGGGC 0.577000 14 79 0 0 0.003163 0 0 MRGPRX3 117195 broad.mit.edu 37 11 18159074 18159074 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:18159074G>T ENST00000396275.2 + 3 686 c.325G>T c.(325-327)Ggc>Tgc p.G109C NM_054031.3 NP_473372.3 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 109 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 CTACTTTATAGGCCTAAGCAT 0.547000 35 160 3.38236e-24 6.2858e-24 0.006999 1 0 SYNPO2 171024 broad.mit.edu 37 4 119978927 119978927 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:119978927C>A ENST00000307142.4 + 5 3820 c.3624C>A c.(3622-3624)tcC>tcA p.S1208S SYNPO2_ENST00000448416.2_3'UTR NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 0 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 ATAATATGTCCACCACCTCCC 0.413000 17 52 1.15088e-07 1.51685e-07 0.004007 1 0 UGT1A9 54600 broad.mit.edu 37 2 234580712 234580712 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:234580712G>T ENST00000354728.4 + 1 214 c.132G>T c.(130-132)gtG>gtT p.V44V UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron NM_021027.2 NP_066307.1 breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 37 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) TGAGGTCGGTGGTGGAGAAAC 0.532000 14 67 7.93312e-07 1.00967e-06 0.002450 1 0 HOXA5 3202 broad.mit.edu 37 7 27182927 27182927 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:27182927C>A ENST00000222726.3 - 1 360 c.300G>T c.(298-300)ccG>ccT p.P100P HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA3_ENST00000467897.2_Intron NM_019102.3 NP_061975.2 P20719 HXA5_HUMAN homeobox A5 100 negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1) 16 AGCAGGGCAGCGGATCGGGCT 0.751000 10 21 7.48243e-07 9.56172e-07 0.006214 1 0 TRPM7 54822 broad.mit.edu 37 15 50899520 50899520 + Silent SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:50899520T>C ENST00000313478.7 - 20 2867 c.2586A>G c.(2584-2586)gcA>gcG p.A862A TRPM7_ENST00000560955.1_Silent_p.A862A NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 862 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) ATCCTAAATATGCCAACTAAT 0.264000 14 32 0 0 0.001855 0 0 GTPBP10 85865 broad.mit.edu 37 7 89982211 89982211 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:89982211G>T ENST00000222511.6 + 2 181 c.115G>T c.(115-117)Ggt>Tgt p.G39C GTPBP10_ENST00000257659.8_Missense_Mutation_p.G39C NM_033107.3 NP_149098.2 A4D1E9 GTPBA_HUMAN GTP-binding protein 10 (putative) 39 ribosome biogenesis chromosome|nucleolus GTP binding|GTPase activity|magnesium ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(4) 10 AGGTGGAGAAGGTGGAAAAGG 0.433000 16 28 6.94344e-10 9.98714e-10 0.006122 1 0 PTPRT 11122 broad.mit.edu 37 20 40980762 40980762 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr20:40980762C>A ENST00000373198.3 - 10 1959 c.1724G>T c.(1723-1725)gGg>gTg p.G575V PTPRT_ENST00000373201.1_Missense_Mutation_p.G575V|PTPRT_ENST00000373184.1_Missense_Mutation_p.G575V|PTPRT_ENST00000373190.1_Missense_Mutation_p.G575V|PTPRT_ENST00000373193.3_Missense_Mutation_p.G575V|PTPRT_ENST00000373187.1_Missense_Mutation_p.G575V|PTPRT_ENST00000356100.2_Missense_Mutation_p.G575V NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 575 Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GACAGGGGGCCCAAAGCCCTT 0.502000 19 66 7.21436e-19 1.2767e-18 0.008871 1 0 KRT36 8689 broad.mit.edu 37 17 39645847 39645847 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:39645847G>T ENST00000393986.2 - 2 332 c.120C>A c.(118-120)aaC>aaA p.N40K KRT36_ENST00000328119.6_Missense_Mutation_p.N90K O76013 KRT36_HUMAN keratin 36 90 Head. intermediate filament protein binding|structural constituent of epidermis breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) TCTCGCTGCCGTTGAAGGAGC 0.632000 28 113 2.08457e-15 3.46511e-15 0.010818 1 0 MAGEC2 51438 broad.mit.edu 37 X 141291176 141291176 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:141291176C>A ENST00000247452.3 - 3 945 c.598G>T c.(598-600)Gtg>Ttg p.V200L NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 200 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) TCAGGGCCCACTTCTATCAGG 0.478000 HNSCC(46;0.14) 184 121 3.73429e-81 7.46859e-81 0.003610 1 0 BRSK2 9024 broad.mit.edu 37 11 1466580 1466580 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:1466580G>A ENST00000308219.9 + 10 1255 c.869G>A c.(868-870)cGc>cAc p.R290H BRSK2_ENST00000531197.1_Missense_Mutation_p.R290H|BRSK2_ENST00000308230.5_Missense_Mutation_p.R290H|BRSK2_ENST00000382179.1_Missense_Mutation_p.R336H|BRSK2_ENST00000526678.1_Missense_Mutation_p.R290H|BRSK2_ENST00000528710.1_Missense_Mutation_p.R230H|BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000528841.1_Missense_Mutation_p.R290H NM_001256627.1|NM_003957.3 NP_001243556.1|NP_003948.2 Q8IWQ3 BRSK2_HUMAN BR serine/threonine kinase 2 290 establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(1)|lung(5) 10 all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842) GTGCAGATCCGCTCGCTGCCC 0.657000 6 48 0 0 0.001984 0 0 HPSE2 60495 broad.mit.edu 37 10 100481549 100481549 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:100481549A>G ENST00000370552.3 - 5 880 c.821T>C c.(820-822)gTa>gCa p.V274A HPSE2_ENST00000370549.1_Missense_Mutation_p.V216A|HPSE2_ENST00000370546.1_Missense_Mutation_p.V274A|HPSE2_ENST00000404542.1_Missense_Mutation_p.V162A NM_021828.4 NP_068600.4 Q8WWQ2 HPSE2_HUMAN heparanase 2 274 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 40 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) GCTGCCATTTACTGCCCGGCC 0.468000 11 42 0 0 0.001368 0 0 MASP1 5648 broad.mit.edu 37 3 186943230 186943230 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:186943230G>T ENST00000337774.5 - 13 2012 c.1623C>A c.(1621-1623)caC>caA p.H541Q NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 541 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CATACTGGGGGTGGAGAGTGG 0.547000 20 105 1.96292e-10 2.88935e-10 0.010504 1 0 OR6C3 254786 broad.mit.edu 37 12 55725826 55725826 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:55725826C>A ENST00000379667.1 + 1 342 c.342C>A c.(340-342)gcC>gcA p.A114A NM_054104.1 NP_473445.1 Q9NZP0 OR6C3_HUMAN olfactory receptor, family 6, subfamily C, member 3 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 TTTTAACTGCCATGTCCTATG 0.423000 20 105 1.33834e-09 1.90328e-09 0.007413 1 0 PTPN7 5778 broad.mit.edu 37 1 202128594 202128594 + Silent SNP G G T rs150883460 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:202128594G>T ENST00000367279.4 - 1 525 c.54C>A c.(52-54)gcC>gcA p.A18A PTPN7_ENST00000309017.3_Intron|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000308986.5_Intron|PTPN7_ENST00000543735.1_Intron NM_080588.2 NP_542155.1 P35236 PTN7_HUMAN protein tyrosine phosphatase, non-receptor type 7 0 cytosol|internal side of plasma membrane protein binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1) 13 TGAAAGACAGGGCCCTCCGCT 0.637000 32 35 1.74807e-11 2.63465e-11 0.010818 1 0 NRG3 10718 broad.mit.edu 37 10 84733574 84733574 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:84733574G>C ENST00000372142.2 + 8 926 c.652G>C c.(652-654)Gca>Cca p.A218P NRG3_ENST00000556918.1_Missense_Mutation_p.A269P|NRG3_ENST00000545131.1_Missense_Mutation_p.A89P|NRG3_ENST00000372141.2_Missense_Mutation_p.A439P|NRG3_ENST00000404547.1_Missense_Mutation_p.A439P|NRG3_ENST00000404576.2_Missense_Mutation_p.A243P|NRG3_ENST00000537893.1_Missense_Mutation_p.A89P NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 439 Ser/Thr-rich. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) TCCTGTGACTGCATTGGAGAA 0.483000 24 51 0 0 0.003954 0 0 FRG1B 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 3 68 0 0 0.000602 0 0 RIMS1 22999 broad.mit.edu 37 6 73102455 73102455 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:73102455G>T ENST00000264839.7 + 27 4108 c.4108G>T c.(4108-4110)Gat>Tat p.D1370Y RIMS1_ENST00000520567.1_Missense_Mutation_p.D1171Y|RIMS1_ENST00000521978.1_Missense_Mutation_p.D1521Y|RIMS1_ENST00000517827.1_Missense_Mutation_p.D655Y|RIMS1_ENST00000518273.1_Missense_Mutation_p.D1200Y|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000517960.1_Missense_Mutation_p.D1304Y|RIMS1_ENST00000414192.2_Missense_Mutation_p.D48Y|RIMS1_ENST00000491071.2_Missense_Mutation_p.D1344Y|RIMS1_ENST00000425662.2_Missense_Mutation_p.D589Y|RIMS1_ENST00000401910.3_Missense_Mutation_p.D841Y|RIMS1_ENST00000538414.1_Missense_Mutation_p.D327Y|RIMS1_ENST00000523963.1_Missense_Mutation_p.D646Y|RIMS1_ENST00000348717.5_Missense_Mutation_p.D1304Y|RIMS1_ENST00000522291.1_Missense_Mutation_p.D1120Y Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1521 Ser-rich. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) TGATTTTCTTGATGGATTGGG 0.408000 19 43 2.89027e-11 4.30465e-11 0.002299 1 0 PPP6R1 22870 broad.mit.edu 37 19 55751251 55751251 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:55751251C>A ENST00000412770.2 - 13 2072 c.1506G>T c.(1504-1506)tgG>tgT p.W502C PPP6R1_ENST00000587283.1_Missense_Mutation_p.W502C NM_014931.3 NP_055746.3 Q9UPN7 PP6R1_HUMAN protein phosphatase 6, regulatory subunit 1 502 regulation of phosphoprotein phosphatase activity cytoplasm protein phosphatase binding breast(1) 1 CGAAGGCTTCCCACTGCTCCT 0.632000 11 30 1.5842e-08 2.17439e-08 0.001855 1 0 MTMR11 10903 broad.mit.edu 37 1 149907245 149907245 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:149907245G>C ENST00000439741.2 - 4 522 c.272C>G c.(271-273)cCc>cGc p.P91R MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Missense_Mutation_p.P91R|MTMR11_ENST00000406732.3_Missense_Mutation_p.P63R|MTMR11_ENST00000369140.3_Missense_Mutation_p.P19R NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 91 phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) ACTGTTCAAGGGAGTGTCCTA 0.532000 26 28 0 0 0.006320 0 0 TP53 7157 broad.mit.edu 37 17 7577536 7577536 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:7577536T>A ENST00000420246.2 - 7 877 c.745A>T c.(745-747)Agg>Tgg p.R249W TP53_ENST00000359597.4_Missense_Mutation_p.R249W|TP53_ENST00000413465.2_Missense_Mutation_p.R249W|TP53_ENST00000269305.4_Missense_Mutation_p.R249W|TP53_ENST00000445888.2_Missense_Mutation_p.R249W|TP53_ENST00000455263.2_Missense_Mutation_p.R249W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 249 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R249W(37)|p.R249G(30)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.R249R(1)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R248delNR(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.G245fs*14(1)|p.R249fs*15(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*19(1)|p.R249_I251delRPI(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGGATGGGCCTCCGGTTCATG 0.567000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 22 24 0 0 0.002780 0 0 VSX1 30813 broad.mit.edu 37 20 25056973 25056973 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr20:25056973G>T ENST00000376709.4 - 5 1285 c.1022C>A c.(1021-1023)cCt>cAt p.P341H VSX1_ENST00000451258.1_Intron|VSX1_ENST00000424574.1_Intron|VSX1_ENST00000429762.3_Intron|VSX1_ENST00000444511.2_Intron NM_014588.5 NP_055403.2 Q9NZR4 VSX1_HUMAN visual system homeobox 1 341 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(3)|lung(2) 6 ACCAGCCCCAGGGTGCACTTT 0.597000 12 58 5.16669e-11 7.67692e-11 0.010729 1 0 SLC16A7 9194 broad.mit.edu 37 12 60168655 60168655 + Silent SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:60168655C>G ENST00000261187.4 + 4 743 c.579C>G c.(577-579)tcC>tcG p.S193S SLC16A7_ENST00000547379.1_Silent_p.S193S|SLC16A7_ENST00000552024.1_Silent_p.S193S|SLC16A7_ENST00000543448.1_Silent_p.S94S|SLC16A7_ENST00000552432.1_Silent_p.S193S NM_001270622.1|NM_001270623.1|NM_004731.3 NP_001257551.1|NP_001257552.1|NP_004722.2 O60669 MOT2_HUMAN solute carrier family 16 (monocarboxylate transporter), member 7 193 integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1) 30 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) TGGCTGGTTCCCTCATGAGAC 0.408000 5 30 0 0 0.001168 0 0 BCL11A 53335 broad.mit.edu 37 2 60688990 60688990 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:60688990G>T ENST00000335712.6 - 4 1284 c.1057C>A c.(1057-1059)Ccc>Acc p.P353T BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.P353T|BCL11A_ENST00000538214.1_Missense_Mutation_p.P319T|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.P319T|BCL11A_ENST00000477659.1_5'UTR NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 353 Pro-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) GCCAGGAAGGGCGGCTTGCTA 0.647000 T IGH@ B-CLL 21 87 1.28384e-07 1.68504e-07 0.012319 1 0 DOCK2 1794 broad.mit.edu 37 5 169129338 169129338 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:169129338C>T ENST00000256935.8 + 14 1370 c.1290C>T c.(1288-1290)ctC>ctT p.L430L NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 430 DHR-1. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACATTACTCTCTTACAAGGTG 0.493000 OREG0017017 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 114 0 0 0.001168 0 0 GRM2 2912 broad.mit.edu 37 3 51746673 51746673 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:51746673C>A ENST00000395052.3 + 3 869 c.635C>A c.(634-636)tCt>tAt p.S212Y GRM2_ENST00000442933.2_Missense_Mutation_p.S212Y|GRM2_ENST00000475478.1_Intron NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 212 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) ACTGTGGCGTCTGAGGGCGAC 0.582000 20 57 2.4624e-09 3.46274e-09 0.008871 1 0 DNAH11 8701 broad.mit.edu 37 7 21784546 21784546 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:21784546G>C ENST00000328843.6 + 52 8427 c.8396G>C c.