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 PGBD1 84547 broad.mit.edu 37 6 28268649 28268649 + Nonsense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:28268649C>T ENST00000405948.2 + 7 1438 c.1018C>T c.(1018-1020)Cga>Tga p.R340* PGBD1_ENST00000259883.3_Nonsense_Mutation_p.R340* NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 340 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity p.R340R(1) endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 AGACATTACCCGAAAAGGGAG 0.483000 85 26 0 0 0.000147903 0 0 ACE 1636 broad.mit.edu 37 17 61561305 61561305 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr17:61561305G>A ENST00000290866.4 + 11 1706 c.1682G>A c.(1681-1683)cGg>cAg p.R561Q ACE_ENST00000428043.1_Missense_Mutation_p.R561Q NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 561 Peptidase M2 1. R -> W (in dbSNP:rs4314). arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GACATCTACCGGTCCACCAAG 0.607000 8 9 0 0 0.000274275 0 0 MVP 9961 broad.mit.edu 37 16 29842365 29842365 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr16:29842365C>T ENST00000357402.5 + 3 430 c.292C>T c.(292-294)Ccc>Tcc p.P98S MVP_ENST00000452209.2_Intron|MVP_ENST00000395353.1_Missense_Mutation_p.P98S NM_005115.4|NM_017458.3 NP_005106.2|NP_059447.2 Q14764 MVP_HUMAN major vault protein 98 mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1) 27 GGACCCCTTCCCCCTGTACCC 0.617000 8 8 0 0 0.000274275 0 0 OR6A2 8590 broad.mit.edu 37 11 6816406 6816406 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:6816406G>A ENST00000332601.3 - 1 722 c.534C>T c.(532-534)atC>atT p.I178I NM_003696.2 NP_003687.2 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, member 2 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 29 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AGTGGTTGATGATGTTGGGGC 0.463000 26 30 0 0 0.000184323 0 0 DDB2 1643 broad.mit.edu 37 11 47259440 47259440 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:47259440C>T ENST00000256996.4 + 8 1271 c.1076C>T c.(1075-1077)cCt>cTt p.P359L DDB2_ENST00000378601.3_3'UTR|DDB2_ENST00000378600.3_Missense_Mutation_p.P170L|DDB2_ENST00000378603.3_Missense_Mutation_p.P295L NM_000107.2 NP_000098.1 Q92466 DDB2_HUMAN damage-specific DNA binding protein 2, 48kDa 359 nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV nucleoplasm|protein complex damaged DNA binding|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1) 17 TACCCAGATCCTAATTTCAAA 0.488000 """Mis, N""" """skin basal cell, skin squamous cell, melanoma""" Direct reversal of damage;Nucleotide excision repair (NER) Xeroderma Pigmentosum 41 69 0 0 0.000509022 0 0 SERPINA5 5104 broad.mit.edu 37 14 95054239 95054239 + Silent SNP G G A rs146244413 TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr14:95054239G>A ENST00000329597.7 + 3 750 c.540G>A c.(538-540)acG>acA p.T180T SERPINA5_ENST00000554866.1_Silent_p.T180T|SERPINA5_ENST00000553780.1_Silent_p.T180T|SERPINA5_ENST00000554276.1_Silent_p.T180T NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 180 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity p.T180T(2) endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) CAAAGCAAACGAAGGGCAAGA 0.483000 48 62 0 0 0.000147903 0 0 CTSG 1511 broad.mit.edu 37 14 25042852 25042852 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr14:25042852G>A ENST00000216336.2 - 5 795 c.759C>T c.(757-759)acC>acT p.T253T NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 253 immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) GTCACAGGGGGGTCTCCATCT 0.502000 81 110 0 0 0.000147903 0 0 FAM194A 131831 broad.mit.edu 37 3 150403561 150403561 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:150403561C>T ENST00000295910.6 - 6 803 c.751G>A c.(751-753)Gaa>Aaa p.E251K FAM194A_ENST00000491361.1_Missense_Mutation_p.E105K NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 251 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GAGCTCTCTTCTTTGTATGCC 0.338000 26 30 0 0 0.000184323 0 0 GAGE10 643832 broad.mit.edu 37 X 49173731 49173731 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chrX:49173731C>T ENST00000407599.3 + 4 385 c.292C>T c.(292-294)Ctg>Ttg p.L98L NM_001098413.2 NP_001091883.2 A6NGK3 GAG10_HUMAN G antigen 10 98 breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 Ovarian(276;0.236) GGAGATGGGCCTGCCAAATCC 0.483000 78 6 0 0 0.000147903 0 0 MORC1 27136 broad.mit.edu 37 3 108705742 108705742 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:108705742G>A ENST00000232603.5 - 22 2324 c.2242C>T c.(2242-2244)Cct>Tct p.P748S MORC1_ENST00000483760.1_Missense_Mutation_p.P727S NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 748 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TTTAAAAGAGGAATTTCCTTT 0.279000 6 5 0 0 8.12818e-05 0 0 XKR6 286046 broad.mit.edu 37 8 10756350 10756350 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr8:10756350C>T ENST00000416569.2 - 3 1064 c.1038G>A c.(1036-1038)agG>agA p.R346R XKR6_ENST00000304437.2_Silent_p.R67R NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 346 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) TCTTGTCGTCCCTGGAGTCCC 0.557000 55 50 0 0 0.000147903 0 0 CTNNA3 29119 broad.mit.edu 37 10 67748450 67748450 + Splice_Site SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr10:67748450C>T ENST00000433211.1 - 16 2439 c.2265_splice c.e16+1 p.Q755_splice CTNNA3_ENST00000373744.4_Splice_Site_p.Q755_splice|CTNNA3_ENST00000373735.1_Splice_Site_p.Q94_splice NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 755 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 AGTAACTCACCTGATTAGCAA 0.378000 36 43 0 0 0.000191422 0 0 PREX2 80243 broad.mit.edu 37 8 69032459 69032459 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr8:69032459G>A ENST00000288368.4 + 29 3810 c.3533G>A c.(3532-3534)gGg>gAg p.G1178E NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1178 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 CTCCTAAAAGGGCAGGCTGTT 0.383000 44 70 0 0 0.000147903 0 0 COL7A1 1294 broad.mit.edu 37 3 48629347 48629347 + Missense_Mutation SNP T T A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:48629347T>A ENST00000328333.8 - 10 1448 c.1341A>T c.(1339-1341)gaA>gaT p.E447D COL7A1_ENST00000454817.1_Missense_Mutation_p.E447D NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 447 Fibronectin type-III 3.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CACGCCGCCATTCCAACCGGT 0.627000 63 43 0 0 0.000147903 0 0 CD81-AS1 101927682 broad.mit.edu 37 11 2356547 2356547 + RNA SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:2356547C>T ENST00000413483.1 - 0 407 RPL26P30_ENST00000602923.1_RNA TCTATTTATTCCTGCATTTTC 0.383000 13 12 0 0 0.000308642 0 0 FBXO41 150726 broad.mit.edu 37 2 73493768 73493768 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:73493768C>T ENST00000521871.1 - 3 1363 c.948G>A c.(946-948)gcG>gcA p.A316A FBXO41_ENST00000295133.5_Silent_p.A377A|FBXO41_ENST00000520530.2_Silent_p.A316A Q8TF61 FBX41_HUMAN F-box protein 41 316 intracellular protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1) 13 TGGCCTCCCGCGCCGCCGTCT 0.667000 26 45 0 0 0.00058488 0 0 DNAH11 8701 broad.mit.edu 37 7 21906245 21906245 + Missense_Mutation SNP G G T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:21906245G>T ENST00000328843.6 + 72 11706 c.11675G>T c.(11674-11676)aGa>aTa p.R3892I DNAH11_ENST00000409508.3_Missense_Mutation_p.R3885I Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3892 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 ATTCTTCTGAGAGCAATGCGC 0.413000 Kartagener syndrome 31 40 9.04072e-19 1.579e-17 0.00058488 1 0 MOG 4340 broad.mit.edu 37 6 29638086 29638086 + Nonsense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:29638086G>A ENST00000376894.4 + 6 739 c.621G>A c.(619-621)tgG>tgA p.W207* MOG_ENST00000431798.2_Intron|MOG_ENST00000483013.1_Intron|MOG_ENST00000376898.3_Nonsense_Mutation_p.W207*|MOG_ENST00000416766.2_Nonsense_Mutation_p.W169*|MOG_ENST00000376888.2_Nonsense_Mutation_p.W91*|MOG_ENST00000376917.3_Nonsense_Mutation_p.W207*|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000396701.2_Intron|MOG_ENST00000376891.4_Intron|MOG_ENST00000494692.1_Intron|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000396704.3_Intron|MOG_ENST00000490427.1_Intron Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein 207 cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 TGCCCTGCTGGAAGATAACCC 0.507000 67 180 0 0 0.000147903 0 0 PCDHGC4 56098 broad.mit.edu 37 5 140865557 140865557 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:140865557C>T ENST00000306593.1 + 1 817 c.817C>T c.(817-819)Ccc>Tcc p.P273S PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018928.2|NM_032406.1 NP_061751.1|NP_115782.1 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 42 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACCTGGGTCCCAGTGGTAA 0.537000 34 51 0 0 0.000409698 0 0 HFE2 148738 broad.mit.edu 37 1 145416872 145416872 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:145416872C>T ENST00000336751.5 + 4 1455 c.1217C>T c.(1216-1218)tCc>tTc p.S406F HFE2_ENST00000497365.1_Missense_Mutation_p.S180F|HFE2_ENST00000357836.5_Missense_Mutation_p.S293F|HFE2_ENST00000475797.1_Missense_Mutation_p.S180F NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 406 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GTTCCTCTTTCCTCAGCAACC 0.522000 50 66 0 0 0.000147903 0 0 DOCK7 85440 broad.mit.edu 37 1 63005462 63005462 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:63005462G>A ENST00000251157.5 - 26 3180 c.3147C>T c.(3145-3147)gtC>gtT p.V1049V DOCK7_ENST00000340370.5_Silent_p.V1018V NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1049 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 CAATCGTGCTGACAAGAGCTG 0.373000 20 24 0 0 0.000229342 0 0 SLIT3 6586 broad.mit.edu 37 5 168180945 168180945 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:168180945C>T ENST00000519560.1 - 17 2172 c.1753G>A c.(1753-1755)Gag>Aag p.E585K SLIT3_ENST00000332966.8_Missense_Mutation_p.E585K|SLIT3_ENST00000404867.3_Missense_Mutation_p.E585K NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 585 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGCATCAGCTCCTGCACGCTG 0.562000 9 14 0 0 0.000274275 0 0 VWA3B 200403 broad.mit.edu 37 2 98928668 98928668 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:98928668C>T ENST00000477737.1 + 28 3945 c.3741C>T c.(3739-3741)gcC>gcT p.A1247A VWA3B_ENST00000490947.2_3'UTR NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1247 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CCCAGACAGCCCACCTCCACT 0.582000 21 19 0 0 0.00047179 0 0 KIAA1210 57481 broad.mit.edu 37 X 118221520 118221520 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chrX:118221520G>A ENST00000402510.2 - 11 3672 c.3673C>T c.(3673-3675)Cct>Tct p.P1225S NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1225 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 GATTTGGAAGGAAGATTGGGA 0.453000 15 3 0 0 0.000422831 0 0 NOTCH2 4853 broad.mit.edu 37 1 120510169 120510169 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:120510169C>T ENST00000256646.2 - 8 1559 c.1340G>A c.(1339-1341)gGt>gAt p.G447D NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 447 EGF-like 11; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TCCTGCATAACCCTTCAGACA 0.478000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 161 196 0 0 0.000147903 0 0 POM121L9P 29774 broad.mit.edu 37 22 24658478 24658478 + RNA SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr22:24658478C>T ENST00000414583.2 + 0 2895 NR_003714.1 TTCAGCGTGCCTGCGATGGCG 0.567000 5 15 0 0 3.59834e-05 0 0 GNB4 59345 broad.mit.edu 37 3 179132722 179132722 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:179132722C>T ENST00000232564.3 - 6 667 c.381G>A c.(379-381)aaG>aaA p.K127K GNB4_ENST00000468623.1_Silent_p.K127K NM_021629.3 NP_067642.1 Q9HAV0 GBB4_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 4 127 cellular response to glucagon stimulus|energy reserve metabolic process plasma membrane signal transducer activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 16 all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237) CCTCTCTGGTCTTTAAGTTAT 0.473000 107 127 0 0 0.000147903 0 0 P2RY13 53829 broad.mit.edu 37 3 151046191 151046191 + Nonsense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:151046191C>T ENST00000325602.5 - 2 672 c.653G>A c.(652-654)tGg>tAg p.W218* MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron NM_176894.2 NP_795713.2 Q9BPV8 P2Y13_HUMAN purinergic receptor P2Y, G-protein coupled, 13 218 integral to membrane|plasma membrane p.W197L(1) biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278) AAAAACAGTCCAGAAAATAAA 0.353000 14 21 0 0 0.000422831 0 0 CFHR5 81494 broad.mit.edu 37 1 196952032 196952032 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:196952032C>T ENST00000367414.5 + 2 204 c.148C>T c.(148-150)Cca>Tca p.P50S CFHR5_ENST00000256785.4_Missense_Mutation_p.P26S NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 26 Sushi 1. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 TTGTGATTTTCCAAAAATACA 0.308000 14 34 0 0 0.000308642 0 0 PPP2R5E 5529 broad.mit.edu 37 14 63851163 63851163 + Splice_Site SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr14:63851163G>A ENST00000337537.3 - 12 1803 c.1202_splice c.e12+1 p.P401_splice PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000422769.2_Splice_Site_p.P325_splice|PPP2R5E_ENST00000555899.1_Splice_Site_p.P401_splice NM_006246.2 NP_006237.1 Q16537 2A5E_HUMAN protein phosphatase 2, regulatory subunit B', epsilon isoform 401 signal transduction cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1) 15 OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128) AAAACCTACGGATTCCAATGT 0.398000 53 58 0 0 0.000147903 0 0 KLK3 354 broad.mit.edu 37 19 51361716 51361716 + Splice_Site SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:51361716C>T ENST00000360617.3 + 4 495 c.493_splice c.e4-1 p.F165_splice KLK3_ENST00000326003.2_Splice_Site_p.F165_splice|KLK3_ENST00000593997.1_Splice_Site_p.F165_splice|KLK3_ENST00000597483.1_Splice_Site_p.F122_splice|KLK3_ENST00000595952.1_Splice_Site_p.F122_splice P07288 KLK3_HUMAN kallikrein-related peptidase 3 165 Peptidase S1. FLTP -> HLLYDQM (in Ref. 13; AA sequence). negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) GGCCCGTAGTCTTGACCCCAA 0.552000 63 60 0 0 0.000147903 0 0 TRPC5 7224 broad.mit.edu 37 X 111156002 111156002 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chrX:111156002G>A ENST00000262839.2 - 3 1335 c.417C>T c.(415-417)ttC>ttT p.F139F NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 139 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TGTCCGGTGTGAATTCAGAGA 0.488000 41 6 0 0 0.000589545 0 0 TSNARE1 203062 broad.mit.edu 37 8 143399925 143399925 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr8:143399925G>A ENST00000519651.1 - 5 410 c.307C>T c.(307-309)Ctg>Ttg p.L103L TSNARE1_ENST00000524325.1_Silent_p.L322L|TSNARE1_ENST00000307180.3_Silent_p.L322L|TSNARE1_ENST00000520166.1_Silent_p.L322L|TSNARE1_ENST00000518928.1_5'UTR Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 322 vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CTGCGCAGCAGCTCGGCCATC 0.652000 44 64 0 0 0.000147903 0 0 HYDIN 54768 broad.mit.edu 37 16 70871611 70871611 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr16:70871611C>T ENST00000393567.2 - 77 13374 c.13224G>A c.(13222-13224)ggG>ggA p.G4408G NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4408 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TGGTACCCTTCCCTTTGATTT 0.458000 16 26 0 0 0.000229342 0 0 IGHV3-15 28448 broad.mit.edu 37 14 106610746 106610746 + RNA SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr14:106610746G>A ENST00000390603.2 - 0 106 TAGCAGCAAGGAAAATCCAGC 0.463000 32 43 0 0 0.000191422 0 0 PDE4A 5141 broad.mit.edu 37 19 10568589 10568589 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:10568589G>A ENST00000380702.2 + 9 846 c.846G>A c.(844-846)acG>acA p.T282T PDE4A_ENST00000440014.2_Silent_p.T243T|PDE4A_ENST00000352831.6_Silent_p.T304T|PDE4A_ENST00000592685.1_Silent_p.T282T|PDE4A_ENST00000344979.3_Silent_p.T65T|PDE4A_ENST00000293683.5_Silent_p.T278T P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 304 signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) CATCACCCACGATGAAGGAAC 0.562000 21 28 0 0 0.00047179 0 0 NKAIN1 79570 broad.mit.edu 37 1 31655411 31655411 + Nonsense_Mutation SNP G G T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:31655411G>T ENST00000373736.2 - 5 504 c.498C>A c.(496-498)taC>taA p.Y166* NKAIN1_ENST00000398657.2_Nonsense_Mutation_p.Y95*|NKAIN1_ENST00000263693.1_Nonsense_Mutation_p.Y122* NM_024522.2 NP_078798.2 Q4KMZ8 NKAI1_HUMAN Na+/K+ transporting ATPase interacting 1 166 integral to membrane|plasma membrane breast(1)|cervix(1)|endometrium(1)|kidney(2)|ovary(1)|prostate(1) 7 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148) CTTTGCTCACGTAGCAGGCGA 0.637000 37 33 9.9191e-30 1.7352e-28 0.000374591 1 0 OR6C74 254783 broad.mit.edu 37 12 55641164 55641164 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:55641164C>T ENST00000343870.4 + 1 183 c.93C>T c.(91-93)ttC>ttT p.F31F NM_001005490.1 NP_001005490.1 A6NCV1 O6C74_HUMAN olfactory receptor, family 6, subfamily C, member 74 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 12 TCCTTTTTTTCACCTACATGT 0.378000 28 41 0 0 0.000117367 0 0 DUSP22 56940 broad.mit.edu 37 6 348142 348142 + Silent SNP A A G TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:348142A>G ENST00000419235.2 + 6 381 c.303A>G c.(301-303)gcA>gcG p.A101A DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000344450.5_Silent_p.A101A|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 101 Tyrosine-protein phosphatase. apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) TGGTGATCGCATACATCATGA 0.612000 36 199 0 0 0.000437636 0 0 EDC3 80153 broad.mit.edu 37 15 74967365 74967365 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr15:74967365G>A ENST00000315127.4 - 2 282 c.101C>T c.(100-102)aCc>aTc p.T34I EDC3_ENST00000426797.3_Missense_Mutation_p.T34I|EDC3_ENST00000568176.1_Missense_Mutation_p.T34I NM_001142444.1|NM_025083.3 NP_001135916.1|NP_079359.2 Q96F86 EDC3_HUMAN enhancer of mRNA decapping 3 34 Required for P-body targeting and interaction with DCP1A (By similarity). exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol protein binding|RNA binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 GAGAGAAATGGTCTGGCTGAC 0.493000 84 119 0 0 0.000147903 0 0 IGKV6D-41 28869 broad.mit.edu 37 2 90108540 90108540 + RNA SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:90108540C>T ENST00000390271.2 + 0 37 ATGGTGTCCCCGTTGCAATTC 0.403000 40 50 0 0 0.000125731 0 0 FAIM3 9214 broad.mit.edu 37 1 207087397 207087397 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:207087397C>T ENST00000367091.3 - 2 223 c.80G>A c.(79-81)gGg>gAg p.G27E FAIM3_ENST00000420007.2_Missense_Mutation_p.G27E|FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000528654.1_Intron NM_005449.4 NP_005440.1 O60667 FAIM3_HUMAN Fas apoptotic inhibitory molecule 3 27 anti-apoptosis|cellular defense response integral to membrane breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(84;0.201) GCCCAGCTCCCCCTCTACCTT 0.547000 42 47 0 0 0.000509022 0 0 OR4S2 219431 broad.mit.edu 37 11 55418847 55418847 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:55418847C>T ENST00000312422.2 + 1 468 c.468C>T c.(466-468)atC>atT p.I156I NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) ACTCCATTATCCAAGTGGCTC 0.433000 25 26 0 0 0.00047179 0 0 EPHB6 2051 broad.mit.edu 37 7 142566077 142566077 + Missense_Mutation SNP A A G TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:142566077A>G ENST00000392957.2 + 14 2784 c.1997A>G c.(1996-1998)gAt>gGt p.D666G EPHB6_ENST00000442129.1_Missense_Mutation_p.D666G|EPHB6_ENST00000411471.2_Missense_Mutation_p.D389G NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 666 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CGGGAAGTCGATCCTGCTTAT 0.592000 7 49 0 0 0.000157383 0 0 PPA2 27068 broad.mit.edu 37 4 106377875 106377875 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr4:106377875G>A ENST00000341695.5 - 2 215 c.185C>T c.(184-186)cCc>cTc p.P62L PPA2_ENST00000348706.5_Missense_Mutation_p.P62L|PPA2_ENST00000357415.4_Missense_Mutation_p.P62L|PPA2_ENST00000380004.2_Missense_Mutation_p.P62L|PPA2_ENST00000310267.7_Intron|PPA2_ENST00000354147.3_Intron|PPA2_ENST00000509426.1_5'UTR|PPA2_ENST00000432483.2_Missense_Mutation_p.P62L NM_176869.2 NP_789845.1 Q9H2U2 IPYR2_HUMAN pyrophosphatase (inorganic) 2 62 diphosphate metabolic process|tRNA aminoacylation for protein translation mitochondrial matrix inorganic diphosphatase activity|magnesium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1) 11 Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.03e-07) ATCATGAAAGGGGGAAATGTA 0.348000 58 78 0 0 0.000147903 0 0 ATP10A 57194 broad.mit.edu 37 15 25924935 25924935 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr15:25924935G>A ENST00000356865.6 - 21 4164 c.4053C>T c.(4051-4053)tcC>tcT p.S1351S NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 1351 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) AAGAAGGCTGGGACAGGGGCA 0.637000 22 44 0 0 0.000375601 0 0 DOCK3 1795 broad.mit.edu 37 3 51274960 51274960 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:51274960C>T ENST00000266037.9 + 21 2064 c.2041C>T c.(2041-2043)Cac>Tac p.H681Y NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 681 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CAAGTATTTTCACTTTCGACC 0.468000 20 16 0 0 0.00047179 0 0 BTD 686 broad.mit.edu 37 3 15686329 15686329 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:15686329C>T ENST00000383778.4 + 4 1264 c.906C>T c.(904-906)taC>taT p.Y302Y BTD_ENST00000303498.5_Silent_p.Y322Y|BTD_ENST00000437172.1_Silent_p.Y324Y|BTD_ENST00000449107.1_Silent_p.Y324Y P43251 BTD_HUMAN biotinidase 322 CN hydrolase. central nervous system development|epidermis development|nitrogen compound metabolic process extracellular space biotin carboxylase activity|biotinidase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 18 CCTTTTGGTACCATGACATGG 0.502000 28 44 0 0 0.000147802 0 0 HINT2 84681 broad.mit.edu 37 9 35813317 35813317 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr9:35813317G>A ENST00000259667.5 - 4 387 c.346C>T c.(346-348)Ctt>Ttt p.L116F HINT2_ENST00000474908.1_5'UTR NM_032593.2 NP_115982.1 Q9BX68 HINT2_HUMAN histidine triad nucleotide binding protein 2 116 HIT. apoptosis|steroid biosynthetic process mitochondrion hydrolase activity NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 7 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) TTGGCCACAAGGAGTAGGTGT 0.552000 OREG0019179 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 93 62 0 0 0.000147903 0 0 FAM83B 222584 broad.mit.edu 37 6 54806270 54806270 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:54806270C>T ENST00000306858.7 + 5 2617 c.2501C>T c.(2500-2502)tCc>tTc p.S834F NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 834 Poly-Ser. autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AAGCATTCTTCCTCATCGAAT 0.378000 7 16 0 0 0.000442599 0 0 PHRF1 57661 broad.mit.edu 37 11 609396 609396 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:609396C>T ENST00000264555.5 + 14 4068 c.3940C>T c.(3940-3942)Ctg>Ttg p.L1314L PHRF1_ENST00000413872.2_Silent_p.L1312L|PHRF1_ENST00000533464.1_Silent_p.L1310L|PHRF1_ENST00000416188.2_Silent_p.L1313L NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 1314 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 CCCAGCCAGCCTGGCCGTGGC 0.632000 6 12 0 0 8.12818e-05 0 0 KCNA1 3736 broad.mit.edu 37 12 5020851 5020851 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:5020851C>T ENST00000382545.3 + 2 1414 c.307C>T c.(307-309)Cgg>Tgg p.R103W KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 103 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CGGCCGCCTGCGGAGGCCGGT 0.617000 19 44 0 0 0.000295444 0 0 SLC4A3 6508 broad.mit.edu 37 2 220502344 220502344 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:220502344G>A ENST00000358055.3 + 17 3089 c.2577G>A c.(2575-2577)gaG>gaA p.E859E SLC4A3_ENST00000373760.2_Silent_p.E859E|SLC4A3_ENST00000317151.3_Silent_p.E859E|SLC4A3_ENST00000273063.6_Silent_p.E886E|SLC4A3_ENST00000373762.3_Silent_p.E886E P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 859 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACCCCCCTGAGGGGGCCCTGG 0.642000 9 20 0 0 0.000151284 0 0 VWA5A 4013 broad.mit.edu 37 11 123988943 123988943 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:123988943C>T ENST00000456829.2 + 5 545 c.294C>T c.(292-294)ttC>ttT p.F98F VWA5A_ENST00000392744.4_Silent_p.F114F|VWA5A_ENST00000392748.1_Silent_p.F98F|VWA5A_ENST00000361352.5_Silent_p.F98F|VWA5A_ENST00000360334.4_Silent_p.F98F|VWA5A_ENST00000449321.1_Silent_p.F98F NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 98 VIT. autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 ACCAGGCCTTCTTATTGGAGG 0.567000 18 31 0 0 7.07596e-05 0 0 RIOK2 55781 broad.mit.edu 37 5 96504523 96504523 + Missense_Mutation SNP A A T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:96504523A>T ENST00000283109.3 - 7 881 c.813T>A c.(811-813)gaT>gaA p.D271E RIOK2_ENST00000508447.1_Missense_Mutation_p.D271E|CTD-2215E18.1_ENST00000509481.1_Intron NM_018343.2 NP_060813.2 Q9BVS4 RIOK2_HUMAN RIO kinase 2 271 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2) 23 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) TCATAAAGAAATCTTTAATGC 0.318000 36 55 0 0 0.00058488 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140769605 140769605 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:140769605C>T ENST00000519479.1 + 1 2154 c.2154C>T c.(2152-2154)agC>agT p.S718S PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTCCTCCAGCCCCGCCTCCT 0.572000 72 123 0 0 0.000147903 0 0 ANO1 55107 broad.mit.edu 37 11 69995855 69995855 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:69995855G>A ENST00000355303.5 + 12 1603 c.1298G>A c.(1297-1299)cGa>cAa p.R433Q ANO1_ENST00000538023.1_Missense_Mutation_p.R433Q|ANO1_ENST00000530676.1_Missense_Mutation_p.R317Q|ANO1_ENST00000398543.2_Missense_Mutation_p.R317Q|ANO1_ENST00000531349.1_Missense_Mutation_p.R168Q|ANO1_ENST00000316296.5_Missense_Mutation_p.R405Q NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 433 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity p.R433Q(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 AAACAGATGCGACTCAACTAC 0.537000 10 12 0 0 0.00010058 0 0 CDH7 1005 broad.mit.edu 37 18 63511245 63511245 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr18:63511245G>A ENST00000536984.2 + 7 1873 c.1179G>A c.(1177-1179)ggG>ggA p.G393G CDH7_ENST00000323011.3_Silent_p.G393G|CDH7_ENST00000397968.2_Silent_p.G393G Q9ULB5 CADH7_HUMAN cadherin 7, type 2 393 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G393G(2) NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) CCCAGGTTGGGAATATCATTG 0.448000 19 43 0 0 0.000175454 0 0 AFF1 4299 broad.mit.edu 37 4 88029343 88029343 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr4:88029343C>T ENST00000307808.6 + 10 1808 c.1388C>T c.(1387-1389)tCa>tTa p.S463L AFF1_ENST00000395146.4_Missense_Mutation_p.S470L|AFF1_ENST00000544085.1_Missense_Mutation_p.S101L NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 463 nucleus sequence-specific DNA binding transcription factor activity 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) CCAGTGGCATCAGCACATTCC 0.483000 16 42 0 0 7.07596e-05 0 0 PITX2 5308 broad.mit.edu 37 4 111539826 111539826 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr4:111539826G>A ENST00000354925.2 - 7 2114 c.409C>T c.(409-411)Cgg>Tgg p.R137W PITX2_ENST00000355080.5_Missense_Mutation_p.R91W|PITX2_ENST00000394598.2_Missense_Mutation_p.R137W|PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000306732.3_Missense_Mutation_p.R144W|PITX2_ENST00000394595.3_Missense_Mutation_p.S68L NM_001204397.1 NP_001191326.1 Q99697 PITX2_HUMAN paired-like homeodomain 2 137 R -> P (in RIEG1). determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|endometrium(3)|large_intestine(1)|lung(5) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) CATTTGGCCCGACGATTCTTG 0.572000 34 36 0 0 0.000270559 0 0 TRIML1 339976 broad.mit.edu 37 4 189068082 189068082 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr4:189068082G>A ENST00000332517.3 + 6 1103 c.963G>A c.(961-963)ccG>ccA p.P321P TRIML1_ENST00000507581.1_3'UTR NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 321 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) CCGACAACCCGGAAAGATTTG 0.542000 28 41 0 0 0.000117367 0 0 IFT43 112752 broad.mit.edu 37 14 76525678 76525678 + Missense_Mutation SNP T T C TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr14:76525678T>C ENST00000314067.6 + 5 291 c.257T>C c.(256-258)cTc>cCc p.L86P IFT43_ENST00000238628.6_Intron NM_001102564.1 NP_001096034.1 Q96FT9 IFT43_HUMAN intraflagellar transport 43 homolog (Chlamydomonas) 86 cilium morphogenesis|intraflagellar retrograde transport endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 AGTTTCCGCCTCAGACCACAG 0.458000 26 32 0 0 0.000227799 0 0 RPL26L1 51121 broad.mit.edu 37 5 172396539 172396539 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:172396539G>A ENST00000521476.1 + 4 557 c.433G>A c.(433-435)Gaa>Aaa p.E145K RPL26L1_ENST00000265100.2_Missense_Mutation_p.E145K|RPL26L1_ENST00000519974.1_Missense_Mutation_p.E145K|RPL26L1_ENST00000519239.1_Missense_Mutation_p.E145K Q9UNX3 RL26L_HUMAN ribosomal protein L26-like 1 145 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1) 7 Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GAAAATGCAGGAATAAATAGA 0.388000 13 65 0 0 0.000422831 0 0 C1orf173 127254 broad.mit.edu 37 1 75038009 75038009 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:75038009C>T ENST00000326665.5 - 14 3603 c.3385G>A c.(3385-3387)Gaa>Aaa p.E1129K C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1129 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 ACAGGTGCTTCGTTCTCAGCA 0.468000 26 40 0 0 0.000586117 0 0 C17orf47 284083 broad.mit.edu 37 17 56619994 56619994 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr17:56619994G>A ENST00000321691.3 - 1 1735 c.1554C>T c.(1552-1554)ttC>ttT p.F518F RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA NM_001038704.2 NP_001033793.2 Q8NEP4 CQ047_HUMAN chromosome 17 open reading frame 47 518 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) TACCCAGGAAGAAAGCAGTAA 0.527000 67 134 0 0 0.000147903 0 0 OR8D2 283160 broad.mit.edu 37 11 124189444 124189444 + Missense_Mutation SNP G G C TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:124189444G>C ENST00000357438.2 - 1 740 c.650C>G c.