(8395-8397)aGa>aCa p.R2799T DNAH11_ENST00000409508.3_Missense_Mutation_p.R2792T Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2799 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TTTGCTGATAGAGGGAAGGAC 0.443000 Kartagener syndrome 7 17 0 0 0.001984 0 0 SLC5A8 160728 broad.mit.edu 37 12 101598296 101598296 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:101598296G>A ENST00000536262.2 - 2 957 c.399C>T c.(397-399)gtC>gtT p.V133V NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 133 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CAATGAAGAGGACTGTTCCAC 0.333000 11 21 0 0 0.010729 0 0 OR51B5 282763 broad.mit.edu 37 11 5364119 5364119 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:5364119G>A ENST00000300773.2 - 1 690 c.636C>T c.(634-636)atC>atT p.I212I AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_001005567.2 NP_001005567.2 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, member 5 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGAGATGAAGATAATCAGAT 0.468000 13 108 0 0 0.001368 0 0 TSKU 25987 broad.mit.edu 37 11 76506887 76506887 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:76506887C>T ENST00000527881.1 + 2 1253 c.227C>T c.(226-228)tCg>tTg p.S76L TSKU_ENST00000333090.4_Missense_Mutation_p.S76L Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 76 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) GTGAATGAGTCGGTGTTGGCG 0.637000 16 53 0 0 0.004007 0 0 ALPK2 115701 broad.mit.edu 37 18 56203989 56203989 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:56203989G>T ENST00000361673.3 - 5 3643 c.3430C>A c.(3430-3432)Cag>Aag p.Q1144K RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1144 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 GAACCCTGCTGGGACAGGCTC 0.522000 12 201 1.08611e-07 1.43448e-07 0.010729 1 0 TET3 200424 broad.mit.edu 37 2 74307667 74307667 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:74307667C>T ENST00000409262.3 + 3 2223 c.2223C>T c.(2221-2223)atC>atT p.I741I NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 741 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AGAAGGTCATCTACACGGGGA 0.557000 5 26 0 0 0.001168 0 0 IL1RAP 3556 broad.mit.edu 37 3 190362060 190362060 + Nonsense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:190362060G>T ENST00000412504.2 + 9 1327 c.1075G>T c.(1075-1077)Gaa>Taa p.E359* IL1RAP_ENST00000072516.3_Nonsense_Mutation_p.E359*|IL1RAP_ENST00000443369.2_Nonsense_Mutation_p.E359*|IL1RAP_ENST00000317757.3_Nonsense_Mutation_p.E359*|IL1RAP_ENST00000447382.1_Nonsense_Mutation_p.E359*|IL1RAP_ENST00000439062.1_Nonsense_Mutation_p.E359* Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein 359 inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) ATACACAGTGGAACTGGCTTG 0.473000 4 16 0.00909568 0.00959846 0.009096 1 0 RELN 5649 broad.mit.edu 37 7 103205900 103205900 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:103205900A>T ENST00000424685.2 - 34 5194 c.5035T>A c.(5035-5037)Tcc>Acc p.S1679T RELN_ENST00000343529.5_Missense_Mutation_p.S1679T|RELN_ENST00000428762.1_Missense_Mutation_p.S1679T P78509 RELN_HUMAN reelin 1679 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ACACTGTGGGAGTTGCTGAAG 0.478000 7 22 0 0 0.001984 0 0 NBPF22P 285622 broad.mit.edu 37 5 85578556 85578556 + RNA SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:85578556C>A ENST00000590707.1 + 0 279 NR_003719.2 CAGTCCCTGGCTCTACCTCTT 0.463000 22 95 0.000229342 0.000260804 0.012319 1 0 GRIK1 2897 broad.mit.edu 37 21 30953768 30953768 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr21:30953768C>A ENST00000399914.1 - 12 2365 c.1844G>T c.(1843-1845)gGa>gTa p.G615V GRIK1_ENST00000399913.1_Missense_Mutation_p.G630V|GRIK1_ENST00000327783.4_Missense_Mutation_p.G630V|GRIK1_ENST00000389125.3_Missense_Mutation_p.G615V|GRIK1_ENST00000399909.1_Missense_Mutation_p.G615V|GRIK1_ENST00000389124.2_Missense_Mutation_p.G630V|GRIK1_ENST00000399907.1_Missense_Mutation_p.G630V|GRIK1_ENST00000309434.7_Missense_Mutation_p.G632V|GRIK1_ENST00000535441.1_Missense_Mutation_p.G632V P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 630 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) AGCTCCAACTCCAAACCAGAA 0.483000 43 36 1.7489e-18 3.07768e-18 0.011902 1 0 PIK3R6 146850 broad.mit.edu 37 17 8732150 8732150 + Silent SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:8732150C>G ENST00000311434.9 - 11 1286 c.1047G>C c.(1045-1047)ggG>ggC p.G349G PIK3R6_ENST00000434064.2_5'UTR NM_001010855.2 NP_001010855.1 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 349 platelet activation cytosol GCTCATCAGCCCCCGTGGGAA 0.662000 7 15 0 0 0.003080 0 0 TDP2 51567 broad.mit.edu 37 6 24651078 24651078 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:24651078C>A ENST00000341060.3 - 6 1248 c.853G>T c.(853-855)Gac>Tac p.D285Y TDP2_ENST00000545995.1_Missense_Mutation_p.D373Y|TDP2_ENST00000378198.4_Missense_Mutation_p.D343Y O95551 TYDP2_HUMAN tyrosyl-DNA phosphodiesterase 2 343 cell surface receptor linked signaling pathway|double-strand break repair PML body 5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity kidney(2)|large_intestine(1)|lung(5)|ovary(1) 9 CTACCACAGTCCAGTTTTTCT 0.398000 Direct reversal of damage 8 52 3.09899e-07 3.98441e-07 0.004482 1 0 FBXO40 51725 broad.mit.edu 37 3 121341270 121341270 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:121341270A>G ENST00000338040.4 + 3 1408 c.994A>G c.(994-996)Aga>Gga p.R332G NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 332 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) ACCCAAGGAGAGAGACTTTGT 0.468000 12 53 0 0 0.001368 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 7 20 3.09899e-07 3.98441e-07 0.004482 1 0 CPSF2 53981 broad.mit.edu 37 14 92600367 92600367 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr14:92600367G>T ENST00000298875.4 + 4 447 c.162G>T c.(160-162)caG>caT p.Q54H NM_017437.2 NP_059133.1 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2, 100kDa 54 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 24 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) ATGTTCACCAGATTGATGCAG 0.433000 37 112 1.52319e-26 2.85597e-26 0.008740 1 0 TEX13B 56156 broad.mit.edu 37 X 107225222 107225222 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:107225222C>A ENST00000302917.1 - 2 228 c.136G>T c.(136-138)Gtg>Ttg p.V46L NM_031273.2 NP_112563.1 Q9BXU2 TX13B_HUMAN testis expressed 13B 46 breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 TTGTCTTCCACCTCCTCCCAG 0.597000 15 176 6.31663e-08 8.41327e-08 0.003163 1 0 AADAC 13 broad.mit.edu 37 3 151545806 151545806 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:151545806G>A ENST00000232892.6 + 5 1172 c.1046G>A c.(1045-1047)gGa>gAa p.G349E RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA NM_001086.2 NP_001077.2 P22760 AAAD_HUMAN arylacetamide deacetylase 349 positive regulation of triglyceride catabolic process endoplasmic reticulum membrane|integral to membrane|microsome carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2) 19 Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112) LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) AGAGATGATGGACTCATGTAT 0.458000 11 43 0 0 0.008291 0 0 KIF4B 285643 broad.mit.edu 37 5 154394885 154394885 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:154394885A>G ENST00000435029.4 + 1 1626 c.1466A>G c.(1465-1467)gAt>gGt p.D489G NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 489 axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GCAGCCATTGATACTGCGGTA 0.453000 37 60 0 0 0.005524 0 0 HECW1 23072 broad.mit.edu 37 7 43484732 43484732 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:43484732C>A ENST00000395891.1 + 11 2566 c.1961C>A c.(1960-1962)aCc>aAc p.T654N HECW1_ENST00000453890.1_Missense_Mutation_p.T654N NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 654 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CACCCCAGCACCGGGAGCGAG 0.721000 20 30 4.96729e-08 6.64415e-08 0.008871 1 0 MAGIX 79917 broad.mit.edu 37 X 49022560 49022560 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:49022560C>A ENST00000376338.3 + 4 729 c.650C>A c.(649-651)gCc>gAc p.A217D MAGIX_ENST00000425661.2_Missense_Mutation_p.A200D|MAGIX_ENST00000376339.1_Missense_Mutation_p.A212D|MAGIX_ENST00000412696.2_Missense_Mutation_p.A276D|MAGIX_ENST00000498742.1_3'UTR Q9H6Y5 MAGIX_HUMAN MAGI family member, X-linked 276 CCAGAGGCGGCCGCCGATGGC 0.687000 7 12 0.000157383 0.000179948 0.003080 1 0 EMC1 23065 broad.mit.edu 37 1 19549300 19549300 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:19549300C>T ENST00000477853.1 - 20 2447 c.2405G>A c.(2404-2406)cGc>cAc p.R802H RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Missense_Mutation_p.R801H|EMC1_ENST00000375208.3_Missense_Mutation_p.R780H NM_001271428.1|NM_015047.1 NP_001258357.1|NP_055862.1 ER membrane protein complex subunit 1 AAACTCGTTGCGCCGAGCCTT 0.592000 4 38 0 0 0.009096 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33751635 33751635 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:33751635G>A ENST00000504830.1 - 3 843 c.508C>T c.(508-510)Cca>Tca p.P170S ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P170S|ADAMTS12_ENST00000515401.1_Missense_Mutation_p.P170S|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 170 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 TCTCCATGTGGTAGTTGGAAA 0.378000 HNSCC(64;0.19) 6 122 0 0 0.003080 0 0 DTX1 1840 broad.mit.edu 37 12 113534535 113534535 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:113534535A>T ENST00000257600.3 + 9 2157 c.1654A>T c.(1654-1656)Atc>Ttc p.I552F DTX1_ENST00000547974.1_3'UTR NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 552 negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 GCGGCTGCTCATCACGGCCTG 0.652000 5 18 0 0 0.000602 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50475331 50475331 + RNA SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:50475331C>A ENST00000602139.1 + 0 1277 sialic acid binding Ig-like lectin 16 (gene/pseudogene) p.R418C(1)|p.R380C(1) endometrium(2)|kidney(2)|lung(6) 10 GGGCTCCCAGCGCGTCTCTCT 0.662000 16 33 2.32078e-09 3.28561e-09 0.003163 1 0 PLD5 200150 broad.mit.edu 37 1 242511458 242511458 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:242511458C>T ENST00000427495.1 - 2 215 c.90G>A c.(88-90)atG>atA p.M30I PLD5_ENST00000536534.1_Missense_Mutation_p.M92I|PLD5_ENST00000442594.2_5'UTR NM_001195811.1|NM_001195812.1 NP_001182740.1|NP_001182741.1 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 92 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) CATCCTCTCCCATGATGTCCA 0.458000 47 67 0 0 0.003610 0 0 FAM118A 55007 broad.mit.edu 37 22 45726535 45726535 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr22:45726535G>C ENST00000216214.3 + 6 1408 c.574G>C c.(574-576)Ggc>Cgc p.G192R FAM118A_ENST00000441876.2_Missense_Mutation_p.G192R|FAM118A_ENST00000405548.3_Missense_Mutation_p.G10R NM_001104595.1 NP_001098065.1 Q9NWS6 F118A_HUMAN family with sequence similarity 118, member A 192 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) CCACATTCACGGCCTCTACAC 0.522000 10 33 0 0 0.006214 0 0 YIPF3 25844 broad.mit.edu 37 6 43480928 43480928 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:43480928G>T ENST00000372422.2 - 6 727 c.545C>A c.(544-546)aCc>aAc p.T182N YIPF3_ENST00000506469.1_Missense_Mutation_p.T188N NM_015388.3 NP_056203.2 Q9GZM5 YIPF3_HUMAN Yip1 domain family, member 3 182 cell differentiation integral to membrane|plasma membrane|transport vesicle large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1) 9 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) GCCCATCAGGGTGCCCTCCCG 0.587000 44 135 6.21074e-16 1.04063e-15 0.011902 1 0 OR5J2 282775 broad.mit.edu 37 11 55944484 55944484 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:55944484C>A ENST00000312298.1 + 1 391 c.391C>A c.(391-393)Ctt>Att p.L131I NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) GAGTCCCTTGCTTTACACTGT 0.453000 19 65 1.00905e-13 1.62168e-13 0.008871 1 0 CHRNG 1146 broad.mit.edu 37 2 233406084 233406084 + Splice_Site SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:233406084C>A ENST00000389494.3 + 5 372 c.350_splice c.e5-1 p.N117_splice CHRNG_ENST00000389492.3_Intron NM_005199.4 NP_005190.4 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma (muscle) 117 muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) GTGCATACAGCGTGGACGGTG 0.657000 13 107 7.03913e-09 9.70383e-09 0.001368 1 0 EZH2 2146 broad.mit.edu 37 7 148515173 148515173 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:148515173C>T ENST00000320356.2 - 10 1157 c.1036G>A c.(1036-1038)Gag>Aag p.E346K EZH2_ENST00000536783.1_3'UTR|EZH2_ENST00000541220.1_Missense_Mutation_p.E332K|EZH2_ENST00000483967.1_Missense_Mutation_p.E332K|EZH2_ENST00000478654.1_Missense_Mutation_p.E332K|EZH2_ENST00000476773.1_Missense_Mutation_p.E332K|EZH2_ENST00000460911.1_Missense_Mutation_p.E341K|EZH2_ENST00000350995.2_Missense_Mutation_p.E302K NM_001203247.1|NM_001203248.1|NM_004456.4 NP_001190176.1|NP_001190177.1|NP_004447.2 Q15910 EZH2_HUMAN enhancer of zeste homolog 2 (Drosophila) 341 negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3) 359 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) TTTATCCGCTCAGCGGTGAGA 0.498000 Mis DLBCL 15 149 0 0 0.002450 0 0 NDST4 64579 broad.mit.edu 37 4 115998118 115998118 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:115998118G>A ENST00000264363.2 - 2 753 c.75C>T c.(73-75)agC>agT p.S25S NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 25 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) AAATGACAATGCTCACCAAGC 0.358000 6 20 0 0 0.001168 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159820165 159820165 + RNA SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:159820165C>A ENST00000497452.1 - 0 517 GTCCAATACTCAAGACAGGCT 0.418000 39 141 6.2361e-21 1.14208e-20 0.007835 1 0 CPED1 79974 broad.mit.edu 37 7 120884330 120884330 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:120884330C>A ENST00000310396.5 + 18 2715 c.2248C>A c.(2248-2250)Cac>Aac p.H750N CPED1_ENST00000423795.1_Missense_Mutation_p.H530N|CPED1_ENST00000450913.2_Missense_Mutation_p.H750N NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 CTGGCAGCCCCACAACTGCCA 0.493000 22 60 7.45023e-12 1.13373e-11 0.010504 1 0 MPPE1 65258 broad.mit.edu 37 18 11885719 11885719 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:11885719G>A ENST00000588072.1 - 10 2185 c.964C>T c.(964-966)Cca>Tca p.P322S MPPE1_ENST00000399978.2_Missense_Mutation_p.P323S|MPPE1_ENST00000344987.7_Missense_Mutation_p.P300S|MPPE1_ENST00000317235.7_Missense_Mutation_p.P259S|MPPE1_ENST00000309976.9_Missense_Mutation_p.P259S NM_023075.5 NP_075563.3 Q53F39 MPPE1_HUMAN metallophosphoesterase 1 322 ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 5 CTGAAAGATGGGACGCTGAGC 0.527000 5 42 0 0 0.001168 0 0 ZW10 9183 broad.mit.edu 37 11 113631271 113631271 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:113631271C>A ENST00000200135.3 - 4 528 c.384G>T c.(382-384)gaG>gaT p.E128D NM_004724.3 NP_004715.1 O43264 ZW10_HUMAN zw10 kinetochore protein 128 Interaction with RINT1. cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 18 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) CATACTTCTTCTCTGTTAATG 0.338000 29 98 8.58068e-18 1.48512e-17 0.007291 1 0 PRDM2 7799 broad.mit.edu 37 1 14107117 14107117 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:14107117G>T ENST00000235372.7 + 8 3683 c.2827G>T c.(2827-2829)Gat>Tat p.D943Y PRDM2_ENST00000413440.1_Missense_Mutation_p.D742Y|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.D742Y|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.D943Y NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 943 Pro-rich. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) GTCCACACCTGATGTTTGTCC 0.582000 60 154 1.83847e-13 2.94717e-13 0.003610 1 0 ABCB1 5243 broad.mit.edu 37 7 87160794 87160794 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:87160794G>A ENST00000265724.3 - 22 2918 c.2501C>T c.(2500-2502)gCt>gTt p.A834V ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.A770V NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 834 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GGTAATTACAGCAAGCCTGGA 0.343000 15 29 0 0 0.002450 0 0 CNR1 1268 broad.mit.edu 37 6 88853946 88853946 + Missense_Mutation SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:88853946C>G ENST00000537554.1 - 2 4610 c.1048G>C c.(1048-1050)Gtg>Ctg p.V350L CNR1_ENST00000369501.2_Missense_Mutation_p.V350L|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549890.1_Missense_Mutation_p.V350L|CNR1_ENST00000369499.2_Missense_Mutation_p.V350L|CNR1_ENST00000535130.1_Missense_Mutation_p.V350L|CNR1_ENST00000549716.1_Missense_Mutation_p.V289L|CNR1_ENST00000468898.1_Missense_Mutation_p.V317L|CNR1_ENST00000428600.2_Missense_Mutation_p.V350L NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 350 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 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;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) ATCAACACCACCAGGATCAGG 0.522000 5 120 0 0 0.001168 0 0 MPPE1 65258 broad.mit.edu 37 18 11885721 11885721 + Missense_Mutation SNP A A C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:11885721A>C ENST00000588072.1 - 10 2183 c.962T>G c.(961-963)gTc>gGc p.V321G MPPE1_ENST00000399978.2_Missense_Mutation_p.V322G|MPPE1_ENST00000344987.7_Missense_Mutation_p.V299G|MPPE1_ENST00000317235.7_Missense_Mutation_p.V258G|MPPE1_ENST00000309976.9_Missense_Mutation_p.V258G NM_023075.5 NP_075563.3 Q53F39 MPPE1_HUMAN metallophosphoesterase 1 321 ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 5 GAAAGATGGGACGCTGAGCTC 0.527000 7 41 0 0 0.003080 0 0 MAGEE1 57692 broad.mit.edu 37 X 75649518 75649518 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:75649518G>C ENST00000361470.2 + 1 1473 c.1195G>C c.(1195-1197)Gga>Cga p.G399R NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 399 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 CGCCCCTGACGGACCGGGAAG 0.642000 8 20 0 0 0.003080 0 0 KCNA4 3739 broad.mit.edu 37 11 30034191 30034191 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:30034191C>A ENST00000328224.6 - 2 1268 c.35G>T c.(34-36)gGg>gTg p.G12V NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 12 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 ACTGTTGCACCCTGAGCTCTC 0.562000 41 134 1.04594e-18 1.84578e-18 0.006230 1 0 SH3PXD2B 285590 broad.mit.edu 37 5 171777438 171777438 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:171777438T>A ENST00000311601.5 - 10 1111 c.941A>T c.(940-942)aAg>aTg p.K314M SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.K314M NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 314 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GAGCAGCTCCTTCTCCCTGCC 0.677000 34 28 0 0 0.012213 0 0 FA2H 79152 broad.mit.edu 37 16 74750356 74750356 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr16:74750356G>A ENST00000219368.3 - 6 997 c.928C>T c.(928-930)Ctc>Ttc p.L310F FA2H_ENST00000544337.1_Missense_Mutation_p.L97F NM_024306.4 NP_077282.3 Q7L5A8 FA2H_HUMAN fatty acid 2-hydroxylase 310 cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport endoplasmic reticulum membrane|integral to membrane|microsome heme binding|oxidoreductase activity endometrium(2)|large_intestine(4)|lung(3)|skin(1) 10 ATGTCATAGAGGACGTAGCCC 0.597000 12 18 0 0 0.002450 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130319110 130319110 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:130319110C>T ENST00000299164.2 + 1 242 c.242C>T c.(241-243)aCt>aTt p.T81I NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 81 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) GCCTTCTCCACTGAGCATCTG 0.597000 29 76 0 0 0.007291 0 0 CRIP3 401262 broad.mit.edu 37 6 43275482 43275482 + Splice_Site SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:43275482C>A ENST00000372569.3 - 4 201 c.e4-1 CRIP3_ENST00000274990.4_Splice_Site|ZNF318_ENST00000607252.1_5'UTR NM_206922.2 NP_996805.2 Q6Q6R5 CRIP3_HUMAN cysteine-rich protein 3 cytoplasm zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) ATGTTCACCCCTGAAGAGAGA 0.612000 20 62 2.4624e-09 3.46274e-09 0.008871 1 0 PREPL 9581 broad.mit.edu 37 2 44548542 44548542 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:44548542C>A ENST00000541738.1 - 14 2256 c.1870G>T c.(1870-1872)Gac>Tac p.D624Y PREPL_ENST00000378520.3_Missense_Mutation_p.D647Y|PREPL_ENST00000409936.1_Missense_Mutation_p.D713Y|PREPL_ENST00000409957.1_Missense_Mutation_p.D624Y|PREPL_ENST00000409411.1_Missense_Mutation_p.D624Y|PREPL_ENST00000410081.1_Missense_Mutation_p.D713Y|PREPL_ENST00000409272.1_Missense_Mutation_p.D713Y|SLC3A1_ENST00000260649.6_3'UTR|PREPL_ENST00000260648.6_Missense_Mutation_p.D713Y|PREPL_ENST00000378511.3_Missense_Mutation_p.D651Y NM_001171617.1 NP_001165088.1 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like 713 proteolysis cytosol serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CTGGTGCTGTCAAGTCCAAGT 0.343000 7 27 0.00307968 0.00333367 0.003080 1 0 FREM1 158326 broad.mit.edu 37 9 14737474 14737474 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:14737474C>A ENST00000380881.4 - 38 7278 c.6463G>T c.(6463-6465)Gtt>Ttt p.V2155F FREM1_ENST00000422223.2_Missense_Mutation_p.V2154F|FREM1_ENST00000380894.1_Missense_Mutation_p.V690F|FREM1_ENST00000380880.3_Missense_Mutation_p.V2154F Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 2154 C-type lectin. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TGTCTTTGAACCAAAACACAG 0.478000 7 24 2.0095e-06 2.49701e-06 0.001984 1 0 OR56A3 390083 broad.mit.edu 37 11 5968677 5968677 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:5968677C>A ENST00000329564.6 + 1 108 c.101C>A c.(100-102)cCc>cAc p.P34H NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGTCCCTGCCCCTCAGCCTC 0.572000 62 71 3.76628e-20 6.83792e-20 0.003610 1 0 SLAMF1 6504 broad.mit.edu 37 1 160616670 160616670 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:160616670G>C ENST00000302035.6 - 1 415 c.66C>G c.(64-66)agC>agG p.S22R SLAMF1_ENST00000538290.1_Missense_Mutation_p.S22R|SLAMF1_ENST00000494463.1_5'UTR|SLAMF1_ENST00000355199.3_Missense_Mutation_p.S22R|SLAMF1_ENST00000235739.5_Missense_Mutation_p.S22R NM_003037.2 NP_003028.1 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family member 1 22 interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CTGTTCCGTAGCTTGCCCCAA 0.557000 6 42 0 0 0.001168 0 0 OR2L2 26246 broad.mit.edu 37 1 248202247 248202247 + Silent SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:248202247C>G ENST00000366479.2 + 1 774 c.678C>G c.(676-678)cgC>cgG p.R226R OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CTGTCTACCGCATGCACTCTG 0.483000 107 129 0 0 0.003610 0 0 SLC17A6 57084 broad.mit.edu 37 11 22397583 22397583 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:22397583G>T ENST00000263160.3 + 10 1667 c.1230G>T c.(1228-1230)ggG>ggT p.G410G NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 410 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 ATACTAGAGGGGTAGCAATCT 0.373000 7 220 2.74318e-10 4.02845e-10 0.006214 1 0 CEBPE 1053 broad.mit.edu 37 14 23587927 23587927 + Missense_Mutation SNP C C T rs61737804 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr14:23587927C>T ENST00000206513.5 - 1 898 c.374G>A c.(373-375)cGg>cAg p.R125Q NM_001805.3 NP_001796.2 Q15744 CEBPE_HUMAN CCAAT/enhancer binding protein (C/EBP), epsilon 125 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) CTCTGGCCCCCGGGGCTCCTC 0.672000 4 54 0 0 0.000602 0 0 RGS12 6002 broad.mit.edu 37 4 3441281 3441281 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:3441281G>T ENST00000344733.5 + 18 5118 c.4214G>T c.(4213-4215)gGg>gTg p.G1405V RGS12_ENST00000338806.4_Missense_Mutation_p.G757V NM_198229.2 NP_937872.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1405 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GGCATAGCGGGGGCACAGGCT 0.662000 10 38 2.17888e-05 2.58025e-05 0.006214 1 0 MTG1 92170 broad.mit.edu 37 10 135209744 135209744 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:135209744G>T ENST00000468317.2 + 4 525 c.270G>T c.(268-270)atG>atT p.M90I MTG1_ENST00000317502.6_Missense_Mutation_p.M85I|MTG1_ENST00000477902.2_Missense_Mutation_p.M44I TCAACAAGATGGACTTGGCGG 0.498000 48 78 1.02687e-29 1.95446e-29 0.013114 1 0 LCE2D 353141 broad.mit.edu 37 1 152636902 152636902 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:152636902G>T ENST00000368784.1 + 2 376 c.321G>T c.(319-321)ggG>ggT p.G107G NM_178430.2 NP_848517.1 Q5TA82 LCE2D_HUMAN late cornified envelope 2D 107 Cys-rich. keratinization large_intestine(1)|lung(7)|prostate(2) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ACAGCTCTGGGGGCTGCTGCT 0.592000 24 145 2.21704e-12 3.39837e-12 0.002780 1 0 ITGA4 3676 broad.mit.edu 37 2 182399575 182399575 + Silent SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:182399575C>G ENST00000397033.2 + 27 3346 c.2916C>G c.(2914-2916)ccC>ccG p.P972P NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 972 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) ATCAAAGACCCAAACGTTATT 0.313000 4 35 0 0 0.009096 0 0 RNASEH1 246243 broad.mit.edu 37 2 3598004 3598004 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:3598004C>A ENST00000315212.3 - 4 823 c.468G>T c.(466-468)ccG>ccT p.P156P NM_002936.3 NP_002927.2 O60930 RNH1_HUMAN ribonuclease H1 156 RNase H. RNA catabolic process cytoplasm magnesium ion binding|ribonuclease H activity|RNA binding endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1) 13 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22) TTCCTGCTCGCGGCCTTCTAC 0.502000 47 116 3.39706e-21 6.23949e-21 0.003610 1 0 LUM 4060 broad.mit.edu 37 12 91502264 91502264 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:91502264G>T ENST00000266718.4 - 2 947 c.493C>A c.(493-495)Cat>Aat p.H165N LUM_ENST00000548071.1_Intron NM_002345.3 NP_002336.1 P51884 LUM_HUMAN lumican 165 collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 TGCTGGAGATGGATGAAGGTC 0.453000 11 48 7.03913e-09 9.70383e-09 0.001368 1 0 RPAP1 26015 broad.mit.edu 37 15 41823309 41823309 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:41823309G>A ENST00000304330.4 - 7 971 c.855C>T c.(853-855)ccC>ccT p.P285P RPAP1_ENST00000561603.1_Silent_p.P285P|RPAP1_ENST00000568413.1_5'UTR NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 285 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) CATTAGCAGAGGGTCCTCCTG 0.572000 58 170 0 0 0.003610 0 0 ALDH4A1 8659 broad.mit.edu 37 1 19209835 19209835 + Nonsense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:19209835C>A ENST00000375341.3 - 6 798 c.541G>T c.(541-543)Gag>Tag p.E181* ALDH4A1_ENST00000538839.1_Nonsense_Mutation_p.E181*|ALDH4A1_ENST00000538309.1_Nonsense_Mutation_p.E121*|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000290597.5_Nonsense_Mutation_p.E181* NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family, member A1 181 proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) TGCTGCCCCTCCAGCTCCACC 0.637000 21 30 6.33239e-15 1.04435e-14 0.010504 1 0 PDE6B 5158 broad.mit.edu 37 4 651145 651145 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:651145G>A ENST00000255622.6 + 10 1306 c.1263G>A c.(1261-1263)ctG>ctA p.L421L PDE6B_ENST00000496514.1_Silent_p.L421L|PDE6B_ENST00000429163.2_Silent_p.L142L NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 421 GAF 2. cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 TCCAGTCCCTGACACAGTTCC 0.637000 8 22 0 0 0.003080 0 0 F8 2157 broad.mit.edu 37 X 154158987 154158987 + Silent SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:154158987T>C ENST00000360256.4 - 14 3278 c.3078A>G c.