(649-651)tCt>tGt p.S217C NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) GAAAGCATAAGAGATAAGGAC 0.448000 13 22 0 0 0.00010058 0 0 ANK3 288 broad.mit.edu 37 10 61846624 61846624 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr10:61846624C>T ENST00000280772.1 - 30 3750 c.3559G>A c.(3559-3561)Gaa>Aaa p.E1187K ANK3_ENST00000373827.2_Missense_Mutation_p.E1181K|ANK3_ENST00000503366.1_Missense_Mutation_p.E1188K|ANK3_ENST00000355288.2_Missense_Mutation_p.E321K NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1187 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 TTCACAATTTCATCTGGAACA 0.358000 7 26 0 0 8.12818e-05 0 0 PC 5091 broad.mit.edu 37 11 66617523 66617523 + Missense_Mutation SNP C C A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:66617523C>A ENST00000393960.1 - 20 3064 c.2783G>T c.(2782-2784)cGg>cTg p.R928L PC_ENST00000393955.2_Missense_Mutation_p.R928L|PC_ENST00000393958.2_Missense_Mutation_p.R928L|PC_ENST00000529047.1_Missense_Mutation_p.R48L NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 928 gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) GGCCTCTGCCCGGCTCAATCC 0.637000 8 84 0.000157383 0.00268393 0.000157383 1 0 CACNA1S 779 broad.mit.edu 37 1 201063042 201063042 + Nonsense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:201063042C>T ENST00000362061.3 - 3 592 c.366G>A c.(364-366)tgG>tgA p.W122* CACNA1S_ENST00000367338.3_Nonsense_Mutation_p.W122* NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 122 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CCAGCACATTCCAGCCACTGC 0.547000 26 33 0 0 0.000184323 0 0 CNGA1 1259 broad.mit.edu 37 4 47939760 47939760 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr4:47939760G>A ENST00000402813.3 - 10 1100 c.958C>T c.(958-960)Ctg>Ttg p.L320L CNGA1_ENST00000514170.1_Silent_p.L251L|CNGA1_ENST00000358519.4_Silent_p.L251L|CNGA1_ENST00000420489.2_Silent_p.L251L|CNGA1_ENST00000544810.1_Silent_p.L251L P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 251 S -> F (in RP49). response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 ATCAGTGACAGAACATCAAGT 0.323000 47 71 0 0 0.000147903 0 0 DCAF11 80344 broad.mit.edu 37 14 24592188 24592188 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr14:24592188C>T ENST00000446197.3 + 14 2135 c.1408C>T c.(1408-1410)Ctt>Ttt p.L470F DCAF11_ENST00000396936.1_Missense_Mutation_p.L370F|RP11-468E2.6_ENST00000558325.1_Missense_Mutation_p.P59L|DCAF11_ENST00000396941.4_Missense_Mutation_p.L444F|DCAF11_ENST00000559115.1_Missense_Mutation_p.L470F NM_025230.4 NP_079506.3 Q8TEB1 DCA11_HUMAN DDB1 and CUL4 associated factor 11 470 CUL4 RING ubiquitin ligase complex protein binding AGTGTACGACCTTCTAAGTGG 0.532000 24 38 0 0 0.000586117 0 0 CCDC33 80125 broad.mit.edu 37 15 74610969 74610969 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr15:74610969G>A ENST00000268082.4 + 1 59 c.39G>A c.(37-39)aaG>aaA p.K13K CCDC33_ENST00000398814.3_Intron|CCDC33_ENST00000321288.5_Intron|CCDC33_ENST00000558821.1_Silent_p.K13K Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 0 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CAGCCCCCAAGGCTGCCCCAG 0.622000 8 9 0 0 0.000274275 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101572563 101572563 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:101572563C>T ENST00000310954.6 - 13 2460 c.2174G>A c.(2173-2175)tGa>tAa p.*725* NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 0 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) TTTCCCATTTCACCCTTCTTT 0.378000 19 31 0 0 0.000175454 0 0 GPR123 84435 broad.mit.edu 37 10 134896165 134896165 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr10:134896165C>T ENST00000607359.1 + 6 1251 c.1251C>T c.(1249-1251)ggC>ggT p.G417G Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 0 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) AGACCCACGGCCTTGGCCTGA 0.607000 8 17 0 0 0.000157383 0 0 CFB 629 broad.mit.edu 37 6 31918923 31918923 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:31918923G>A ENST00000456570.1 + 27 3419 c.3364G>A c.(3364-3366)Gaa>Aaa p.E1122K CFB_ENST00000425368.2_Missense_Mutation_p.E620K|CFB_ENST00000556679.1_Missense_Mutation_p.E1122K|CFB_ENST00000477310.1_Missense_Mutation_p.E971K P00751 CFAB_HUMAN complement factor B 620 complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 TCGTCCAGAGGAAGAGCTGCT 0.507000 244 112 0 0 0.000147903 0 0 MUC16 94025 broad.mit.edu 37 19 9065925 9065925 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:9065925G>A ENST00000397910.4 - 3 21724 c.21521C>T c.(21520-21522)gCt>gTt p.A7174V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7176 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGATGCACAGCTTCTGTATT 0.498000 28 31 0 0 9.22233e-05 0 0 BRAF 673 broad.mit.edu 37 7 140453137 140453137 + Missense_Mutation SNP C C T rs121913227 TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:140453137C>T ENST00000288602.6 - 15 1858 c.1798G>A c.(1798-1800)Gtg>Atg p.V600M NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) CGAGATTTCACTGTAGCTAGA 0.363000 V600M(IGR1_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 64 10 0 0 0.000147903 0 0 PDE6B 5158 broad.mit.edu 37 4 657927 657927 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr4:657927C>T ENST00000255622.6 + 17 2089 c.2046C>T c.(2044-2046)atC>atT p.I682I PDE6B_ENST00000496514.1_Silent_p.I682I|PDE6B_ENST00000429163.2_Silent_p.I403I NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 682 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 TTCAGAAGATCGTGGATGAGT 0.607000 32 50 0 0 0.000132358 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12939556 12939556 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:12939556G>A ENST00000235349.5 - 4 1316 c.1246C>T c.(1246-1248)Cct>Tct p.P416S NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 416 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CGGGGGGCAGGATACAGCTCC 0.512000 123 182 0 0 0.000147903 0 0 DOCK8 81704 broad.mit.edu 37 9 418204 418204 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr9:418204C>T ENST00000432829.2 + 30 3949 c.3633C>T c.(3631-3633)tcC>tcT p.S1211S DOCK8_ENST00000382329.1_Silent_p.S746S|DOCK8_ENST00000469391.1_Silent_p.S1179S|DOCK8_ENST00000453981.1_Silent_p.S1279S NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1279 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TGCTGTCTTCCTTGGTATGTT 0.398000 174 120 0 0 0.000147903 0 0 EYA4 2070 broad.mit.edu 37 6 133789765 133789765 + Missense_Mutation SNP C C T rs41286200 by1000genomes TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:133789765C>T ENST00000367895.5 + 11 1330 c.866C>T c.(865-867)aCg>aTg p.T289M EYA4_ENST00000355167.3_Missense_Mutation_p.T289M|EYA4_ENST00000525849.1_Missense_Mutation_p.T266M|EYA4_ENST00000452339.2_Missense_Mutation_p.T235M|EYA4_ENST00000430974.2_Missense_Mutation_p.T235M|EYA4_ENST00000431403.2_Missense_Mutation_p.T289M|EYA4_ENST00000531901.1_Missense_Mutation_p.T289M|EYA4_ENST00000355286.6_Missense_Mutation_p.T266M NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 289 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) TCAGCATCAACGTATGGAGCG 0.418000 10 13 0 0 3.86212e-05 0 0 HOMER2 9455 broad.mit.edu 37 15 83544130 83544130 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr15:83544130C>T ENST00000304231.8 - 3 381 c.189G>A c.(187-189)ccG>ccA p.P63P HOMER2_ENST00000399166.2_Silent_p.P63P|HOMER2_ENST00000450735.2_Silent_p.P63P|HOMER2_ENST00000426485.1_Silent_p.P63P NM_199330.2 NP_955362.1 Q9NSB8 HOME2_HUMAN homer homolog 2 (Drosophila) 63 WH1. metabotropic glutamate receptor signaling pathway cell junction|cytoplasm|postsynaptic density|postsynaptic membrane p.P126P(1)|p.P63P(1) cervix(1)|endometrium(2)|lung(6) 9 AGGTCATATTCGGTGTGATTG 0.438000 16 28 0 0 0.000422831 0 0 NCOA3 8202 broad.mit.edu 37 20 46265098 46265098 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr20:46265098C>T ENST00000372004.3 + 12 2184 c.1968C>T c.(1966-1968)ccC>ccT p.P656P NCOA3_ENST00000371997.3_Silent_p.P666P|NCOA3_ENST00000341724.6_Silent_p.P666P|NCOA3_ENST00000371998.3_Silent_p.P656P NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 656 Ser-rich. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 TCACCAGCCCCTCTGGAGTCT 0.478000 27 39 0 0 0.000279167 0 0 CTSB 1508 broad.mit.edu 37 8 11710136 11710136 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr8:11710136C>T ENST00000353047.6 - 3 448 c.195G>A c.(193-195)ggG>ggA p.G65G CTSB_ENST00000434271.1_Silent_p.G65G|CTSB_ENST00000453527.2_Silent_p.G65G|CTSB_ENST00000415599.2_Silent_p.G65G|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000531089.1_Silent_p.G65G|CTSB_ENST00000533455.1_Silent_p.G65G|CTSB_ENST00000534510.1_Silent_p.G65G|CTSB_ENST00000530640.2_Silent_p.G65G|CTSB_ENST00000345125.3_Silent_p.G65G NM_001908.3 NP_001899.1 P07858 CATB_HUMAN cathepsin B 65 proteolysis|regulation of apoptosis|regulation of catalytic activity lysosome|melanosome cysteine-type endopeptidase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1) 16 all_epithelial(15;0.205) STAD - Stomach adenocarcinoma(15;0.00546) COAD - Colon adenocarcinoma(149;0.184) GTGGCTTGGGCCCACCCAGGA 0.587000 11 20 0 0 0.00010058 0 0 SYTL2 54843 broad.mit.edu 37 11 85436668 85436668 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:85436668C>T ENST00000359152.5 - 1 2403 c.2404G>A c.(2404-2406)Gag>Aag p.E802K SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.E278K|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.E278K|SYTL2_ENST00000389960.4_Intron NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 312 C2 2. intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) AATCTCCCCTCTTCCAGCTTA 0.443000 42 53 0 0 0.000147903 0 0 SLIT3 6586 broad.mit.edu 37 5 168250273 168250273 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:168250273G>A ENST00000519560.1 - 7 1040 c.621C>T c.(619-621)atC>atT p.I207I SLIT3_ENST00000332966.8_Silent_p.I207I|SLIT3_ENST00000404867.3_Silent_p.I207I NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 207 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACAGAGTTCGGATCTTCGGCA 0.512000 66 86 0 0 0.000147903 0 0 SPRY3 10251 broad.mit.edu 37 X 155004374 155004374 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chrX:155004374C>T ENST00000302805.2 + 2 1272 c.841C>T c.(841-843)Ccc>Tcc p.P281S NM_005840.1 NP_005831.1 O43610 SPY3_HUMAN sprouty homolog 3 (Drosophila) 281 multicellular organismal development|regulation of signal transduction cytoplasm|membrane all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGCACCCTTCCCCAAGGCCCA 0.547000 32 54 0 0 0.000339439 0 0 ITGB6 3694 broad.mit.edu 37 2 161052834 161052834 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:161052834G>A ENST00000283249.2 - 3 476 c.239C>T c.(238-240)tCc>tTc p.S80F ITGB6_ENST00000409967.2_Missense_Mutation_p.S80F|ITGB6_ENST00000428609.2_Missense_Mutation_p.S38F|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Missense_Mutation_p.S80F P18564 ITB6_HUMAN integrin, beta 6 80 cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 TTCTACTTGGGAGACAGGGTT 0.393000 78 90 0 0 0.000147903 0 0 DUSP22 56940 broad.mit.edu 37 6 348143 348143 + Missense_Mutation SNP T T C TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:348143T>C ENST00000419235.2 + 6 382 c.304T>C c.(304-306)Tac>Cac p.Y102H DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000344450.5_Missense_Mutation_p.Y102H|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 102 Tyrosine-protein phosphatase. apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) GGTGATCGCATACATCATGAC 0.612000 36 201 0 0 0.000509022 0 0 ZNF90 7643 broad.mit.edu 37 19 20215170 20215170 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:20215170C>T ENST00000418063.2 + 2 238 c.126C>T c.(124-126)ttC>ttT p.F42F ZNF90_ENST00000474284.1_Intron NM_007138.1 NP_009069.1 Q03938 ZNF90_HUMAN zinc finger protein 90 42 KRAB. Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|lung(2)|ovary(1)|skin(1) 5 ACCTGGTCTTCCTTGGTGAGG 0.368000 23 35 0 0 0.000375601 0 0 CELSR1 9620 broad.mit.edu 37 22 46835151 46835151 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr22:46835151G>A ENST00000262738.3 - 3 4340 c.4341C>T c.(4339-4341)ttC>ttT p.F1447F NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1447 Laminin G-like 1. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) ACTGGGGCGGGAAGCTCCTGG 0.657000 29 40 0 0 0.000184323 0 0 MYT1L 23040 broad.mit.edu 37 2 1893184 1893184 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:1893184C>T ENST00000399161.2 - 16 3096 c.2349G>A c.(2347-2349)cgG>cgA p.R783R MYT1L_ENST00000428368.2_Silent_p.R781R NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 783 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) AGCAGCTGTCCCGCGGCCTCT 0.612000 27 36 0 0 0.000279167 0 0 ASL 435 broad.mit.edu 37 7 65553802 65553802 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:65553802C>T ENST00000450043.1 + 2 32 c.32C>T c.(31-33)cCt>cTt p.P11L ASL_ENST00000304874.9_Silent_p.L243L|ASL_ENST00000395331.3_Silent_p.L243L|ASL_ENST00000395332.3_Silent_p.L243L|ASL_ENST00000380839.4_Silent_p.L217L AGCCGAGTTCCTGTTCTGGGC 0.607000 13 2 0 0 0.000219431 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215339 140215339 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:140215339G>A ENST00000525929.1 + 1 1371 c.1371G>A c.(1369-1371)caG>caA p.Q457Q PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.Q457Q|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTTCGCGCAGCCCGAGTATA 0.672000 32 52 0 0 0.000159656 0 0 COL4A3 1285 broad.mit.edu 37 2 228128547 228128547 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:228128547G>A ENST00000396578.3 + 21 1364 c.1202G>A c.(1201-1203)gGa>gAa p.G401E AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 401 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGCCTGAAAGGAAGTAAAGGG 0.522000 9 18 0 0 3.86212e-05 0 0 PRICKLE1 144165 broad.mit.edu 37 12 42860032 42860032 + Missense_Mutation SNP A A G TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:42860032A>G ENST00000455697.1 - 6 1024 c.739T>C c.(739-741)Tat>Cat p.Y247H PRICKLE1_ENST00000552240.1_Missense_Mutation_p.Y247H|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.Y247H|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.Y247H|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.Y247H NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) 247 LIM zinc-binding 2. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) TACTCCGCATAGAGAGACTCA 0.522000 31 45 0 0 0.000491102 0 0 NCKAP5 344148 broad.mit.edu 37 2 133541240 133541240 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:133541240G>A ENST00000409261.1 - 14 3517 c.3144C>T c.(3142-3144)acC>acT p.T1048T NCKAP5_ENST00000317721.6_Silent_p.T1048T|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1048 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 GGCGAGGAGAGGTTTTGGGGA 0.557000 31 42 0 0 0.000227799 0 0 OR4C12 283093 broad.mit.edu 37 11 50003384 50003384 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:50003384G>A ENST00000335238.4 - 1 687 c.654C>T c.(652-654)atC>atT p.I218I NM_001005270.2 NP_001005270.1 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, member 12 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 ATCTCAAGATGATCACATAGG 0.403000 12 7 0 0 6.40141e-05 0 0 ARL6IP1 23204 broad.mit.edu 37 16 18806848 18806848 + Nonsense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr16:18806848G>A ENST00000304414.7 - 4 557 c.346C>T c.(346-348)Cga>Tga p.R116* ARL6IP1_ENST00000562819.1_Intron|ARL6IP1_ENST00000546206.2_Nonsense_Mutation_p.R87*|RP11-1035H13.3_ENST00000567078.2_Nonsense_Mutation_p.R116* NM_015161.1 NP_055976.1 Q15041 AR6P1_HUMAN ADP-ribosylation factor-like 6 interacting protein 1 116 integral to membrane protein binding breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1) 11 GCTCTGCGTCGAGTTTTTACT 0.363000 30 44 0 0 0.000279167 0 0 DNAH3 55567 broad.mit.edu 37 16 20996810 20996810 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr16:20996810C>T ENST00000261383.3 - 48 7253 c.7254G>A c.(7252-7254)agG>agA p.R2418R DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2418 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CACGGCAGATCCTAGAGATGT 0.552000 31 36 0 0 0.000279167 0 0 LPA 4018 broad.mit.edu 37 6 161071500 161071500 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:161071500C>T ENST00000447678.1 - 3 199 c.79G>A c.(79-81)Gat>Aat p.D27N LPA_ENST00000316300.5_Missense_Mutation_p.D27N NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 2535 Kringle 1. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TGGTAGCAATCCTGGACCACA 0.433000 44 65 0 0 0.000589545 0 0 KALRN 8997 broad.mit.edu 37 3 123946845 123946845 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:123946845C>T ENST00000360013.3 + 2 203 c.76C>T c.(76-78)Cgg>Tgg p.R26W KALRN_ENST00000460856.1_Missense_Mutation_p.R26W|KALRN_ENST00000240874.3_Missense_Mutation_p.R26W NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 26 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 AGGGTCTTTTCGGAATGATGG 0.483000 58 76 0 0 0.000147903 0 0 EPB41L4B 54566 broad.mit.edu 37 9 112017848 112017848 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr9:112017848C>T ENST00000374566.3 - 11 1629 c.1112G>A c.(1111-1113)gGa>gAa p.G371E EPB41L4B_ENST00000374557.4_Missense_Mutation_p.G371E NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 371 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TTTGCTGTTTCCTGGCGTCCG 0.522000 33 4 0 0 0.000491102 0 0 UBTD2 92181 broad.mit.edu 37 5 171638918 171638918 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:171638918G>A ENST00000393792.2 - 3 1026 c.621C>T c.(619-621)ttC>ttT p.F207F NM_152277.2 NP_689490.2 Q8WUN7 UBTD2_HUMAN ubiquitin domain containing 2 207 Ubiquitin-like. cytoplasm p.F207F(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1) 10 Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TCAGCTCTTCGAACTTCATTT 0.493000 47 65 0 0 0.000147903 0 0 SLITRK3 22865 broad.mit.edu 37 3 164907672 164907672 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:164907672G>A ENST00000475390.1 - 2 1390 c.947C>T c.(946-948)tCt>tTt p.S316F SLITRK3_ENST00000241274.3_Missense_Mutation_p.S316F O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 316 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 AAAATGAACAGAGGATAGCAT 0.468000 HNSCC(40;0.11) 60 78 0 0 0.000147903 0 0 TFAP2A 7020 broad.mit.edu 37 6 10398686 10398686 + Silent SNP G G T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:10398686G>T ENST00000379613.3 - 7 1540 c.1284C>A c.(1282-1284)gcC>gcA p.A428A TFAP2A_ENST00000379608.3_Silent_p.A420A|TFAP2A_ENST00000379604.2_Silent_p.A426A|TFAP2A_ENST00000482890.1_Silent_p.A426A|TFAP2A_ENST00000319516.4_Silent_p.A422A P05549 AP2A_HUMAN transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 426 ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter centrosome|Golgi apparatus|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 13 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) CACTGCTTTTGGCGTTGTTGT 0.642000 11 793 3.52763e-06 6.04434e-05 0.000566183 1 0 COPG2 26958 broad.mit.edu 37 7 130147529 130147529 + RNA SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:130147529C>T ENST00000604965.1 + 0 29 GTCTCACCTTCAAGGGTTTTG 0.398000 24 252 0 0 0.000295444 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135721893 135721893 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:135721893C>T ENST00000264977.3 + 2 2170 c.1553C>T c.(1552-1554)tCt>tTt p.S518F PPP2R3A_ENST00000490467.1_Intron NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 518 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GATTTGGAATCTTTTTCACAG 0.368000 23 36 0 0 0.00047179 0 0 KCNB2 9312 broad.mit.edu 37 8 73480030 73480030 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr8:73480030C>T ENST00000523207.1 + 2 649 c.61C>T c.(61-63)Cct>Tct p.P21S NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 21 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) ACTTTCCCTTCCTCCAGAGCC 0.522000 45 47 0 0 0.000147903 0 0 OR2T8 343172 broad.mit.edu 37 1 248084415 248084415 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:248084415C>T ENST00000319968.4 + 1 96 c.96C>T c.(94-96)atC>atT p.I32I NM_001005522.1 NP_001005522.1 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, member 8 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 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) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TTCTGAGTATCGTTTTGACCT 0.483000 22 35 0 0 0.000147802 0 0 HCN1 348980 broad.mit.edu 37 5 45262553 45262553 + Nonsense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:45262553G>A ENST00000303230.4 - 8 2200 c.2143C>T c.(2143-2145)Cga>Tga p.R715* NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 715 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TGGAAAGTTCGAGCGGCCAGA 0.652000 18 16 0 0 9.7654e-05 0 0 SCN11A 11280 broad.mit.edu 37 3 38936092 38936092 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:38936092C>T ENST00000302328.3 - 15 2965 c.2767G>A c.(2767-2769)Gaa>Aaa p.E923K SCN11A_ENST00000450244.1_Missense_Mutation_p.E923K|SCN11A_ENST00000456224.3_Missense_Mutation_p.E923K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E923K NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 923 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ACGTCATCTTCCTCCTCCGCA 0.498000 56 122 0 0 0.000147903 0 0 CACNA1C 775 broad.mit.edu 37 12 2774773 2774773 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:2774773C>T ENST00000399655.1 + 36 4690 c.4425C>T c.(4423-4425)atC>atT p.I1475I CACNA1C_ENST00000399644.1_Silent_p.I1475I|CACNA1C_ENST00000406454.3_Silent_p.I1475I|CACNA1C_ENST00000399634.1_Silent_p.I1475I|CACNA1C_ENST00000399641.1_Silent_p.I1475I|CACNA1C_ENST00000399621.1_Silent_p.I1475I|CACNA1C_ENST00000399649.1_Silent_p.I1462I|CACNA1C_ENST00000402845.3_Silent_p.I1475I|CACNA1C_ENST00000399606.1_Silent_p.I1495I|CACNA1C_ENST00000399591.1_Silent_p.I1464I|CACNA1C_ENST00000399617.1_Silent_p.I1475I|CACNA1C_ENST00000335762.5_Silent_p.I1500I|CACNA1C_ENST00000344100.3_Silent_p.I1497I|CACNA1C_ENST00000399637.1_Silent_p.I1475I|CACNA1C_ENST00000399638.1_Silent_p.I1503I|CACNA1C_ENST00000347598.4_Silent_p.I1523I|CACNA1C_ENST00000399595.1_Silent_p.I1464I|CACNA1C_ENST00000327702.7_Silent_p.I1475I|CACNA1C_ENST00000399601.1_Silent_p.I1475I|CACNA1C_ENST00000399597.1_Silent_p.I1475I|CACNA1C_ENST00000399603.1_Silent_p.I1475I|CACNA1C_ENST00000399629.1_Silent_p.I1492I NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1523 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TAGCTGTCATCATGGACAACT 0.512000 35 37 0 0 0.000228196 0 0 DLEC1 9940 broad.mit.edu 37 3 38158039 38158039 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:38158039G>A ENST00000308059.6 + 28 3973 c.3952G>A c.(3952-3954)Gac>Aac p.D1318N DLEC1_ENST00000452631.2_Missense_Mutation_p.D1321N|DLEC1_ENST00000346219.3_Missense_Mutation_p.D1318N Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 1318 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CCCGCTGCGGGACCAAGCCGG 0.597000 33 59 0 0 0.000132358 0 0 TAB1 10454 broad.mit.edu 37 22 39824104 39824104 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr22:39824104C>T ENST00000216160.6 + 10 1285 c.1223C>T c.(1222-1224)tCc>tTc p.S408F TAB1_ENST00000331454.3_Missense_Mutation_p.S408F NM_006116.2 NP_006107.1 Q15750 TAB1_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 1 408 activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1) 14 GTGACCCTCTCCCTTGTCATG 0.622000 19 30 0 0 0.000229342 0 0 TBX18 9096 broad.mit.edu 37 6 85466540 85466540 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:85466540G>A ENST00000369663.5 - 4 984 c.647C>T c.(646-648)tCg>tTg p.S216L TBX18_ENST00000606784.1_Missense_Mutation_p.S58L|TBX18_ENST00000606521.1_5'UTR NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 216 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) TGGCACAGGCGAGTCAGCATT 0.502000 10 22 0 0 0.000442599 0 0 ATXN1 6310 broad.mit.edu 37 6 16327906 16327906 + Missense_Mutation SNP C C A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:16327906C>A ENST00000244769.4 - 8 1572 c.636G>T c.(634-636)caG>caT p.Q212H ATXN1_ENST00000436367.1_Missense_Mutation_p.Q212H NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 212 Poly-Gln. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) gctgctgctgctgatgctgat 0.672000 4 26 0.00024832 0.00422807 0.00024832 1 0 KRT3 3850 broad.mit.edu 37 12 53186124 53186124 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:53186124G>A ENST00000417996.2 - 5 1161 c.1087C>T c.(1087-1089)Cgc>Tgc p.R363C KRT3_ENST00000309505.3_Missense_Mutation_p.R363C NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 363 Linker 12.|Rod. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 TCCAGGGAGCGATTATTGTCC 0.522000 12 31 0 0 0.000151284 0 0 ITPR2 3709 broad.mit.edu 37 12 26810792 26810792 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:26810792C>T ENST00000381340.3 - 18 2456 c.2040G>A c.(2038-2040)gaG>gaA p.E680E NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 680 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) GGATGGAGCTCTCCATGGGGT 0.398000 26 27 0 0 9.22233e-05 0 0 OR6S1 341799 broad.mit.edu 37 14 21109418 21109418 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr14:21109418G>A ENST00000320704.3 - 1 432 c.433C>T c.(433-435)Cgt>Tgt p.R145C NM_001001968.1 NP_001001968.1 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, member 1 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) AAGGCCACACGAAAGCACACA 0.592000 7 15 0 0 8.12818e-05 0 0 PTPRB 5787 broad.mit.edu 37 12 70946612 70946612 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:70946612C>T ENST00000334414.6 - 21 5376 c.5332G>A c.(5332-5334)Gat>Aat p.D1778N PTPRB_ENST00000550857.1_Missense_Mutation_p.D1470N|PTPRB_ENST00000550358.1_Missense_Mutation_p.D1690N|PTPRB_ENST00000261266.5_Missense_Mutation_p.D1560N|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1470N|PTPRB_ENST00000451516.2_Missense_Mutation_p.D1470N NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1560 Tyrosine-protein phosphatase. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGAGTGGGATCGCATTTTCCA 0.423000 26 26 0 0 0.000147802 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564229 176564229 + Missense_Mutation SNP C C A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:176564229C>A ENST00000367662.3 + 3 2653 c.1489C>A c.(1489-1491)Cca>Aca p.P497T PAPPA2_ENST00000367661.3_Missense_Mutation_p.P497T NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 497 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TTTGCAGCCCCCACTCTGTGG 0.532000 20 22 3.62473e-10 6.24029e-09 0.000229342 1 0 IL21 59067 broad.mit.edu 37 4 123542159 123542159 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr4:123542159G>A ENST00000264497.3 - 1 65 c.8C>T c.(7-9)tCc>tTc p.S3F IL21-AS1_ENST00000417927.1_RNA NM_001207006.2|NM_021803.3 NP_001193935.1|NP_068575.1 Q9HBE4 IL21_HUMAN interleukin 21 80 cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction extracellular space cytokine activity|interleukin-2 receptor binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3) 8 GCCAGGACTGGATCTCATAAG 0.458000 23 22 0 0 0.000375601 0 0 PTCHD3 374308 broad.mit.edu 37 10 27687663 27687663 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr10:27687663G>A ENST00000438700.3 - 4 1981 c.1864C>T c.(1864-1866)Cat>Tat p.H622Y NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 622 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 TCCTGCACATGGAAACACCCA 0.373000 34 34 0 0 0.000132358 0 0 HIF3A 64344 broad.mit.edu 37 19 46825115 46825115 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:46825115C>T ENST00000339613.2 + 10 1314 c.1059C>T c.(1057-1059)ttC>ttT p.F353F HIF3A_ENST00000377670.4_Silent_p.F409F|HIF3A_ENST00000244303.6_Silent_p.F340F|HIF3A_ENST00000472815.1_Silent_p.F340F|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000300862.3_Silent_p.F407F|HIF3A_ENST00000420102.2_Silent_p.F358F|HIF3A_ENST00000600383.1_Silent_p.F340F Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) CCCGCCGTTTCTGCAGCCCTG 0.687000 29 42 0 0 0.000339439 0 0 SLC13A1 6561 broad.mit.edu 37 7 122769450 122769450 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:122769450G>A ENST00000194130.2 - 9 1057 c.1018C>T c.(1018-1020)Ctt>Ttt p.L340F SLC13A1_ENST00000539873.1_3'UTR NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 340 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) ATTGGCCCAAGCTTTTGGTAT 0.403000 30 10 0 0 0.000339439 0 0 KDM3B 51780 broad.mit.edu 37 5 137756405 137756405 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:137756405C>T ENST00000314358.5 + 15 3926 c.3726C>T c.(3724-3726)tcC>tcT p.S1242S KDM3B_ENST00000394866.1_Silent_p.S898S|KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000542866.1_Silent_p.S274S NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1242 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 AAGCAGGGTCCCTGAGGTCGG 0.458000 42 62 0 0 0.000147903 0 0 ITPR3 3710 broad.mit.edu 37 6 33652562 33652562 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:33652562G>A ENST00000374316.5 + 40 6209 c.5149G>A c.(5149-5151)Gac>Aac p.D1717N ITPR3_ENST00000605930.1_Missense_Mutation_p.D1717N Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 1717 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 CCTGGACCCAGACTGGTCGGC 0.627000 41 111 0 0 0.000589545 0 0 AKNAD1 254268 broad.mit.edu 37 1 109385790 109385790 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:109385790C>T ENST00000370001.3 - 6 1613 c.1345G>A c.(1345-1347)Gaa>Aaa p.E449K AKNAD1_ENST00000369995.3_Missense_Mutation_p.E449K|AKNAD1_ENST00000357393.4_Missense_Mutation_p.E156K|AKNAD1_ENST00000369994.1_Missense_Mutation_p.E449K NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 449 p.E449K(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 ATTGTTGATTCGTGCTTGTGG 0.488000 60 43 0 0 0.000147903 0 0 LTBP1 4052 broad.mit.edu 37 2 33174001 33174001 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:33174001G>A ENST00000404816.2 + 2 907 c.554G>A c.(553-555)aGg>aAg p.R185K LTBP1_ENST00000354476.3_Missense_Mutation_p.R185K Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 185 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GGCTCCCAGAGGTGCACCAAA 0.567000 45 50 0 0 0.000147903 0 0 RGMA 56963 broad.mit.edu 37 15 93595718 93595718 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr15:93595718G>A ENST00000329082.7 - 3 421 c.150C>T c.