(3076-3078)tcA>tcG p.S1026S NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1026 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TATTAGTTGCTGAATTATTGG 0.333000 60 57 0 0 0.003610 0 0 WHSC1 7468 broad.mit.edu 37 4 1920134 1920134 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:1920134G>T ENST00000503128.1 + 5 1401 c.1194G>T c.(1192-1194)aaG>aaT p.K398N WHSC1_ENST00000398261.1_Missense_Mutation_p.K398N|WHSC1_ENST00000514045.1_Missense_Mutation_p.K398N|WHSC1_ENST00000420906.2_Missense_Mutation_p.K398N|WHSC1_ENST00000382892.2_Missense_Mutation_p.K398N|WHSC1_ENST00000382895.3_Missense_Mutation_p.K398N|WHSC1_ENST00000508803.1_Missense_Mutation_p.K398N|WHSC1_ENST00000382891.5_Missense_Mutation_p.K398N O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 398 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) TTCCCATGAAGAGAAGGCGGA 0.532000 T IGH@ MM 5 41 0.000602214 0.000670309 0.000602 1 0 ZHX1 11244 broad.mit.edu 37 8 124266145 124266145 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:124266145C>A ENST00000395571.3 - 3 2659 c.2042G>T c.(2041-2043)cGg>cTg p.R681L ZHX1_ENST00000522655.1_Missense_Mutation_p.R681L|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.R681L NM_001017926.2|NM_007222.4 NP_001017926.1|NP_009153.3 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 681 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) CCACTGTGTCCGGACAAATGC 0.478000 29 52 5.77227e-19 1.02437e-18 0.008361 1 0 RPAP1 26015 broad.mit.edu 37 15 41823373 41823373 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:41823373G>C ENST00000304330.4 - 7 907 c.791C>G c.(790-792)tCt>tGt p.S264C RPAP1_ENST00000561603.1_Missense_Mutation_p.S264C|RPAP1_ENST00000568413.1_5'UTR NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 264 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GTGGCTGTGAGATCTCAAGAA 0.572000 47 137 0 0 0.003610 0 0 SCAND3 114821 broad.mit.edu 37 6 28539765 28539765 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:28539765G>A ENST00000452236.2 - 4 4518 c.3901C>T c.(3901-3903)Ctg>Ttg p.L1301L NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1301 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 gctaccctcaggggataatgt 0.338000 17 45 0 0 0.004007 0 0 DIP2A 23181 broad.mit.edu 37 21 47929244 47929244 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr21:47929244C>T ENST00000318711.7 + 7 1045 c.862C>T c.(862-864)Cca>Tca p.P288S DIP2A_ENST00000427143.2_Missense_Mutation_p.P223S|DIP2A_ENST00000457905.3_Missense_Mutation_p.P287S|DIP2A_ENST00000417564.2_Missense_Mutation_p.P287S|DIP2A_ENST00000466639.1_Missense_Mutation_p.P244S|DIP2A_ENST00000400274.1_Missense_Mutation_p.P287S|DIP2A_ENST00000435722.3_Missense_Mutation_p.P287S NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 287 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) AAAGCGCCCTCCACTGAAGGA 0.493000 44 85 0 0 0.003610 0 0 NCF2 4688 broad.mit.edu 37 1 183536055 183536055 + Splice_Site SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:183536055C>A ENST00000413720.1 - 8 1063 c.789_splice c.e8+1 p.Q263_splice NCF2_ENST00000418089.1_Splice_Site_p.Q227_splice|NCF2_ENST00000367536.1_Splice_Site_p.Q308_splice|NCF2_ENST00000367535.3_Splice_Site_p.Q308_splice NM_001190794.1 NP_001177723.1 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 308 SH3 1. cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 ATCACATTACCTGGGGCTGCT 0.542000 32 45 3.62531e-18 6.32671e-18 0.004289 1 0 WDR64 128025 broad.mit.edu 37 1 241912881 241912881 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:241912881C>A ENST00000366552.2 + 13 1804 c.1597C>A c.(1597-1599)Cag>Aag p.Q533K WDR64_ENST00000437684.2_Missense_Mutation_p.Q533K NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 533 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) TGGCAGTGGGCAGGAGATGAA 0.493000 35 62 3.62531e-18 6.32671e-18 0.004289 1 0 RASA3 22821 broad.mit.edu 37 13 114781695 114781695 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr13:114781695C>A ENST00000334062.7 - 13 1380 c.1259G>T c.(1258-1260)gGa>gTa p.G420V RASA3_ENST00000389544.4_Missense_Mutation_p.G388V NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 420 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) AAGGTTTTCTCCGTCTTTCAA 0.507000 11 30 3.86212e-05 4.51417e-05 0.008291 1 0 MBNL3 55796 broad.mit.edu 37 X 131540343 131540343 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:131540343C>T ENST00000538204.1 - 2 170 c.105G>A c.(103-105)cgG>cgA p.R35R MBNL3_ENST00000370857.3_Silent_p.R85R|MBNL3_ENST00000370839.3_Silent_p.R85R|RP5-842K24.2_ENST00000441399.1_RNA|MBNL3_ENST00000473364.1_5'UTR|MBNL3_ENST00000370853.3_Silent_p.R85R|MBNL3_ENST00000370849.3_Silent_p.R35R|RP5-842K24.2_ENST00000421483.1_RNA|MBNL3_ENST00000370844.1_5'UTR|MBNL3_ENST00000394311.2_5'UTR NM_001170702.1 NP_001164173.1 Q9NUK0 MBNL3_HUMAN muscleblind-like splicing regulator 3 85 mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing Golgi apparatus|nucleus nucleic acid binding|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2) 16 Acute lymphoblastic leukemia(192;0.000127) TCAGATTGTTCCGCCCATTAA 0.488000 15 114 0 0 0.002450 0 0 ANKK1 255239 broad.mit.edu 37 11 113264300 113264300 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:113264300G>T ENST00000303941.3 + 2 377 c.283G>T c.(283-285)Ggt>Tgt p.G95C NM_178510.1 NP_848605.1 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 95 Protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) GCAGCCCCTGGGTATTGTGAT 0.512000 10 33 7.48243e-07 9.56172e-07 0.006214 1 0 PCDH10 57575 broad.mit.edu 37 4 134072738 134072738 + Nonsense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:134072738C>A ENST00000264360.4 + 1 2269 c.1443C>A c.(1441-1443)taC>taA p.Y481* NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 481 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CTGGCGCCTACATCTACGCGG 0.602000 24 94 2.98393e-07 3.88404e-07 0.002780 1 0 PPM1E 22843 broad.mit.edu 37 17 57046944 57046944 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:57046944G>T ENST00000308249.2 + 4 957 c.828G>T c.(826-828)ggG>ggT p.G276G NM_014906.4 NP_055721.3 Q8WY54 PPM1E_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E 285 PP2C-like. protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) ATGGCCATGGGGGAGTAGATG 0.493000 23 50 2.21704e-12 3.39837e-12 0.002780 1 0 OR2M5 127059 broad.mit.edu 37 1 248308862 248308862 + Missense_Mutation SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:248308862C>G ENST00000366476.1 + 1 413 c.413C>G c.(412-414)cCc>cGc p.P138R NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CTCATGAGACCCAAAATTTGT 0.458000 55 332 0 0 0.003610 0 0 OTUD4 54726 broad.mit.edu 37 4 146058708 146058708 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:146058708C>A ENST00000454497.2 - 21 3161 c.3024G>T c.(3022-3024)tgG>tgT p.W1008C OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.W1073C NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 1072 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GCTGTCCTTTCCAGGACTCCT 0.473000 61 161 4.17052e-40 8.08439e-40 0.003610 1 0 RBM19 9904 broad.mit.edu 37 12 114386693 114386693 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:114386693C>A ENST00000545145.2 - 10 1299 c.1221G>T c.(1219-1221)cgG>cgT p.R407R RBM19_ENST00000392561.3_Silent_p.R407R|RBM19_ENST00000261741.5_Silent_p.R407R NM_001146699.1 NP_001140171.1 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 407 RRM 3. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) AGGGCAGGTTCCGTACAAAGA 0.592000 25 58 3.01185e-09 4.21659e-09 0.003954 1 0 UGT8 7368 broad.mit.edu 37 4 115544302 115544302 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:115544302A>T ENST00000310836.6 + 2 788 c.266A>T c.(265-267)aAg>aTg p.K89M UGT8_ENST00000394511.3_Missense_Mutation_p.K89M NM_001128174.1 NP_001121646.1 Q16880 CGT_HUMAN UDP glycosyltransferase 8 89 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) CTACAGTCCAAGATGCGGAAT 0.473000 19 60 0 0 0.008871 0 0 OR51A4 401666 broad.mit.edu 37 11 4967808 4967808 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:4967808G>T ENST00000380373.2 - 1 548 c.523C>A c.(523-525)Caa>Aaa p.Q175K MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGGATAATTGGTTTTTCTTG 0.418000 41 247 4.17593e-13 6.61015e-13 0.007835 1 0 SERPINB12 89777 broad.mit.edu 37 18 61232776 61232776 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:61232776C>A ENST00000382768.1 + 6 804 c.804C>A c.(802-804)acC>acA p.T268T SERPINB12_ENST00000269491.1_Silent_p.T248T Q96P63 SPB12_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 12 248 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 TGAGGTACACCAAGGGGAAGC 0.443000 4 79 0.00024832 0.000280361 0.009096 1 0 MRGPRX2 117194 broad.mit.edu 37 11 19077263 19077263 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:19077263C>A ENST00000329773.2 - 2 774 c.687G>T c.(685-687)gtG>gtT p.V229V NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 229 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 GGAACACCAGCACTGTGAGCA 0.532000 25 45 1.85244e-09 2.62846e-09 0.003330 1 0 TTC39C 125488 broad.mit.edu 37 18 21698196 21698196 + Splice_Site SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:21698196G>T ENST00000540918.2 + 3 515 c.265_splice c.e3+1 p.V89_splice TTC39C_ENST00000317571.3_Splice_Site_p.V396_splice|TTC39C_ENST00000304621.6_Splice_Site_p.V335_splice|RP11-799B12.2_ENST00000583782.1_RNA Q8N584 TT39C_HUMAN tetratricopeptide repeat domain 39C 396 binding breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19 CTTGACTGCAGGTGAGTCGCC 0.493000 5 45 0.000602214 0.000670309 0.000602 1 0 CDK15 65061 broad.mit.edu 37 2 202755521 202755521 + Silent SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:202755521T>C ENST00000410091.3 + 14 1408 c.1059T>C c.(1057-1059)ttT>ttC p.F353F CDK15_ENST00000450471.2_Intron|CDK15_ENST00000374598.4_Silent_p.F404F|CDK15_ENST00000260967.2_Silent_p.F353F Q96Q40 CDK15_HUMAN cyclin-dependent kinase 15 404 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1) 26 Adenosine triphosphate(DB00171) AGTCTTTGTTTACAGTTTCAG 0.428000 9 39 0 0 0.008291 0 0 TRIM27 5987 broad.mit.edu 37 6 28872429 28872429 + Silent SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:28872429C>G ENST00000377199.3 - 8 1316 c.960G>C c.(958-960)ctG>ctC p.L320L TRIM27_ENST00000377194.3_Silent_p.L320L NM_006510.4 NP_006501.1 P14373 TRI27_HUMAN tripartite motif containing 27 320 B30.2/SPRY. cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 TGTCTGGGTCCAGAGTCACGT 0.557000 T RET papillary thyroid 7 39 0 0 0.001984 0 0 SART1 9092 broad.mit.edu 37 11 65733831 65733831 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:65733831G>T ENST00000312397.5 + 9 1084 c.992G>T c.(991-993)cGc>cTc p.R331L NM_005146.4 NP_005137.1 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T cells 331 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CAAAAACCTCGCTCTATCCTG 0.607000 24 35 1.55469e-16 2.64005e-16 0.003330 1 0 SLITRK2 84631 broad.mit.edu 37 X 144906475 144906475 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:144906475G>A ENST00000370490.1 + 1 6787 c.2532G>A c.(2530-2532)caG>caA p.Q844Q SLITRK2_ENST00000428560.2_Silent_p.Q844Q|SLITRK2_ENST00000434188.2_Silent_p.Q844Q|SLITRK2_ENST00000447897.2_Silent_p.Q844Q|SLITRK2_ENST00000413937.2_Silent_p.Q844Q Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 844 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) CAATCAGTCAGCTGTGAAGGG 0.458000 72 51 0 0 0.003610 0 0 RPAP1 26015 broad.mit.edu 37 15 41823307 41823307 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:41823307G>A ENST00000304330.4 - 7 973 c.857C>T c.(856-858)tCt>tTt p.S286F RPAP1_ENST00000561603.1_Missense_Mutation_p.S286F|RPAP1_ENST00000568413.1_5'UTR NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 286 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GACATTAGCAGAGGGTCCTCC 0.572000 57 168 0 0 0.003610 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43630516 43630516 + Silent SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:43630516T>C ENST00000332857.6 - 1 214 c.186A>G c.(184-186)agA>agG p.R62R NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 TCCTTACCTTTCTCTTCCCAG 0.468000 61 40 0 0 0.003610 0 0 ZBTB49 166793 broad.mit.edu 37 4 4317389 4317389 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:4317389G>A ENST00000337872.4 + 6 1524 c.1403G>A c.(1402-1404)cGt>cAt p.R468H ZBTB49_ENST00000355834.3_Intron|ZBTB49_ENST00000538529.1_5'UTR NM_145291.3 NP_660334.3 Q6ZSB9 ZBT49_HUMAN zinc finger and BTB domain containing 49 468 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 28 GACGTCCAGCGTCACATTATT 0.403000 3 21 0 0 0.004672 0 0 UBE2A 7319 broad.mit.edu 37 X 118709339 118709339 + Splice_Site SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:118709339C>A ENST00000371558.2 + 3 301 c.125_splice c.e3-1 p.P43_splice UBE2A_ENST00000469205.1_3'UTR|UBE2A_ENST00000346330.3_Splice_Site_p.P43_splice NM_003336.2|NM_181762.1 NP_003327.2|NP_861427.1 P49459 UBE2A_HUMAN ubiquitin-conjugating enzyme E2A 43 histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity haematopoietic_and_lymphoid_tissue(1)|lung(7) 8 GTGTTGCAGGCCTGAAGGGAC 0.542000 Rad6 pathway 24 119 7.92952e-12 1.20376e-11 0.003954 1 0 CDH23 64072 broad.mit.edu 37 10 73558329 73558329 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:73558329T>A ENST00000224721.6 + 49 7068 c.7063T>A c.(7063-7065)Tcg>Acg p.S2355T CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.S110T NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2350 Cadherin 22. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GGAGGACTCCTCGGCAGGTAG 0.597000 9 22 0 0 0.004482 0 0 DCHS1 8642 broad.mit.edu 37 11 6648047 6648047 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:6648047C>A ENST00000299441.3 - 14 6634 c.6223G>T c.(6223-6225)Gct>Tct p.A2075S NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 2075 Cadherin 20. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGAATCGTAGCCTCACTGCTA 0.587000 5 34 3.59834e-05 4.22151e-05 0.001168 1 0 CRMP1 1400 broad.mit.edu 37 4 5862766 5862766 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:5862766C>A ENST00000324989.7 - 3 730 c.642G>T c.(640-642)ggG>ggT p.G214G CRMP1_ENST00000397890.2_Silent_p.G100G|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Silent_p.G98G NM_001014809.1 NP_001014809.1 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 100 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) TCATCGTGGTCCCGCCCACCA 0.582000 6 35 0.00198382 0.00215484 0.001984 1 0 NCKAP5 344148 broad.mit.edu 37 2 133541593 133541593 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:133541593G>A ENST00000409261.1 - 14 3164 c.2791C>T c.(2791-2793)Ccc>Tcc p.P931S NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P931S NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 931 Poly-Pro. PP -> QS (in Ref. 5; BAA22433). 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 CCTGGAGGGGGCGGAGGGGAA 0.622000 4 30 0 0 0.009096 0 0 LIG3 3980 broad.mit.edu 37 17 33323660 33323660 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:33323660G>C ENST00000378526.4 + 11 1944 c.1811G>C c.(1810-1812)aGc>aCc p.S604T LIG3_ENST00000262327.5_Missense_Mutation_p.S604T NM_013975.3 NP_039269.2 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent 604 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1) 31 Ovarian(249;0.17) Bleomycin(DB00290) AATGATGTCAGCTTGATGGAC 0.433000 Other BER factors 12 102 0 0 0.010729 0 0 HERC1 8925 broad.mit.edu 37 15 63988517 63988517 + Nonsense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:63988517G>A ENST00000443617.2 - 27 5014 c.4927C>T c.(4927-4929)Cag>Tag p.Q1643* RP11-317G6.1_ENST00000559303.2_RNA NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 1643 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 ACGAGGATCTGATGAAGTGCC 0.413000 3 9 0 0 0.004672 0 0 ZIM3 114026 broad.mit.edu 37 19 57647108 57647108 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:57647108G>C ENST00000269834.1 - 5 982 c.597C>G c.(595-597)agC>agG p.S199R NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 199 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTCTTCCACAGCTATGACATT 0.433000 37 134 0 0 0.006230 0 0 ACVR1 90 broad.mit.edu 37 2 158656003 158656003 + Translation_Start_Site SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:158656003C>A ENST00000263640.3 - 3 432 c.3G>T c.(1-3)atG>atT p.M1I ACVR1_ENST00000410057.2_Start_Codon_SNP_p.M1I|ACVR1_ENST00000409283.2_Start_Codon_SNP_p.M1I|ACVR1_ENST00000434821.1_Start_Codon_SNP_p.M1I NM_001105.4 NP_001096.1 Q04771 ACVR1_HUMAN activin A receptor, type I 1 BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway activin receptor complex activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 19 BRCA - Breast invasive adenocarcinoma(221;0.104) Adenosine triphosphate(DB00171) CTCCATCTACCATTGTACAAC 0.383000 10 27 0.00136819 0.00149906 0.001368 1 0 ZPBP 11055 broad.mit.edu 37 7 50023026 50023026 + Silent SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:50023026T>C ENST00000046087.2 - 7 942 c.873A>G c.(871-873)gaA>gaG p.E291E ZPBP_ENST00000491129.1_5'UTR|ZPBP_ENST00000419417.1_Silent_p.E290E NM_001159878.1|NM_007009.2 NP_001153350.1|NP_008940.2 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein 291 binding of sperm to zona pellucida extracellular region NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) GGAGAGTACCTTCAATATAGT 0.353000 11 26 0 0 0.010729 0 0 DPP6 1804 broad.mit.edu 37 7 154172070 154172070 + Silent SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:154172070T>C ENST00000404039.1 + 3 800 c.213T>C c.(211-213)gaT>gaC p.D71D DPP6_ENST00000427557.1_Silent_p.D73D|DPP6_ENST00000406326.1_Silent_p.D135D|DPP6_ENST00000377770.3_Silent_p.D135D|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000332007.3_Silent_p.D73D NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 135 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CTGTAGAAGATCTCTTCAGTG 0.403000 7 60 0 0 0.001984 0 0 SLC35A2 7355 broad.mit.edu 37 X 48767203 48767203 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:48767203G>A ENST00000376521.1 - 2 483 c.162C>T c.(160-162)atC>atT p.I54I SLC35A2_ENST00000376512.1_Silent_p.I54I|SLC35A2_ENST00000376529.3_Silent_p.I54I|SLC35A2_ENST00000445167.2_Silent_p.I54I|SLC35A2_ENST00000413561.2_Intron|SLC35A2_ENST00000376515.3_Silent_p.I30I|SLC35A2_ENST00000452555.2_Silent_p.I82I|SLC35A2_ENST00000247138.5_Silent_p.I54I NM_001042498.2 NP_001035963.1 P78381 S35A2_HUMAN solute carrier family 35 (UDP-galactose transporter), member A2 54 galactose metabolic process Golgi membrane|integral to membrane|nucleus sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2) 15 GGGCGTAGCGGATGCTGAGGA 0.612000 7 32 0 0 0.001984 0 0 ABCA7 10347 broad.mit.edu 37 19 1055905 1055905 + Splice_Site SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:1055905G>T ENST00000263094.6 + 31 4436 c.e31-1 ABCA7_ENST00000433129.1_Splice_Site|ABCA7_ENST00000435683.2_Splice_Site NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTCTCCCACAGCCTGAAGACT 0.582000 45 31 3.68337e-26 6.88583e-26 0.003610 1 0 BRCA2 675 broad.mit.edu 37 13 32907344 32907344 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr13:32907344G>T ENST00000544455.1 + 10 1956 c.1729G>T c.(1729-1731)Gca>Tca p.A577S BRCA2_ENST00000380152.3_Missense_Mutation_p.A577S NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 577 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TTTGAAGAATGCAGGTTTAAT 0.338000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 9 45 3.09899e-07 3.98441e-07 0.004482 1 0 ZNF534 147658 broad.mit.edu 37 19 52937242 52937242 + Missense_Mutation SNP T T G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:52937242T>G ENST00000332323.6 + 2 111 c.50T>G c.(49-51)tTc>tGc p.F17C ZNF534_ENST00000301085.4_Missense_Mutation_p.F17C|ZNF534_ENST00000433050.1_Missense_Mutation_p.F17C|ZNF534_ENST00000432303.2_Missense_Mutation_p.F17C NM_001143939.1 NP_001137411.1 Q76KX8 ZN534_HUMAN zinc finger protein 534 17 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 GCCATAGAATTCTCTCAGGAG 0.453000 27 64 0 0 0.005443 0 0 PRSS58 136541 broad.mit.edu 37 7 141952344 141952344 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:141952344G>T ENST00000552471.1 - 4 843 c.524C>A c.(523-525)aCg>aAg p.T175K PRSS58_ENST00000547058.2_Missense_Mutation_p.T175K Q8IYP2 PRS58_HUMAN protease, serine, 58 175 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 CATATTTTCCGTGATGTTGTA 0.433000 28 75 1.88708e-17 3.23941e-17 0.008361 1 0 ABCC8 6833 broad.mit.edu 37 11 17419927 17419927 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:17419927G>A ENST00000302539.4 - 30 3840 c.3715C>T c.(3715-3717)Ctc>Ttc p.L1239F ABCC8_ENST00000389817.3_Missense_Mutation_p.L1238F NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1238 ABC transmembrane type-1 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GTGAGGAAGAGGGAAGCAATG 0.552000 5 74 0 0 0.001984 0 0 RAI2 10742 broad.mit.edu 37 X 17818712 17818712 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:17818712G>T ENST00000545871.1 - 3 1879 c.1419C>A c.(1417-1419)tcC>tcA p.S473S RAI2_ENST00000451717.1_Silent_p.S473S|RAI2_ENST00000415486.3_Silent_p.S423S|RAI2_ENST00000360011.1_Silent_p.S473S|RAI2_ENST00000331511.1_Silent_p.S473S NM_001172739.1|NM_001172743.1 NP_001166210.1|NP_001166214.1 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 473 embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) CCTGAAGCACGGAGTCTTCTC 0.478000 38 276 1.69901e-12 2.64291e-12 0.005524 1 0 OR5D14 219436 broad.mit.edu 37 11 55563449 55563449 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:55563449C>A ENST00000335605.1 + 1 418 c.418C>A c.(418-420)Cag>Aag p.Q140K NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) GGCCATGTCACAGAGGCTCTG 0.537000 19 86 1.67942e-08 2.29508e-08 0.006122 1 0 CNOT1 23019 broad.mit.edu 37 16 58608961 58608961 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr16:58608961C>T ENST00000317147.5 - 15 2109 c.1777G>A c.(1777-1779)Gaa>Aaa p.E593K CNOT1_ENST00000441024.2_Missense_Mutation_p.E593K|CNOT1_ENST00000569240.1_Missense_Mutation_p.E593K NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 593 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TTGAGGTATTCACGACGTGAA 0.393000 8 71 0 0 0.003080 0 0 GJB4 127534 broad.mit.edu 37 1 35227283 35227283 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:35227283C>A ENST00000339480.1 + 2 798 c.428C>A c.(427-429)gCt>gAt p.A143D RP1-34M23.5_ENST00000542839.1_RNA NM_153212.2 NP_694944.1 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4, 30.3kDa 143 cell communication connexon complex|integral to membrane gap junction channel activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) GCCGTGGATGCTGGCTTCCTC 0.607000 17 44 2.48551e-13 3.95421e-13 0.004990 1 0 BTBD17 388419 broad.mit.edu 37 17 72356255 72356255 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:72356255G>T ENST00000375366.3 - 2 341 c.215C>A c.(214-216)gCg>gAg p.A72E NM_001080466.1 NP_001073935.1 A6NE02 BTBDH_HUMAN BTB (POZ) domain containing 17 72 BTB. extracellular region endometrium(1)|kidney(1)|lung(4) 6 ATCGGTGCCCGCAGCCTGCAC 0.662000 12 30 2.27111e-07 2.96232e-07 0.001368 1 0 GABRA2 2555 broad.mit.edu 37 4 46264116 46264116 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:46264116G>T ENST00000510861.1 - 9 1059 c.886C>A c.(886-888)Cta>Ata p.L296I GABRA2_ENST00000515082.1_Missense_Mutation_p.L296I|GABRA2_ENST00000514090.1_Missense_Mutation_p.L296I|GABRA2_ENST00000381620.4_Missense_Mutation_p.L296I|GABRA2_ENST00000540012.1_Missense_Mutation_p.L241I|GABRA2_ENST00000507069.1_Missense_Mutation_p.L296I|GABRA2_ENST00000356504.1_Missense_Mutation_p.L296I P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 296 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTGATGCTTAGAGTTGTCATT 0.418000 4 22 0.00024832 0.000280361 0.009096 1 0 FAM47C 442444 broad.mit.edu 37 X 37027649 37027649 + Missense_Mutation SNP C C T rs148424680 byFrequency TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:37027649C>T ENST00000358047.3 + 1 1218 c.1166C>T c.(1165-1167)cCt>cTt p.P389L NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 389 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 CGCGTACCTCCTCTCCGCCCA 0.617000 35 85 0 0 0.003755 0 0 RPAP1 26015 broad.mit.edu 37 15 41820069 41820069 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:41820069G>T ENST00000304330.4 - 11 1533 c.1417C>A c.(1417-1419)Cct>Act p.P473T RPAP1_ENST00000561603.1_Missense_Mutation_p.P473T NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 473 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) TCATCTCCAGGAGCCACCAGC 0.582000 4 49 1.23904e-05 1.49539e-05 0.000602 1 0 CYP11B2 1585 broad.mit.edu 37 8 143994821 143994821 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:143994821G>T ENST00000323110.2 - 6 1003 c.1001C>A c.(1000-1002)cCc>cAc p.P334H NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 334 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) CTGCACGTCGGGGTTCCGAGC 0.637000 Familial Hyperaldosteronism type I 33 86 1.36161e-19 2.45091e-19 0.004289 1 0 CAPN5 726 broad.mit.edu 37 11 76833670 76833670 + Nonsense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:76833670C>A ENST00000278559.3 + 12 1841 c.1652C>A c.(1651-1653)tCg>tAg p.S551* CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Nonsense_Mutation_p.S591*|CAPN5_ENST00000529629.1_Nonsense_Mutation_p.S551* NM_004055.4 NP_004046.2 O15484 CAN5_HUMAN calpain 5 551 C2. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity p.S551L(1) NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 AAAGTCCGCTCGGCTGTGCAG 0.582000 21 39 8.10497e-08 1.07724e-07 0.010504 1 0 CCDC158 339965 broad.mit.edu 37 4 77272874 77272874 + Splice_Site SNP T T G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:77272874T>G ENST00000388914.3 - 16 2689 c.2538_splice c.e16+1 p.K846_splice NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 846 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 TGACCTTACTTTTATATCCAA 0.323000 6 21 0 0 0.001168 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37506637 37506637 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:37506637A>T ENST00000374660.1 + 39 3386 c.3287A>T c.(3286-3288)cAa>cTa p.Q1096L ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q977L|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.Q977L Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1089 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ACTTTAAACCAAGAAGAAGAG 0.289000 9 28 0 0 0.006214 0 0 CXCR3 2833 broad.mit.edu 37 X 70837092 70837092 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:70837092A>T ENST00000373691.4 - 2 534 c.371T>A c.(370-372)gTg>gAg p.V124E CXCR3_ENST00000373693.3_Missense_Mutation_p.V77E NM_001142797.1 NP_001136269.1 P49682 CXCR3_HUMAN chemokine (C-X-C motif) receptor 3 77 cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration cytoplasm|integral to plasma membrane C-X-C chemokine receptor activity breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2) 10 Renal(35;0.156) GCTCAGCAGCACGGCTGCCAC 0.662000 3 8 0 0 0.004672 0 0 MYADM 91663 broad.mit.edu 37 19 54377348 54377348 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:54377348G>T ENST00000391769.2 + 3 845 c.565G>T c.