(148-150)atC>atT p.I50I RGMA_ENST00000556658.1_5'UTR|RGMA_ENST00000556087.1_Silent_p.I34I|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000557301.1_Silent_p.I58I|RGMA_ENST00000425933.2_Silent_p.I34I|RGMA_ENST00000555584.1_5'UTR|RGMA_ENST00000542321.2_Silent_p.I34I|RGMA_ENST00000543599.1_Silent_p.I34I|RGMA_ENST00000538818.1_5'UTR NM_020211.2 NP_064596.2 Q96B86 RGMA_HUMAN repulsive guidance molecule family member a 50 axon guidance anchored to membrane|endoplasmic reticulum|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 9 Lung NSC(78;0.0542)|all_lung(78;0.0786) BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108) TGCACTTGAGGATCTTGCACG 0.647000 10 12 0 0 0.00010058 0 0 TMEM108 66000 broad.mit.edu 37 3 133098855 133098855 + Silent SNP C C A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:133098855C>A ENST00000515826.1 + 3 423 c.300C>A c.(298-300)atC>atA p.I100I TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Silent_p.I100I|TMEM108_ENST00000393130.3_Silent_p.I100I Q6UXF1 TM108_HUMAN transmembrane protein 108 100 Pro-rich. integral to membrane p.I100M(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TCTCCACCATCGCTGCGACAG 0.662000 28 35 2.85442e-18 4.97733e-17 0.000339439 1 0 EML1 2009 broad.mit.edu 37 14 100406371 100406371 + Silent SNP C C T rs113496186 TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr14:100406371C>T ENST00000262233.6 + 22 2509 c.2370C>T c.(2368-2370)gtC>gtT p.V790V EML1_ENST00000334192.4_Silent_p.V809V|EML1_ENST00000327921.9_Silent_p.V778V NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 790 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) TCACCAATGTCGATTTCCTCT 0.557000 28 27 0 0 0.000117367 0 0 PSMG2 56984 broad.mit.edu 37 18 12706651 12706651 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr18:12706651C>T ENST00000317615.6 + 2 842 c.160C>T c.(160-162)Cca>Tca p.P54S RP11-973H7.2_ENST00000585331.1_RNA|PSMG2_ENST00000590217.1_Missense_Mutation_p.P54S NM_020232.4|NM_147163.1 NP_064617.2|NP_671692.1 Q969U7 PSMG2_HUMAN proteasome (prosome, macropain) assembly chaperone 2 54 proteasome assembly nucleus protein binding lung(1)|prostate(2)|skin(1) 4 TTGTCTTGTGCCAATGGTTGG 0.378000 31 87 0 0 0.000227799 0 0 ZNF560 147741 broad.mit.edu 37 19 9577475 9577475 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:9577475G>A ENST00000301480.4 - 10 2361 c.2148C>T c.(2146-2148)gaC>gaT p.D716D NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 716 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 CTTTCCCACAGTCCTTACATT 0.403000 25 40 0 0 9.22233e-05 0 0 CLCN1 1180 broad.mit.edu 37 7 143028681 143028681 + Missense_Mutation SNP C C A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:143028681C>A ENST00000343257.2 + 10 1189 c.1102C>A c.(1102-1104)Ctg>Atg p.L368M NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 368 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity p.L368V(1) breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) ATTTGTGTATCTGCATCGCCA 0.473000 99 18 2.05131e-73 3.60008e-72 0.000147903 1 0 KCNG4 93107 broad.mit.edu 37 16 84270359 84270359 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr16:84270359C>T ENST00000568181.1 - 2 853 c.733G>A c.(733-735)Gac>Aac p.D245N KCNG4_ENST00000308251.4_Missense_Mutation_p.D245N Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, member 4 245 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 GCCCTGAGGTCGGGCATGGTG 0.642000 14 12 0 0 0.000422831 0 0 CYP2C9 1559 broad.mit.edu 37 10 96748693 96748693 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr10:96748693C>T ENST00000260682.6 + 9 1393 c.1381C>T c.(1381-1383)Ctg>Ttg p.L461L NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 461 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) CCTGAAATCTCTGGTTGACCC 0.478000 25 22 0 0 0.000586117 0 0 DNAJC6 9829 broad.mit.edu 37 1 65858517 65858517 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:65858517C>T ENST00000395325.3 + 12 1858 c.1701C>T c.(1699-1701)acC>acT p.T567T DNAJC6_ENST00000371069.4_Silent_p.T624T|DNAJC6_ENST00000263441.7_Silent_p.T554T NM_014787.3 NP_055602.1 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 567 Pro-rich. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1) 39 CCACCTCCACCTCTGCGTCTC 0.517000 18 21 0 0 0.000175454 0 0 CHD4 1108 broad.mit.edu 37 12 6709001 6709001 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:6709001G>A ENST00000309577.6 - 10 1583 c.1420C>T c.(1420-1422)Cac>Tac p.H474Y CHD4_ENST00000544040.1_Missense_Mutation_p.H467Y|CHD4_ENST00000357008.2_Missense_Mutation_p.H474Y|CHD4_ENST00000544484.1_Missense_Mutation_p.H471Y Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 474 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TTCAGGCAGTGGATGTGGTAG 0.542000 31 41 0 0 0.00058488 0 0 PLXNA1 5361 broad.mit.edu 37 3 126708282 126708282 + Silent SNP C C T rs146246704 TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:126708282C>T ENST00000251772.4 + 1 846 c.777C>T c.(775-777)atC>atT p.I259I PLXNA1_ENST00000393409.2_Silent_p.I282I Q9UIW2 PLXA1_HUMAN plexin A1 282 Sema. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CGTCCAAGATCGTGCGGCTCT 0.602000 55 93 0 0 0.000147903 0 0 HECTD4 283450 broad.mit.edu 37 12 112638535 112638535 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:112638535G>A ENST00000550722.1 - 55 8431 c.8036C>T c.(8035-8037)cCt>cTt p.P2679L HECTD4_ENST00000430131.2_Missense_Mutation_p.P2403L|HECTD4_ENST00000377560.5_Missense_Mutation_p.P2653L NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 CATGTCAATAGGATACCAGTA 0.483000 34 31 0 0 0.000132358 0 0 CYP1A1 1543 broad.mit.edu 37 15 75012979 75012979 + Missense_Mutation SNP G G A rs41279188 byFrequency TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr15:75012979G>A ENST00000379727.3 - 7 1588 c.1390C>T c.(1390-1392)Cgc>Tgc p.R464C CYP1A1_ENST00000395049.4_Missense_Mutation_p.R435C|CYP1A1_ENST00000395048.2_Missense_Mutation_p.R464C|CYP1A1_ENST00000567032.1_Missense_Mutation_p.R464C P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 1 464 R -> C (in allele CYP1A1*9).|R -> S (in allele CYP1A1*5; dbSNP:rs41279188). cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) ACCTCCCAGCGGGCAATGGTC 0.542000 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 45 33 0 0 0.000437636 0 0 CLIP1 6249 broad.mit.edu 37 12 122862061 122862061 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:122862061C>T ENST00000358808.2 - 3 686 c.532G>A c.(532-534)Gaa>Aaa p.E178K CLIP1_ENST00000537178.1_Missense_Mutation_p.E178K|CLIP1_ENST00000361654.4_Missense_Mutation_p.E178K|CLIP1_ENST00000302528.7_Missense_Mutation_p.E178K|CLIP1_ENST00000540338.1_Missense_Mutation_p.E178K NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 178 Ser-rich. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) GCTGAAGGTTCCTTTGCTGCT 0.512000 93 90 0 0 0.000147903 0 0 DNM1P46 196968 broad.mit.edu 37 15 100331823 100331823 + RNA SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr15:100331823G>A ENST00000341853.1 - 0 2368 NR_003260.1 CAACCCAGAGGACCTGGAGAG 0.607000 15 28 0 0 0.000422831 0 0 RP11-909M7.3 0 broad.mit.edu 37 14 101438504 101438504 + RNA SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr14:101438504C>T ENST00000554693.2 + 0 299 SNORD114-14_ENST00000362723.1_RNA GTCTAGAACTCTGAGGTCCAA 0.403000 17 20 0 0 7.07596e-05 0 0 MAP4K1 11184 broad.mit.edu 37 19 39100288 39100288 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:39100288G>A ENST00000591517.1 - 13 982 c.954C>T c.(952-954)atC>atT p.I318I MAP4K1_ENST00000396857.2_Silent_p.I318I|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000586296.1_Silent_p.I318I|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000589130.1_Silent_p.I314I NM_007181.4 NP_009112.1 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase kinase 1 318 activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) GGGTGGATCTGATCCGCCGAG 0.607000 7 21 0 0 0.000274275 0 0 INTS8 55656 broad.mit.edu 37 8 95844400 95844400 + Missense_Mutation SNP C C A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr8:95844400C>A ENST00000523731.1 + 6 884 c.751C>A c.(751-753)Cag>Aag p.Q251K INTS8_ENST00000447247.1_Missense_Mutation_p.Q251K NM_017864.2 NP_060334.2 Q75QN2 INT8_HUMAN integrator complex subunit 8 251 snRNA processing integrator complex protein binding breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 28 Breast(36;1.05e-06) AATGCAGTGCCAGGTATTCAT 0.353000 8 193 0.000157383 0.00268393 0.000157383 1 0 VRK2 7444 broad.mit.edu 37 2 58358966 58358966 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:58358966G>A ENST00000435505.2 + 12 1445 c.700G>A c.(700-702)Gag>Aag p.E234K VRK2_ENST00000340157.4_Missense_Mutation_p.E234K|VRK2_ENST00000417641.2_Missense_Mutation_p.E234K|VRK2_ENST00000440705.2_Missense_Mutation_p.E211K|VRK2_ENST00000412104.2_Missense_Mutation_p.E234K Q86Y07 VRK2_HUMAN vaccinia related kinase 2 234 Protein kinase. integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 24 AAGTGACGTTGAGATCCTCGG 0.468000 23 40 0 0 0.00047179 0 0 OR4E2 26686 broad.mit.edu 37 14 22133916 22133916 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr14:22133916C>T ENST00000408935.1 + 1 620 c.620C>T c.(619-621)tCc>tTc p.S207F NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) GGAACCATCTCCCTCTCCTGT 0.493000 17 36 0 0 0.000566183 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147040675 147040675 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:147040675C>T ENST00000265272.5 - 3 930 c.463G>A c.(463-465)Gaa>Aaa p.E155K JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E113K|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E155K NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 155 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCGCAATTTCCTGTAAGAGC 0.552000 58 81 0 0 0.000147903 0 0 MMP24 10893 broad.mit.edu 37 20 33842501 33842501 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr20:33842501G>A ENST00000246186.6 + 4 846 c.761G>A c.(760-762)gGa>gAa p.G254E MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000454184.1_RNA NM_006690.3 NP_006681.1 Q9Y5R2 MMP24_HUMAN matrix metallopeptidase 24 (membrane-inserted) 254 proteolysis integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5) 14 BRCA - Breast invasive adenocarcinoma(18;0.00252) GGGATTGGAGGAGACACCCAC 0.552000 52 53 0 0 0.000147903 0 0 KCNH5 27133 broad.mit.edu 37 14 63447592 63447592 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr14:63447592C>T ENST00000322893.7 - 6 1208 c.940G>A c.(940-942)Gag>Aag p.E314K KCNH5_ENST00000394968.1_Missense_Mutation_p.E256K|KCNH5_ENST00000394964.2_Missense_Mutation_p.E256K|KCNH5_ENST00000420622.2_Missense_Mutation_p.E314K NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 314 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) AAACTTACCTCATCCACATTT 0.363000 14 25 0 0 0.000422831 0 0 CDH8 1006 broad.mit.edu 37 16 61687766 61687766 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr16:61687766G>A ENST00000577390.1 - 12 3100 c.2146C>T c.(2146-2148)Cca>Tca p.P716S CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Intron NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 716 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P716S(1) biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) ACACCATTTGGAACTGGAGCA 0.413000 24 42 0 0 0.000375601 0 0 TACC2 10579 broad.mit.edu 37 10 123845365 123845365 + Missense_Mutation SNP T T A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr10:123845365T>A ENST00000369005.1 + 4 3690 c.3350T>A c.(3349-3351)tTc>tAc p.F1117Y TACC2_ENST00000453444.2_Missense_Mutation_p.F1117Y|TACC2_ENST00000515603.1_Missense_Mutation_p.F1117Y|TACC2_ENST00000334433.3_Missense_Mutation_p.F1117Y|TACC2_ENST00000515273.1_Missense_Mutation_p.F1117Y|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1117 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CTTGCAAGTTTCCCATCAGCT 0.617000 15 43 0 0 0.000422831 0 0 CBX8 57332 broad.mit.edu 37 17 77769030 77769030 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr17:77769030G>A ENST00000269385.4 - 5 691 c.574C>T c.(574-576)Ccg>Tcg p.P192S NM_020649.2 NP_065700.1 Q9HC52 CBX8_HUMAN chromobox homolog 8 192 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex methylated histone residue binding breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1) 14 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CTGTCCCCCGGTGAGCTGGGC 0.667000 11 30 0 0 0.00010058 0 0 COL5A1 1289 broad.mit.edu 37 9 137622286 137622286 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr9:137622286C>T ENST00000371817.3 + 7 1543 c.1129C>T c.(1129-1131)Ccc>Tcc p.P377S NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 377 Nonhelical 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) GGCCGAAATTCCCACCAGCAC 0.617000 29 9 0 0 0.000279167 0 0 ASTN2 23245 broad.mit.edu 37 9 119204829 119204829 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr9:119204829G>A ENST00000313400.4 - 21 3601 c.3501C>T c.(3499-3501)ttC>ttT p.F1167F ASTN2_ENST00000361477.3_Silent_p.F219F|ASTN2_ENST00000361209.2_Silent_p.F1116F|ASTN2_ENST00000288520.5_Silent_p.F268F|ASTN2_ENST00000373996.3_Silent_p.F1163F|ASTN2_ENST00000341734.4_Silent_p.F219F O75129 ASTN2_HUMAN astrotactin 2 1167 Fibronectin type-III. integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CATACAGAGTGAACCTGCAGC 0.547000 26 6 0 0 0.000586117 0 0 EXOC5 10640 broad.mit.edu 37 14 57710979 57710979 + Silent SNP G G T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr14:57710979G>T ENST00000413566.2 - 4 728 c.369C>A c.(367-369)ccC>ccA p.P123P EXOC5_ENST00000340918.7_Intron|EXOC5_ENST00000556911.1_5'UTR NM_006544.3 NP_006535.1 O00471 EXOC5_HUMAN exocyst complex component 5 123 exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking cytoplasm breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 22 CCCGTTGTCTGGGTGTGTTTA 0.398000 6 95 0.000157383 0.00268393 0.000157383 1 0 PCDH8 5100 broad.mit.edu 37 13 53420893 53420893 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr13:53420893G>A ENST00000377942.3 - 1 1882 c.1679C>T c.(1678-1680)gCc>gTc p.A560V PCDH8_ENST00000338862.4_Missense_Mutation_p.A560V NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 560 Cadherin 5. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CGCGTAGATGGCTCCGGTAGC 0.687000 8 7 0 0 0.000442599 0 0 CACNA1E 777 broad.mit.edu 37 1 181724450 181724450 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:181724450C>T ENST00000526775.1 + 27 4014 c.3849C>T c.(3847-3849)atC>atT p.I1283I CACNA1E_ENST00000367567.4_Silent_p.I909I|CACNA1E_ENST00000358338.5_Silent_p.I1234I|CACNA1E_ENST00000357570.5_Silent_p.I1253I|CACNA1E_ENST00000367570.1_Silent_p.I1302I|CACNA1E_ENST00000360108.3_Silent_p.I1283I|CACNA1E_ENST00000367573.2_Silent_p.I1302I NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1302 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 TCATGTTCATCTTTGCTGTCA 0.483000 47 74 0 0 0.000147903 0 0 CLASP1 23332 broad.mit.edu 37 2 122165191 122165191 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:122165191G>A ENST00000263710.4 - 25 2914 c.2525C>T c.(2524-2526)tCc>tTc p.S842F CLASP1_ENST00000397587.3_Missense_Mutation_p.S822F|CLASP1_ENST00000455322.2_Missense_Mutation_p.S814F|CLASP1_ENST00000541377.1_Missense_Mutation_p.S820F|CLASP1_ENST00000409078.3_Missense_Mutation_p.S814F|CLASP1_ENST00000545861.1_Missense_Mutation_p.S589F|CLASP1_ENST00000541859.1_Missense_Mutation_p.S575F NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 842 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) ACCATTCCTGGAGCCATATGA 0.493000 50 50 0 0 0.000147903 0 0 PTCHD2 57540 broad.mit.edu 37 1 11589855 11589855 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:11589855C>T ENST00000294484.6 + 15 3079 c.2941C>T c.(2941-2943)Cgt>Tgt p.R981C PTCHD2_ENST00000389575.3_Missense_Mutation_p.R981C NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 981 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GCCCAAGGCCCGTCTCTCAGC 0.647000 22 22 0 0 0.000295444 0 0 BDP1 55814 broad.mit.edu 37 5 70819834 70819834 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:70819834C>T ENST00000358731.4 + 25 5719 c.5456C>T c.(5455-5457)tCt>tTt p.S1819F 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 1819 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) ACTATCTCTTCTACATCTGAG 0.388000 37 42 0 0 0.000191422 0 0 MED12L 116931 broad.mit.edu 37 3 150908650 150908650 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:150908650C>T ENST00000474524.1 + 13 1938 c.1900C>T c.(1900-1902)Cgg>Tgg p.R634W MED12L_ENST00000273432.4_Missense_Mutation_p.R494W|MED12L_ENST00000309237.4_Missense_Mutation_p.R634W|MED12L_ENST00000422248.2_Missense_Mutation_p.R634W NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 634 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGCCTCAACTCGGCCGCGGTC 0.517000 18 42 0 0 9.7654e-05 0 0 FBXO42 54455 broad.mit.edu 37 1 16583245 16583245 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:16583245G>A ENST00000375592.3 - 5 728 c.512C>T c.(511-513)cCt>cTt p.P171L NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 171 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) TTTGGGGGAAGGATAGGACCC 0.522000 15 17 0 0 7.07596e-05 0 0 TTN 7273 broad.mit.edu 37 2 179582773 179582773 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:179582773G>A ENST00000589042.1 - 86 25184 c.24960C>T c.(24958-24960)tcC>tcT p.S8320S TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.S8003S|TTN_ENST00000342992.6_Silent_p.S7076S|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8003 Ig-like 65. 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) TGATTACTAAGGAAGCAACGT 0.408000 11 28 0 0 6.40141e-05 0 0 HHIPL2 79802 broad.mit.edu 37 1 222717494 222717494 + Missense_Mutation SNP T T C TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:222717494T>C ENST00000343410.6 - 2 417 c.359A>G c.(358-360)gAa>gGa p.E120G NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 120 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) CTGGGTGTTTTCGGCGTCGTA 0.567000 139 171 0 0 0.000147903 0 0 TM4SF18 116441 broad.mit.edu 37 3 149042780 149042780 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:149042780G>A ENST00000296059.2 - 4 562 c.297C>T c.(295-297)ctC>ctT p.L99L TM4SF18_ENST00000470080.1_Silent_p.L99L|RP11-206M11.7_ENST00000489011.1_RNA NM_138786.3 NP_620141.1 Q96CE8 T4S18_HUMAN transmembrane 4 L six family member 18 99 integral to membrane lung(1)|ovary(1)|prostate(1) 3 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) AAGCAATTCCGAGGGAAGAAA 0.433000 8 21 0 0 0.000442599 0 0 CMPK2 129607 broad.mit.edu 37 2 6991691 6991691 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:6991691G>A ENST00000256722.5 - 4 1115 c.1116C>T c.(1114-1116)atC>atT p.I372I CMPK2_ENST00000458098.1_Intron|CMPK2_ENST00000478738.1_5'UTR|CMPK2_ENST00000404168.1_Silent_p.I372I NM_207315.3 NP_997198.2 Q5EBM0 CMPK2_HUMAN cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial 372 dTDP biosynthetic process mitochondrion ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TGAGCAGCAGGATAAGGTCAG 0.597000 39 63 0 0 0.000319135 0 0 ARSH 347527 broad.mit.edu 37 X 2933378 2933378 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chrX:2933378G>A ENST00000381130.2 + 4 708 c.708G>A c.(706-708)atG>atA p.M236I NM_001011719.1 NP_001011719.1 Q5FYA8 ARSH_HUMAN arylsulfatase family, member H 236 integral to membrane arylsulfatase activity|metal ion binding breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1) 34 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) AGCAGCCAATGAAAGAGGAGA 0.408000 18 1 0 0 9.7654e-05 0 0 PID1 55022 broad.mit.edu 37 2 229890519 229890519 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:229890519C>T ENST00000392054.3 - 4 915 c.576G>A c.(574-576)caG>caA p.Q192Q PID1_ENST00000392055.3_Silent_p.Q161Q|PID1_ENST00000409462.1_Silent_p.Q112Q|PID1_ENST00000354069.6_Silent_p.Q194Q|PID1_ENST00000482518.2_Intron NM_017933.4 NP_060403.3 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 194 PID. cytoplasm breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) GGCAGTCCATCTGGTAGGACA 0.587000 32 43 0 0 0.000409698 0 0 LGI2 55203 broad.mit.edu 37 4 25005432 25005432 + Nonsense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr4:25005432G>A ENST00000382114.4 - 8 1464 c.1279C>T c.(1279-1281)Cga>Tga p.R427* NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 427 extracellular region p.R427*(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) TTTTGCATTCGGAAGCTCTTC 0.522000 93 115 0 0 0.000147903 0 0 MEP1A 4224 broad.mit.edu 37 6 46803091 46803091 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:46803091C>T ENST00000230588.4 + 13 1898 c.1889C>T c.(1888-1890)tCg>tTg p.S630L NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 630 digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding p.S630L(1) NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) GAAGAAGGTTCGGGAAAGGCC 0.607000 12 24 0 0 0.00010058 0 0 PCDH17 27253 broad.mit.edu 37 13 58207873 58207873 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr13:58207873G>A ENST00000377918.3 + 1 1219 c.1193G>A c.(1192-1194)gGc>gAc p.G398D NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 398 Cadherin 4.|Gly-rich. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GGAGGGAcgggcggcggcggg 0.697000 4 7 0 0 0.00024832 0 0 ZNF733P 643955 broad.mit.edu 37 7 62758710 62758710 + RNA SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:62758710C>T ENST00000331425.6 - 0 167 NR_003952.1 TGAGCACAATCCAGGCATTGC 0.393000 14 19 0 0 0.000422831 0 0 TNXB 7148 broad.mit.edu 37 6 32010368 32010368 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:32010368G>A ENST00000375244.3 - 40 12275 c.12074C>T c.(12073-12075)cCc>cTc p.P4025L TNXB_ENST00000375247.2_Missense_Mutation_p.P4023L|TNXB_ENST00000451343.1_Missense_Mutation_p.P454L P22105 TENX_HUMAN tenascin XB 4070 Fibronectin type-III 32. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CCTGGGGAAGGGGATCCGCAG 0.701000 74 208 0 0 0.000147903 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128839225 128839225 + Missense_Mutation SNP C C G TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:128839225C>G ENST00000310343.9 - 22 5840 c.5841G>C c.(5839-5841)gaG>gaC p.E1947D ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E1598D|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E1598D NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1947 Interaction with FYN. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 GTCGCTCCATCTCTTTGGAGA 0.517000 40 38 0 0 0.000374591 0 0 PAPPA2 60676 broad.mit.edu 37 1 176734898 176734898 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:176734898C>T ENST00000367662.3 + 15 5412 c.4248C>T c.(4246-4248)ctC>ctT p.L1416L NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1416 Sushi 1. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GCCCAGGTCTCATGAAGTGTG 0.527000 45 48 0 0 0.000125731 0 0 OR2B2 81697 broad.mit.edu 37 6 27879792 27879792 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:27879792G>A ENST00000303324.2 - 1 382 c.306C>T c.(304-306)ttC>ttT p.F102F NM_033057.2 NP_149046.2 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, member 2 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 22 CCAGGAAAATGAAAAGCTGGG 0.448000 59 28 0 0 0.000147903 0 0 KRT23 25984 broad.mit.edu 37 17 39092540 39092540 + Missense_Mutation SNP T T G TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr17:39092540T>G ENST00000209718.3 - 2 740 c.316A>C c.(316-318)Aaa>Caa p.K106Q KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA NM_015515.3 NP_056330.3 Q9C075 K1C23_HUMAN keratin 23 (histone deacetylase inducible) 106 Coil 1A.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000301)|Ovarian(249;0.15) TGGTGCCATTTCAGGATGCGG 0.547000 88 57 0 0 0.000147903 0 0 NPY2R 4887 broad.mit.edu 37 4 156135508 156135508 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr4:156135508C>T ENST00000329476.3 + 2 906 c.417C>T c.(415-417)atC>atT p.I139I NPY2R_ENST00000506608.1_Silent_p.I139I NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 139 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) TATCCACAATCACCTTGACAG 0.527000 14 21 0 0 0.000308642 0 0 MUC5B 727897 broad.mit.edu 37 11 1268950 1268950 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:1268950G>A ENST00000447027.1 + 31 10907 c.10849G>A c.(10849-10851)Ggc>Agc p.G3617S MUC5B_ENST00000529681.1_Missense_Mutation_p.G3614S|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3614 7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). 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) GCAGCCCCTGGGCCTCGAGTG 0.682000 30 7 0 0 0.000491102 0 0 AFF3 3899 broad.mit.edu 37 2 100199260 100199260 + Splice_Site SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:100199260C>T ENST00000317233.4 - 16 3028 c.2793_splice c.e16+1 p.T931_splice AFF3_ENST00000409236.1_Splice_Site_p.T931_splice|AFF3_ENST00000409579.1_Splice_Site_p.T956_splice|AFF3_ENST00000356421.2_Splice_Site_p.T956_splice NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 931 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 ATCAACAAACCGTGAGGTCTC 0.498000 29 41 0 0 0.000279167 0 0 SIGLEC6 946 broad.mit.edu 37 19 52034594 52034594 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:52034594C>T ENST00000346477.3 - 2 315 c.247G>A c.(247-249)Gaa>Aaa p.E83K SIGLEC6_ENST00000425629.3_Missense_Mutation_p.E83K|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.E83K|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.E83K|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.E47K|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.E83K NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 83 Ig-like V-type. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) TGCACTTCTTCGTCTGGGTCG 0.582000 23 37 0 0 0.000229342 0 0 CLP1 10978 broad.mit.edu 37 11 57428555 57428555 + Nonsense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:57428555C>T ENST00000533682.1 + 3 1650 c.925C>T c.(925-927)Cga>Tga p.R309* CLP1_ENST00000529430.1_Nonsense_Mutation_p.R320*|CLP1_ENST00000302731.4_Nonsense_Mutation_p.R245*|CLP1_ENST00000525602.1_Nonsense_Mutation_p.R309* Q92989 CLP1_HUMAN cleavage and polyadenylation factor I subunit 1 309 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation nucleoplasm|tRNA-intron endonuclease complex ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1) 15 TTATGGATTCCGAGGCTGTTT 0.502000 80 91 0 0 0.000147903 0 0 SERPINE2 5270 broad.mit.edu 37 2 224856569 224856569 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:224856569C>T ENST00000409840.3 - 5 1296 c.636G>A c.(634-636)ggG>ggA p.G212G SERPINE2_ENST00000258405.4_Silent_p.G212G|SERPINE2_ENST00000447280.2_Silent_p.G224G|SERPINE2_ENST00000409304.1_Silent_p.G212G P07093 GDN_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 212 negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule heparin binding|receptor binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 17 Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797) Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902) GATAGGATTTCCCGTCGGCTG 0.547000 13 29 0 0 0.000219431 0 0 CYP4F24P 388514 broad.mit.edu 37 19 15881883 15881883 + RNA SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:15881883G>A ENST00000587443.2 - 0 1014 NR_033864.1 AGTGGGAAGGGTATGGCGCCG 0.537000 26 35 0 0 9.22233e-05 0 0 INMT 11185 broad.mit.edu 37 7 30795310 30795310 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:30795310C>T ENST00000013222.5 + 3 651 c.635C>T c.(634-636)tCc>tTc p.S212F INMT_ENST00000484180.1_3'UTR|INMT_ENST00000409539.1_Missense_Mutation_p.S211F|INMT-FAM188B_ENST00000458257.1_Intron NM_001199219.1|NM_006774.4 NP_001186148.1|NP_006765.4 O95050 INMT_HUMAN indolethylamine N-methyltransferase 212 cytoplasm amine N-methyltransferase activity kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1) 23 CGTGAATTTTCCTGCGTGGCC 0.597000 23 16 0 0 0.000375601 0 0 CHD7 55636 broad.mit.edu 37 8 61769341 61769341 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr8:61769341C>T ENST00000423902.2 + 34 7981 c.7502C>T c.(7501-7503)tCc>tTc p.S2501F CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2501 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CTTAATGGCTCCCTAGTGGAT 0.517000 50 66 0 0 0.000147903 0 0 CAPN13 92291 broad.mit.edu 37 2 30976031 30976031 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:30976031G>A ENST00000295055.8 - 10 1151 c.975C>T c.(973-975)atC>atT p.I325I CAPN13_ENST00000534090.2_Silent_p.I325I NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 325 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity p.I325I(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) TAAACATGGCGATGAATTTCT 0.438000 25 65 0 0 0.000586117 0 0 SELL 6402 broad.mit.edu 37 1 169660933 169660933 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:169660933G>A ENST00000236147.4 - 9 1310 c.1150C>T c.(1150-1152)Cca>Tca p.P384S C1orf112_ENST00000498289.1_Intron NM_000655.4 NP_000646.2 P14151 LYAM1_HUMAN selectin L 371 blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 15 all_hematologic(923;0.208) ATTTAATATGGGTCATTCATA 0.323000 8 11 0 0 0.000442599 0 0 MOCS3 27304 broad.mit.edu 37 20 49576218 49576218 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr20:49576218C>T ENST00000244051.1 + 1 856 c.839C>T c.(838-840)gCc>gTc p.A280V NM_014484.3 NP_055299.1 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 280 enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 24 CTCTTTGATGCCCTGAGAGGG 0.607000 21 19 0 0 0.000295444 0 0 PHLDB2 90102 broad.mit.edu 37 3 111602917 111602917 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:111602917G>A ENST00000393923.3 + 3 329 c.74G>A c.(73-75)aGc>aAc p.S25N PHLDB2_ENST00000412622.1_5'UTR|PHLDB2_ENST00000431670.2_5'UTR|PHLDB2_ENST00000393925.3_5'UTR|PHLDB2_ENST00000481953.1_5'UTR|PHLDB2_ENST00000478922.1_5'UTR|PHLDB2_ENST00000477695.1_5'UTR NM_001134437.1 NP_001127909.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 0 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 ACAGATTCCAGCAAGATTATG 0.358000 39 72 0 0 0.000374591 0 0 CSF2RB 1439 broad.mit.edu 37 22 37326699 37326699 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr22:37326699C>T ENST00000262825.5 + 8 1074 c.857C>T c.(856-858)tCt>tTt p.S286F CSF2RB_ENST00000406230.1_Missense_Mutation_p.S286F|CSF2RB_ENST00000403662.3_Intron|CSF2RB_ENST00000536485.1_Missense_Mutation_p.S227F NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 285 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) GCCCTCAGCTCTGCTGTGCTC 0.677000 7 17 0 0 8.12818e-05 0 0 CLINT1 9685 broad.mit.edu 37 5 157240099 157240099 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:157240099G>A ENST00000523094.1 - 5 640 c.435C>T c.(433-435)tcC>tcT p.S145S CLINT1_ENST00000523908.1_Silent_p.S163S|CLINT1_ENST00000530742.1_Silent_p.S145S|CLINT1_ENST00000296951.5_Silent_p.S145S|CLINT1_ENST00000411809.2_Silent_p.S163S NM_001195555.1|NM_001195556.1 NP_001182484.1|NP_001182485.1 Q14677 EPN4_HUMAN clathrin interactor 1 163 ENTH. endocytosis|post-Golgi vesicle-mediated transport clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm clathrin binding|lipid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1) 21 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CACTGTCTGAGGAAACCCCAA 0.413000 38 50 0 0 0.000437636 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18691202 18691202 + Missense_Mutation SNP A A T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:18691202A>T ENST00000433979.1 + 24 3429 c.3313A>T c.(3313-3315)Att>Ttt p.I1105F PIK3C2G_ENST00000538779.1_Missense_Mutation_p.I1146F|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.I1105F NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1105 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TGCTTATAATATTATCAGAAA 0.363000 7 12 0 0 8.12818e-05 0 0 TCEB3B 51224 broad.mit.edu 37 18 44559699 44559699 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr18:44559699G>A ENST00000332567.4 - 1 2289 c.1937C>T c.(1936-1938)tCt>tTt p.S646F KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 646 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CTTGGCCACAGATTTGAAACA 0.542000 68 167 0 0 0.000147903 0 0 MYH1 4619 broad.mit.edu 37 17 10415777 10415777 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr17:10415777C>T ENST00000226207.5 - 12 1189 c.1095G>A c.(1093-1095)atG>atA p.M365I CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 365 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GCTTGAATTTCATGTTCCCAT 0.433000 34 4 0 0 0.000409698 0 0 LAMA3 3909 broad.mit.edu 37 18 21481141 21481141 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr18:21481141G>A ENST00000313654.9 + 48 6296 c.6055G>A c.(6055-6057)Ggg>Agg p.G2019R LAMA3_ENST00000587184.1_Missense_Mutation_p.G354R|LAMA3_ENST00000399516.3_Missense_Mutation_p.G1963R|LAMA3_ENST00000269217.6_Missense_Mutation_p.G410R|LAMA3_ENST00000588770.1_3'UTR NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2019 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) GGAGAACAATGGGCTTGCTAA 0.498000 17 54 0 0 0.000175454 0 0 SBNO1 55206 broad.mit.edu 37 12 123804514 123804514 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:123804514G>A ENST00000420886.2 - 19 2731 c.2732C>T c.(2731-2733)tCt>tTt p.S911F SBNO1_ENST00000602398.1_Missense_Mutation_p.S911F|SBNO1_ENST00000602750.1_Missense_Mutation_p.S910F|SBNO1_ENST00000267176.4_Missense_Mutation_p.S910F NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 911 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) ATCAAGTTCAGATCTTGACTC 0.398000 37 48 0 0 0.000132358 0 0 TMEM184A 202915 broad.mit.edu 37 7 1586593 1586593 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:1586593G>A ENST00000297477.5 - 9 1553 c.1237C>T c.(1237-1239)Ctg>Ttg p.L413L NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 413 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) CCCCCCTACAGGTCCTCCGAG 0.716000 9 11 0 0 3.86212e-05 0 0 NCOA6 23054 broad.mit.edu 37 20 33364129 33364129 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr20:33364129G>A ENST00000374796.2 - 5 2928 c.358C>T c.(358-360)Cgg>Tgg p.R120W NCOA6_ENST00000359003.2_Missense_Mutation_p.R120W Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 120 CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-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 CCTAAATCCCGAAGCTGCTGG 0.498000 18 47 0 0 0.000132079 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50186672 50186672 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:50186672C>T ENST00000335999.6 - 11 3639 c.3438G>A c.(3436-3438)aaG>aaA p.K1146K NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 1142 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 GTGGCTTGGTCTTAGGAAGAT 0.657000 12 8 0 0 6.40141e-05 0 0 TRRAP 8295 broad.mit.edu 37 7 98554098 98554098 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:98554098C>T ENST00000359863.4 + 42 6361 c.6152C>T c.(6151-6153)tCc>tTc p.S2051F TRRAP_ENST00000446306.3_Missense_Mutation_p.S2032F|TRRAP_ENST00000355540.3_Missense_Mutation_p.S2033F NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2051 Interaction with TP53. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AGAGGCCTGTCCGTGGATTCT 0.517000 30 13 0 0 0.000339439 0 0 KALRN 8997 broad.mit.edu 37 3 124103703 124103703 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:124103703C>T ENST00000360013.3 + 11 1903 c.1776C>T c.(1774-1776)acC>acT p.T592T KALRN_ENST00000460856.1_Silent_p.T592T|KALRN_ENST00000240874.3_Silent_p.T592T NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 592 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 ATACGTACACCAATGCGGACA 0.607000 15 25 0 0 0.000308642 0 0 ABCA12 26154 broad.mit.edu 37 2 215919365 215919365 + Missense_Mutation SNP T T C TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:215919365T>C ENST00000272895.7 - 4 560 c.341A>G c.(340-342)aAc>aGc p.N114S NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 114 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CTTATCCAGGTTGGATGACTT 0.388000 21 9 0 0 0.000295444 0 0 HTN3 3347 broad.mit.edu 37 4 70898915 70898915 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr4:70898915C>T ENST00000530128.1 + 5 209 c.134C>T c.(133-135)tCa>tTa p.S45L HTN3_ENST00000381057.3_Missense_Mutation_p.S35L|HTN3_ENST00000526767.1_Missense_Mutation_p.S45L P15516 HIS3_HUMAN histatin 3 45 biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular region metal ion binding|protein binding breast(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 8 GGCTATAGATCAAATTATCTG 0.373000 5 15 0 0 1.23904e-05 0 0 MUC16 94025 broad.mit.edu 37 19 9090826 9090826 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:9090826G>A ENST00000397910.4 - 1 1192 c.989C>T c.(988-990)tCc>tTc p.S330F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 330 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TAGTGTCATGGAAAAAGGGAT 0.527000 30 47 0 0 0.000147802 0 0 EPHA7 2045 broad.mit.edu 37 6 93956640 93956640 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:93956640G>A ENST00000369303.4 - 15 2780 c.2596C>T c.(2596-2598)Cac>Tac p.H866Y NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 866 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) ATTAGCTGGTGAAGGCCAGCT 0.393000 18 29 0 0 9.7654e-05 0 0 HINT2 84681 broad.mit.edu 37 9 35813318 35813318 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr9:35813318G>A ENST00000259667.5 - 4 386 c.345C>T c.(343-345)ctC>ctT p.L115L HINT2_ENST00000474908.1_5'UTR NM_032593.2 NP_115982.1 Q9BX68 HINT2_HUMAN histidine triad nucleotide binding protein 2 115 HIT. apoptosis|steroid biosynthetic process mitochondrion hydrolase activity NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 7 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) TGGCCACAAGGAGTAGGTGTC 0.547000 OREG0019179 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 92 63 0 0 0.000147903 0 0 GRIA1 2890 broad.mit.edu 37 5 153085397 153085397 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:153085397C>T ENST00000285900.5 + 11 1936 c.1593C>T c.(1591-1593)ttC>ttT p.F531F GRIA1_ENST00000448073.4_Silent_p.F541F|GRIA1_ENST00000521843.2_Silent_p.F462F|GRIA1_ENST00000518142.1_Silent_p.F451F|GRIA1_ENST00000518783.1_Silent_p.F541F|GRIA1_ENST00000340592.5_Silent_p.F531F NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 531 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TCTTCTCCTTCCTTGATCCTT 0.433000 49 63 0 0 0.000147903 0 0 CYTIP 9595 broad.mit.edu 37 2 158290911 158290911 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:158290911C>T ENST00000264192.3 - 3 371 c.250G>A c.(250-252)Gat>Aat p.D84N CYTIP_ENST00000497432.1_5'UTR|CYTIP_ENST00000540637.1_5'UTR NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 84 PDZ. regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 GTTTCATTATCCTGCTTCTCC 0.333000 48 36 0 0 0.000147903 0 0 ADH1B 125 broad.mit.edu 37 4 100235017 100235017 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr4:100235017C>T ENST00000305046.8 - 6 856 c.789G>A c.(787-789)gtG>gtA p.V263V ADH1B_ENST00000394887.3_Silent_p.V223V P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 263 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) ACGAAAAATCCACACCTCCAT 0.468000 72 104 0 0 0.000147903 0 0 A2M 2 broad.mit.edu 37 12 9231867 9231867 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:9231867C>T ENST00000318602.7 - 25 3399 c.3092G>A c.(3091-3093)cGa>cAa p.R1031Q A2M_ENST00000542567.1_5'UTR NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 1031 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) CCTGCCATATCGCTCCCCAAA 0.413000 26 33 0 0 0.000147802 0 0 PPP1R3B 79660 broad.mit.edu 37 8 8998636 8998636 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr8:8998636G>A ENST00000310455.3 - 2 676 c.526C>T c.(526-528)Cct>Tct p.P176S PPP1R3B_ENST00000519699.1_Missense_Mutation_p.P176S NM_001201329.1|NM_024607.3 NP_001188258.1|NP_078883.2 Q86XI6 PPR3B_HUMAN protein phosphatase 1, regulatory subunit 3B 176 CBM21. glycogen metabolic process endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 12 COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241) TACTGACAAGGAAAGTCTGTG 0.483000 77 81 0 0 0.000147903 0 0 OR2T34 127068 broad.mit.edu 37 1 248737333 248737333 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:248737333G>A ENST00000328782.2 - 1 747 c.726C>T c.(724-726)gcC>gcT p.A242A NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGGTGGCCAAGGCCTTCCTGC 0.567000 39 82 0 0 0.000374591 0 0 DNAH8 1769 broad.mit.edu 37 6 38834374 38834374 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:38834374G>A ENST00000359357.3 + 44 6109 c.5855G>A c.(5854-5856)gGa>gAa p.G1952E DNAH8_ENST00000449981.2_Missense_Mutation_p.G2169E|DNAH8_ENST00000441566.1_Missense_Mutation_p.G1952E dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TAGAACCCTGGATATGCTGGG 0.318000 21 58 0 0 0.000175454 0 0 OR52E2 119678 broad.mit.edu 37 11 5079910 5079910 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:5079910C>T ENST00000321522.2 - 1 947 c.948G>A c.(946-948)aaG>aaA p.K316K NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 316 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) GGTACTCTTCCTTTTCCATTC 0.338000 25 38 0 0 0.000586117 0 0 ABCC9 10060 broad.mit.edu 37 12 22046965 22046965 + Splice_Site SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:22046965C>T ENST00000261200.4 - 12 1802 c.e12+1 ABCC9_ENST00000345162.2_Splice_Site|ABCC9_ENST00000261201.4_Splice_Site NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TCAGTGCATACCTTATGATGG 0.398000 12 12 0 0 0.00010058 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A C rs121913377 TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:140453136A>C ENST00000288602.6 - 15 1859 c.1799T>G c.(1798-1800)gTg>gGg p.V600G NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 63 11 0 0 0.000147903 0 0 ELMO2 63916 broad.mit.edu 37 20 45012104 45012104 + Missense_Mutation SNP A A G TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr20:45012104A>G ENST00000372176.1 - 10 911 c.443T>C c.(442-444)aTt>aCt p.I148T ELMO2_ENST00000290246.6_Missense_Mutation_p.I236T|ELMO2_ENST00000445496.2_Missense_Mutation_p.I53T|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000439931.2_Missense_Mutation_p.I236T|ELMO2_ENST00000396391.1_Missense_Mutation_p.I236T|ELMO2_ENST00000352077.2_Missense_Mutation_p.I234T Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 236 apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1) 16 Myeloproliferative disorder(115;0.0122) AATCAGTGCAATGGCGTAGGT 0.443000 62 80 0 0 0.000147903 0 0 BAZ2B 29994 broad.mit.edu 37 2 160242964 160242964 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:160242964C>T ENST00000392783.2 - 22 3866 c.3371G>A c.(3370-3372)gGa>gAa p.G1124E AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000355831.2_Missense_Mutation_p.G1090E|BAZ2B_ENST00000392782.1_Missense_Mutation_p.G1088E|BAZ2B_ENST00000343439.5_Missense_Mutation_p.G1024E NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1124 DDT. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 ATTTAGCAATCCCTCTTGAAG 0.433000 10 12 0 0 6.40141e-05 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891833 18891833 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:18891833G>A ENST00000317658.3 + 1 789 c.631G>A c.(631-633)Gaa>Aaa p.E211K NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 211 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) GGACCTGAAAGAAAGCTTGGA 0.398000 15 15 0 0 0.000422831 0 0 SCN7A 6332 broad.mit.edu 37 2 167297980 167297980 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:167297980C>T ENST00000409855.1 - 14 2209 c.2083G>A c.(2083-2085)Gac>Aac p.D695N NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 695 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 TCCATACAGTCCCACAAGGTC 0.428000 7 9 0 0 0.000274275 0 0 OPRD1 4985 broad.mit.edu 37 1 29189617 29189617 + Missense_Mutation SNP A A G TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:29189617A>G ENST00000234961.2 + 3 1183 c.941A>G c.(940-942)aAc>aGc p.N314S NM_000911.3 NP_000902.3 P41143 OPRD_HUMAN opioid receptor, delta 1 314 immune response|protein import into nucleus, translocation integral to plasma membrane delta-opioid receptor activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147) Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647) AGCAGCCTCAACCCCGTGCTC 0.672000 4 6 0 0 0.00024832 0 0 SYNGR1 9145 broad.mit.edu 37 22 39772070 39772070 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr22:39772070C>T ENST00000328933.5 + 3 366 c.351C>T c.(349-351)ttC>ttT p.F117F SYNGR1_ENST00000381535.4_Silent_p.F118F|SYNGR1_ENST00000318801.4_Silent_p.F117F|SYNGR1_ENST00000406293.3_Silent_p.F117F NM_004711.4 NP_004702.2 synaptogyrin 1 endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 7 Melanoma(58;0.04) TCTGGGCTTTCCTCTGGTTCG 0.632000 68 62 0 0 0.000147903 0 0 DNPEP 23549 broad.mit.edu 37 2 220250763 220250763 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:220250763G>A ENST00000273075.4 - 6 737 c.517C>T c.(517-519)Cgc>Tgc p.R173C DNPEP_ENST00000373972.1_Missense_Mutation_p.R98C|DNPEP_ENST00000523282.1_Missense_Mutation_p.R181C NM_012100.2 NP_036232.2 Q9ULA0 DNPEP_HUMAN aspartyl aminopeptidase 163 peptide metabolic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Renal(207;0.0474) Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) L-Glutamic Acid(DB00142) TGTGGGATGCGAAGAATGGGC 0.632000 20 45 0 0 0.000295444 0 0 DNAH5 1767 broad.mit.edu 37 5 13931332 13931332 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:13931332C>T ENST00000265104.4 - 2 183 c.79G>A c.(79-81)Gaa>Aaa p.E27K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 27 Stem (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) CGCTTGGCTTCCTTCTCTCCC 0.393000 Kartagener syndrome 25 40 0 0 0.000184323 0 0 CCDC63 160762 broad.mit.edu 37 12 111321968 111321968 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:111321968G>A ENST00000308208.5 + 8 1230 c.988G>A c.(988-990)Gag>Aag p.E330K CCDC63_ENST00000545036.1_Missense_Mutation_p.E290K|CCDC63_ENST00000552694.1_Missense_Mutation_p.E251K NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 330 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 TCTGGCCAAGGAGGAGAAGAA 0.532000 30 50 0 0 0.000409698 0 0 RYR3 6263 broad.mit.edu 37 15 34023823 34023823 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr15:34023823G>A ENST00000389232.4 + 48 7422 c.7352G>A c.(7351-7353)aGg>aAg p.R2451K RYR3_ENST00000415757.3_Missense_Mutation_p.R2451K NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2451 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ACAATATACAGGCTATCCAAG 0.468000 11 14 0 0 6.40141e-05 0 0 CIITA 4261 broad.mit.edu 37 16 10971230 10971230 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr16:10971230G>A ENST00000324288.8 + 1 176 c.43G>A c.(43-45)Gag>Aag p.E15K CIITA_ENST00000537380.1_3'UTR|RP11-876N24.2_ENST00000573071.1_RNA|RP11-876N24.2_ENST00000572017.1_RNA|CIITA_ENST00000381835.5_Missense_Mutation_p.E15K NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 15 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 CTACCTGTCAGAGCCCCAAGG 0.572000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 6 13 0 0 8.12818e-05 0 0 PTPRD 5789 broad.mit.edu 37 9 8500893 8500893 + Missense_Mutation SNP C C A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr9:8500893C>A ENST00000381196.4 - 21 2532 c.1989G>T c.(1987-1989)ttG>ttT p.L663F PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.L650F|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.L650F|PTPRD_ENST00000540109.1_Missense_Mutation_p.L663F|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.L663F NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 663 Fibronectin type-III 4. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AAGGAATTCCCAAAATCTCGT 0.483000 TSP Lung(15;0.13) 10 181 7.93312e-07 1.36143e-05 0.000219431 1 0 CCBL2 56267 broad.mit.edu 37 1 89420882 89420882 + Missense_Mutation SNP T T C TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:89420882T>C ENST00000260508.4 - 9 1151 c.814A>G c.(814-816)Aca>Gca p.T272A CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.T238A NM_001008661.2 NP_001008661.1 Q6YP21 KAT3_HUMAN cysteine conjugate-beta lyase 2 272 biosynthetic process|kynurenine metabolic process|tryptophan catabolic process cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1) 18 Lung NSC(277;0.123) all cancers(265;0.0117)|Epithelial(280;0.0341) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) ATTGTTATTGTTCTCTCCCAC 0.318000 35 37 0 0 0.000191422 0 0 PDE9A 5152 broad.mit.edu 37 21 44108041 44108041 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr21:44108041C>T ENST00000291539.6 + 3 215 c.155C>T c.(154-156)tCc>tTc p.S52F PDE9A_ENST00000398229.3_Missense_Mutation_p.S11F|PDE9A_ENST00000335440.6_Silent_p.L28L|PDE9A_ENST00000398234.3_Missense_Mutation_p.S11F|PDE9A_ENST00000328862.6_Intron|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000380328.2_Missense_Mutation_p.S52F|PDE9A_ENST00000335512.4_Missense_Mutation_p.S52F|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000398225.3_Missense_Mutation_p.S11F|PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000539837.1_Missense_Mutation_p.S17F|PDE9A_ENST00000398232.3_Intron|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398224.3_Intron NM_002606.2 NP_002597.1 O76083 PDE9A_HUMAN phosphodiesterase 9A 52 platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 ACGACCATCTCCCTGCTGACC 0.602000 19 27 0 0 0.000229342 0 0 TRUB2 26995 broad.mit.edu 37 9 131071999 131071999 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr9:131071999G>A ENST00000372890.4 - 8 1159 c.826C>T c.(826-828)Cta>Tta p.L276L TRUB2_ENST00000546104.1_Silent_p.L220L|TRUB2_ENST00000460320.1_5'UTR NM_015679.1 NP_056494.1 O95900 TRUB2_HUMAN TruB pseudouridine (psi) synthase family member 2 276 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding kidney(2)|large_intestine(2)|lung(3)|ovary(1) 8 ATGTTGGTTAGGTCCCACTGG 0.627000 17 5 0 0 9.7654e-05 0 0 NEURL1 9148 broad.mit.edu 37 10 105331330 105331330 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr10:105331330C>T ENST00000369780.4 + 3 809 c.400C>T c.(400-402)Cac>Tac p.H134Y NEURL_ENST00000369777.2_Missense_Mutation_p.H117Y NM_004210.4 NP_004201.3 O76050 NEU1A_HUMAN 134 NHR 1. nervous system development perinuclear region of cytoplasm zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) GTCCCGCATCCACCCTGACTC 0.662000 13 9 0 0 0.00010058 0 0 S100A7A 338324 broad.mit.edu 37 1 153391753 153391753 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:153391753G>A ENST00000368729.4 + 3 331 c.274G>A c.(274-276)Gga>Aga p.G92R S100A7A_ENST00000368728.2_Missense_Mutation_p.G92R|S100A7A_ENST00000329256.2_Missense_Mutation_p.G92R NM_176823.3 NP_789793.1 Q86SG5 S1A7A_HUMAN S100 calcium binding protein A7A 92 cytoplasm calcium ion binding cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1) 12 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) GCAGAGCCATGGAGCGGCGCC 0.532000 19 29 0 0 0.000132079 0 0 F2RL3 9002 broad.mit.edu 37 19 17000638 17000638 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:17000638G>A ENST00000248076.3 + 2 694 c.364G>A c.(364-366)Gac>Aac p.D122N F2RL3_ENST00000599210.1_3'UTR NM_003950.2 NP_003941.2 Q96RI0 PAR4_HUMAN coagulation factor II (thrombin) receptor-like 3 122 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol extracellular region|integral to plasma membrane thrombin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 CGCGGCTGCTGACCTCCTGCT 0.751000 13 2 0 0 0.000219431 0 0 PACSIN1 29993 broad.mit.edu 37 6 34499545 34499545 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:34499545C>T ENST00000538621.1 + 9 1451 c.1206C>T c.(1204-1206)gaC>gaT p.D402D PACSIN1_ENST00000244458.2_Silent_p.D402D|PACSIN1_ENST00000374043.2_Silent_p.D360D NM_001199583.1 NP_001186512.1 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in neurons 1 402 SH3. endocytosis protein kinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 13 AGGAGCAGGACGAGCTCAGCT 0.662000 38 137 0 0 0.000374591 0 0 KCNK1 3775 broad.mit.edu 37 1 233802610 233802610 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:233802610G>A ENST00000366621.3 + 2 793 c.625G>A c.(625-627)Gac>Aac p.D209N KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.D93N NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 209 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) CCTGGAGGATGACTGGAACTT 0.507000 44 64 0 0 0.000147903 0 0 MVB12A 93343 broad.mit.edu 37 19 17531349 17531349 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:17531349C>T ENST00000317040.7 + 3 1247 c.192C>T c.(190-192)aaC>aaT p.N64N MVB12A_ENST00000543795.1_Silent_p.N64N|CTD-2521M24.6_ENST00000593957.1_RNA|MVB12A_ENST00000392702.2_Silent_p.N64N|MVB12A_ENST00000529939.1_Silent_p.N64N|MVB12A_ENST00000528515.1_Silent_p.N64N multivesicular body subunit 12A ACCCCCAGAACCCGCAGGAGA 0.667000 15 14 0 0 0.000422831 0 0 YKT6 10652 broad.mit.edu 37 7 44247782 44247782 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:44247782G>A ENST00000223369.2 + 5 531 c.444G>A c.(442-444)gaG>gaA p.E148E YKT6_ENST00000447123.1_3'UTR|YKT6_ENST00000496112.1_Silent_p.E148E NM_006555.3 NP_006546.1 O15498 YKT6_HUMAN YKT6 v-SNARE homolog (S. cerevisiae) 148 v-SNARE coiled-coil homology. ER to Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi|vesicle docking involved in exocytosis|vesicle targeting cytoplasmic vesicle membrane|cytosol|endoplasmic reticulum|endosome|Golgi membrane|integral to plasma membrane|mitochondrion|SNARE complex protein-cysteine S-palmitoleyltransferase activity|SNAP receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 AACTAGATGAGACCAAAATCA 0.502000 9 20 0 0 0.000442599 0 0 MLH1 4292 broad.mit.edu 37 3 37070385 37070385 + Nonsense_Mutation SNP T T A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:37070385T>A ENST00000231790.2 + 13 1736 c.1520T>A c.(1519-1521)tTg>tAg p.L507* MLH1_ENST00000458205.2_Nonsense_Mutation_p.L266*|MLH1_ENST00000455445.2_Nonsense_Mutation_p.L266*|MLH1_ENST00000539477.1_Nonsense_Mutation_p.L266*|MLH1_ENST00000536378.1_Nonsense_Mutation_p.L266*|MLH1_ENST00000435176.1_Nonsense_Mutation_p.L409* NM_000249.3|NM_001258273.1 NP_000240.1|NP_001245202.1 P40692 MLH1_HUMAN mutL homolog 1 507 Interaction with EXO1. mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding p.0?(1) NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 127 ACTAGTGTTTTGAGTCTCCAG 0.488000 1 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian, CNS""" """colorectal, endometrial, ovarian, CNS""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 81 145 0 0 0.000147903 0 0 TTI2 80185 broad.mit.edu 37 8 33369706 33369706 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr8:33369706G>A ENST00000431156.2 - 2 1044 c.426C>T c.(424-426)ggC>ggT p.G142G TTI2_ENST00000360742.5_Silent_p.G142G|TTI2_ENST00000520636.1_Silent_p.G142G NM_001102401.2 NP_001095871.1 Q6NXR4 CH041_HUMAN TELO2 interacting protein 2 142 binding AGTGATGCAGGCCCGTCTGCC 0.532000 27 41 0 0 0.000586117 0 0 DDX52 11056 broad.mit.edu 37 17 35992205 35992205 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr17:35992205G>A ENST00000349699.2 - 4 584 c.541C>T c.(541-543)Cta>Tta p.L181L DDX52_ENST00000394367.3_Silent_p.L73L NM_007010.3 NP_008941.2 Q9Y2R4 DDX52_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 181 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3) 17 Breast(25;0.00637)|Ovarian(249;0.15) CCTGCATCTAGAATGTTCTGA 0.418000 89 51 0 0 0.000147903 0 0 LPAR3 23566 broad.mit.edu 37 1 85331580 85331580 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:85331580G>A ENST00000440886.1 - 1 262 c.224C>T c.(223-225)gCc>gTc p.A75V LPAR3_ENST00000370611.3_Missense_Mutation_p.A75V|LPAR3_ENST00000491034.1_5'UTR Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 75 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 GAAGAAATCGGCAGCAGCTAA 0.418000 41 53 0 0 0.000191422 0 0 D2HGDH 728294 broad.mit.edu 37 2 242681921 242681921 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:242681921C>T ENST00000321264.4 + 4 631 c.422C>T c.(421-423)cCc>cTc p.P141L D2HGDH_ENST00000403782.1_Missense_Mutation_p.P7L|D2HGDH_ENST00000537090.1_Missense_Mutation_p.P141L|D2HGDH_ENST00000342518.6_Missense_Mutation_p.P141L NM_152783.3 NP_689996.4 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase 141 FAD-binding PCMH-type. 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1) 16 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) GGCAGCGTCCCCGTCTTTGAC 0.652000 13 16 0 0 0.00010058 0 0 RGPD3 653489 broad.mit.edu 37 2 107041150 107041150 + Missense_Mutation SNP C C A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:107041150C>A ENST00000409886.3 - 20 3360 c.3273G>T c.(3271-3273)gaG>gaT p.E1091D RGPD3_ENST00000304514.7_Missense_Mutation_p.E1091D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1091 RanBD1 1. intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TGCCATTGACCTCGTTTTTGA 0.398000 133 157 1.30425e-93 2.2927e-92 0.000147903 1 0 IQUB 154865 broad.mit.edu 37 7 123104989 123104989 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:123104989G>A ENST00000466202.1 - 10 2232 c.1656C>T c.(1654-1656)gtC>gtT p.V552V IQUB_ENST00000434450.1_Silent_p.V552V|IQUB_ENST00000324698.6_Silent_p.V552V Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 552 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 TATGATGTTTGACTCCTCTCA 0.323000 19 144 0 0 0.000295444 0 0 HPS1 3257 broad.mit.edu 37 10 100190926 100190926 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr10:100190926G>A ENST00000325103.6 - 7 863 c.630C>T c.(628-630)ttC>ttT p.F210F HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.F210F|HPS1_ENST00000338546.5_Silent_p.F210F NM_000195.3 NP_000186.2 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 210 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) GCACGAGCAGGAAGGCATGCA 0.627000 Hermansky-Pudlak syndrome 14 12 0 0 0.000219431 0 0 NOD2 64127 broad.mit.edu 37 16 50763758 50763758 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr16:50763758G>A ENST00000300589.2 + 11 3101 c.2996G>A c.(2995-2997)gGg>gAg p.G999E NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 999 activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) ACCTACCTAGGGGCAGAAGCC 0.493000 16 22 0 0 0.000566183 0 0 OVCH1 341350 broad.mit.edu 37 12 29596314 29596314 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:29596314C>T ENST00000318184.5 - 25 3136 c.3137G>A c.(3136-3138)gGa>gAa p.G1046E OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 1046 proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TTTTCCTGGTCCAAATCCTTC 0.348000 32 24 0 0 0.000109025 0 0 KDM2B 84678 broad.mit.edu 37 12 121880284 121880284 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:121880284G>A ENST00000377069.4 - 18 3159 c.2753C>T c.(2752-2754)cCc>cTc p.P918L KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.P987L|KDM2B_ENST00000542973.1_Missense_Mutation_p.P355L NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 987 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 GATGCCCGGGGGCCGCTTGGG 0.706000 12 14 0 0 0.00010058 0 0 FAT3 120114 broad.mit.edu 37 11 92543181 92543181 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:92543181C>T ENST00000298047.6 + 12 9437 c.9420C>T c.(9418-9420)gtC>gtT p.V3140V FAT3_ENST00000525166.1_Silent_p.V2990V|FAT3_ENST00000409404.2_Silent_p.V3140V Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3140 Cadherin 29. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ACACCTGTGTCTATGAGAACA 0.532000 TCGA Ovarian(4;0.039) 123 171 0 0 0.000147903 0 0 CA3 761 broad.mit.edu 37 8 86358512 86358512 + Missense_Mutation SNP G G T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr8:86358512G>T ENST00000285381.2 + 6 732 c.649G>T c.(649-651)Gtg>Ttg p.V217L RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA NM_005181.3 NP_005172.1 P07451 CAH3_HUMAN carbonic anhydrase III, muscle specific 217 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GCCCATGACCGTGAGCTCTGA 0.532000 15 31 1.5739e-10 2.71391e-09 0.000422831 1 0 F8 2157 broad.mit.edu 37 X 154088762 154088762 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chrX:154088762G>A ENST00000360256.4 - 25 7045 c.6845C>T c.(6844-6846)tCc>tTc p.S2282F F8_ENST00000330287.6_Missense_Mutation_p.S147F NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 2282 F5/8 type C 2. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding 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) TTGACTGCTGGAGATGAGGAA 0.418000 67 14 0 0 0.000147903 0 0 NETO1 81832 broad.mit.edu 37 18 70526078 70526078 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr18:70526078C>T ENST00000327305.6 - 4 1109 c.452G>A c.(451-453)cGa>cAa p.R151Q NETO1_ENST00000397929.1_Missense_Mutation_p.R150Q|NETO1_ENST00000583169.1_Missense_Mutation_p.R151Q|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000299430.2_Missense_Mutation_p.R150Q NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 151 CUB 1. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) GAAATTGTATCGAGCTGAAAA 0.323000 55 26 0 0 0.000147903 0 0 GP2 2813 broad.mit.edu 37 16 20335499 20335499 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr16:20335499G>A ENST00000302555.5 - 3 323 c.174C>T c.(172-174)gtC>gtT p.V58V GP2_ENST00000381360.5_Intron|GP2_ENST00000381362.4_Silent_p.V58V|GP2_ENST00000341642.5_Intron P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 58 anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GGTCAAAACAGACATGAGCCT 0.552000 28 28 0 0 0.000227799 0 0 ABCA7 10347 broad.mit.edu 37 19 1051465 1051465 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:1051465C>T ENST00000263094.6 + 21 3073 c.2842C>T c.