(565-567)Gcg>Tcg p.A189S MYADM_ENST00000391768.2_Missense_Mutation_p.A189S|MYADM_ENST00000391770.4_Missense_Mutation_p.A189S|MYADM_ENST00000391771.1_Missense_Mutation_p.A189S|MYADM_ENST00000336967.3_Missense_Mutation_p.A189S NM_001020821.1 NP_001018657.1 Q96S97 MYADM_HUMAN myeloid-associated differentiation marker 189 MARVEL 2. integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.0488) CATCATCTTCGCGTTCATCAG 0.652000 31 154 3.99451e-17 6.83842e-17 0.009535 1 0 AFF1 4299 broad.mit.edu 37 4 88035845 88035845 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:88035845C>T ENST00000307808.6 + 11 2259 c.1839C>T c.(1837-1839)gcC>gcT p.A613A AFF1_ENST00000395146.4_Silent_p.A620A|AFF1_ENST00000544085.1_Silent_p.A251A NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 613 nucleus sequence-specific DNA binding transcription factor activity p.A620A(1) breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) AGGCCTCTGCCCGGGCAGGTT 0.587000 21 51 0 0 0.008871 0 0 PRDM9 56979 broad.mit.edu 37 5 23527395 23527395 + Nonsense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:23527395C>A ENST00000296682.3 + 11 2380 c.2198C>A c.(2197-2199)tCa>tAa p.S733* NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 733 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AGCAATAAGTCACACCTCCTC 0.582000 HNSCC(3;0.000094) 29 135 6.4308e-24 1.19159e-23 0.003610 1 0 LRP1B 53353 broad.mit.edu 37 2 141806654 141806654 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:141806654G>A ENST00000389484.3 - 11 2661 c.1690C>T c.(1690-1692)Cac>Tac p.H564Y NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 564 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTTTCTGCGTGAAAGTCTAAA 0.438000 TSP Lung(27;0.18) 8 111 0 0 0.006214 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140784509 140784509 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:140784509A>T ENST00000573521.1 + 1 1990 c.1990A>T c.(1990-1992)Ata>Tta p.I664L PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACAGTAGCCATAGCTGACAG 0.592000 44 48 0 0 0.007835 0 0 GPRC5B 51704 broad.mit.edu 37 16 19883154 19883154 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr16:19883154C>A ENST00000300571.2 - 2 1205 c.1014G>T c.(1012-1014)atG>atT p.M338I GPRC5B_ENST00000569847.1_Missense_Mutation_p.M338I|GPRC5B_ENST00000537135.1_Missense_Mutation_p.M364I|GPRC5B_ENST00000535671.1_Missense_Mutation_p.M338I|GPRC5B_ENST00000569479.1_Missense_Mutation_p.M338I NM_016235.1 NP_057319.1 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, member B 338 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 TGTGTTCATCCATGGAGAAGG 0.587000 23 133 2.21704e-12 3.39837e-12 0.002780 1 0 OR4M2 390538 broad.mit.edu 37 15 22369217 22369217 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:22369217G>T ENST00000332663.2 + 1 740 c.642G>T c.(640-642)ctG>ctT p.L214L RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TGATTGCTCTGTTAATGTCCT 0.483000 46 421 1.56793e-16 2.65536e-16 0.003610 1 0 SLC22A8 9376 broad.mit.edu 37 11 62782359 62782359 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:62782359C>A ENST00000336232.2 - 2 207 c.72G>T c.(70-72)ctG>ctT p.L24L SLC22A8_ENST00000545207.1_Intron|SLC22A8_ENST00000311438.8_Silent_p.L24L|SLC22A8_ENST00000430500.2_Silent_p.L24L|SLC22A8_ENST00000535878.1_Intron NM_001184732.1|NM_001184736.1|NM_004254.3 NP_001171661.1|NP_001171665.1|NP_004245.2 Q8TCC7 S22A8_HUMAN solute carrier family 22 (organic anion transporter), member 8 24 response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 TCGGGAGGCCCAGTATGGCTA 0.607000 5 170 3.59834e-05 4.22151e-05 0.001168 1 0 C4orf17 84103 broad.mit.edu 37 4 100443848 100443848 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:100443848C>A ENST00000514652.1 + 3 673 c.319C>A c.(319-321)Cct>Act p.P107T C4orf17_ENST00000326581.4_Missense_Mutation_p.P107T|C4orf17_ENST00000503257.1_3'UTR Q53FE4 CD017_HUMAN chromosome 4 open reading frame 17 107 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3) 18 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) TGCCAAAGTGCCTCCACGGCC 0.498000 9 49 5.68852e-11 8.4324e-11 0.004482 1 0 MUC16 94025 broad.mit.edu 37 19 8976586 8976586 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:8976586G>A ENST00000397910.4 - 74 42593 c.42390C>T c.(42388-42390)tcC>tcT p.S14130S MUC16_ENST00000596956.1_5'UTR|MUC16_ENST00000380951.5_Silent_p.S771S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 14161 SEA 14. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTCACCTGAGGGAGATCAGTT 0.557000 9 16 0 0 0.004482 0 0 APBB3 10307 broad.mit.edu 37 5 139941196 139941196 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:139941196A>T ENST00000357560.4 - 8 1166 c.723T>A c.(721-723)agT>agA p.S241R APBB3_ENST00000508496.2_Missense_Mutation_p.S18R|APBB3_ENST00000511201.2_Missense_Mutation_p.S239R|APBB3_ENST00000356738.2_Missense_Mutation_p.S246R|APBB3_ENST00000358580.5_Missense_Mutation_p.S241R|APBB3_ENST00000412920.3_Missense_Mutation_p.S239R|APBB3_ENST00000354402.5_Missense_Mutation_p.S248R NM_006051.3|NM_133173.2 NP_006042.3|NP_573419.2 O95704 APBB3_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 3 241 PID 1. actin cytoskeleton|cytoplasm p.S248R(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATGTAGGGCACTGGCAATGG 0.542000 78 98 0 0 0.003610 0 0 PHLDB3 653583 broad.mit.edu 37 19 44001416 44001416 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:44001416C>A ENST00000292140.5 - 6 1039 c.679G>T c.(679-681)Gat>Tat p.D227Y PHLDB3_ENST00000599242.1_Missense_Mutation_p.D227Y NM_198850.3 NP_942147.3 Q6NSJ2 PHLB3_HUMAN pleckstrin homology-like domain, family B, member 3 227 p.D227Y(2) breast(1)|central_nervous_system(1)|lung(5) 7 Prostate(69;0.0153) TGGGCCACATCCAGTTGTTCC 0.622000 7 28 2.0095e-06 2.49701e-06 0.001984 1 0 SULT1A2 6799 broad.mit.edu 37 16 28604843 28604843 + Missense_Mutation SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr16:28604843T>C ENST00000395630.1 - 5 769 c.419A>G c.(418-420)tAc>tGc p.Y140C SULT1A2_ENST00000533150.1_Intron|SULT1A2_ENST00000335715.4_Missense_Mutation_p.Y140C NM_177528.2 NP_803564.1 P50226 ST1A2_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 140 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2) 14 GTAGAAGTGGTAGTAGGAAAC 0.577000 52 47 0 0 0.003610 0 0 DLGAP5 9787 broad.mit.edu 37 14 55643878 55643878 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr14:55643878C>T ENST00000247191.2 - 8 1167 c.951G>A c.(949-951)ctG>ctA p.L317L DLGAP5_ENST00000395425.2_Silent_p.L317L NM_014750.4 NP_055565.3 Q15398 DLGP5_HUMAN discs, large (Drosophila) homolog-associated protein 5 317 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 44 TCAGACCATCCAGTGGCTGAA 0.383000 18 34 0 0 0.006122 0 0 TMIGD2 126259 broad.mit.edu 37 19 4292808 4292808 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:4292808C>T ENST00000301272.2 - 5 682 c.637G>A c.(637-639)Ggg>Agg p.G213R TMIGD2_ENST00000600349.1_Missense_Mutation_p.G41R|TMIGD2_ENST00000600114.1_Missense_Mutation_p.G93R|TMIGD2_ENST00000595645.1_Missense_Mutation_p.G209R NM_001169126.1|NM_144615.2 NP_001162597.1|NP_653216.2 Q96BF3 TMIG2_HUMAN transmembrane and immunoglobulin domain containing 2 213 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2) 19 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) TGGTCCTTCCCCTCTCCAGAG 0.622000 53 42 0 0 0.003610 0 0 MAMLD1 10046 broad.mit.edu 37 X 149638377 149638377 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:149638377G>C ENST00000370401.2 + 4 842 c.532G>C c.(532-534)Gag>Cag p.E178Q MAMLD1_ENST00000426613.2_Missense_Mutation_p.E153Q|MAMLD1_ENST00000262858.5_Missense_Mutation_p.E178Q|MAMLD1_ENST00000432680.2_Missense_Mutation_p.E153Q Q13495 MAMD1_HUMAN mastermind-like domain containing 1 178 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) GGAGCTTCAAGAGCTGCTAGA 0.478000 17 170 0 0 0.004990 0 0 TPR 7175 broad.mit.edu 37 1 186324788 186324788 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:186324788C>A ENST00000367478.3 - 16 2297 c.2001G>T c.(1999-2001)gaG>gaT p.E667D TPR_ENST00000474852.1_5'UTR NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 667 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) CAGCCTTAGCCTCTATAGCCT 0.413000 T NTRK1 papillary thyroid 15 88 1.3612e-06 1.72547e-06 0.003163 1 0 TTC29 83894 broad.mit.edu 37 4 147741356 147741356 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:147741356A>G ENST00000513335.1 - 11 1299 c.1100T>C c.(1099-1101)gTg>gCg p.V367A TTC29_ENST00000325106.4_Missense_Mutation_p.V341A|TTC29_ENST00000398886.4_Missense_Mutation_p.V367A Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 341 binding breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) TGCAATTTTCACAAATTTTTT 0.343000 11 47 0 0 0.010729 0 0 MPPE1 65258 broad.mit.edu 37 18 11885720 11885720 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:11885720G>A ENST00000588072.1 - 10 2184 c.963C>T c.(961-963)gtC>gtT p.V321V MPPE1_ENST00000399978.2_Silent_p.V322V|MPPE1_ENST00000344987.7_Silent_p.V299V|MPPE1_ENST00000317235.7_Silent_p.V258V|MPPE1_ENST00000309976.9_Silent_p.V258V NM_023075.5 NP_075563.3 Q53F39 MPPE1_HUMAN metallophosphoesterase 1 321 ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 5 TGAAAGATGGGACGCTGAGCT 0.532000 6 41 0 0 0.001984 0 0 SLAMF9 89886 broad.mit.edu 37 1 159923135 159923135 + Missense_Mutation SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:159923135T>C ENST00000368093.3 - 2 471 c.355A>G c.(355-357)Atc>Gtc p.I119V SLAMF9_ENST00000368092.3_Missense_Mutation_p.I119V|SLAMF9_ENST00000466773.1_Intron NM_033438.3 NP_254273.2 Q96A28 SLAF9_HUMAN SLAM family member 9 119 integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ATGGTAGAGATCTGGGATGTT 0.498000 63 63 0 0 0.003610 0 0 ZNF98 148198 broad.mit.edu 37 19 22586258 22586258 + Nonsense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:22586258G>T ENST00000357774.5 - 2 208 c.87C>A c.(85-87)tgC>tgA p.C29* ZNF98_ENST00000601553.1_Nonsense_Mutation_p.C29* NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 29 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) CGGTGTCCAGGCATTGCCACT 0.413000 49 72 1.89013e-27 3.56521e-27 0.003610 1 0 DYNC2H1 79659 broad.mit.edu 37 11 103182692 103182692 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:103182692G>T ENST00000375735.2 + 79 11723 c.11579G>T c.(11578-11580)cGa>cTa p.R3860L DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3867L NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 3860 AAA 6 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity p.R1300Q(3)|p.R1300P(1) NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AATACACATCGAGCTCATGCT 0.358000 8 38 0.000274275 0.00030856 0.004482 1 0 HDC 3067 broad.mit.edu 37 15 50540498 50540498 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:50540498G>A ENST00000267845.3 - 10 1486 c.1084C>T c.(1084-1086)Ctc>Ttc p.L362F HDC_ENST00000543581.1_Intron NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 362 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) ACGAACCAGAGTTTAACAGAG 0.542000 17 45 0 0 0.004007 0 0 RPAP1 26015 broad.mit.edu 37 15 41822100 41822100 + Nonsense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:41822100G>A ENST00000304330.4 - 8 1137 c.1021C>T c.(1021-1023)Cag>Tag p.Q341* RPAP1_ENST00000561603.1_Nonsense_Mutation_p.Q341*|RPAP1_ENST00000568413.1_5'UTR NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 341 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GGCAAGTCCTGGGTCCAGTGG 0.612000 7 21 0 0 0.003080 0 0 MGAT5B 146664 broad.mit.edu 37 17 74921063 74921063 + Silent SNP G G A rs114240204 byFrequency TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:74921063G>A ENST00000569840.2 + 9 1615 c.1041G>A c.(1039-1041)ccG>ccA p.P347P MGAT5B_ENST00000428789.2_Silent_p.P358P|MGAT5B_ENST00000301618.4_Silent_p.P347P NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 347 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TAGGGGTACCGCCAGGCCGGG 0.607000 15 112 0 0 0.004007 0 0 TTN 7273 broad.mit.edu 37 2 179412568 179412568 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:179412568A>T ENST00000589042.1 - 339 94009 c.93785T>A c.(93784-93786)gTg>gAg p.V31262E TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V22322E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V28694E|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V29621E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V22389E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V22197E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29621 Fibronectin type-III 128. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTAATGCTCACTCGATCTGT 0.453000 6 47 0 0 0.001168 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766126 77766126 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:77766126G>A ENST00000521891.2 + 10 7417 c.6969G>A c.(6967-6969)agG>agA p.R2323R ZFHX4_ENST00000455469.2_Silent_p.R2278R|ZFHX4_ENST00000518282.1_Silent_p.R2297R|ZFHX4_ENST00000050961.6_Silent_p.R2278R NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2278 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTTTCCCCAGGATCTTTGACT 0.398000 HNSCC(33;0.089) 24 95 0 0 0.002299 0 0 IRX4 50805 broad.mit.edu 37 5 1878849 1878849 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:1878849G>T ENST00000505790.1 - 6 1250 c.794C>A c.(793-795)cCg>cAg p.P265Q IRX4_ENST00000513692.1_Missense_Mutation_p.P265Q|IRX4_ENST00000231357.2_Missense_Mutation_p.P265Q NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 265 heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) TGCTTCCAGCGGGTCGAAGTC 0.682000 17 29 3.41278e-10 4.95404e-10 0.004990 1 0 ABCD2 225 broad.mit.edu 37 12 40013091 40013091 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:40013091C>A ENST00000308666.3 - 1 462 c.327G>T c.