(2842-2844)Ctg>Ttg p.L948L ABCA7_ENST00000435683.2_Silent_p.L810L|ABCA7_ENST00000433129.1_Silent_p.L948L NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 948 ABC transporter 1. 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) GCAACGGAAGCTGTCCGTGGC 0.617000 18 26 0 0 7.07596e-05 0 0 MUC17 140453 broad.mit.edu 37 7 100682579 100682579 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:100682579C>T ENST00000306151.4 + 3 7946 c.7882C>T c.(7882-7884)Cct>Tct p.P2628S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2628 59 X approximate tandem repeats.|Ser-rich. 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) AATCTCAACTCCTAGTGAAGT 0.453000 29 130 0 0 0.000147802 0 0 ADAM18 8749 broad.mit.edu 37 8 39468132 39468132 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr8:39468132G>A ENST00000265707.5 + 6 474 c.429G>A c.(427-429)atG>atA p.M143I ADAM18_ENST00000541111.1_Intron|ADAM18_ENST00000520772.1_Missense_Mutation_p.M143I|ADAM18_ENST00000379866.1_Missense_Mutation_p.M143I NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 143 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TTTATCAAATGAAAAATAATG 0.333000 19 26 0 0 9.7654e-05 0 0 SERPINA13P 388007 broad.mit.edu 37 14 95107896 95107896 + RNA SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr14:95107896C>T ENST00000469935.1 + 0 501 NR_015340.1 GTGAGCATCTCCCTGGCCTTG 0.587000 6 4 0 0 3.59834e-05 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47366002 47366002 + RNA SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:47366002C>T ENST00000505841.1 - 0 107 NR_002788.2 TCCATCTCCTCCTCTGGTACA 0.547000 5 12 0 0 1.23904e-05 0 0 ERAP1 51752 broad.mit.edu 37 5 96098933 96098933 + Splice_Site SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:96098933C>T ENST00000296754.3 - 20 3076 c.e20-1 CAST_ENST00000511049.1_Intron|CAST_ENST00000395812.2_Intron|CAST_ENST00000395813.1_Intron|CAST_ENST00000510756.1_Intron|CAST_ENST00000508608.1_Intron|CAST_ENST00000309190.5_Intron|CAST_ENST00000359176.4_Intron|CAST_ENST00000341926.3_Intron|CAST_ENST00000511782.1_Intron|CAST_ENST00000508830.1_Intron|CAST_ENST00000325674.7_Intron|CAST_ENST00000338252.3_Intron|CAST_ENST00000508579.1_Intron|CAST_ENST00000515663.1_Intron|CAST_ENST00000504465.1_Intron|CAST_ENST00000348386.3_Intron|CAST_ENST00000509903.1_Intron NM_016442.3 NP_057526.3 Q9NZ08 ERAP1_HUMAN endoplasmic reticulum aminopeptidase 1 angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2) 19 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) TCAGGATCATCTGAAAATATC 0.428000 16 27 0 0 0.000422831 0 0 C1orf173 127254 broad.mit.edu 37 1 75086490 75086490 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:75086490C>T ENST00000326665.5 - 8 1146 c.928G>A c.(928-930)Gaa>Aaa p.E310K RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.E113K NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 310 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 ACTTTAATTTCATCCCGGAAG 0.348000 19 24 0 0 9.7654e-05 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120350843 120350843 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:120350843C>T ENST00000397843.2 + 38 4107 c.3941C>T c.(3940-3942)cCc>cTc p.P1314L ARHGEF12_ENST00000532993.1_Missense_Mutation_p.P1211L|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.P1295L NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1314 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) GGACATATGCCCTTTAGAACT 0.483000 T MLL AML 45 64 0 0 0.000147903 0 0 TAAR8 83551 broad.mit.edu 37 6 132874708 132874708 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:132874708G>A ENST00000275200.1 + 1 877 c.877G>A c.(877-879)Gaa>Aaa p.E293K NM_053278.1 NP_444508.1 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 293 plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) CTATATCTATGAAATTTGCTG 0.363000 66 67 0 0 0.000147903 0 0 ZNF300P1 134466 broad.mit.edu 37 5 150322208 150322208 + RNA SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:150322208C>T ENST00000520773.1 - 0 1276 TGGGTGAAATCCACAGCCACA 0.463000 5 8 0 0 0.000157383 0 0 CACNA1E 777 broad.mit.edu 37 1 181754859 181754859 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:181754859C>T ENST00000526775.1 + 42 5798 c.5633C>T c.(5632-5634)cCc>cTc p.P1878L CACNA1E_ENST00000367567.4_Missense_Mutation_p.P1504L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P1829L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1848L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1897L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1878L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1897L NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1897 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 AAAAATGCCCCCATGTTCCAG 0.478000 93 113 0 0 0.000147903 0 0 SI 6476 broad.mit.edu 37 3 164757739 164757739 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:164757739C>T ENST00000264382.3 - 19 2242 c.2180G>A c.(2179-2181)aGc>aAc p.S727N NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 727 Isomaltase. 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) CTCAATCCAGCTGTTCGTATC 0.338000 HNSCC(35;0.089) 26 49 0 0 0.000184323 0 0 MGAT1 4245 broad.mit.edu 37 5 180219417 180219417 + Silent SNP G G A rs147959494 TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:180219417G>A ENST00000446023.2 - 3 1305 c.555C>T c.(553-555)atC>atT p.I185I MGAT1_ENST00000393340.3_Silent_p.I185I|MGAT1_ENST00000307826.4_Silent_p.I185I|MGAT1_ENST00000427865.2_Silent_p.I185I|MGAT1_ENST00000333055.3_Silent_p.I185I NM_001114617.1|NM_001114618.1 NP_001108089.1|NP_001108090.1 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 185 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 13 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGTGGCGCGCGATCTTGTAGT 0.687000 37 50 0 0 0.000319135 0 0 C1orf94 84970 broad.mit.edu 37 1 34662999 34662999 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:34662999C>T ENST00000488417.1 + 2 614 c.494C>T c.(493-495)cCt>cTt p.P165L C1orf94_ENST00000373374.3_5'UTR NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 104 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) CTTGCCCCTCCTCTAGTGGCA 0.607000 10 12 0 0 3.86212e-05 0 0 FOXI1 2299 broad.mit.edu 37 5 169532973 169532973 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:169532973C>T ENST00000449804.2 + 1 57 c.12C>T c.(10-12)ttC>ttT p.F4F FOXI1_ENST00000306268.6_Silent_p.F4F NM_012188.4|NM_144769.2 NP_036320.2|NP_658982.1 Q12951 FOXI1_HUMAN forkhead box I1 4 SSF -> NSG (in Ref. 2; AAB50574). epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGAGCTCCTTCGACCTGCCGG 0.692000 Pendred syndrome 12 9 0 0 0.000219431 0 0 CCDC141 285025 broad.mit.edu 37 2 179742823 179742823 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:179742823G>A ENST00000420890.2 - 12 1884 c.1767C>T c.(1765-1767)atC>atT p.I589I CCDC141_ENST00000295723.5_Silent_p.I14I|CCDC141_ENST00000409284.1_Silent_p.I589I NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 14 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CCTTCTGAGGGATTTCGGTTT 0.348000 15 22 0 0 0.000422831 0 0 HPS4 89781 broad.mit.edu 37 22 26866780 26866780 + Splice_Site SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr22:26866780C>T ENST00000398145.2 - 7 1118 c.e7-1 HPS4_ENST00000402105.3_Splice_Site|HPS4_ENST00000398141.1_Splice_Site|HPS4_ENST00000336873.5_Splice_Site NM_022081.4 NP_071364.4 Q9NQG7 HPS4_HUMAN Hermansky-Pudlak syndrome 4 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 32 GGGGCTCCACCTGTGCAGGGC 0.567000 Hermansky-Pudlak syndrome 13 21 0 0 0.000151284 0 0 SAAL1 113174 broad.mit.edu 37 11 18110953 18110953 + Nonsense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:18110953G>A ENST00000524803.1 - 7 743 c.694C>T c.(694-696)Caa>Taa p.Q232* SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000300013.4_Nonsense_Mutation_p.Q232*|SAAL1_ENST00000529318.1_Nonsense_Mutation_p.Q232* Q96ER3 SAAL1_HUMAN serum amyloid A-like 1 232 acute-phase response extracellular region binding breast(2)|large_intestine(5)|lung(8) 15 TCCTGGGGTTGGTCCAGAGGC 0.493000 22 25 0 0 0.000375601 0 0 KRT6C 286887 broad.mit.edu 37 12 52865493 52865493 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:52865493C>T ENST00000252250.6 - 3 826 c.779G>A c.(778-780)cGc>cAc p.R260H NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 260 Coil 1B.|Rod. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) TGCTGCTGTGCGCTTGTTGAT 0.453000 55 66 0 0 0.000147903 0 0 GCC1 79571 broad.mit.edu 37 7 127222106 127222106 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:127222106G>A ENST00000321407.2 - 2 2714 c.2290C>T c.(2290-2292)Cca>Tca p.P764S NM_024523.5 NP_078799.2 Q96CN9 GCC1_HUMAN GRIP and coiled-coil domain containing 1 764 Golgi membrane|plasma membrane protein binding breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GCACTGGTTGGGAGTCGCATT 0.517000 120 31 0 0 0.000147903 0 0 CYP4F2 8529 broad.mit.edu 37 19 15990223 15990223 + Missense_Mutation SNP G G A rs142113670 TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:15990223G>A ENST00000221700.5 - 12 1425 c.1330C>T c.(1330-1332)Cgc>Tgc p.R444C CYP4F2_ENST00000592328.1_Missense_Mutation_p.R444C NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 444 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GGGTCAAAGCGAAAGGGGTCG 0.577000 51 62 0 0 0.000147903 0 0 CD200R1 131450 broad.mit.edu 37 3 112647760 112647760 + Missense_Mutation SNP C C A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:112647760C>A ENST00000471858.1 - 4 835 c.603G>T c.(601-603)aaG>aaT p.K201N CD200R1_ENST00000308611.3_Missense_Mutation_p.K224N|CD200R1_ENST00000295863.4_Missense_Mutation_p.K179N NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 201 Ig-like C2-type. interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 GGCATGTACTCTTAACAGTCA 0.527000 13 14 6.53275e-17 1.13731e-15 0.000219431 1 0 SHKBP1 92799 broad.mit.edu 37 19 41083314 41083314 + Silent SNP A A G TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:41083314A>G ENST00000291842.5 + 3 202 c.153A>G c.(151-153)ggA>ggG p.G51G SHKBP1_ENST00000600733.1_Silent_p.G51G NM_138392.3 NP_612401.2 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 51 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) TTCTGAGCGGACGCATCTCGA 0.627000 9 12 0 0 3.86212e-05 0 0 TMC6 11322 broad.mit.edu 37 17 76120117 76120117 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr17:76120117G>A ENST00000590602.1 - 9 1194 c.1035C>T c.(1033-1035)tcC>tcT p.S345S TMC6_ENST00000392467.3_Silent_p.S345S|TMC6_ENST00000306591.7_Silent_p.S345S|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000322914.3_Silent_p.S345S|TMC6_ENST00000589553.1_Silent_p.S118S Q7Z403 TMC6_HUMAN transmembrane channel-like 6 345 endoplasmic reticulum membrane|integral to membrane NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 14 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) CGCCCACAGTGGAGAGGTAGG 0.617000 17 54 0 0 7.07596e-05 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576414 158576414 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:158576414C>T ENST00000361284.1 + 1 186 c.186C>T c.(184-186)ttC>ttT p.F62F NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) TGTACCTCTTCCTTTCCTTCC 0.517000 27 46 0 0 0.000227799 0 0 AHCTF1 25909 broad.mit.edu 37 1 247040330 247040330 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:247040330G>A ENST00000366508.1 - 23 3100 c.2964C>T c.(2962-2964)ttC>ttT p.F988F AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.F962F|AHCTF1_ENST00000391829.2_Silent_p.F953F Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 953 cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) GCACTAAAAGGAATTCATGAT 0.348000 30 24 0 0 0.000227799 0 0 MMP3 4314 broad.mit.edu 37 11 102710938 102710938 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:102710938G>A ENST00000299855.5 - 6 1092 c.836C>T c.(835-837)cCt>cTt p.P279L NM_002422.3 NP_002413.1 P08254 MMP3_HUMAN matrix metallopeptidase 3 (stromelysin 1, progelatinase) 279 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) TGGAGGGACAGGTTCCGTGGG 0.517000 15 22 0 0 0.000566183 0 0 KAT2B 8850 broad.mit.edu 37 3 20136846 20136846 + Nonsense_Mutation SNP T T A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:20136846T>A ENST00000263754.4 + 3 977 c.522T>A c.(520-522)tgT>tgA p.C174* KAT2B_ENST00000426228.1_3'UTR NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 174 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 TCTTTACCTGTGTCCACAAGG 0.348000 8 10 0 0 3.86212e-05 0 0 KRT14 3861 broad.mit.edu 37 17 39743019 39743019 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr17:39743019C>T ENST00000167586.6 - 1 154 c.68G>A c.(67-69)gGc>gAc p.G23D NM_000526.4 NP_000517.2 P02533 K1C14_HUMAN keratin 14 23 Head. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) gcccccgatgccgcccccgat 0.711000 7 3 0 0 8.12818e-05 0 0 DOCK7 85440 broad.mit.edu 37 1 63024887 63024887 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:63024887G>A ENST00000251157.5 - 20 2237 c.2204C>T c.(2203-2205)cCt>cTt p.P735L DOCK7_ENST00000340370.5_Missense_Mutation_p.P735L NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 735 DHR-1. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 GTCAAGATAAGGATCCTAAAA 0.363000 15 12 0 0 7.07596e-05 0 0 NTSR1 4923 broad.mit.edu 37 20 61340675 61340675 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr20:61340675C>T ENST00000370501.3 + 1 487 c.116C>T c.(115-117)tCg>tTg p.S39L NM_002531.2 NP_002522.2 P30989 NTR1_HUMAN neurotensin receptor 1 (high affinity) 39 endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3) 27 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) GGCAACGCTTCGGGCAACGCG 0.736000 9 9 0 0 0.000442599 0 0 BPIFA2 140683 broad.mit.edu 37 20 31760844 31760844 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr20:31760844C>T ENST00000253362.2 + 3 410 c.264C>T c.(262-264)gtC>gtT p.V88V BPIFA2_ENST00000354932.5_Silent_p.V88V Q96DR5 SPLC2_HUMAN BPI fold containing family A, member 2 88 extracellular region lipid binding p.V88V(1) TGAACAATGTCATTTCTAAGC 0.463000 28 40 0 0 0.000184323 0 0 SLC2A10 81031 broad.mit.edu 37 20 45353822 45353822 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr20:45353822C>T ENST00000359271.2 + 2 397 c.147C>T c.(145-147)ttC>ttT p.F49F NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 49 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) AGCAGGAGTTCCTGGTGGGCA 0.592000 28 49 0 0 0.000117367 0 0 EI24 9538 broad.mit.edu 37 11 125450000 125450000 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:125450000G>A ENST00000278903.6 + 8 815 c.573G>A c.(571-573)gtG>gtA p.V191V STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000530985.1_3'UTR|EI24_ENST00000343678.4_Silent_p.V191V|STT3A-AS1_ENST00000530526.1_RNA NM_004879.3 NP_004870.3 O14681 EI24_HUMAN etoposide induced 2.4 191 apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth endoplasmic reticulum membrane|integral to membrane|nuclear membrane p.V191V(1) large_intestine(1)|lung(9)|ovary(1) 11 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975) GAATGTTTGTGAGTCTCTTTC 0.433000 133 168 0 0 0.000147903 0 0 SAA1 6288 broad.mit.edu 37 11 18288502 18288502 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:18288502C>T ENST00000405158.2 + 2 252 c.68C>T c.(67-69)tCg>tTg p.S23L SAA1_ENST00000356524.4_Missense_Mutation_p.S23L|SAA1_ENST00000532858.1_Missense_Mutation_p.S23L NM_000331.4 NP_000322.2 P02735 SAA_HUMAN serum amyloid A1 23 acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion high-density lipoprotein particle G-protein-coupled receptor binding endometrium(1)|large_intestine(3)|lung(2)|stomach(3) 9 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) AGCTTCTTTTCGTTCCTTGGC 0.498000 27 53 0 0 0.000409698 0 0 KCND3 3752 broad.mit.edu 37 1 112524287 112524287 + Silent SNP G G A rs150934088 TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:112524287G>A ENST00000369697.1 - 1 1131 c.1062C>T c.(1060-1062)atC>atT p.I354I KCND3_ENST00000302127.4_Silent_p.I354I|KCND3_ENST00000315987.2_Silent_p.I354I Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 354 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) ACGAGGCAGGGATGCTTGTGA 0.542000 14 16 0 0 0.000219431 0 0 FUK 197258 broad.mit.edu 37 16 70503181 70503181 + Missense_Mutation SNP C C G TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr16:70503181C>G ENST00000288078.6 + 10 1142 c.910C>G c.(910-912)Cgg>Ggg p.R304G FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Missense_Mutation_p.R336G NM_145059.2 NP_659496.2 Q8N0W3 FUK_HUMAN fucokinase 304 cytoplasm ATP binding|fucokinase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2) 23 Ovarian(137;0.0694) GCAGAGCGCCCGGGCCCAGCT 0.652000 4 95 0 0 0.00024832 0 0 HIST1H2BC 8347 broad.mit.edu 37 6 26123939 26123939 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:26123939G>A ENST00000314332.5 - 1 199 c.194C>T c.(193-195)tCt>tTt p.S65F HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.S65F P62807 H2B1C_HUMAN histone cluster 1, H2bc 65 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding p.S65Y(1) NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 16 GTTAACGAAAGAATTCATGAT 0.562000 56 190 0 0 0.000147903 0 0 NOL4 8715 broad.mit.edu 37 18 31803074 31803074 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr18:31803074C>T ENST00000261592.5 - 1 441 c.144G>A c.(142-144)acG>acA p.T48T RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000589544.1_Silent_p.T48T NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 48 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 TGGCGTTGTCCGTGGAGCTCG 0.597000 60 36 0 0 0.000147903 0 0 MUSK 4593 broad.mit.edu 37 9 113562667 113562667 + Missense_Mutation SNP T T G TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr9:113562667T>G ENST00000416899.2 + 13 2111 c.1985T>G c.(1984-1986)aTg>aGg p.M662R MUSK_ENST00000189978.5_Missense_Mutation_p.M670R|MUSK_ENST00000374448.4_Missense_Mutation_p.M670R O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 670 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 CTCCGCAGCATGTCCCCTCAC 0.572000 53 10 0 0 0.000147903 0 0 CPXM2 119587 broad.mit.edu 37 10 125521640 125521640 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr10:125521640G>A ENST00000241305.3 - 11 1679 c.1525C>T c.(1525-1527)Cct>Tct p.P509S CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 509 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) AGCACAAAAGGGATTTTTTCC 0.577000 40 48 0 0 0.000319135 0 0 ZNF518B 85460 broad.mit.edu 37 4 10446348 10446348 + Silent SNP T T C TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr4:10446348T>C ENST00000326756.3 - 3 2043 c.1605A>G c.(1603-1605)gcA>gcG p.A535A NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 535 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 AGGAACAGGTTGCAGGTGATG 0.398000 25 34 0 0 9.22233e-05 0 0 NEFL 4747 broad.mit.edu 37 8 24811711 24811711 + RNA SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr8:24811711C>T ENST00000221169.5 - 0 1747 P07196 NFL_HUMAN neurofilament, light polypeptide anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2) 21 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) GCTGCAATCTCAATATCCAAA 0.388000 118 174 0 0 0.000147903 0 0 HMGCS1 3157 broad.mit.edu 37 5 43294168 43294168 + Missense_Mutation SNP A A C TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:43294168A>C ENST00000325110.6 - 8 1379 c.1173T>G c.(1171-1173)gaT>gaG p.D391E HMGCS1_ENST00000433297.2_Missense_Mutation_p.D391E NM_001098272.2 NP_001091742.1 Q01581 HMCS1_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 391 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1) 15 CCGGTGTAGCATCTTGTGTGA 0.473000 9 30 0 0 0.000442599 0 0 ZNF28 7576 broad.mit.edu 37 19 53304430 53304430 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:53304430G>A ENST00000438150.2 - 2 1402 c.509C>T c.(508-510)tCc>tTc p.S170F ZNF28_ENST00000360272.4_Missense_Mutation_p.S170F|ZNF28_ENST00000457749.2_Missense_Mutation_p.S223F|ZNF28_ENST00000414252.2_Missense_Mutation_p.S170F P17035 ZNF28_HUMAN zinc finger protein 28 223 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) ACAATTAAAGGATTTGCCACT 0.323000 46 54 0 0 0.000509022 0 0 CYP1A1 1543 broad.mit.edu 37 15 75012980 75012980 + Silent SNP G G T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr15:75012980G>T ENST00000379727.3 - 7 1587 c.1389C>A c.(1387-1389)gcC>gcA p.A463A CYP1A1_ENST00000395049.4_Silent_p.A434A|CYP1A1_ENST00000395048.2_Silent_p.A463A|CYP1A1_ENST00000567032.1_Silent_p.A463A P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 1 463 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) CCTCCCAGCGGGCAATGGTCT 0.537000 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 44 34 1.32136e-16 2.2967e-15 0.000374591 1 0 FAR1 84188 broad.mit.edu 37 11 13736088 13736088 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:13736088C>T ENST00000354817.3 + 9 1132 c.988C>T c.(988-990)Cct>Tct p.P330S FAR1_ENST00000527202.1_3'UTR NM_032228.5 NP_115604.1 Q8WVX9 FACR1_HUMAN fatty acyl CoA reductase 1 330 ether lipid biosynthetic process integral to membrane|peroxisomal matrix|peroxisomal membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 CAAGAGGAATCCTCTCGAACA 0.373000 8 14 0 0 0.000274275 0 0 ZBTB45 84878 broad.mit.edu 37 19 59028416 59028416 + Missense_Mutation SNP C C G TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:59028416C>G ENST00000594051.1 - 2 1105 c.625G>C c.(625-627)Gag>Cag p.E209Q ZBTB45_ENST00000354590.3_Missense_Mutation_p.E209Q|ZBTB45_ENST00000600990.1_Missense_Mutation_p.E209Q Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 209 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|urinary_tract(1) 11 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) TCGTCATCCTCGTCACCTCGG 0.672000 OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 95 133 0 0 0.000147903 0 0 PLA1A 51365 broad.mit.edu 37 3 119336952 119336952 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:119336952C>T ENST00000273371.4 + 7 913 c.841C>T c.(841-843)Ccc>Tcc p.P281S PLA1A_ENST00000495992.1_Missense_Mutation_p.P265S|PLA1A_ENST00000488919.1_Missense_Mutation_p.P108S|PLA1A_ENST00000494440.1_Missense_Mutation_p.P265S NM_015900.3 NP_056984.1 Q53H76 PLA1A_HUMAN phospholipase A1 member A 281 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GATGGCCTTTCCCTGTGCCAG 0.498000 127 177 0 0 0.000147903 0 0 ATP10D 57205 broad.mit.edu 37 4 47565627 47565627 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr4:47565627G>A ENST00000273859.3 + 15 2967 c.2698G>A c.(2698-2700)Gag>Aag p.E900K NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 900 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 CCGTCTGCAGGAGGGAGTCCC 0.473000 19 30 0 0 0.000586117 0 0 MYO18B 84700 broad.mit.edu 37 22 26422418 26422418 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr22:26422418G>A ENST00000335473.7 + 43 6728 c.6478G>A c.(6478-6480)Gaa>Aaa p.E2160K MYO18B_ENST00000536101.1_Missense_Mutation_p.E2160K|MYO18B_ENST00000407587.2_Missense_Mutation_p.E2161K NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2160 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CAGGATAAACGAAGAGGCTGG 0.502000 78 90 0 0 0.000147903 0 0 DMGDH 29958 broad.mit.edu 37 5 78338222 78338222 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:78338222C>T ENST00000255189.3 - 7 1105 c.1077G>A c.(1075-1077)ttG>ttA p.L359L DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Silent_p.L158L NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 359 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) CAGCCTTTTTCAAGACAGGAA 0.448000 24 38 0 0 0.000117367 0 0 SLC22A3 6581 broad.mit.edu 37 6 160829803 160829803 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:160829803C>T ENST00000392145.1 + 4 734 c.707C>T c.(706-708)tCg>tTg p.S236L SLC22A3_ENST00000275300.2_Missense_Mutation_p.S236L O75751 S22A3_HUMAN solute carrier family 22 (organic cation transporter), member 3 236 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity p.S236*(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) ATAGTAGGTTCGAAACAAAGG 0.403000 8 12 0 0 0.000442599 0 0 NBEA 26960 broad.mit.edu 37 13 35751166 35751166 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr13:35751166C>T ENST00000540320.1 + 28 5122 c.4588C>T c.(4588-4590)Cct>Tct p.P1530S NBEA_ENST00000379939.2_Missense_Mutation_p.P1527S|NBEA_ENST00000310336.4_Missense_Mutation_p.P1530S|NBEA_ENST00000400445.3_Missense_Mutation_p.P1530S Q8NFP9 NBEA_HUMAN neurobeachin 1530 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TAACCTTTCTCCTATTAAGGA 0.348000 5 7 0 0 3.59834e-05 0 0 DNAH11 8701 broad.mit.edu 37 7 21920343 21920343 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:21920343G>A ENST00000328843.6 + 76 12271 c.12240G>A c.(12238-12240)aaG>aaA p.K4080K DNAH11_ENST00000409508.3_Silent_p.K4073K Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4080 AAA 6 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TATGCTCCAAGGAGCAGGAGT 0.463000 Kartagener syndrome 57 85 0 0 0.000147903 0 0 OR4K2 390431 broad.mit.edu 37 14 20344762 20344762 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr14:20344762C>T ENST00000298642.2 + 1 372 c.336C>T c.(334-336)atC>atT p.I112I NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GAACTGAGATCATCTTACTCA 0.438000 47 198 0 0 0.000147903 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857353 9857353 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr16:9857353C>T ENST00000396573.2 - 14 4357 c.4048G>A c.(4048-4050)Gac>Aac p.D1350N GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1350N|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1350N|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000535259.1_Intron NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1350 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CTCTTGCTGTCCTCCAGACCT 0.537000 19 32 0 0 9.7654e-05 0 0 CRB1 23418 broad.mit.edu 37 1 197396720 197396720 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:197396720G>A ENST00000367397.1 + 3 1266 c.408G>A c.(406-408)ttG>ttA p.L136L CRB1_ENST00000367399.2_Silent_p.L643L|CRB1_ENST00000367400.3_Silent_p.L755L|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Silent_p.L686L|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000544212.1_Silent_p.L236L P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 755 EGF-like 3. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TTCTAGCTTTGGAAAACAGCA 0.433000 12 16 0 0 0.00010058 0 0 COL5A3 50509 broad.mit.edu 37 19 10107314 10107314 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:10107314G>A ENST00000264828.3 - 12 1400 c.1315C>T c.(1315-1317)Ccg>Tcg p.P439S CTD-2553C6.1_ENST00000592332.1_RNA NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 439 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) ACAGTGCCCGGTGGGCCTCGG 0.647000 16 27 0 0 0.000566183 0 0 IGKV3-11 28914 broad.mit.edu 37 2 89326736 89326736 + RNA SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:89326736G>A ENST00000483158.1 - 0 323 CTGATGGTGAGAGTGAAGTCT 0.542000 25 30 0 0 0.000117367 0 0 SMOC1 64093 broad.mit.edu 37 14 70418873 70418873 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr14:70418873G>A ENST00000381280.4 + 2 371 c.118G>A c.(118-120)Gac>Aac p.D40N SMOC1_ENST00000555917.1_3'UTR|SMOC1_ENST00000361956.3_Missense_Mutation_p.D40N NM_001034852.2|NM_022137.5 NP_001030024.1|NP_071420.1 Q9H4F8 SMOC1_HUMAN SPARC related modular calcium binding 1 40 Kazal-like. cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) AAGTGACCGTGACCCACAGTG 0.488000 33 48 0 0 0.000159656 0 0 PSD 5662 broad.mit.edu 37 10 104165191 104165191 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr10:104165191G>A ENST00000020673.5 - 12 2764 c.2238C>T c.(2236-2238)ttC>ttT p.F746F PSD_ENST00000406432.1_Silent_p.F746F NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 746 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) TCAGGTCCAGGAAAGGGCTGG 0.642000 40 49 0 0 0.000509022 0 0 BSN 8927 broad.mit.edu 37 3 49701949 49701949 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:49701949C>T ENST00000296452.4 + 9 11816 c.11702C>T c.(11701-11703)cCt>cTt p.P3901L NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 3901 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) AAGATCCTCCCTGGCGGGGCA 0.647000 38 42 0 0 0.000270559 0 0 IGHA1 3493 broad.mit.edu 37 14 106174198 106174198 + RNA SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr14:106174198G>A ENST00000390547.2 - 0 590 TCTTCCCATGGTTCCATGGCT 0.627000 7 10 0 0 0.000157383 0 0 CLCN7 1186 broad.mit.edu 37 16 1499018 1499018 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr16:1499018G>A ENST00000382745.4 - 19 2351 c.1746C>T c.(1744-1746)ccC>ccT p.P582P CLCN7_ENST00000448525.1_Silent_p.P558P|CLCN7_ENST00000262318.8_Silent_p.P558P NM_001287.5 NP_001278.1 P51798 CLCN7_HUMAN chloride channel, voltage-sensitive 7 582 integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 24 Hepatocellular(780;0.0893) CCAGCATGATGGGGAAGCCGT 0.612000 13 18 0 0 0.000219431 0 0 MUC16 94025 broad.mit.edu 37 19 9075775 9075775 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:9075775C>T ENST00000397910.4 - 3 11874 c.11671G>A c.(11671-11673)Gaa>Aaa p.E3891K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3892 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATGGTATCTTCTGAGACAGAA 0.453000 16 15 0 0 0.000566183 0 0 C19orf45 374877 broad.mit.edu 37 19 7569281 7569281 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:7569281G>A ENST00000361664.2 + 4 907 c.766G>A c.(766-768)Gat>Aat p.D256N NM_198534.2 NP_940936.2 Q8NA69 CS045_HUMAN chromosome 19 open reading frame 45 256 D -> G (in dbSNP:rs484870). endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1) 8 CAGGCCCCAGGATCTGCCTGA 0.587000 22 30 0 0 0.000375601 0 0 SRPK1 6732 broad.mit.edu 37 6 35803137 35803137 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:35803137G>A ENST00000373825.2 - 16 2197 c.1912C>T c.(1912-1914)Cct>Tct p.P638S SRPK1_ENST00000373822.1_Missense_Mutation_p.P530S|SRPK1_ENST00000423325.2_Missense_Mutation_p.P622S Q96SB4 SRPK1_HUMAN SRSF protein kinase 1 638 Protein kinase. cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing cytoplasm|nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.P637A(1) endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 CTCTTCTCAGGGATCAGCTCC 0.567000 11 52 0 0 6.40141e-05 0 0 COQ7 10229 broad.mit.edu 37 16 19083402 19083402 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr16:19083402C>T ENST00000321998.5 + 2 292 c.226C>T c.(226-228)Cgg>Tgg p.R76W COQ7_ENST00000568985.1_Missense_Mutation_p.R76W|COQ7_ENST00000569127.1_Missense_Mutation_p.R53W|COQ7_ENST00000544894.2_Missense_Mutation_p.R38W NM_016138.4 NP_057222.2 Q99807 COQ7_HUMAN coenzyme Q7 homolog, ubiquinone (yeast) 76 2 X approximate tandem repeats. ubiquinone biosynthetic process mitochondrial inner membrane|nucleus oxidoreductase activity|transition metal ion binding breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1) 10 TGTCCTGGGTCGGACCAGCGT 0.537000 OREG0023656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 41 0 0 0.000132358 0 0 VWA9 81556 broad.mit.edu 37 15 65890678 65890678 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr15:65890678G>A ENST00000395644.4 - 6 1064 c.729C>T c.(727-729)atC>atT p.I243I VWA9_ENST00000431261.2_Silent_p.I164I|VWA9_ENST00000442903.3_Silent_p.I207I|VWA9_ENST00000420799.2_Silent_p.I186I|VWA9_ENST00000567744.1_Silent_p.I279I|VWA9_ENST00000313182.2_Silent_p.I243I|VWA9_ENST00000569491.1_Silent_p.I194I von Willebrand factor A domain containing 9 TGACTTTAGGGATAGGATCAA 0.383000 24 33 0 0 9.22233e-05 0 0 DOK2 9046 broad.mit.edu 37 8 21771103 21771103 + Missense_Mutation SNP C C A rs149394218 byFrequency TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr8:21771103C>A ENST00000276420.4 - 1 268 c.10G>T c.(10-12)Ggg>Tgg p.G4W DOK2_ENST00000544659.1_5'UTR NM_003974.2 NP_003965.2 O60496 DOK2_HUMAN docking protein 2, 56kDa 4 PH. blood coagulation|leukocyte migration cytosol identical protein binding|insulin receptor binding NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1) 26 Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) TTCACTGCCCCGTCTCCCATC 0.587000 6 83 0.000274275 0.00465538 0.000274275 1 0 NLRP2 55655 broad.mit.edu 37 19 55492998 55492998 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:55492998G>A ENST00000543010.1 + 5 554 c.411G>A c.(409-411)acG>acA p.T137T NLRP2_ENST00000537859.1_Intron|NLRP2_ENST00000427260.2_Silent_p.T114T|NLRP2_ENST00000339757.7_Intron|NLRP2_ENST00000263437.6_Silent_p.T134T|NLRP2_ENST00000391721.4_Silent_p.T113T|NLRP2_ENST00000448584.2_Silent_p.T137T|NLRP2_ENST00000538819.1_Silent_p.T113T NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 137 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) TTACAGAAACGAAAGGAAATG 0.413000 37 44 0 0 0.000319135 0 0 SLC22A9 114571 broad.mit.edu 37 11 63141131 63141131 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:63141131C>T ENST00000279178.3 + 3 771 c.522C>T c.(520-522)ttC>ttT p.F174F SLC22A9_ENST00000310969.4_Intron NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 174 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 GGAGAAGGTTCGTGCTCAGAT 0.458000 5 10 0 0 3.59834e-05 0 0 PCDH12 51294 broad.mit.edu 37 5 141335158 141335158 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:141335158C>T ENST00000231484.3 - 1 3469 c.2259G>A c.(2257-2259)cgG>cgA p.R753R NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 753 R -> W (in Ref. 4; BAB14677). neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTCGGCCTCCCGACAGTTGT 0.582000 20 25 0 0 0.000229342 0 0 SPTA1 6708 broad.mit.edu 37 1 158618345 158618345 + Missense_Mutation SNP C C T rs148714399 by1000genomes TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:158618345C>T ENST00000368148.3 - 26 3848 c.3668G>A c.(3667-3669)cGa>cAa p.R1223Q SPTA1_ENST00000368147.3_Missense_Mutation_p.R1223Q NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1223 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.R1223Q(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTCATGCCGTCGCTGAAGAGC 0.507000 23 27 0 0 0.00047179 0 0 CFTR 1080 broad.mit.edu 37 7 117175331 117175331 + Silent SNP C C T rs1800081 TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:117175331C>T ENST00000003084.6 + 6 741 c.609C>T c.(607-609)atC>atT p.I203I CFTR_ENST00000454343.1_Silent_p.I203I NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 203 ABC transmembrane type-1 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TCGTGTGGATCGCTCCTTTGC 0.458000 Cystic Fibrosis 58 45 0 0 0.000147903 0 0 DSCAM 1826 broad.mit.edu 37 21 41719705 41719705 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr21:41719705C>T ENST00000400454.1 - 6 1579 c.1102G>A c.(1102-1104)Gaa>Aaa p.E368K NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 368 Ig-like C2-type 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.E368Q(1) 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) ATAAGGTTTTCGTGGTTGATC 0.512000 60 90 0 0 0.000147903 0 0 ADCY1 107 broad.mit.edu 37 7 45632490 45632490 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:45632490G>A ENST00000297323.7 + 2 794 c.772G>A c.(772-774)Gat>Aat p.D258N ADCY1_ENST00000432715.1_Missense_Mutation_p.D33N NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 258 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) GAGGCTGGAGGATGAGAACGA 0.592000 24 25 0 0 0.000295444 0 0 FBXO22 26263 broad.mit.edu 37 15 76225175 76225175 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr15:76225175C>T ENST00000308275.3 + 7 1049 c.944C>T c.(943-945)cCa>cTa p.P315L FBXO22_ENST00000540507.1_Missense_Mutation_p.P211L NM_147188.2 NP_671717.1 Q8NEZ5 FBX22_HUMAN F-box protein 22 315 ubiquitin-dependent protein catabolic process ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 GCCAACATTCCAGAGCATAAC 0.517000 22 28 0 0 0.000175454 0 0 FRMD7 90167 broad.mit.edu 37 X 131218544 131218544 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chrX:131218544G>A ENST00000298542.4 - 8 890 c.715C>T c.(715-717)Ctc>Ttc p.L239F FRMD7_ENST00000464296.1_Missense_Mutation_p.L224F|FRMD7_ENST00000370879.1_Missense_Mutation_p.L119F NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 239 FERM. regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) AGTTTGATGAGAAAATGCTTT 0.323000 45 5 0 0 0.000147903 0 0 GPR112 139378 broad.mit.edu 37 X 135430340 135430340 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chrX:135430340C>T ENST00000394143.1 + 6 4766 c.4475C>T c.(4474-4476)cCa>cTa p.P1492L GPR112_ENST00000394141.1_Missense_Mutation_p.P1287L|GPR112_ENST00000287534.4_Missense_Mutation_p.P1429L|GPR112_ENST00000370652.1_Missense_Mutation_p.P1492L|GPR112_ENST00000412101.1_Missense_Mutation_p.P1287L NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1492 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TTTTCTGTTCCAAATGTACCT 0.448000 14 4 0 0 0.000151284 0 0 RXFP1 59350 broad.mit.edu 37 4 159573010 159573010 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr4:159573010C>T ENST00000307765.5 + 18 2328 c.2077C>T c.(2077-2079)Cat>Tat p.H693Y RXFP1_ENST00000448688.2_Missense_Mutation_p.H588Y|RXFP1_ENST00000343542.5_Missense_Mutation_p.H645Y|RXFP1_ENST00000460056.2_Missense_Mutation_p.H612Y|RXFP1_ENST00000470033.1_Missense_Mutation_p.H660Y NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 693 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) AGAAATGATTCATCGGTTTTG 0.388000 29 38 0 0 0.000184323 0 0 SLC36A3 285641 broad.mit.edu 37 5 150682882 150682882 + Missense_Mutation SNP G G T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:150682882G>T ENST00000335230.3 - 1 445 c.34C>A c.(34-36)Ctg>Atg p.L12M SLC36A3_ENST00000377713.3_Missense_Mutation_p.L12M NM_181774.3 NP_861439.3 Q495N2 S36A3_HUMAN solute carrier family 36, member 3 12 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 21 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGGAGTTCAGCTCACTGTTG 0.512000 8 81 0.000274275 0.00465538 0.000274275 1 0 GPR37 2861 broad.mit.edu 37 7 124386989 124386989 + Nonsense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:124386989G>A ENST00000303921.2 - 2 2082 c.1432C>T c.(1432-1434)Cga>Tga p.R478* NM_005302.2 NP_005293.1 O15354 GPR37_HUMAN G protein-coupled receptor 37 (endothelin receptor type B-like) 478 endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TTATTCCCTCGGGTACAGGCT 0.433000 16 31 0 0 0.000566183 0 0 PTPRD 5789 broad.mit.edu 37 9 8500886 8500886 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr9:8500886G>A ENST00000381196.4 - 21 2539 c.1996C>T c.(1996-1998)Cct>Tct p.P666S PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.P653S|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.P653S|PTPRD_ENST00000540109.1_Missense_Mutation_p.P666S|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.P666S NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 666 Fibronectin type-III 4. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GTGTCCGAAGGAATTCCCAAA 0.478000 TSP Lung(15;0.13) 53 139 0 0 0.000147903 0 0 PARP8 79668 broad.mit.edu 37 5 50091099 50091099 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:50091099C>T ENST00000281631.5 + 12 1434 c.1276C>T c.(1276-1278)Cac>Tac p.H426Y PARP8_ENST00000514067.2_Missense_Mutation_p.H426Y|PARP8_ENST00000505554.1_Missense_Mutation_p.H405Y|PARP8_ENST00000505697.2_Missense_Mutation_p.H426Y|PARP8_ENST00000503750.2_Missense_Mutation_p.H426Y|PARP8_ENST00000514342.2_Missense_Mutation_p.H179Y|PARP8_ENST00000511363.2_3'UTR NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 426 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) ACTGAAAAATCACAAATTGCT 0.448000 19 30 0 0 9.7654e-05 0 0 EPG5 57724 broad.mit.edu 37 18 43534931 43534931 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr18:43534931G>A ENST00000282041.5 - 2 471 c.437C>T c.(436-438)tCg>tTg p.S146L NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 146 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 ACCTTGTACCGACATATTTTC 0.428000 29 61 0 0 0.000279167 0 0 CDCP2 200008 broad.mit.edu 37 1 54610221 54610221 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:54610221G>A ENST00000371330.1 - 2 1192 c.345C>T c.(343-345)acC>acT p.T115T RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_Intron NM_201546.2 NP_963840.2 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 115 CUB 1. extracellular region kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1) 24 GCCAGGAGGAGGTGAAGGGCG 0.602000 24 24 0 0 0.000295444 0 0 MORC1 27136 broad.mit.edu 37 3 108682299 108682299 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:108682299G>A ENST00000232603.5 - 27 2843 c.2761C>T c.(2761-2763)Cgt>Tgt p.R921C MORC1_ENST00000483760.1_Missense_Mutation_p.R900C NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 921 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 AGTTTTATACGAAGATTCTTC 0.358000 42 59 0 0 0.000147903 0 0 KCNH1 3756 broad.mit.edu 37 1 210856840 210856840 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:210856840G>A ENST00000367007.4 - 11 2841 c.2672C>T c.(2671-2673)cCt>cTt p.P891L KCNH1_ENST00000271751.4_Missense_Mutation_p.P918L NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 918 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CGTCTGCTCAGGGATGGGGTA 0.572000 39 22 0 0 0.000159656 0 0 ZAN 7455 broad.mit.edu 37 7 100350305 100350305 + RNA SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:100350305C>T ENST00000542585.1 + 0 2725 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_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) AACCCACCATCCCCACAGAAA 0.488000 34 10 0 0 0.000409698 0 0 ZNF280D 54816 broad.mit.edu 37 15 56958717 56958717 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr15:56958717G>A ENST00000559237.1 - 15 2514 c.1831C>T c.(1831-1833)Cac>Tac p.H611Y ZNF280D_ENST00000396245.1_Missense_Mutation_p.H328Y|ZNF280D_ENST00000267807.7_Missense_Mutation_p.H624Y|ZNF280D_ENST00000559000.1_Missense_Mutation_p.H611Y NM_001002843.1 NP_001002843.1 Q6N043 Z280D_HUMAN zinc finger protein 280D 624 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 30 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) ATGCATTTGTGAATGCCCCGA 0.328000 18 24 0 0 0.000175454 0 0 MUC5B 727897 broad.mit.edu 37 11 1264798 1264798 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:1264798C>T ENST00000447027.1 + 31 6755 c.6697C>T c.(6697-6699)Cct>Tct p.P2233S MUC5B_ENST00000529681.1_Missense_Mutation_p.P2230S|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2230 7 X Cys-rich subdomain repeats.|Thr-rich. V -> G (in Ref. 4; CAA96577). 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) CATCACAGAGCCTTCCACGGT 0.652000 12 10 0 0 9.7654e-05 0 0 SZT2 23334 broad.mit.edu 37 1 43880784 43880784 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:43880784C>T ENST00000562955.1 + 5 530 c.530C>T c.(529-531)tCc>tTc p.S177F NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 177 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TTGGACCCTTCCCAGCGGGAG 0.572000 OREG0013431 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 16 0 0 3.86212e-05 0 0 ANKS1B 56899 broad.mit.edu 37 12 99640561 99640561 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:99640561G>A ENST00000547776.2 - 13 1837 c.1838C>T c.(1837-1839)tCt>tTt p.S613F ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Missense_Mutation_p.S193F|ANKS1B_ENST00000329257.7_Missense_Mutation_p.S613F NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 613 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) ACAGGCTGGAGAGGATCCATG 0.468000 64 84 0 0 0.000147903 0 0 ZBED6CL 113763 broad.mit.edu 37 7 150027560 150027560 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:150027560C>T ENST00000343855.4 + 1 623 c.67C>T c.(67-69)Ctg>Ttg p.L23L LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000359623.4_Intron NM_138434.2 NP_612443.1 ZBED6 C-terminal like GCTGCGCTACCTGCACATCTT 0.647000 64 28 0 0 0.000147903 0 0 CD2 914 broad.mit.edu 37 1 117311214 117311214 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:117311214C>T ENST00000369478.3 + 5 973 c.865C>T c.(865-867)Cgt>Tgt p.R289C NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule 289 Pro-rich. blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) ACCTGGTCATCGTTCCCAGGC 0.587000 17 25 0 0 0.000175454 0 0 TNS4 84951 broad.mit.edu 37 17 38645016 38645016 + Silent SNP C C A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr17:38645016C>A ENST00000254051.6 - 3 803 c.645G>T c.(643-645)ctG>ctT p.L215L NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 215 Ser-rich. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) CTGAGGGGGGCAGAGGGCGCT 0.647000 27 56 3.01185e-09 5.17694e-08 0.000586117 1 0 DMRT1 1761 broad.mit.edu 37 9 916815 916815 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr9:916815C>T ENST00000382276.3 + 4 1024 c.875C>T c.(874-876)tCt>tTt p.S292F DMRT1_ENST00000569227.1_Missense_Mutation_p.S134F NM_021951.2 NP_068770.2 Q9Y5R6 DMRT1_HUMAN doublesex and mab-3 related transcription factor 1 292 cell differentiation|male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(10)|ovary(1) 13 all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232) Lung(218;0.037) AGGATGCATTCTTACTACCCG 0.502000 46 18 0 0 0.000147903 0 0 OR51E2 81285 broad.mit.edu 37 11 4703603 4703603 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:4703603G>A ENST00000396950.3 - 2 578 c.339C>T c.(337-339)atC>atT p.I113I NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) TGGCCAGCAGGATGGTGGATT 0.517000 22 20 0 0 0.000175454 0 0 CNOT3 4849 broad.mit.edu 37 19 54647468 54647468 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:54647468C>T ENST00000406403.1 + 4 1844 c.241C>T c.(241-243)Cgc>Tgc p.R81C CNOT3_ENST00000221232.5_Missense_Mutation_p.R81C|CNOT3_ENST00000358389.3_5'UTR O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 81 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TATAGACAACCGCAAGCTCAT 0.557000 22 21 0 0 0.000175454 0 0 DLEC1 9940 broad.mit.edu 37 3 38158038 38158038 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:38158038G>A ENST00000308059.6 + 28 3972 c.3951G>A c.(3949-3951)cgG>cgA p.R1317R DLEC1_ENST00000452631.2_Silent_p.R1320R|DLEC1_ENST00000346219.3_Silent_p.R1317R Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 1317 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) TCCCGCTGCGGGACCAAGCCG 0.597000 31 57 0 0 0.000491102 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54912499 54912499 + Missense_Mutation SNP C C A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:54912499C>A ENST00000293373.6 + 14 1482 c.1403C>A c.(1402-1404)tCt>tAt p.S468Y NCKAP1L_ENST00000545638.2_Missense_Mutation_p.S418Y NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 468 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 ATCCTCTCCTCTCTGAATCTC 0.468000 72 82 7.09011e-46 1.24232e-44 0.000147903 1 0 TRIM60 166655 broad.mit.edu 37 4 165962177 165962177 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr4:165962177G>A ENST00000512596.1 + 3 1169 c.953G>A c.(952-954)cGa>cAa p.R318Q TRIM60_ENST00000341062.5_Missense_Mutation_p.R318Q|TRIM60_ENST00000508504.1_Missense_Mutation_p.R318Q NM_152620.2 NP_689833.1 Q495X7 TRI60_HUMAN tripartite motif containing 60 318 B30.2/SPRY. intracellular zinc ion binding p.R318Q(1) NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 29 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) AAAGCTGTGCGATATGAAAGA 0.413000 49 50 0 0 0.000147903 0 0 OSBPL10 114884 broad.mit.edu 37 3 32022478 32022478 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:32022478G>A ENST00000396556.2 - 1 316 c.194C>T c.(193-195)cCg>cTg p.P65L OSBPL10_ENST00000438237.2_Missense_Mutation_p.P65L NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 65 lipid transport lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) TCCCCCGGACGGGCTAGCGGC 0.756000 4 10 0 0 1.23904e-05 0 0 TRBV6-1 28606 broad.mit.edu 37 7 142028416 142028416 + RNA SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:142028416C>T ENST00000390353.2 + 0 207 ACCATAACTCCATGTACTGGT 0.502000 16 146 0 0 7.07596e-05 0 0 HCN1 348980 broad.mit.edu 37 5 45645578 45645578 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:45645578G>A ENST00000303230.4 - 2 615 c.558C>T c.(556-558)ttC>ttT p.F186F NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 186 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 GGTCCAATAGGAAAACTGTAT 0.368000 16 21 0 0 0.000308642 0 0 ANO3 63982 broad.mit.edu 37 11 26655833 26655833 + Silent SNP C C T rs144906007 TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:26655833C>T ENST00000256737.3 + 19 2808 c.1956C>T c.(1954-1956)tcC>tcT p.S652S ANO3_ENST00000525139.1_Silent_p.S636S|ANO3_ENST00000537978.1_Silent_p.S636S|ANO3_ENST00000531568.1_Silent_p.S506S NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 652 chloride channel complex chloride channel activity 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 TAAACAGTTCCATCTTCTATA 0.373000 11 7 0 0 0.00010058 0 0 SMAD6 4091 broad.mit.edu 37 15 67073543 67073543 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr15:67073543C>T ENST00000288840.5 + 4 2192 c.1161C>T c.(1159-1161)atC>atT p.I387I SMAD6_ENST00000338426.4_Silent_p.I126I NM_005585.4 NP_005576.3 O43541 SMAD6_HUMAN SMAD family member 6 387 MH2. BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis cytosol|transcription factor complex co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding lung(1)|skin(1) 2 GCAGCAAGATCGGCTTCGGCA 0.672000 12 16 0 0 0.000151284 0 0 MYLK 4638 broad.mit.edu 37 3 123366165 123366165 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:123366165C>T ENST00000360772.3 - 28 4903 c.4525G>A c.(4525-4527)Gag>Aag p.E1509K MYLK_ENST00000360304.3_Missense_Mutation_p.E1509K|MYLK_ENST00000359169.1_Missense_Mutation_p.E1509K|MYLK_ENST00000346322.5_Missense_Mutation_p.E1440K|MYLK_ENST00000354792.5_Missense_Mutation_p.E309K|MYLK_ENST00000475616.1_Missense_Mutation_p.E1509K Q15746 MYLK_HUMAN myosin light chain kinase 1509 Protein kinase. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) ATGCTAATCTCCTGCCGGATA 0.468000 13 35 0 0 0.000308642 0 0 BTN3A1 11119 broad.mit.edu 37 6 26413833 26413833 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:26413833C>T ENST00000289361.6 + 10 1823 c.1455C>T c.(1453-1455)ttC>ttT p.F485F BTN3A1_ENST00000414912.2_Silent_p.F433F 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 485 B30.2/SPRY. 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 TTCATACTTTCCTGGACGTCT 0.463000 45 149 0 0 0.000147903 0 0 CD40 958 broad.mit.edu 37 20 44751836 44751836 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr20:44751836G>A ENST00000372285.3 + 5 547 c.475G>A c.(475-477)Gaa>Aaa p.E159K CD40_ENST00000372276.3_Missense_Mutation_p.E159K|CD40_ENST00000489304.1_3'UTR NM_001250.4 NP_001241.1 P25942 TNR5_HUMAN CD40 molecule, TNF receptor superfamily member 5 159 B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly CD40 receptor complex|extracellular region enzyme binding|receptor activity p.E159K(1) endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Myeloproliferative disorder(115;0.0122) Simvastatin(DB00641) ATCTGCTTTCGAAAAATGTCA 0.532000 Immune Deficiency with Hyper-IgM 75 100 0 0 0.000147903 0 0 GRIA1 2890 broad.mit.edu 37 5 153174185 153174185 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:153174185C>T ENST00000285900.5 + 14 2618 c.2275C>T c.(2275-2277)Cca>Tca p.P759S GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000521843.2_Missense_Mutation_p.P690S|GRIA1_ENST00000518142.1_Missense_Mutation_p.P679S|GRIA1_ENST00000518783.1_Missense_Mutation_p.P769S|GRIA1_ENST00000340592.5_Intron NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 759 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TTAAAGAAATCCAGTAAACCT 0.478000 11 13 0 0 6.40141e-05 0 0 EFCAB6 64800 broad.mit.edu 37 22 43926756 43926756 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr22:43926756C>T ENST00000262726.7 - 31 4575 c.4322G>A c.(4321-4323)cGc>cAc p.R1441H EFCAB6_ENST00000396231.2_Missense_Mutation_p.R1289H|EFCAB6_ENST00000461800.1_5'UTR|EFCAB6-AS1_ENST00000431327.2_RNA NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 1441 EF-hand 16.|Interaction with AR.|Interaction with PARK7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) TTTGAACGTGCGCCGCATTGG 0.562000 33 43 0 0 0.000132358 0 0 DAB1 1600 broad.mit.edu 37 1 57537964 57537964 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:57537964C>T ENST00000371236.2 - 5 693 c.430G>A c.(430-432)Gcc>Acc p.A144T DAB1_ENST00000414851.2_Missense_Mutation_p.A144T|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000371234.4_Missense_Mutation_p.A144T|DAB1_ENST00000371231.1_Missense_Mutation_p.A144T|DAB1_ENST00000420954.2_Missense_Mutation_p.A144T|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371230.1_Missense_Mutation_p.A144T O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 144 PID. cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 ACCGCCTGGGCTGTTTTTATG 0.493000 23 27 0 0 0.000586117 0 0 CCER1 196477 broad.mit.edu 37 12 91347349 91347349 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:91347349G>A ENST00000358859.2 - 1 1604 c.1171C>T c.(1171-1173)Ccc>Tcc p.P391S CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 GGCACTTTGGGAATTATCTGC 0.413000 30 37 0 0 0.000109025 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215081 140215081 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:140215081G>A ENST00000525929.1 + 1 1113 c.1113G>A c.(1111-1113)ttG>ttA p.L371L PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.L371L|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCATCACATTGATTAGCGTGT 0.502000 64 78 0 0 0.000147903 0 0 IGHD 3495 broad.mit.edu 37 14 106307415 106307415 + RNA SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr14:106307415C>T ENST00000390556.2 - 0 622 TGGGGACCTTCCCGGCCACCT 0.662000 7 10 0 0 8.12818e-05 0 0 ESR2 2100 broad.mit.edu 37 14 64723949 64723949 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr14:64723949C>T ENST00000557772.1 - 5 1085 c.1086G>A c.(1084-1086)ctG>ctA p.L362L ESR2_ENST00000555278.1_Silent_p.L362L|ESR2_ENST00000554572.1_Silent_p.L362L|ESR2_ENST00000553796.1_Silent_p.L362L|ESR2_ENST00000358599.5_Silent_p.L362L|ESR2_ENST00000357782.2_Silent_p.L362L|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000353772.3_Silent_p.L362L|ESR2_ENST00000542956.1_Silent_p.L362L|ESR2_ENST00000267525.6_Intron|ESR2_ENST00000341099.4_Silent_p.L362L NM_001214903.1 NP_001201832.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) 362 Steroid-binding. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) CTCACCTGTCCAGAACAAGAT 0.468000 41 48 0 0 0.000589545 0 0 GYS2 2998 broad.mit.edu 37 12 21721862 21721862 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:21721862C>T ENST00000261195.2 - 5 1014 c.760G>A c.(760-762)Gtg>Atg p.V254M NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 254 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity p.V254M(1) NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 GTGGTGAACACGTGAGCGCAA 0.428000 25 37 0 0 0.000375601 0 0 SFTPA1 653509 broad.mit.edu 37 10 81373830 81373830 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr10:81373830G>A ENST00000398636.3 + 6 846 c.708G>A c.(706-708)agG>agA p.R236R SFTPA1_ENST00000372308.3_Silent_p.R236R|SFTPA1_ENST00000428376.2_Silent_p.R236R|SFTPA1_ENST00000372313.5_Silent_p.R177R|SFTPA1_ENST00000419470.2_Silent_p.R251R NM_001164644.1|NM_001164646.1|NM_005411.4 NP_001158116.1|NP_001158118.1|NP_005402.3 Q8IWL2 SFTA1_HUMAN surfactant protein A1 236 C-type lectin. cell junction assembly|respiratory gaseous exchange collagen|extracellular space lipid transporter activity|sugar binding endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) GGAATGACAGGAACTGCCTGT 0.582000 37 32 0 0 0.000228196 0 0 AIM1 202 broad.mit.edu 37 6 107001438 107001438 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:107001438G>A ENST00000369066.3 + 14 4844 c.4357G>A c.(4357-4359)Ggc>Agc p.G1453S AIM1_ENST00000535438.1_Missense_Mutation_p.G272S NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 1453 Beta/gamma crystallin 'Greek key' 10. sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) AGTTTCAGGAGGCAGGTAAGT 0.408000 17 20 0 0 7.07596e-05 0 0 ST18 9705 broad.mit.edu 37 8 53084982 53084982 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr8:53084982C>T ENST00000276480.7 - 10 1122 c.439G>A c.(439-441)Gaa>Aaa p.E147K NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 147 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E147K(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TTTAAATTTTCACTTACAGTC 0.378000 34 37 0 0 0.000191422 0 0 ADAR 103 broad.mit.edu 37 1 154557721 154557721 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:154557721G>A ENST00000368474.4 - 14 3614 c.3415C>T c.(3415-3417)Ctg>Ttg p.L1139L ADAR_ENST00000368471.3_Silent_p.L844L|ADAR_ENST00000292205.5_Silent_p.L1182L NM_001111.4|NM_015840.3|NM_015841.3 NP_001102.2|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 1139 A to I editase. adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) GTACCGTCCAGGATCTCCAGG 0.542000 51 63 0 0 0.000147903 0 0 EPB41 2035 broad.mit.edu 37 1 29319973 29319973 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:29319973C>T ENST00000343067.4 + 3 727 c.600C>T c.(598-600)tcC>tcT p.S200S EPB41_ENST00000398863.2_Silent_p.S200S|EPB41_ENST00000373797.1_Silent_p.S200S|EPB41_ENST00000373798.1_Silent_p.S200S|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000356093.2_Silent_p.S200S|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000347529.3_Silent_p.S200S NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 200 blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) TAAAAGCTTCCCAAAAACCAA 0.363000 40 45 0 0 0.000191422 0 0 ZDHHC19 131540 broad.mit.edu 37 3 195938160 195938160 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:195938160C>T ENST00000296326.3 - 1 106 c.27G>A c.(25-27)ccG>ccA p.P9P ZDHHC19_ENST00000488508.1_5'UTR NM_001039617.1 NP_001034706.1 Q8WVZ1 ZDH19_HUMAN zinc finger, DHHC-type containing 19 9 integral to membrane acyltransferase activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3) 14 all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0022) CCTTCACCAGCGGCGTGGCAT 0.627000 24 55 0 0 0.000586117 0 0 CASS4 57091 broad.mit.edu 37 20 55027325 55027325 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr20:55027325G>A ENST00000371336.3 + 5 1294 c.1093G>A c.(1093-1095)Gag>Aag p.E365K CASS4_ENST00000360314.3_Missense_Mutation_p.E365K|CASS4_ENST00000434344.1_Intron NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 365 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 GGCTGGGAAGGAGCTGGAGAA 0.507000 20 28 0 0 0.000175454 0 0 PHRF1 57661 broad.mit.edu 37 11 609395 609395 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:609395C>T ENST00000264555.5 + 14 4067 c.3939C>T c.(3937-3939)agC>agT p.S1313S PHRF1_ENST00000413872.2_Silent_p.S1311S|PHRF1_ENST00000533464.1_Silent_p.S1309S|PHRF1_ENST00000416188.2_Silent_p.S1312S NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 1313 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 CCCCAGCCAGCCTGGCCGTGG 0.632000 6 12 0 0 8.12818e-05 0 0 CALB2 794 broad.mit.edu 37 16 71411602 71411602 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr16:71411602C>T ENST00000302628.4 + 4 371 c.294C>T c.(292-294)ttC>ttT p.F98F CALB2_ENST00000349553.5_Silent_p.F98F NM_001740.4 NP_001731.2 P22676 CALB2_HUMAN calbindin 2 98 EF-hand 2. calcium ion binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(137;0.125) AAGAGAACTTCCTTCTGTGCT 0.557000 29 41 0 0 0.000184323 0 0 HOXD10 3236 broad.mit.edu 37 2 176983919 176983919 + Missense_Mutation SNP A A G TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:176983919A>G ENST00000249501.4 + 2 1238 c.983A>G c.(982-984)aAc>aGc p.N328S HOXD10_ENST00000490088.2_3'UTR NM_002148.3 NP_002139.2 P28358 HXD10_HUMAN homeobox D10 328 nucleus sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) AGCCGAGAGAACCGGATCCGA 0.562000 16 36 0 0 7.07596e-05 0 0 TRGV3 6976 broad.mit.edu 37 7 38398612 38398612 + RNA SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:38398612G>A ENST00000390346.2 - 0 151 GAAGGAAACGGACCAGATGAA 0.552000 6 2 0 0 3.59834e-05 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45555814 45555814 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr18:45555814G>A ENST00000588982.1 - 4 2178 c.1677C>T c.(1675-1677)ttC>ttT p.F559F ZBTB7C_ENST00000535628.2_Silent_p.F559F|ZBTB7C_ENST00000586438.1_Silent_p.F559F|ZBTB7C_ENST00000332053.2_Silent_p.F559F|ZBTB7C_ENST00000590800.1_Silent_p.F559F A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 559 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 GCGCGCGCCCGAACAGCTTCA 0.726000 16 18 0 0 0.000422831 0 0 CFH 3075 broad.mit.edu 37 1 196643044 196643044 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:196643044G>A ENST00000367429.4 + 3 542 c.302G>A c.(301-303)gGa>gAa p.G101E CFH_ENST00000439155.2_Missense_Mutation_p.G101E|CFH_ENST00000359637.2_Missense_Mutation_p.G101E NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 101 Sushi 2. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 CTTACAGGAGGAAATGTGTTT 0.343000 53 51 0 0 0.000147903 0 0 EFNB3 1949 broad.mit.edu 37 17 7612849 7612849 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr17:7612849G>A ENST00000226091.2 + 5 1375 c.978G>A c.(976-978)caG>caA p.Q326Q NM_001406.3 NP_001397.1 Q15768 EFNB3_HUMAN ephrin-B3 326 cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 8 all_cancers(10;1.14e-06)|Prostate(122;0.081) ATATCGTGCAGGATGGGCCCC 0.592000 30 2 0 0 0.000132358 0 0 MYLK 4638 broad.mit.edu 37 3 123376127 123376127 + Nonsense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:123376127C>T ENST00000360772.3 - 25 4512 c.4134G>A c.(4132-4134)tgG>tgA p.W1378* MYLK_ENST00000360304.3_Nonsense_Mutation_p.W1378*|MYLK_ENST00000359169.1_Nonsense_Mutation_p.W1378*|MYLK_ENST00000346322.5_Nonsense_Mutation_p.W1309*|MYLK_ENST00000354792.5_Nonsense_Mutation_p.W178*|MYLK_ENST00000475616.1_Nonsense_Mutation_p.W1378* Q15746 MYLK_HUMAN myosin light chain kinase 1378 Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CTAGTTCCTTCCACGTCTTGT 0.537000 25 26 0 0 0.000586117 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156618031 156618031 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr4:156618031G>A ENST00000296518.7 + 3 221 c.12G>A c.(10-12)acG>acA p.T4T GUCY1A3_ENST00000506455.1_Silent_p.T4T|GUCY1A3_ENST00000455639.2_Silent_p.T4T|GUCY1A3_ENST00000393832.3_Intron|GUCY1A3_ENST00000511108.1_Silent_p.T4T|GUCY1A3_ENST00000513574.1_Silent_p.T4T|GUCY1A3_ENST00000511507.1_Silent_p.T4T|GUCY1A3_ENST00000515602.1_Intron Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 4 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) TGTTCTGCACGAAGCTCAAGG 0.488000 4 18 0 0 1.23904e-05 0 0 ZNF474 133923 broad.mit.edu 37 5 121488712 121488712 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:121488712G>A ENST00000296600.4 + 2 1410 c.1027G>A c.(1027-1029)Gta>Ata p.V343I ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA NM_207317.1 NP_997200.1 Q6S9Z5 ZN474_HUMAN zinc finger protein 474 343 intracellular zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1) 21 all_cancers(142;0.229)|Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415) AGCACCCAGTGTAACTGATAA 0.458000 16 30 0 0 0.000422831 0 0 OTOP1 133060 broad.mit.edu 37 4 4199727 4199727 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr4:4199727C>T ENST00000296358.4 - 5 858 c.834G>A c.(832-834)caG>caA p.Q278Q NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 278 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AGGCCAGGATCTGATACTCTA 0.532000 30 45 0 0 0.000279167 0 0 SAMD9 54809 broad.mit.edu 37 7 92732356 92732356 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:92732356C>T ENST00000379958.2 - 3 3324 c.3055G>A c.(3055-3057)Gat>Aat p.D1019N NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1019 cytoplasm p.D1019N(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) ATACCAGTATCGAAGAACAAA 0.368000 24 17 0 0 0.00047179 0 0 FLT4 2324 broad.mit.edu 37 5 180056356 180056356 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:180056356G>A ENST00000261937.6 - 7 966 c.888C>T c.(886-888)acC>acT p.T296T FLT4_ENST00000393347.3_Silent_p.T296T|FLT4_ENST00000502649.1_Silent_p.T296T|FLT4_ENST00000424276.2_5'UTR NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 296 Ig-like C2-type 3. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CGTTGTGGATGGTCAGGATGC 0.627000 24 26 0 0 0.000117367 0 0 CFHR4 10877 broad.mit.edu 37 1 196857321 196857321 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:196857321C>T ENST00000367416.2 + 1 178 c.41C>T c.(40-42)tCc>tTc p.S14F CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.S14F|CFHR4_ENST00000251424.4_Missense_Mutation_p.S14F NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 TTGTGGGTTTCCTGTGCTAAT 0.343000 11 16 0 0 0.000151284 0 0 PRDM9 56979 broad.mit.edu 37 5 23527798 23527798 + Silent SNP G G T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:23527798G>T ENST00000296682.3 + 11 2783 c.2601G>T c.(2599-2601)cgG>cgT p.R867R NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 867 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 AGTGTGGGCGGGGCTTTAGCG 0.557000 HNSCC(3;0.000094) 16 37 4.14922e-12 7.17742e-11 0.000422831 1 0 MYO7B 4648 broad.mit.edu 37 2 128345966 128345966 + Splice_Site SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:128345966G>A ENST00000389524.4 + 15 1743 c.e15-1 MYO7B_ENST00000428314.1_Splice_Site|MYO7B_ENST00000409816.2_Splice_Site Q6PIF6 MYO7B_HUMAN myosin VIIB apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) TGTCTCCACAGGCTTCCTGGA 0.542000 9 20 0 0 3.86212e-05 0 0 HYDIN 54768 broad.mit.edu 37 16 70871612 70871612 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr16:70871612C>T ENST00000393567.2 - 77 13373 c.13223G>A c.(13222-13224)gGg>gAg p.G4408E NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4408 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GGTACCCTTCCCTTTGATTTC 0.458000 16 26 0 0 0.000229342 0 0 LRP1B 53353 broad.mit.edu 37 2 141777598 141777598 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:141777598C>T ENST00000389484.3 - 12 2834 c.1863G>A c.(1861-1863)agG>agA p.R621R NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 621 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) TAATGGTTTTCCTATGGCCAT 0.418000 TSP Lung(27;0.18) 17 20 0 0 9.7654e-05 0 0 OR2A5 393046 broad.mit.edu 37 7 143748394 143748394 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:143748394C>T ENST00000408906.2 + 1 934 c.900C>T c.(898-900)gcC>gcT p.A300A NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 300 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) TCAAGGGTGCCCTGAAAAGAG 0.493000 5 77 0 0 0.000157383 0 0 SPNS3 201305 broad.mit.edu 37 17 4389851 4389851 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr17:4389851G>A ENST00000355530.2 + 11 1703 c.1423G>A c.(1423-1425)Gag>Aag p.E475K SPNS3_ENST00000333476.2_Missense_Mutation_p.E348K NM_182538.4 NP_872344.3 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 (Drosophila) 475 lipid transport|transmembrane transport integral to membrane NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 GGAGAGAGACGAGACCCGGGC 0.677000 20 9 0 0 0.000586117 0 0 DSG4 147409 broad.mit.edu 37 18 28986203 28986203 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr18:28986203C>T ENST00000359747.4 + 12 1829 c.1800C>T c.(1798-1800)gcC>gcT p.A600A RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Silent_p.A600A|RP11-534N16.1_ENST00000581856.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 600 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ACTCTGGTGCCGCGGGCATCT 0.502000 32 62 0 0 0.000409698 0 0 UNC93A 54346 broad.mit.edu 37 6 167711438 167711438 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:167711438C>T ENST00000230256.3 + 4 680 c.505C>T c.(505-507)Ctt>Ttt p.L169F UNC93A_ENST00000366829.2_Intron NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) 169 integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) CATAGAGACCCTTCCAGAAGA 0.532000 33 47 0 0 0.000109025 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25161438 25161438 + RNA SNP T T A rs3869320 by1000genomes TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr13:25161438T>A ENST00000453498.1 + 0 962 CTCTTTATAATAAGATTCATT 0.378000 6 35 0 0 0.000157383 0 0 NOS1 4842 broad.mit.edu 37 12 117728218 117728218 + Missense_Mutation SNP C C T rs147820513 TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:117728218C>T ENST00000317775.6 - 4 1551 c.866G>A c.(865-867)gGa>gAa p.G289E NOS1_ENST00000344089.3_Missense_Mutation_p.E308K|NOS1_ENST00000338101.4_Missense_Mutation_p.G289E NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 289 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.G289E(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GGACTGTTTTCCTGAGGTGGG 0.557000 18 18 0 0 9.7654e-05 0 0 FLNB 2317 broad.mit.edu 37 3 58135878 58135878 + Missense_Mutation SNP G G C TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:58135878G>C ENST00000357272.4 + 38 6456 c.6291G>C c.(6289-6291)gaG>gaC p.E2097D FLNB_ENST00000493452.1_Missense_Mutation_p.E1904D|FLNB_ENST00000295956.4_Missense_Mutation_p.E2097D|FLNB_ENST00000490882.1_Missense_Mutation_p.E2128D|FLNB_ENST00000358537.3_Missense_Mutation_p.E2073D|FLNB_ENST00000429972.2_Missense_Mutation_p.E2086D|FLNB_ENST00000348383.5_Intron|FLNB_ENST00000419752.2_Missense_Mutation_p.E1917D O75369 FLNB_HUMAN filamin B, beta 2097 Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GAGTCAAAGAGAGCATCACCC 0.597000 52 111 0 0 0.000147903 0 0 OR4P4 81300 broad.mit.edu 37 11 55406440 55406440 + Silent SNP T T C TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:55406440T>C ENST00000314612.2 + 1 607 c.607T>C c.(607-609)Tta>Cta p.L203L NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 TAATTCAGGCTTAATTGCTTT 0.373000 23 33 0 0 0.000229342 0 0 MIR1324 100302212 broad.mit.edu 37 3 75679939 75679939 + RNA SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:75679939C>T ENST00000408868.1 + 0 26 NR_031714.1 GAAGCCTGGTCCTGCCCTCAC 0.552000 8 47 0 0 6.40141e-05 0 0 MYBPH 4608 broad.mit.edu 37 1 203140242 203140242 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:203140242C>T ENST00000255416.4 - 6 937 c.880G>A c.(880-882)Ggc>Agc p.G294S NM_004997.2 NP_004988.2 Q13203 MYBPH_HUMAN myosin binding protein H 294 Fibronectin type-III 2. cell adhesion|regulation of striated muscle contraction myosin filament structural constituent of muscle endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.153) Colorectal(1306;0.0306) TCTGTGTTGCCTGTGTCCTGG 0.607000 22 48 0 0 0.000586117 0 0 SPRR1B 6699 broad.mit.edu 37 1 153004998 153004998 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:153004998C>T ENST00000307098.4 + 2 242 c.177C>T c.(175-177)ccC>ccT p.P59P SPRR1B_ENST00000392661.3_Intron NM_003125.2 NP_003116.2 P22528 SPR1B_HUMAN small proline-rich protein 1B 59 6 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking cornified envelope|cytoplasm protein binding, bridging|structural molecule activity p.C41_P64delCHPKVPEPCHPKVPEPCQPKVPEP(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2) 9 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCTGCCAGCCCAAGGTTCCAG 0.617000 34 49 0 0 0.000109025 0 0 MUC16 94025 broad.mit.edu 37 19 9054252 9054252 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:9054252G>A ENST00000397910.4 - 4 31573 c.31370C>T c.(31369-31371)tCg>tTg p.S10457L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10459 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACTGGCAGGCGAAGTGGATGT 0.448000 7 5 0 0 0.000157383 0 0 AGA 175 broad.mit.edu 37 4 178358577 178358577 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr4:178358577G>A ENST00000264595.2 - 5 731 c.604C>T c.(604-606)Cgt>Tgt p.R202C AGA_ENST00000506853.1_5'UTR NM_000027.3|NM_001171988.1 NP_000018.2|NP_001165459.1 P20933 ASPG_HUMAN aspartylglucosaminidase 202 asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2) 16 all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245) all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163) TCATGACCACGATCATCTTCT 0.373000 26 24 0 0 0.000586117 0 0 LOC728554 728554 broad.mit.edu 37 5 177310974 177310974 + RNA SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:177310974C>T ENST00000506672.1 + 0 1271 NR_003615.2 CTGCGCATTTCGTTCTTTTGC 0.463000 8 7 0 0 0.000157383 0 0 MEFV 4210 broad.mit.edu 37 16 3293453 3293453 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr16:3293453C>T ENST00000219596.1 - 10 2073 c.2034G>A c.(2032-2034)ggG>ggA p.G678G MEFV_ENST00000536379.1_Silent_p.G467G|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.G498G NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 678 B30.2/SPRY. G -> E (in arFMF). inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) GAGTCATGTTCCCTTTCCTGC 0.547000 35 58 0 0 0.000191422 0 0 TRGV2 6974 broad.mit.edu 37 7 38402966 38402966 + RNA SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:38402966G>A ENST00000426402.2 - 0 153 AAAGGGACCAGATGAAGAGGA 0.542000 11 9 0 0 3.86212e-05 0 0 PRMT5 10419 broad.mit.edu 37 14 23393554 23393554 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr14:23393554G>A ENST00000324366.8 - 11 1347 c.1124C>T c.(1123-1125)tCc>tTc p.S375F PRMT5_ENST00000216350.8_Missense_Mutation_p.S314F|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000599580.1_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.S269F|PRMT5_ENST00000553897.1_Missense_Mutation_p.S331F|PRMT5_ENST00000397441.2_Missense_Mutation_p.S358F|PRMT5_ENST00000397440.4_Missense_Mutation_p.S204F NM_006109.3 NP_006100.2 O14744 ANM5_HUMAN protein arginine methyltransferase 5 375 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 25 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) TGCCCGCAGGGAAGCGTTCAC 0.547000 33 38 0 0 0.000109025 0 0 OR4C15 81309 broad.mit.edu 37 11 55322479 55322479 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:55322479G>A ENST00000314644.2 + 1 697 c.697G>A c.(697-699)Gac>Aac p.D233N NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 179 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 CTTTATGTGTGACTTGTACCC 0.458000 HNSCC(20;0.049) 4 8 0 0 0.00024832 0 0 NBPF1 55672 broad.mit.edu 37 1 16893761 16893761 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:16893761G>A ENST00000430580.2 - 25 3639 c.2752C>T c.(2752-2754)Ctt>Ttt p.L918F NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_3'UTR NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 918 NBPF 5. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GTCAGTTCAAGATAACCTGAA 0.498000 17 517 0 0 0.000566183 0 0 ADD2 119 broad.mit.edu 37 2 70890787 70890787 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:70890787C>T ENST00000264436.3 - 16 2395 c.1951G>A c.(1951-1953)Ggg>Agg p.G651R ADD2_ENST00000355733.3_3'UTR|ADD2_ENST00000407644.2_Missense_Mutation_p.G651R NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) 651 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 TCCTCCCTCCCGTTGACCACC 0.522000 30 50 0 0 0.000339439 0 0 AADAC 13 broad.mit.edu 37 3 151545698 151545698 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:151545698G>A ENST00000232892.6 + 5 1064 c.938G>A c.(937-939)gGg>gAg p.G313E RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA NM_001086.2 NP_001077.2 P22760 AAAD_HUMAN arylacetamide deacetylase 313 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) AAATATCCAGGGTTCCTAGAT 0.418000 15 17 0 0 0.000422831 0 0 LRP1 4035 broad.mit.edu 37 12 57579463 57579463 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:57579463G>A ENST00000243077.3 + 41 7079 c.6613G>A c.(6613-6615)Gag>Aag p.E2205K NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2205 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GCTCTACTCAGAGCGCACCAT 0.637000 8 10 0 0 3.86212e-05 0 0 EPN3 55040 broad.mit.edu 37 17 48614080 48614080 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr17:48614080G>A ENST00000268933.3 + 2 742 c.163G>A c.(163-165)Gaa>Aaa p.E55K EPN3_ENST00000541226.1_5'UTR|EPN3_ENST00000537145.1_Missense_Mutation_p.E110K NM_017957.2 NP_060427.2 Q9H201 EPN3_HUMAN epsin 3 55 ENTH. clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;2.88e-09) GGCCTTCACCGAAGTCATGGG 0.597000 63 33 0 0 0.000147903 0 0 HLA-DQA2 3118 broad.mit.edu 37 6 32713773 32713773 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:32713773C>T ENST00000374940.3 + 3 639 c.537C>T c.(535-537)ttC>ttT p.F179F NM_020056.4 NP_064440.1 P01906 DQA2_HUMAN major histocompatibility complex, class II, DQ alpha 2 179 Alpha-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity endometrium(2)|large_intestine(3)|lung(7)|skin(1) 13 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACCTCACCTTCCTCCCTTCTG 0.512000 50 203 0 0 0.000147903 0 0 HIF3A 64344 broad.mit.edu 37 19 46832463 46832463 + Splice_Site SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:46832463G>A ENST00000339613.2 + 12 1527 c.e12-1 HIF3A_ENST00000377670.4_Splice_Site|HIF3A_ENST00000244303.6_Splice_Site|HIF3A_ENST00000472815.1_Intron|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000300862.3_Splice_Site|HIF3A_ENST00000420102.2_Splice_Site|HIF3A_ENST00000600383.1_Splice_Site Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) GCCCTCCGCAGGATGCTGATG 0.577000 31 42 0 0 0.000159656 0 0 TBXA2R 6915 broad.mit.edu 37 19 3600597 3600597 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:3600597G>A ENST00000375190.4 - 2 429 c.36C>T c.(34-36)ttC>ttT p.F12F TBXA2R_ENST00000411851.3_Silent_p.F12F|TBXA2R_ENST00000589966.1_Silent_p.F12F NM_001060.5|NM_201636.2 NP_001051.1|NP_963998.2 P21731 TA2R_HUMAN thromboxane A2 receptor 12 platelet activation integral to plasma membrane guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) Ridogrel(DB01207) TTGTGGGCCGGAAACAGGGCC 0.672000 10 17 0 0 6.40141e-05 0 0 CANT1 124583 broad.mit.edu 37 17 76993169 76993169 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr17:76993169G>A ENST00000302345.2 - 2 1030 c.536C>T c.(535-537)tCc>tTc p.S179F CANT1_ENST00000392446.5_Missense_Mutation_p.S179F|CANT1_ENST00000591773.1_Missense_Mutation_p.S179F NM_001159773.1|NM_138793.3 NP_001153245.1|NP_620148.1 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 179 positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity p.S179F(1) CANT1/ETV4(3) cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) GTCATCCACGGAGTAGAGTTT 0.587000 T ETV4 prostate 99 71 0 0 0.000147903 0 0 GPR98 84059 broad.mit.edu 37 5 90106807 90106807 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:90106807C>T ENST00000405460.2 + 74 15826 c.15730C>T c.(15730-15732)Ctt>Ttt p.L5244F GPR98_ENST00000425867.2_Missense_Mutation_p.L905F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5244 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGCAGAAGTTCTTATCCGAAG 0.423000 36 42 0 0 0.000319135 0 0 WHSC1 7468 broad.mit.edu 37 4 1957846 1957846 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr4:1957846C>T ENST00000382895.3 + 17 3243 c.2812C>T c.(2812-2814)Ccg>Tcg p.P938S WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000508803.1_Missense_Mutation_p.P938S|WHSC1_ENST00000382891.5_Missense_Mutation_p.P938S|WHSC1_ENST00000382892.2_Missense_Mutation_p.P938S|WHSC1_ENST00000382888.3_Missense_Mutation_p.P286S NM_133330.2 NP_579877.1 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 938 PWWP 2. 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) GCGAGTGTTCCCGTACATGGA 0.498000 T IGH@ MM 97 111 0 0 0.000147903 0 0 IGHV3-20 28445 broad.mit.edu 37 14 106668007 106668007 + RNA SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr14:106668007G>A ENST00000390606.2 - 0 88 TAGCAACAAGGAAAACCCAGC 0.483000 45 66 0 0 0.000147903 0 0 SCN9A 6335 broad.mit.edu 37 2 167133802 167133802 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:167133802C>T ENST00000303354.6 - 16 2908 c.2568G>A c.(2566-2568)ctG>ctA p.L856L AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Silent_p.L856L|SCN9A_ENST00000409435.1_Silent_p.L855L|SCN9A_ENST00000409672.1_Silent_p.L844L Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 855 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TGATCTTAATCAGCATGTTCA 0.398000 9 22 0 0 0.000274275 0 0 DOK7 285489 broad.mit.edu 37 4 3465143 3465143 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr4:3465143G>A ENST00000340083.5 + 1 106 c.41G>A c.(40-42)cGg>cAg p.R14Q DOK7_ENST00000389653.2_Missense_Mutation_p.R14Q|DOK7_ENST00000507039.1_Missense_Mutation_p.R14Q NM_173660.4 NP_775931.3 Q18PE1 DOK7_HUMAN docking protein 7 14 PH. positive regulation of protein tyrosine kinase activity cell junction|synapse insulin receptor binding|protein kinase binding kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 5 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GTCAAGCTGCGGGACGGCAAG 0.766000 11 11 0 0 0.000219431 0 0 COQ10A 93058 broad.mit.edu 37 12 56662922 56662922 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:56662922C>T ENST00000308197.5 + 3 622 c.361C>T c.(361-363)Ctg>Ttg p.L121L COQ10A_ENST00000546544.1_Silent_p.L104L|COQ10A_ENST00000433805.2_Silent_p.L89L|RP11-977G19.14_ENST00000546464.1_RNA NM_144576.3 NP_653177.3 Q96MF6 CQ10A_HUMAN coenzyme Q10 homolog A (S. cerevisiae) 121 mitochondrial inner membrane cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 8 TAAGAAGTCTCTGGTGGTATC 0.502000 64 73 0 0 0.000147903 0 0 OR5H14 403273 broad.mit.edu 37 3 97868313 97868313 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:97868313C>T ENST00000437310.1 + 1 144 c.84C>T c.(82-84)ttC>ttT p.F28F NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F28L(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 TACCCCTGTTCCTGGCATTCT 0.423000 23 30 0 0 0.000159656 0 0 RANBP17 64901 broad.mit.edu 37 5 170648799 170648799 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:170648799G>A ENST00000523189.1 + 22 2541 c.2377G>A c.(2377-2379)Gga>Aga p.G793R RANBP17_ENST00000521759.1_3'UTR NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 793 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ATCTCCTAATGGAATTCTTCT 0.328000 T TRD@ ALL 33 52 0 0 0.000228196 0 0 FAM83B 222584 broad.mit.edu 37 6 54735455 54735455 + Missense_Mutation SNP A A T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:54735455A>T ENST00000306858.7 + 2 527 c.411A>T c.(409-411)gaA>gaT p.E137D NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 137 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) CGATAAAAGAAACTATTCGGA 0.363000 16 35 0 0 0.000566183 0 0 CDKN3 1033 broad.mit.edu 37 14 54884627 54884627 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr14:54884627C>T ENST00000556102.2 + 7 576 c.510C>T c.(508-510)agC>agT p.S170S CDKN3_ENST00000543789.2_3'UTR|CDKN3_ENST00000556305.1_3'UTR|CDKN3_ENST00000442975.2_Silent_p.S130S|CDKN3_ENST00000395577.2_Silent_p.S124S|CDKN3_ENST00000335183.6_Silent_p.S170S|CDKN3_ENST00000458126.2_Silent_p.S169S Q16667 CDKN3_HUMAN cyclin-dependent kinase inhibitor 3 170 cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity perinuclear region of cytoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(2)|stomach(1) 3 CCATAGACAGCCTGCGAGACC 0.453000 8 4 0 0 0.000157383 0 0 MAGI1 9223 broad.mit.edu 37 3 65361455 65361455 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:65361455C>T ENST00000330909.8 - 19 3244 c.3245G>A c.(3244-3246)gGa>gAa p.G1082E MAGI1_ENST00000402939.2_Missense_Mutation_p.G1054E|MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000483466.1_Missense_Mutation_p.G1083E NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1083 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) AACTGTGTTTCCCGCTTCCTT 0.448000 149 79 0 0 0.000147903 0 0 SLC9A4 389015 broad.mit.edu 37 2 103136335 103136335 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:103136335G>A ENST00000295269.4 + 9 2196 c.1739G>A c.(1738-1740)gGa>gAa p.G580E NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 580 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 AGGATACAAGGAATCAAAAGA 0.453000 17 22 0 0 0.000175454 0 0 PPP1R3B 79660 broad.mit.edu 37 8 8998818 8998818 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr8:8998818G>A ENST00000310455.3 - 2 494 c.344C>T c.(343-345)tCc>tTc p.S115F PPP1R3B_ENST00000519699.1_Missense_Mutation_p.S115F NM_001201329.1|NM_024607.3 NP_001188258.1|NP_078883.2 Q86XI6 PPR3B_HUMAN protein phosphatase 1, regulatory subunit 3B 115 glycogen metabolic process endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 12 COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241) AGAGGGCTGGGAAAAATCCAG 0.498000 41 46 0 0 0.000228196 0 0 NTS 4922 broad.mit.edu 37 12 86276090 86276090 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:86276090G>A ENST00000256010.6 + 4 557 c.450G>A c.(448-450)cgG>cgA p.R150R NTS_ENST00000551529.1_Silent_p.R75R NM_006183.4 NP_006174.1 P30990 NEUT_HUMAN neurotensin 150 regulation of blood vessel size|signal transduction extracellular region|soluble fraction|transport vesicle neuropeptide hormone activity large_intestine(2)|lung(6) 8 TTCTGAAACGGCAGCTGTATG 0.323000 69 90 0 0 0.000147903 0 0 MYH14 79784 broad.mit.edu 37 19 50781504 50781504 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:50781504G>A ENST00000440075.2 + 30 4037 c.3990G>A c.(3988-3990)gaG>gaA p.E1330E MYH14_ENST00000376970.2_Silent_p.E1322E|MYH14_ENST00000262269.8_Silent_p.E1330E|MYH14_ENST00000425460.1_Silent_p.E1297E|MYH14_ENST00000601313.1_Silent_p.E1330E|MYH14_ENST00000598205.1_Silent_p.E1297E|MYH14_ENST00000596571.1_Silent_p.E1289E Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 1289 axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.E1289D(1) central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GTGATGGGGAGAGGGCACGAG 0.657000 4 5 0 0 0.00024832 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217787 150217787 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:150217787C>T ENST00000313543.4 + 2 882 c.725C>T c.(724-726)tCa>tTa p.S242L NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 242 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAGCATAAATCAGAGGAAGAA 0.284000 35 13 0 0 0.000491102 0 0 PARP12 64761 broad.mit.edu 37 7 139724492 139724492 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:139724492G>A ENST00000263549.3 - 12 2847 c.1974C>T c.(1972-1974)ccC>ccT p.P658P NM_022750.2 NP_073587.1 Q9H0J9 PAR12_HUMAN poly (ADP-ribose) polymerase family, member 12 658 PARP catalytic. nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) CAAAGATGGAGGGGTCGGACA 0.577000 92 26 0 0 0.000147903 0 0 NLN 57486 broad.mit.edu 37 5 65108166 65108166 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:65108166C>T ENST00000380985.5 + 12 2106 c.1928C>T c.(1927-1929)tCc>tTc p.S643F NLN_ENST00000502464.1_Missense_Mutation_p.S539F NM_020726.4 NP_065777.1 Q9BYT8 NEUL_HUMAN neurolysin (metallopeptidase M3 family) 643 proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) GAAGTATTTTCCATGGATATG 0.348000 23 33 0 0 0.000375601 0 0 IPO13 9670 broad.mit.edu 37 1 44423214 44423214 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:44423214C>T ENST00000372343.3 + 7 2195 c.1533C>T c.(1531-1533)ttC>ttT p.F511F IPO13_ENST00000492152.1_3'UTR NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 511 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) CTGTCATGTTCACCATTGGTG 0.552000 33 28 0 0 0.00058488 0 0 WDR76 79968 broad.mit.edu 37 15 44120337 44120337 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr15:44120337G>A ENST00000263795.6 + 2 305 c.235G>A c.(235-237)Gtg>Atg p.V79M WDR76_ENST00000381246.2_Missense_Mutation_p.V15M NM_001167941.1|NM_024908.3 NP_001161413.1|NP_079184.2 Q9H967 WDR76_HUMAN WD repeat domain 76 79 breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2) 20 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07) TAACAATGAAGTGGCGTGTAA 0.398000 37 57 0 0 0.00058488 0 0 MAPK4 5596 broad.mit.edu 37 18 48252484 48252484 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr18:48252484G>A ENST00000400384.2 + 5 2042 c.1006G>A c.(1006-1008)Gac>Aac p.D336N MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Missense_Mutation_p.D125N NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 336 cell cycle ATP binding|MAP kinase activity p.D336N(1) lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) TGAGATCGACGACATCGTGCT 0.602000 19 30 0 0 0.000132079 0 0 FBXO24 26261 broad.mit.edu 37 7 100192071 100192071 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:100192071G>A ENST00000241071.6 + 6 1181 c.859G>A c.(859-861)Gtt>Att p.V287I FBXO24_ENST00000468962.1_Missense_Mutation_p.V275I|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.V325I|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.V273I|FBXO24_ENST00000360609.2_Missense_Mutation_p.V273I NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 287 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CTCCTACACGGTTCAGCTGGC 0.572000 24 12 0 0 0.000117367 0 0 DNAH2 146754 broad.mit.edu 37 17 7697672 7697672 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr17:7697672C>T ENST00000572933.1 + 49 9130 c.7670C>T c.(7669-7671)cCc>cTc p.P2557L DNAH2_ENST00000389173.2_Missense_Mutation_p.P2557L Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2557 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) ATGACCTTCCCCACAGTGAGG 0.612000 15 5 0 0 0.000219431 0 0 CACNA1E 777 broad.mit.edu 37 1 181732607 181732607 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:181732607G>A ENST00000526775.1 + 33 4863 c.4698G>A c.(4696-4698)aaG>aaA p.K1566K CACNA1E_ENST00000367567.4_Silent_p.K1192K|CACNA1E_ENST00000358338.5_Silent_p.K1517K|CACNA1E_ENST00000357570.5_Silent_p.K1536K|CACNA1E_ENST00000367570.1_Silent_p.K1585K|CACNA1E_ENST00000360108.3_Silent_p.K1566K|CACNA1E_ENST00000367573.2_Silent_p.K1585K NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1585 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 GCCTCATAAAGCTCCTGCGTC 0.473000 24 25 0 0 0.00047179 0 0 HAS1 3036 broad.mit.edu 37 19 52217350 52217350 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:52217350G>A ENST00000540069.2 - 5 1124 c.1064C>T c.(1063-1065)aCc>aTc p.T355I HAS1_ENST00000601714.1_Missense_Mutation_p.T363I|HAS1_ENST00000222115.1_Missense_Mutation_p.T356I|HAS1_ENST00000594621.1_Silent_p.H185H Q92839 HAS1_HUMAN hyaluronan synthase 1 356 cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) GGACCTGGAGGTGTACCTGCA 0.637000 8 7 0 0 3.86212e-05 0 0 COL28A1 340267 broad.mit.edu 37 7 7516792 7516792 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:7516792C>T ENST00000399429.3 - 14 1324 c.1184G>A c.(1183-1185)gGa>gAa p.G395E NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 395 Collagen-like 3. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TCCTGGTACTCCCTCAGGACC 0.498000 27 36 0 0 0.000227799 0 0 SELE 6401 broad.mit.edu 37 1 169698386 169698386 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:169698386G>A ENST00000333360.7 - 7 1170 c.1031C>T c.(1030-1032)cCa>cTa p.P344L SELE_ENST00000367776.1_Missense_Mutation_p.P344L|SELE_ENST00000367774.1_Missense_Mutation_p.P344L|SELE_ENST00000367782.4_Missense_Mutation_p.P344L|SELE_ENST00000367777.1_Missense_Mutation_p.P344L|SELE_ENST00000367781.4_Missense_Mutation_p.P344L|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.P282L|SELE_ENST00000367775.1_Missense_Mutation_p.P282L|SELE_ENST00000367779.4_Missense_Mutation_p.P344L NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 344 Sushi 3. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) AACCTGGGCTGGTCCCTGCAA 0.488000 16 41 0 0 0.000566183 0 0 FGD5 152273 broad.mit.edu 37 3 14861656 14861656 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:14861656G>A ENST00000285046.5 + 1 1188 c.1078G>A c.