(325-327)ctG>ctT p.L109L NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 109 ABC transmembrane type-1.|Interaction with PEX19. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 CCACTGAGTGCAGGCAGAGCC 0.438000 13 47 0.00136819 0.00149906 0.001368 1 0 REG3A 5068 broad.mit.edu 37 2 79386464 79386464 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:79386464T>A ENST00000393878.1 - 1 322 c.68A>T c.(67-69)cAg>cTg p.Q23L REG3A_ENST00000409839.3_Missense_Mutation_p.Q23L|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.Q23L NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 23 acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 ACCTTGAACCTGAGACAGCAG 0.527000 12 37 0 0 0.010729 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64617141 64617141 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:64617141G>T ENST00000498707.1 - 16 2721 c.2379C>A c.(2377-2379)gaC>gaA p.D793E ADAMTS9_ENST00000295903.4_Missense_Mutation_p.D765E NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 793 Spacer. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CTAAGTAGTTGTCATCGTCTG 0.483000 6 108 8.12818e-05 9.34445e-05 0.001984 1 0 ANKRD12 23253 broad.mit.edu 37 18 9255152 9255152 + Silent SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:9255152T>C ENST00000383440.2 + 8 2075 c.1818T>C c.(1816-1818)caT>caC p.H606H ANKRD12_ENST00000262126.3_Silent_p.H629H|ANKRD12_ENST00000400020.3_Silent_p.H606H NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 629 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 ATGAAGATCATAGTCCAACAT 0.289000 5 63 0 0 0.001168 0 0 DST 667 broad.mit.edu 37 6 56819367 56819367 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:56819367G>T ENST00000370754.5 - 1 18 c.19C>A c.(19-21)Ctc>Atc p.L7I Q03001 DYST_HUMAN dystonin 0 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AGCAAGACGAGGAAAGCCGCG 0.682000 7 14 8.12818e-05 9.34445e-05 0.001984 1 0 SLC23A2 9962 broad.mit.edu 37 20 4842670 4842670 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr20:4842670G>T ENST00000379333.1 - 15 1940 c.1548C>A c.(1546-1548)aaC>aaA p.N516K SLC23A2_ENST00000424750.2_Missense_Mutation_p.N402K|SLC23A2_ENST00000338244.1_Missense_Mutation_p.N516K NM_203327.1 NP_976072.1 Q9UGH3 S23A2_HUMAN solute carrier family 23 (ascorbic acid transporter), member 2 516 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 GCACAAAGAGGTTCCGGGAAG 0.468000 12 33 1.08611e-07 1.43448e-07 0.010729 1 0 NPR3 4883 broad.mit.edu 37 5 32780871 32780871 + Silent SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:32780871T>C ENST00000265074.8 + 5 1582 c.1239T>C c.(1237-1239)taT>taC p.Y413Y NPR3_ENST00000434067.2_Silent_p.Y197Y|NPR3_ENST00000415167.2_Silent_p.Y413Y|NPR3_ENST00000415685.2_Silent_p.Y197Y NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 413 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) GAGACCGATATGGGGATTTCT 0.552000 63 196 0 0 0.003610 0 0 MFNG 4242 broad.mit.edu 37 22 37882095 37882095 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr22:37882095G>C ENST00000356998.3 - 1 344 c.121C>G c.(121-123)Ctg>Gtg p.L41V MFNG_ENST00000416983.3_Missense_Mutation_p.L41V NM_002405.3 NP_002396.2 O00587 MFNG_HUMAN MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 41 pattern specification process extracellular space|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity large_intestine(2)|lung(2)|skin(1) 5 Melanoma(58;0.0574) GGCTGGCTCAGCTCGGGGGTC 0.652000 10 36 0 0 0.001368 0 0 MYOF 26509 broad.mit.edu 37 10 95116586 95116586 + Missense_Mutation SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:95116586T>C ENST00000371501.4 - 30 3262 c.3140A>G c.(3139-3141)gAc>gGc p.D1047G MYOF_ENST00000371502.4_Missense_Mutation_p.D1047G|MYOF_ENST00000359263.4_Missense_Mutation_p.D1047G|MYOF_ENST00000358334.5_Missense_Mutation_p.D1034G Q9NZM1 MYOF_HUMAN myoferlin 1047 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 GCCCTCTTGGTCTTGCAATTC 0.398000 9 23 0 0 0.008291 0 0 ZNF610 162963 broad.mit.edu 37 19 52869860 52869860 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:52869860G>T ENST00000601151.1 + 5 1552 c.1100G>T c.(1099-1101)gGg>gTg p.G367V ZNF610_ENST00000327920.8_Missense_Mutation_p.G410V|ZNF610_ENST00000403906.3_Missense_Mutation_p.G410V|ZNF610_ENST00000321287.8_Missense_Mutation_p.G410V NM_001161427.1 NP_001154899.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 410 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) AAAGTCTTTGGGCGCAAATTA 0.423000 7 35 0.00307968 0.00333367 0.003080 1 0 ZDHHC24 254359 broad.mit.edu 37 11 66311271 66311271 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:66311271C>T ENST00000310442.3 - 2 697 c.463G>A c.(463-465)Gtg>Atg p.V155M ZDHHC24_ENST00000525925.1_5'UTR|ZDHHC24_ENST00000526986.1_Missense_Mutation_p.V155M NM_207340.1 NP_997223.1 Q6UX98 ZDH24_HUMAN zinc finger, DHHC-type containing 24 155 Leu-rich. integral to membrane acyltransferase activity|zinc ion binding endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1) 7 CCCAGCAGCACAGAGACGTGG 0.692000 OREG0021110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 26 0 0 0.009096 0 0 KIAA1210 57481 broad.mit.edu 37 X 118221651 118221651 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:118221651C>A ENST00000402510.2 - 11 3541 c.3542G>T c.(3541-3543)gGc>gTc p.G1181V NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1181 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 GTTAGAAGTGCCTTCAACAGC 0.463000 7 53 1.26484e-09 1.80692e-09 0.003080 1 0 TMEM187 8269 broad.mit.edu 37 X 153247646 153247646 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:153247646G>A ENST00000369982.4 + 2 880 c.133G>A c.(133-135)Gtg>Atg p.V45M NM_003492.2 NP_003483.1 Q14656 TM187_HUMAN transmembrane protein 187 45 integral to membrane|transport vesicle breast(1)|large_intestine(1)|lung(1)|prostate(2) 5 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGAGGCGCCCGTGGCCGGCCT 0.662000 17 180 0 0 0.007413 0 0 CHRNB3 1142 broad.mit.edu 37 8 42586918 42586918 + Missense_Mutation SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:42586918C>G ENST00000289957.2 + 5 596 c.468C>G c.(466-468)gaC>gaG p.D156E NM_000749.3 NP_000740.1 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 3 (neuronal) 156 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) GCACCATGGACGTCACGTTTT 0.507000 8 46 0 0 0.003080 0 0 DLG1 1739 broad.mit.edu 37 3 196867097 196867097 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:196867097C>A ENST00000346964.2 - 9 915 c.726G>T c.(724-726)acG>acT p.T242T DLG1_ENST00000452595.1_Silent_p.T126T|DLG1_ENST00000450955.1_Silent_p.T209T|DLG1_ENST00000448528.2_Silent_p.T242T|DLG1_ENST00000443183.1_Silent_p.T126T|DLG1_ENST00000314062.3_Silent_p.T191T|DLG1_ENST00000422288.1_Silent_p.T191T|DLG1_ENST00000392382.2_Silent_p.T209T|DLG1_ENST00000357674.4_Silent_p.T209T|DLG1_ENST00000419354.1_Silent_p.T242T NM_004087.2 NP_004078.2 Q12959 DLG1_HUMAN discs, large homolog 1 (Drosophila) 242 PDZ 1. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) GTGGGTTGTCCGTACCTCCTG 0.428000 14 49 6.72482e-11 9.94516e-11 0.003163 1 0 MYOM2 9172 broad.mit.edu 37 8 2046747 2046747 + Missense_Mutation SNP G G T rs34863717 byFrequency TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:2046747G>T ENST00000262113.4 + 19 2515 c.2374G>T c.(2374-2376)Ggc>Tgc p.G792C MYOM2_ENST00000523438.1_Missense_Mutation_p.G217C NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 792 Fibronectin type-III 4. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CAACCTGGCCGGCATCGGGGA 0.562000 5 13 0.000602214 0.000670309 0.000602 1 0 ADAMTSL2 9719 broad.mit.edu 37 9 136405847 136405847 + Nonsense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:136405847C>A ENST00000393061.3 + 6 1299 c.867C>A c.(865-867)tgC>tgA p.C289* ADAMTSL2_ENST00000393060.1_Nonsense_Mutation_p.C180*|ADAMTSL2_ENST00000354484.4_Nonsense_Mutation_p.C180* Q86TH1 ATL2_HUMAN ADAMTS-like 2 180 negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06) GAGGGGTTTGCGTGTCTGGAA 0.637000 16 26 3.52763e-06 4.34064e-06 0.004990 1 0 WBP1L 54838 broad.mit.edu 37 10 104572996 104572996 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:104572996C>A ENST00000369889.4 + 4 1079 c.937C>A c.(937-939)Ccg>Acg p.P313T WBP1L_ENST00000448841.1_Missense_Mutation_p.P334T NM_017787.4 NP_060257.4 Q9NX94 OPA1L_HUMAN WW domain binding protein 1-like 313 integral to membrane GCCTGGGCACCCGCACCTGCC 0.662000 18 63 1.99824e-07 2.61723e-07 0.004990 1 0 OR6B1 135946 broad.mit.edu 37 7 143701161 143701161 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:143701161G>T ENST00000408922.2 + 1 140 c.72G>T c.(70-72)cgG>cgT p.R24R NM_001005281.1 NP_001005281.1 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, member 1 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) TGAGTATGCGGGCAGCCATGT 0.502000 19 41 3.8784e-16 6.51572e-16 0.012319 1 0 SLC10A3 8273 broad.mit.edu 37 X 153716440 153716440 + Missense_Mutation SNP G G T rs151043660 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:153716440G>T ENST00000263512.4 - 2 1338 c.840C>A c.(838-840)gaC>gaA p.D280E SLC10A3_ENST00000393586.1_Missense_Mutation_p.D335E|SLC10A3_ENST00000393587.4_Missense_Mutation_p.D280E|SLC10A3_ENST00000369649.4_Missense_Mutation_p.D251E NM_019848.3 NP_062822.1 P09131 P3_HUMAN solute carrier family 10, member 3 280 organic anion transport integral to membrane bile acid:sodium symporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCAGGGTGACGTCCCCTCCAA 0.622000 13 103 7.03913e-09 9.70383e-09 0.001368 1 0 CXorf57 55086 broad.mit.edu 37 X 105882817 105882817 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:105882817G>T ENST00000372548.4 + 9 1743 c.1634G>T c.(1633-1635)aGg>aTg p.R545M CXorf57_ENST00000372544.2_Intron NM_018015.5 NP_060485.4 Q6NSI4 CX057_HUMAN chromosome X open reading frame 57 545 NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 31 TTGCAGTATAGGGAACAAAAG 0.408000 15 118 2.23348e-06 2.76987e-06 0.004007 1 0 PAPPA 5069 broad.mit.edu 37 9 119106938 119106938 + Missense_Mutation SNP G G T rs142176678 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:119106938G>T ENST00000328252.3 + 14 4097 c.3728G>T c.(3727-3729)cGg>cTg p.R1243L PAPPA_ENST00000534838.1_Missense_Mutation_p.R281L NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1243 Sushi 1. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GTGAGCTGCCGGACAGGCTAC 0.582000 33 45 2.80507e-11 4.18767e-11 0.012213 1 0 MIR1303 100302284 broad.mit.edu 37 5 154065361 154065361 + RNA SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:154065361A>G ENST00000408625.1 + 0 26 NR_031638.1 cgagacctcaactctacaaTt 0.483000 17 17 0 0 0.004990 0 0 TRBC2 28638 broad.mit.edu 37 7 142498960 142498960 + RNA SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:142498960C>A ENST00000466254.1 + 0 236 TGAGCAGCCGCCTGAGGGTCT 0.622000 18 150 6.49762e-13 1.01576e-12 0.006122 1 0 NFASC 23114 broad.mit.edu 37 1 204985633 204985633 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:204985633C>T ENST00000367172.4 + 32 4338 c.4010C>T c.(4009-4011)aCg>aTg p.T1337M NFASC_ENST00000367169.4_Missense_Mutation_p.T1061M|NFASC_ENST00000401399.1_Missense_Mutation_p.T1230M|NFASC_ENST00000339876.6_Missense_Mutation_p.T1230M|NFASC_ENST00000367170.4_Missense_Mutation_p.T1258M|NFASC_ENST00000513543.1_Missense_Mutation_p.T1159M|NFASC_ENST00000338586.6_Missense_Mutation_p.T1214M|NFASC_ENST00000404907.1_Missense_Mutation_p.T1164M|NFASC_ENST00000404076.1_Missense_Mutation_p.T1147M|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000360049.4_Missense_Mutation_p.T1159M|NFASC_ENST00000367171.4_Missense_Mutation_p.T1322M|NFASC_ENST00000539706.1_Missense_Mutation_p.T1164M|NFASC_ENST00000338515.6_Missense_Mutation_p.T1247M O94856 NFASC_HUMAN neurofascin 1337 axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TCAGAGGCCACGTCACCTGTC 0.562000 35 47 0 0 0.003755 0 0 GPR65 8477 broad.mit.edu 37 14 88477216 88477216 + Missense_Mutation SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr14:88477216C>G ENST00000267549.3 + 2 583 c.25C>G c.(25-27)Cag>Gag p.Q9E RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 9 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 TATTGAAGAACAGCATGACCT 0.348000 OREG0031336 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 5 47 0 0 0.000602 0 0 ACTN2 88 broad.mit.edu 37 1 236881227 236881227 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:236881227T>A ENST00000366578.4 + 2 362 c.196T>A c.(196-198)Ttc>Atc p.F66I ACTN2_ENST00000542672.1_Missense_Mutation_p.F66I|ACTN2_ENST00000492634.1_3'UTR NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 66 Actin-binding.|CH 1. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CGAGGAAGACTTCAGGAATGG 0.463000 24 27 0 0 0.003330 0 0 IRS4 8471 broad.mit.edu 37 X 107977374 107977374 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:107977374C>A ENST00000372129.2 - 1 2277 c.2201G>T c.(2200-2202)cGa>cTa p.R734L NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 734 CRK-binding. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 AAAAGGGGATCGAGAGTGGCG 0.498000 20 170 8.00594e-06 9.79367e-06 0.007413 1 0 SRGAP2-AS1 100873165 broad.mit.edu 37 1 121137791 121137793 + RNA DEL CCA CCA - rs28552466 by1000genomes TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:121137791_121137793delCCA ENST00000437515.1 - 0 329 ATTTCGCCCTCCACCGCCGCCGC 0.631 7 18 --- --- --- --- NFASC 23114 broad.mit.edu 37 1 204978720 204978721 + Frame_Shift_Ins INS - - A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:204978720_204978721insA ENST00000367172.4 + 30 3974_3975 c.3646_3647insA c.(3646-3648)ctgfs p.L1216fs NFASC_ENST00000367171.4_Frame_Shift_Ins_p.L1201fs|NFASC_ENST00000404907.1_Frame_Shift_Ins_p.L1043fs|NFASC_ENST00000338586.6_Frame_Shift_Ins_p.L1093fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.L1043fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.L1038fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.L1038fs|NFASC_ENST00000367169.4_Frame_Shift_Ins_p.L940fs|NFASC_ENST00000404076.1_Frame_Shift_Ins_p.L1026fs|NFASC_ENST00000339876.6_Frame_Shift_Ins_p.L1109fs|NFASC_ENST00000401399.1_Frame_Shift_Ins_p.L1109fs|NFASC_ENST00000338515.6_Frame_Shift_Ins_p.L1126fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.L1137fs|NFASC_ENST00000495396.1_3'UTR O94856 NFASC_HUMAN neurofascin 1216 axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CGCCACCCAGGGCTGGTTCATT 0.589 17 115 --- --- --- --- CTNNA2 1496 broad.mit.edu 37 2 79878782 79878783 + Frame_Shift_Ins INS - - A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:79878782_79878783insA ENST00000466387.1 + 6 824_825 c.100_101insA c.(100-102)ggtfs p.G34fs CTNNA2_ENST00000496558.1_Frame_Shift_Ins_p.G34fs|CTNNA2_ENST00000402739.4_Frame_Shift_Ins_p.G34fs|CTNNA2_ENST00000361291.4_Frame_Shift_Ins_p.G68fs|CTNNA2_ENST00000541047.1_Frame_Shift_Ins_p.G34fs|CTNNA2_ENST00000540488.1_Frame_Shift_Ins_p.G34fs|CTNNA2_ENST00000409266.1_Frame_Shift_Ins_p.V34fs P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 34 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 ACTTGTTACACAGGTAAGGGAT 0.391 18 53 --- --- --- --- COL5A2 1290 broad.mit.edu 37 2 189904256 189904257 + Frame_Shift_Ins INS - - A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:189904256_189904257insA ENST00000374866.3 - 51 3940_3941 c.3666_3667insT c.(3664-3669)cccgggfs p.G1223fs NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 1223 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GGGGGACCCGGAGGGCCAGGTG 0.490 8 48 --- --- --- --- COL25A1 84570 broad.mit.edu 37 4 109861693 109861694 + Splice_Site INS - - C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:109861693_109861694insC ENST00000399132.1 - 10 1203 c.e10+1 COL25A1_ENST00000399127.1_Splice_Site|COL25A1_ENST00000399126.1_Splice_Site NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) AAAGCGACTCACGGGTACTCCT 0.599 25 112 --- --- --- --- DCHS2 54798 broad.mit.edu 37 4 155241794 155241794 + Frame_Shift_Del DEL G G - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:155241794delG ENST00000357232.3 - 14 3391 c.3392delC c.(3391-3393)aafs p.T1131fs NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1131 Cadherin 9. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TGCTGTTACTGTCAGGATGAC 0.483 39 150 --- --- --- --- DNAH5 1767 broad.mit.edu 37 5 13766239 13766239 + Frame_Shift_Del DEL G G - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:13766239delG ENST00000265104.4 - 59 10051 c.9947delC c.(9946-9948)ctfs p.P3316fs DNAH5_ENST00000504001.3_Intron NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3316 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) GATGAGGTGAGGGGGGCGGCC 0.532 Kartagener syndrome 71 135 --- --- --- --- THBS4 7060 broad.mit.edu 37 5 79372774 79372776 + In_Frame_Del DEL TGA TGA - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:79372774_79372776delTGA ENST00000350881.2 + 16 2179_2181 c.1989_1991delTGA c.(1987-1992)tgt>tg p.CD663del THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 663 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GTGACGAGTGTGATGATGATGAT 0.562 8 322 --- --- --- --- PCDHGA2 56113 broad.mit.edu 37 5 140719292 140719292 + Frame_Shift_Del DEL C C - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:140719292delC ENST00000394576.2 + 1 754 c.754delC c.(754-756)cgfs p.P252fs PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATAAGCATTCCGGAGAATAC 0.552 41 62 --- --- --- --- BTN3A1 11119 broad.mit.edu 37 6 26411336 26411336 + Splice_Site DEL G G - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:26411336delG ENST00000289361.6 + 8 1332 c.e8-1 BTN3A1_ENST00000476549.2_Splice_Site|BTN3A1_ENST00000425234.2_Splice_Site|BTN3A1_ENST00000414912.2_Splice_Site NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 lipid metabolic process integral to membrane breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 TTTCATTGTAGGGGGAGAGAG 0.393 12 141 --- --- --- --- TCP10 6953 broad.mit.edu 37 6 167791442 167791442 + Splice_Site DEL C C - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:167791442delC ENST00000366827.2 - 4 629 c.e4+1 TCP10_ENST00000397829.4_Splice_Site Q12799 TCP10_HUMAN t-complex 10 cytosol NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6) 18 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) CGAAGGGTCACCTTTGGAGGA 0.527 10 132 --- --- --- --- HECW1 23072 broad.mit.edu 37 7 43283514 43283514 + Frame_Shift_Del DEL C C - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:43283514delC ENST00000395891.1 + 3 615 c.10delC c.(10-12)acfs p.H4fs AC004692.4_ENST00000458680.1_RNA|HECW1_ENST00000453890.1_Frame_Shift_Del_p.H4fs|AC004692.4_ENST00000457315.1_RNA NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 4 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 TATGCTGCTGCACCTGTGTAG 0.448 21 63 --- --- --- --- ANK1 286 broad.mit.edu 37 8 41552150 41552150 + Frame_Shift_Del DEL G G - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:41552150delG ENST00000396942.1 - 28 3370 c.3287delC c.(3286-3288)cgfs p.P1096fs ANK1_ENST00000379758.2_Frame_Shift_Del_p.P1096fs|ANK1_ENST00000352337.4_Frame_Shift_Del_p.P1096fs|ANK1_ENST00000347528.4_Frame_Shift_Del_p.P1096fs|ANK1_ENST00000265709.8_Frame_Shift_Del_p.P1137fs|ANK1_ENST00000289734.7_Frame_Shift_Del_p.P1096fs|ANK1_ENST00000396945.1_Frame_Shift_Del_p.P1096fs P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1096 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton p.P1096L(1)|p.P1137L(1)|p.P1137R(1)|p.P1096R(1) breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GGCATTCTCCGGGAACGTTGC 0.632 7 24 --- --- --- --- OR51M1 390059 broad.mit.edu 37 11 5410741 5410741 + Frame_Shift_Del DEL G G - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:5410741delG ENST00000328611.3 + 1 135 c.113delG c.(112-114)tgfs p.W38fs HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA NM_001004756.2 NP_001004756.2 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, member 1 38 integral to membrane olfactory receptor activity NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATCAAACACTGGATTTTCATC 0.423 12 175 --- --- --- --- TRIM51HP 440041 broad.mit.edu 37 11 55063008 55063008 + RNA DEL G G - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:55063008delG ENST00000526016.1 - 0 629 NR_038174.2 AAAGCTCCCTGGAATGTTCCA 0.428 9 30 --- --- --- --- NDRG2 57447 broad.mit.edu 37 14 21486164 21486164 + Frame_Shift_Del DEL G G - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr14:21486164delG ENST00000556147.1 - 15 1871 c.931delC c.(931-933)tgfs p.L311fs NDRG2_ENST00000554104.1_Frame_Shift_Del_p.L224fs|NDRG2_ENST00000360463.3_Frame_Shift_Del_p.L297fs|NDRG2_ENST00000554143.1_Frame_Shift_Del_p.L297fs|NDRG2_ENST00000553503.1_Frame_Shift_Del_p.L297fs|NDRG2_ENST00000298687.5_Frame_Shift_Del_p.L311fs|NDRG2_ENST00000397856.3_Frame_Shift_Del_p.L281fs|NDRG2_ENST00000397858.1_Frame_Shift_Del_p.L311fs|NDRG2_ENST00000555158.1_Frame_Shift_Del_p.L297fs|NDRG2_ENST00000298684.5_Frame_Shift_Del_p.L268fs|NDRG2_ENST00000397844.2_Frame_Shift_Del_p.L281fs|NDRG2_ENST00000397847.2_Frame_Shift_Del_p.L300fs|NDRG2_ENST00000397851.2_Frame_Shift_Del_p.L311fs|NDRG2_ENST00000397853.3_Frame_Shift_Del_p.L311fs|NDRG2_ENST00000397855.3_Frame_Shift_Del_p.L268fs|NDRG2_ENST00000403829.3_Frame_Shift_Del_p.L307fs|NDRG2_ENST00000350792.3_Frame_Shift_Del_p.L297fs Q9UN36 NDRG2_HUMAN NDRG family member 2 311 cell differentiation|nervous system development centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 23 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) ATGCCTTGCAGGAAGTACTTG 0.562 26 202 --- --- --- --- CSPG4P5 114817 broad.mit.edu 37 15 84958415 84958426 + RNA DEL CGAGGACATTGG CGAGGACATTGG - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:84958415_84958426delCGAGGACATTGG ENST00000558801.1 - 0 6303_6314 TCGGGCACCACGAGGACATTGGTGAGGACAGG 0.557 4 6 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20243404 20243405 + RNA DEL AC AC - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:20243404_20243405delAC ENST00000590606.1 - 0 188 CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA TCCCTGGAAAACACACACACAC 0.411 7 88 --- --- --- --- LRP3 4037 broad.mit.edu 37 19 33698115 33698116 + Frame_Shift_Ins INS - - A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:33698115_33698116insA ENST00000253193.7 + 7 2149_2150 c.1947_1948insA c.(1945-1950)gaccccfs p.D649fs NM_002333.3 NP_002324.2 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 3 649 receptor-mediated endocytosis coated pit|integral to membrane receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2) 15 Esophageal squamous(110;0.137) CTGCCCCCGACCCCCCAGCACC 0.743 5 6 --- --- --- --- HKR1 284459 broad.mit.edu 37 19 37854204 37854204 + Frame_Shift_Del DEL G G - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:37854204delG ENST00000591471.1 + 9 2329 c.688delG c.(688-690)ggfs p.G230fs HKR1_ENST00000541583.2_Frame_Shift_Del_p.G442fs|HKR1_ENST00000324411.4_Frame_Shift_Del_p.G503fs|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000589392.1_Frame_Shift_Del_p.G485fs|HKR1_ENST00000544914.1_Frame_Shift_Del_p.G230fs|HKR1_ENST00000392153.3_Frame_Shift_Del_p.G484fs P10072 HKR1_HUMAN HKR1, GLI-Kruppel zinc finger family member 503 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TACGGAGTGTGGGCGAGGCTT 0.532 14 78 --- --- --- --- HNRNPUL1 11100 broad.mit.edu 37 19 41798236 41798237 + Frame_Shift_Ins INS - - T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:41798236_41798237insT ENST00000392006.3 + 8 1259_1260 c.1086_1087insT c.(1084-1089)gctgggfs p.G363fs HNRNPUL1_ENST00000595018.1_Frame_Shift_Ins_p.G263fs|HNRNPUL1_ENST00000352456.3_Frame_Shift_Ins_p.G263fs|HNRNPUL1_ENST00000602130.1_Frame_Shift_Ins_p.G363fs|HNRNPUL1_ENST00000263367.3_Frame_Shift_Ins_p.G274fs|HNRNPUL1_ENST00000378215.4_Frame_Shift_Ins_p.G249fs|HNRNPUL1_ENST00000593587.1_Frame_Shift_Ins_p.G263fs NM_007040.3 NP_008971.2 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 363 B30.2/SPRY.|Necessary for interaction with TP53. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 29 AGAAGGAAGCCTTGGGGGGTCA 0.505 23 142 --- --- --- --- NCOA6 23054 broad.mit.edu 37 20 33330968 33330970 + In_Frame_Del DEL TGC TGC - rs140426729 byFrequency TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr20:33330968_33330970delTGC ENST00000374796.2 - 12 5660_5662 c.3090_3092delGCA c.(3088-3093)caa>ca p.QQ1030del NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1030 CREBBP-binding region.|Gln-rich.|NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CATCATTtgttgctgctgctgct 0.576 7 138 --- --- --- --- CTCFL 140690 broad.mit.edu 37 20 56094353 56094353 + Frame_Shift_Del DEL G G - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr20:56094353delG ENST00000426658.2 - 3 1496 c.835delC c.(835-837)acfs p.H279fs CTCFL_ENST00000423479.2_Frame_Shift_Del_p.H279fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.H279fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.H279fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.H279fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.H279fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.H279fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.H279fs|CTCFL_ENST00000539382.1_Frame_Shift_Del_p.H74fs|CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000502686.2_Frame_Shift_Del_p.H17fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.H279fs Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 279 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) TCACTGGTGTGAGTTTTCATA 0.458 16 68 --- --- --- --- LTN1 26046 broad.mit.edu 37 21 30313665 30313666 + Frame_Shift_Ins INS - - A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr21:30313665_30313666insA ENST00000361371.4 - 25 4508_4509 c.4358_4359insT c.(4357-4359)tggfs p.W1453fs LTN1_ENST00000389194.2_Frame_Shift_Ins_p.W1499fs NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 1453 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 GAATACACCCCAAAACATTTTC 0.366 64 47 --- --- --- --- GAB4 128954 broad.mit.edu 37 22 17472833 17472833 + Frame_Shift_Del DEL G G - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr22:17472833delG ENST00000400588.1 - 2 515 c.408delC c.(406-408)acfs p.T136fs GAB4_ENST00000523144.1_5'UTR NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 136 PH. breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) TGTCCTCCCTGGTCTCAGCCA 0.502 54 215 --- --- --- --- FANCB 2187 broad.mit.edu 37 X 14871289 14871289 + Splice_Site DEL C C - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:14871289delC ENST00000398334.1 - 6 1465 c.1197_splice c.e6-1 p.V400_splice FANCB_ENST00000324138.3_Splice_Site_p.V400_splice NM_001018113.1 NP_001018123.1 Q8NB91 FANCB_HUMAN Fanconi anemia, complementation group B 400 DNA repair nucleoplasm NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 Hepatocellular(33;0.183) GAAAAACAAACCTGTAAAGTA 0.308 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 9 28 --- --- --- --- MAGEA6 4105 broad.mit.edu 37 X 151870201 151870201 + Frame_Shift_Del DEL T T - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:151870201delT ENST00000329342.5 + 3 1116 c.891delT c.(889-891)ccfs p.P297fs NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 297 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) GTGGAGGACCTCGCATTTCCT 0.557 39 346 --- --- --- ---