(1078-1080)Gag>Aag p.E360K FGD5_ENST00000543601.1_Missense_Mutation_p.E119K NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 360 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 TTTTTGCAGCGAGAGCTGTTC 0.527000 25 33 0 0 0.000117367 0 0 OBP2B 29989 broad.mit.edu 37 9 136082650 136082650 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr9:136082650C>T ENST00000372032.2 - 4 260 c.217G>A c.(217-219)Gca>Aca p.A73T OBP2B_ENST00000372034.3_Silent_p.Q117Q|OBP2B_ENST00000461961.1_5'UTR Q9NPH6 OBP2B_HUMAN odorant binding protein 2B 0 chemosensory behavior|sensory perception of smell extracellular region odorant binding|transporter activity central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05) CCCCATGGTGCTGGTCTTTGC 0.587000 16 4 0 0 0.000566183 0 0 C1orf127 148345 broad.mit.edu 37 1 11008296 11008296 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:11008296G>A ENST00000377004.4 - 12 1895 c.1896C>T c.(1894-1896)ctC>ctT p.L632L C1orf127_ENST00000377008.4_Silent_p.L465L NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 483 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) CCTCCCTGGGGAGACCAGGCC 0.647000 31 57 0 0 0.000491102 0 0 TRIM24 8805 broad.mit.edu 37 7 138239559 138239559 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:138239559C>T ENST00000343526.4 + 9 1593 c.1378C>T c.(1378-1380)Cca>Tca p.P460S TRIM24_ENST00000415680.2_Missense_Mutation_p.P460S|TRIM24_ENST00000497516.1_3'UTR O15164 TIF1A_HUMAN tripartite motif containing 24 460 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 ATCCAAGTTCCCAACACAGAT 0.498000 7 99 0 0 8.12818e-05 0 0 LENG8 114823 broad.mit.edu 37 19 54966176 54966176 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:54966176C>T ENST00000326764.5 + 7 1205 c.726C>T c.(724-726)ccC>ccT p.P242P LENG8_ENST00000376514.2_Intron NM_052925.2 NP_443157.1 Q96PV6 LENG8_HUMAN leukocyte receptor cluster (LRC) member 8 205 R -> P (in dbSNP:rs35061854). protein binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) AGAAGCGACCCTTTGCTGTTA 0.597000 11 20 0 0 6.40141e-05 0 0 FAP 2191 broad.mit.edu 37 2 163039979 163039979 + Splice_Site SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:163039979C>T ENST00000188790.4 - 21 2022 c.e21-1 FAP_ENST00000443424.1_Splice_Site NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 TATGAATTTTCTAAAGTAAAA 0.284000 17 19 0 0 7.07596e-05 0 0 TLL1 7092 broad.mit.edu 37 4 166996085 166996085 + Silent SNP G G A rs115884871 byFrequency TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr4:166996085G>A ENST00000061240.2 + 17 2891 c.2244G>A c.(2242-2244)acG>acA p.T748T TLL1_ENST00000507499.1_Silent_p.T771T NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 748 EGF-like 2; calcium-binding (Potential). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GTGTCAACACGATGGGGAGCT 0.383000 26 35 0 0 0.00047179 0 0 NACA 4666 broad.mit.edu 37 12 57109777 57109777 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:57109777G>A ENST00000454682.1 - 3 5818 c.5537C>T c.(5536-5538)cCg>cTg p.P1846L NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.P693L|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GATTGGTTCCGGGGGAATCAG 0.572000 T BCL6 NHL 4 51 0 0 0.00024832 0 0 NARS2 79731 broad.mit.edu 37 11 78147746 78147746 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:78147746G>A ENST00000281038.5 - 14 1779 c.1404C>T c.(1402-1404)ttC>ttT p.F468F NARS2_ENST00000528850.1_Silent_p.F241F|RP11-452H21.1_ENST00000534168.1_RNA NM_001243251.1|NM_024678.5 NP_001230180.1|NP_078954.4 Q96I59 SYNM_HUMAN asparaginyl-tRNA synthetase 2, mitochondrial (putative) 468 asparaginyl-tRNA aminoacylation mitochondrial matrix asparagine-tRNA ligase activity|ATP binding|nucleic acid binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1) 27 all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19) L-Asparagine(DB00174) GAAACCTTGGGAAAGGGATAA 0.458000 108 131 0 0 0.000147903 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42292362 42292362 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr15:42292362G>A ENST00000399518.3 - 8 1278 c.792C>T c.(790-792)taC>taT p.Y264Y PLA2G4E_ENST00000413860.2_Silent_p.Y235Y NM_001206670.1 NP_001193599.1 Q3MJ16 PA24E_HUMAN phospholipase A2, group IVE 257 phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) AGTACTTGGGGTAGTGGAAGC 0.612000 4 6 0 0 1.23904e-05 0 0 SPAG5 10615 broad.mit.edu 37 17 26919504 26919504 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr17:26919504G>A ENST00000321765.5 - 3 1090 c.758C>T c.(757-759)gCc>gTc p.A253V NM_006461.3 NP_006452.3 Q96R06 SPAG5_HUMAN sperm associated antigen 5 253 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) TGCTGCCAAGGCAGTTGAAGG 0.498000 23 42 0 0 0.000295444 0 0 ASTN2 23245 broad.mit.edu 37 9 119903672 119903672 + Silent SNP G G A rs140458736 by1000genomes TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr9:119903672G>A ENST00000313400.4 - 4 1201 c.1101C>T c.(1099-1101)atC>atT p.I367I ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Silent_p.I367I|ASTN2_ENST00000361209.2_Intron O75129 ASTN2_HUMAN astrotactin 2 367 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GCAGCTGACCGATCTCGATGG 0.587000 17 4 0 0 0.000566183 0 0 FRY 10129 broad.mit.edu 37 13 32745229 32745229 + Nonsense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr13:32745229G>A ENST00000380250.3 + 18 2469 c.1973G>A c.(1972-1974)tGg>tAg p.W658* NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 658 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TTCTCAGATTGGAGGGAAGAT 0.418000 37 65 0 0 0.000132358 0 0 INHBB 3625 broad.mit.edu 37 2 121106908 121106908 + Missense_Mutation SNP A A T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:121106908A>T ENST00000295228.3 + 2 728 c.682A>T c.(682-684)Acc>Tcc p.T228S NM_002193.2 NP_002184.2 P09529 INHBB_HUMAN inhibin, beta B 228 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2) 15 Prostate(154;0.122) CGGCTGGCATACCTTCCCACT 0.632000 57 80 0 0 0.000147903 0 0 CELSR1 9620 broad.mit.edu 37 22 46760441 46760441 + Missense_Mutation SNP A A G TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr22:46760441A>G ENST00000262738.3 - 33 8746 c.8747T>C c.(8746-8748)cTt>cCt p.L2916P NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2916 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GCTGCTAGCAAGCCTGGCTGC 0.682000 12 43 0 0 0.000151284 0 0 FAM161B 145483 broad.mit.edu 37 14 74411480 74411480 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr14:74411480G>A ENST00000286544.3 - 3 870 c.672C>T c.(670-672)agC>agT p.S224S FAM161B_ENST00000534936.1_Silent_p.S161S NM_152445.2 NP_689658.2 family with sequence similarity 161, member B breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2) 21 AGGAGCTGACGCTTCTGTGCT 0.652000 15 15 0 0 0.000308642 0 0 KMT2C 58508 broad.mit.edu 37 7 151900066 151900066 + Nonsense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:151900066G>A ENST00000355193.2 - 26 4263 c.4045C>T c.(4045-4047)Cga>Tga p.R1349* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.R1349* lysine (K)-specific methyltransferase 2C TTCCTTTTTCGGTATCTCTTC 0.318000 9 34 0 0 0.000274275 0 0 UGT2B11 10720 broad.mit.edu 37 4 70079874 70079874 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr4:70079874G>A ENST00000446444.1 - 1 575 c.567C>T c.(565-567)ttC>ttT p.F189F RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 189 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 AGGAAGGAGGGAAAATCAGTC 0.403000 9 3 0 0 0.000442599 0 0 LAMB3 3914 broad.mit.edu 37 1 209796360 209796360 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:209796360G>A ENST00000391911.1 - 16 2912 c.2523C>T c.(2521-2523)ggC>ggT p.G841G LAMB3_ENST00000367030.3_Silent_p.G841G|LAMB3_ENST00000356082.4_Silent_p.G841G NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 841 Domain I. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GGGCATTGAAGCCCCGCAGCT 0.667000 55 60 0 0 0.000147903 0 0 XKR4 114786 broad.mit.edu 37 8 56436522 56436522 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr8:56436522C>T ENST00000327381.5 + 3 1789 c.1689C>T c.(1687-1689)ttC>ttT p.F563F NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 563 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) ATCAGAAATTCGCAGAGCGGG 0.567000 25 15 0 0 0.00047179 0 0 ABCC9 10060 broad.mit.edu 37 12 21964988 21964988 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:21964988G>A ENST00000261200.4 - 34 4205 c.4206C>T c.(4204-4206)tcC>tcT p.S1402S ABCC9_ENST00000345162.2_Silent_p.S1366S|ABCC9_ENST00000261201.4_Silent_p.S1402S NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1402 ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CCTACCTAATGGAACCACTGA 0.373000 12 23 0 0 0.00010058 0 0 PAPPA2 60676 broad.mit.edu 37 1 176659394 176659394 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:176659394C>T ENST00000367662.3 + 5 3423 c.2259C>T c.(2257-2259)tcC>tcT p.S753S PAPPA2_ENST00000367661.3_Silent_p.S753S NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 753 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AAAGAGAATCCTGCAATGACC 0.547000 38 44 0 0 0.000270559 0 0 MYH9 4627 broad.mit.edu 37 22 36700073 36700073 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr22:36700073G>A ENST00000216181.5 - 19 2588 c.2358C>T c.(2356-2358)ttC>ttT p.F786F NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 786 IQ. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 AGCAGGCCTGGAACCCTATGA 0.622000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 19 28 0 0 0.000375601 0 0 MYO18B 84700 broad.mit.edu 37 22 26423017 26423017 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr22:26423017G>A ENST00000335473.7 + 43 7327 c.7077G>A c.(7075-7077)ccG>ccA p.P2359P MYO18B_ENST00000536101.1_Silent_p.P2359P|MYO18B_ENST00000407587.2_Silent_p.P2360P NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2359 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 AATCCAGACCGAGCATGGGGA 0.567000 27 59 0 0 0.000279167 0 0 KHNYN 23351 broad.mit.edu 37 14 24901147 24901147 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr14:24901147C>T ENST00000251343.5 + 3 819 c.680C>T c.(679-681)cCc>cTc p.P227L KHNYN_ENST00000556842.1_Missense_Mutation_p.P227L|KHNYN_ENST00000553935.1_Missense_Mutation_p.P227L O15037 KHNYN_HUMAN KH and NYN domain containing 227 kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3) 24 GTGAGAGCTCCCCCTAGTGAC 0.642000 OREG0022627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 47 45 0 0 0.000147903 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12884979 12884979 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:12884979C>T ENST00000535591.1 - 4 1327 c.1132G>A c.(1132-1134)Gaa>Aaa p.E378K NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 378 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 CCATAACTTTCCTGCGGGGCA 0.502000 127 151 0 0 0.000147903 0 0 CYP2B6 1555 broad.mit.edu 37 19 41518266 41518266 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:41518266G>A ENST00000324071.4 + 7 1035 c.1028G>A c.(1027-1029)cGa>cAa p.R343Q CYP2B6_ENST00000593831.1_Missense_Mutation_p.R107Q|CYP2B6_ENST00000330446.5_Missense_Mutation_p.R143Q NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 343 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) CTTCATGACCGAGCCAAAATG 0.483000 22 28 0 0 0.000375601 0 0 MACF1 23499 broad.mit.edu 37 1 39916822 39916822 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:39916822C>T ENST00000564288.1 + 85 21134 c.20357C>T c.(20356-20358)gCt>gTt p.A6786V MACF1_ENST00000317713.7_Missense_Mutation_p.A4727V|MACF1_ENST00000289893.4_Missense_Mutation_p.A5229V|MACF1_ENST00000361689.2_Missense_Mutation_p.A4727V|MACF1_ENST00000545844.1_Missense_Mutation_p.A4727V|MACF1_ENST00000372915.3_Missense_Mutation_p.A6685V|MACF1_ENST00000539005.1_Missense_Mutation_p.A4597V|MACF1_ENST00000567887.1_Missense_Mutation_p.A6823V Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6793 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCACAGCTGGCTGAGGACCAG 0.562000 48 45 0 0 0.000147903 0 0 NGLY1 55768 broad.mit.edu 37 3 25777523 25777523 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:25777523G>A ENST00000280700.5 - 7 1281 c.1121C>T c.(1120-1122)tCc>tTc p.S374F NGLY1_ENST00000396649.3_Missense_Mutation_p.S374F|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000428257.1_Intron|NGLY1_ENST00000417874.2_Missense_Mutation_p.S332F NM_018297.3 NP_060767.2 Q96IV0 NGLY1_HUMAN N-glycanase 1 374 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 TATGACATAGGAAAGCTTCTT 0.368000 21 23 0 0 0.00047179 0 0 DSCAM 1826 broad.mit.edu 37 21 41385160 41385160 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr21:41385160G>A ENST00000400454.1 - 33 6317 c.5840C>T c.(5839-5841)cCg>cTg p.P1947L NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1947 HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). 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) GGCTTCCATCGGGATGGGCTC 0.657000 19 27 0 0 9.7654e-05 0 0 CAPSL 133690 broad.mit.edu 37 5 35910027 35910027 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:35910027C>T ENST00000397367.2 - 4 592 c.466G>A c.(466-468)Gaa>Aaa p.E156K CAPSL_ENST00000514524.1_Missense_Mutation_p.E156K|CAPSL_ENST00000397366.1_Missense_Mutation_p.E156K NM_144647.3 NP_653248.3 Q8WWF8 CAPSL_HUMAN calcyphosine-like 156 EF-hand 4. cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) AATACTTGTTCCTCACTCCAT 0.378000 55 79 0 0 0.000147903 0 0 TRPC6 7225 broad.mit.edu 37 11 101375406 101375406 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:101375406C>T ENST00000344327.3 - 2 718 c.294G>A c.(292-294)gaG>gaA p.E98E TRPC6_ENST00000532133.1_Silent_p.E98E|TRPC6_ENST00000348423.4_Silent_p.E98E|TRPC6_ENST00000360497.4_Silent_p.E98E NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 98 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) AGCGTTCCTCCTCTATAGATA 0.483000 28 39 0 0 9.22233e-05 0 0 EPHB4 2050 broad.mit.edu 37 7 100403198 100403198 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:100403198G>A ENST00000358173.3 - 15 3071 c.2603C>T c.(2602-2604)cCc>cTc p.P868L EPHB4_ENST00000360620.3_Missense_Mutation_p.P868L NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 868 Protein kinase. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) GACCACCTGGGGGAAGCGGGG 0.662000 12 75 0 0 0.000151284 0 0 MYH1 4619 broad.mit.edu 37 17 10399767 10399767 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr17:10399767C>T ENST00000226207.5 - 34 4850 c.4756G>A c.(4756-4758)Gaa>Aaa p.E1586K CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1586 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TGGTCAATTTCCTCATCTTTT 0.453000 61 13 0 0 0.000147903 0 0 CSHL1 1444 broad.mit.edu 37 17 61987461 61987461 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr17:61987461C>T ENST00000450719.3 - 3 487 c.250G>A c.(250-252)Gag>Aag p.E84K CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Missense_Mutation_p.E95K|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000346606.6_Intron Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 0 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 CAGTGTTTCTCTCCCCCAGCC 0.562000 28 77 0 0 0.000184323 0 0 ATG10 83734 broad.mit.edu 37 5 81549195 81549195 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:81549195C>T ENST00000282185.3 + 7 908 c.614C>T c.(613-615)cCt>cTt p.P205L ATG10_ENST00000458350.3_Missense_Mutation_p.P205L|ATG10_ENST00000514253.2_Intron NM_031482.4 NP_113670.1 Q9H0Y0 ATG10_HUMAN autophagy related 10 205 autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport cytoplasm Atg12 ligase activity|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2) 9 Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30) CTGAATCTACCTCTGAGTTAT 0.413000 48 67 0 0 0.000147903 0 0 KIF20B 9585 broad.mit.edu 37 10 91484826 91484826 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr10:91484826C>T ENST00000416354.1 + 15 1984 c.1912C>T c.(1912-1914)Cgt>Tgt p.R638C KIF20B_ENST00000260753.4_Missense_Mutation_p.R638C|KIF20B_ENST00000371728.3_Missense_Mutation_p.R638C|KIF20B_ENST00000394289.2_Missense_Mutation_p.R638C|KIF20B_ENST00000478929.1_3'UTR Q96Q89 KI20B_HUMAN kinesin family member 20B 638 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 TGCTGAACGTCGTTTGGCTAT 0.363000 35 36 0 0 0.000270559 0 0 THEMIS 387357 broad.mit.edu 37 6 128134390 128134390 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:128134390G>A ENST00000368250.1 - 5 1657 c.1159C>T c.(1159-1161)Ctt>Ttt p.L387F THEMIS_ENST00000368248.2_Missense_Mutation_p.L466F|THEMIS_ENST00000543064.1_Missense_Mutation_p.L466F|THEMIS_ENST00000537166.1_Missense_Mutation_p.L431F Q8N1K5 THMS1_HUMAN thymocyte selection associated 466 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 TCAATGGAAAGATCCCTGACA 0.468000 17 22 0 0 0.000422831 0 0 MUC4 4585 broad.mit.edu 37 3 195516204 195516204 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:195516204C>T ENST00000463781.3 - 2 2706 c.2247G>A c.(2245-2247)ggG>ggA p.G749G MUC4_ENST00000475231.1_Silent_p.G749G|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 754 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CTTCTGGGCCCCCTGGTGTTG 0.602000 47 54 0 0 0.000147903 0 0 B4GALNT3 283358 broad.mit.edu 37 12 667718 667718 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:667718C>T ENST00000266383.5 + 18 2665 c.2652C>T c.(2650-2652)ttC>ttT p.F884F NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 884 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) ACATCCACTTCCCAGCTGGAG 0.597000 46 36 0 0 0.000147903 0 0 IL22RA1 58985 broad.mit.edu 37 1 24447457 24447457 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:24447457G>A ENST00000270800.1 - 7 1601 c.1563C>T c.(1561-1563)tcC>tcT p.S521S NM_021258.3 NP_067081.2 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 521 integral to membrane interferon receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) GGTCCGAGGGGGAACATGGAC 0.627000 16 27 0 0 0.000422831 0 0 DICER1 23405 broad.mit.edu 37 14 95582790 95582790 + Splice_Site SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr14:95582790C>T ENST00000526495.1 - 12 2043 c.1752_splice c.e12+1 p.K584_splice DICER1_ENST00000343455.3_Splice_Site_p.K584_splice|DICER1_ENST00000393063.1_Splice_Site_p.K584_splice|DICER1_ENST00000527414.1_Splice_Site_p.K584_splice|DICER1_ENST00000541352.1_Splice_Site_p.K584_splice Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 584 Helicase C-terminal.|Required for interaction with PRKRA and TARBP2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TTGATCTTACCTTTTCAATAG 0.328000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 49 64 0 0 0.000147903 0 0 SDPR 8436 broad.mit.edu 37 2 192701226 192701226 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:192701226G>A ENST00000304141.4 - 2 1030 c.701C>T c.(700-702)tCc>tTc p.S234F NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 234 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) CTTCAGGCTGGATCTTTTTAT 0.473000 77 83 0 0 0.000147903 0 0 SHANK2 22941 broad.mit.edu 37 11 70332561 70332561 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:70332561C>T ENST00000338508.4 - 32 3839 c.3840G>A c.(3838-3840)gaG>gaA p.E1280E SHANK2_ENST00000423696.2_Silent_p.E900E|SHANK2_ENST00000409161.1_Silent_p.E683E|SHANK2_ENST00000449833.2_Silent_p.E684E Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 900 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CGTACTTGTTCTCCGTCTCCT 0.597000 30 41 0 0 0.000339439 0 0 VWA3B 200403 broad.mit.edu 37 2 98779420 98779420 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:98779420C>T ENST00000477737.1 + 8 1299 c.1095C>T c.(1093-1095)gaC>gaT p.D365D VWA3B_ENST00000451075.2_Silent_p.D215D|VWA3B_ENST00000435344.1_Silent_p.D365D NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 365 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CCAAGCCCGACGTGGCCACTG 0.567000 37 54 0 0 0.000147903 0 0 KIF19 124602 broad.mit.edu 37 17 72340934 72340934 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr17:72340934G>A ENST00000389916.4 + 7 755 c.617G>A c.(616-618)aGg>aAg p.R206K NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 206 Kinesin-motor. 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 AACCGGCAGAGGACCCAGGAG 0.667000 30 67 0 0 0.00058488 0 0 CCDC88C 440193 broad.mit.edu 37 14 91770235 91770235 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr14:91770235C>T ENST00000389857.6 - 20 3531 c.3445G>A c.(3445-3447)Gag>Aag p.E1149K NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 1149 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) CTTTCGTTCTCCGTCTCCTTG 0.647000 27 31 0 0 0.000227799 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269319 150269319 + Missense_Mutation SNP A A T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:150269319A>T ENST00000255945.2 + 3 336 c.161A>T c.(160-162)aAa>aTa p.K54I GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.K68I NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 54 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTTGGCCGGAAAGTGTTTCAT 0.468000 19 12 0 0 0.000132079 0 0 SUCO 51430 broad.mit.edu 37 1 172501615 172501615 + Translation_Start_Site SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:172501615G>A ENST00000367723.3 + 1 127 c.3G>A c.(1-3)atG>atA p.M1I NM_016227.2 NP_057311.2 SUN domain containing ossification factor CCAATCAGATGAGAGGATTCT 0.498000 7 12 0 0 8.12818e-05 0 0 PTPRT 11122 broad.mit.edu 37 20 40944419 40944419 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr20:40944419G>A ENST00000373198.3 - 12 2318 c.2083C>T c.(2083-2085)Ctc>Ttc p.L695F PTPRT_ENST00000373201.1_Missense_Mutation_p.L695F|PTPRT_ENST00000373193.3_Missense_Mutation_p.L695F|PTPRT_ENST00000373187.1_Missense_Mutation_p.L695F|PTPRT_ENST00000373190.1_Missense_Mutation_p.L695F|PTPRT_ENST00000356100.2_Missense_Mutation_p.L695F|PTPRT_ENST00000373184.1_Missense_Mutation_p.L695F NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 695 Fibronectin type-III 4. 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) AGGGGAGAGAGAGGAGGGTTC 0.498000 35 35 0 0 0.000132358 0 0 CUBN 8029 broad.mit.edu 37 10 16960672 16960672 + Nonsense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr10:16960672G>A ENST00000377833.4 - 45 7014 c.6949C>T c.(6949-6951)Cga>Tga p.R2317* NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2317 CUB 16. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTGTCAGATCGAAATCTCAAA 0.413000 16 31 0 0 9.7654e-05 0 0 PTPRT 11122 broad.mit.edu 37 20 41306677 41306677 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr20:41306677G>A ENST00000373198.3 - 7 1217 c.982C>T c.(982-984)Cgc>Tgc p.R328C PTPRT_ENST00000373201.1_Missense_Mutation_p.R328C|PTPRT_ENST00000373193.3_Missense_Mutation_p.R328C|PTPRT_ENST00000373187.1_Missense_Mutation_p.R328C|PTPRT_ENST00000373190.1_Missense_Mutation_p.R328C|PTPRT_ENST00000356100.2_Missense_Mutation_p.R328C|PTPRT_ENST00000373184.1_Missense_Mutation_p.R328C NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 328 Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.R328C(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GTGGTGGTGCGATATTCCACT 0.562000 34 47 0 0 0.000109025 0 0 IGHV3-73 28409 broad.mit.edu 37 14 107211377 107211377 + RNA SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr14:107211377C>T ENST00000390636.2 - 0 94 AAACCCAGCTCAGCCCAAACT 0.517000 55 65 0 0 0.000147903 0 0 PLGLA 285189 broad.mit.edu 37 2 107007371 107007371 + RNA SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:107007371C>T ENST00000484422.1 + 0 220 GTGTATCTTTCAGAGTGCAAG 0.453000 10 10 0 0 0.00010058 0 0 DOCK1 1793 broad.mit.edu 37 10 129237336 129237336 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr10:129237336C>T ENST00000280333.6 + 49 5152 c.5043C>T c.(5041-5043)tcC>tcT p.S1681S NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1681 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) ACTCCAGGTCCCAGGACAAGC 0.448000 3 1 0 0 6.4e-05 0 0 AGBL1 123624 broad.mit.edu 37 15 86807930 86807930 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr15:86807930G>A ENST00000441037.2 + 10 1485 c.1390G>A c.(1390-1392)Gat>Aat p.D464N AGBL1_ENST00000421325.2_Missense_Mutation_p.D464N|AGBL1_ENST00000389298.3_Missense_Mutation_p.D195N NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 464 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 CCCTTTCCACGATCCCTATCT 0.473000 56 73 0 0 0.000147903 0 0 RUNX2 860 broad.mit.edu 37 6 45459784 45459784 + Silent SNP G G A rs12173874 TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:45459784G>A ENST00000371438.1 + 5 1150 c.792G>A c.(790-792)caG>caA p.Q264Q RUNX2_ENST00000371432.3_Silent_p.Q250Q|RUNX2_ENST00000371436.6_Silent_p.Q264Q|RUNX2_ENST00000352853.5_Silent_p.Q332Q|RUNX2_ENST00000465038.2_Silent_p.Q264Q|RUNX2_ENST00000576263.1_Silent_p.Q264Q|RUNX2_ENST00000541979.1_Silent_p.Q332Q|RUNX2_ENST00000359524.5_Silent_p.Q250Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 264 Pro/Ser/Thr-rich. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 TCCCGCCTCAGAACCCACGGC 0.488000 64 36 0 0 0.000147903 0 0 SPTA1 6708 broad.mit.edu 37 1 158654952 158654952 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:158654952C>T ENST00000368148.3 - 2 390 c.210G>A c.(208-210)atG>atA p.M70I SPTA1_ENST00000368147.3_Missense_Mutation_p.M70I NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 70 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TGACTTTCTCCATGATCCACT 0.453000 9 6 0 0 0.000274275 0 0 OR4A16 81327 broad.mit.edu 37 11 55111634 55111634 + Missense_Mutation SNP C C T rs78935813 TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:55111634C>T ENST00000314721.2 + 1 1008 c.958C>T c.(958-960)Cct>Tct p.P320S NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 320 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 CATATTTATTCCTAGTTCTAA 0.348000 4 7 0 0 3.59834e-05 0 0 ATP6V0A2 23545 broad.mit.edu 37 12 124228431 124228431 + Nonsense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:124228431C>T ENST00000330342.3 + 10 1386 c.1138C>T c.(1138-1140)Cag>Tag p.Q380* NM_012463.3 NP_036595.2 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a2 380 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) CGAGGGATTTCAGAACATCGT 0.458000 48 65 0 0 0.000147903 0 0 ABCB1 5243 broad.mit.edu 37 7 87180059 87180059 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:87180059G>A ENST00000265724.3 - 11 1512 c.1095C>T c.(1093-1095)atC>atT p.I365I ABCB1_ENST00000543898.1_Silent_p.I301I NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 365 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) TTATCTTGAAGATTTCATAAG 0.378000 23 11 0 0 0.000295444 0 0 ABCC11 85320 broad.mit.edu 37 16 48234320 48234320 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr16:48234320G>A ENST00000394747.1 - 14 2298 c.1949C>T c.(1948-1950)tCc>tTc p.S650F ABCC11_ENST00000394748.1_Missense_Mutation_p.S650F|ABCC11_ENST00000356608.2_Missense_Mutation_p.S650F|ABCC11_ENST00000353782.5_Missense_Mutation_p.S650F|ABCC11_ENST00000537808.1_Missense_Mutation_p.S650F NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 650 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CTGACGGTCGGAATAGACGGC 0.592000 13 22 0 0 0.000219431 0 0 CCNT1 904 broad.mit.edu 37 12 49087100 49087100 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:49087100G>A ENST00000261900.3 - 9 2119 c.1897C>T c.(1897-1899)Cgt>Tgt p.R633C NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 633 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding p.R633C(1) breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 TGAGGGACACGAGTTTTACAG 0.488000 21 31 0 0 0.000175454 0 0 CDH7 1005 broad.mit.edu 37 18 63511244 63511244 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr18:63511244G>A ENST00000536984.2 + 7 1872 c.1178G>A c.(1177-1179)gGg>gAg p.G393E CDH7_ENST00000323011.3_Missense_Mutation_p.G393E|CDH7_ENST00000397968.2_Missense_Mutation_p.G393E Q9ULB5 CADH7_HUMAN cadherin 7, type 2 393 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) ACCCAGGTTGGGAATATCATT 0.448000 20 43 0 0 0.000175454 0 0 CSMD2 114784 broad.mit.edu 37 1 34087804 34087804 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:34087804G>A ENST00000373381.4 - 37 5966 c.5790C>T c.(5788-5790)atC>atT p.I1930I CSMD2_ENST00000373380.1_Silent_p.I803I|CSMD2_ENST00000373388.2_Silent_p.I29I|CSMD2_ENST00000373377.1_Silent_p.I29I NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1890 Sushi 11. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CAGATACGCTGATATCTGAGT 0.517000 60 89 0 0 0.000147903 0 0 PSG8 440533 broad.mit.edu 37 19 43268142 43268142 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:43268142G>A ENST00000404209.4 - 2 452 c.356C>T c.(355-357)tCc>tTc p.S119F PSG8_ENST00000401467.2_Missense_Mutation_p.S119F|PSG8_ENST00000306511.4_Missense_Mutation_p.S119F|PSG8_ENST00000406636.3_Intron NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 119 Ig-like V-type. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) TAAGGTGTAGGATCCTGCGTC 0.443000 128 157 0 0 0.000147903 0 0 GPR37L1 9283 broad.mit.edu 37 1 202097202 202097202 + Missense_Mutation SNP A A C TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:202097202A>C ENST00000367282.4 + 2 1070 c.964A>C c.(964-966)Atc>Ctc p.I322L NM_004767.3 NP_004758.3 O60883 ETBR2_HUMAN G protein-coupled receptor 37 like 1 322 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 CTGCCTGCCCATCCTCTTCAC 0.607000 23 20 0 0 0.000117367 0 0 CSMD1 64478 broad.mit.edu 37 8 3047478 3047478 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr8:3047478G>A ENST00000602557.1 - 35 5912 c.5357C>T c.(5356-5358)cCc>cTc p.P1786L CSMD1_ENST00000539096.1_Missense_Mutation_p.P1785L|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000520002.1_Missense_Mutation_p.P1786L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1786L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1786L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1785L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1785L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1786 Sushi 10. 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) CAAGGCGTTGGGCACGGACTG 0.602000 4 1 0 0 1.23904e-05 0 0 USP43 124739 broad.mit.edu 37 17 9632019 9632019 + Silent SNP C C G TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr17:9632019C>G ENST00000570827.2 + 15 3225 c.2151C>G c.(2149-2151)ggC>ggG p.G717G USP43_ENST00000570475.1_Silent_p.G1023G|USP43_ENST00000285199.6_Silent_p.G1028G Q70EL4 UBP43_HUMAN ubiquitin specific peptidase 43 1028 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 TGGTGAGTGGCGGGCTGAGCC 0.672000 9 0 0 0 0.000442599 0 0 DISP2 85455 broad.mit.edu 37 15 40659729 40659729 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr15:40659729G>A ENST00000267889.3 + 8 1503 c.1416G>A c.(1414-1416)atG>atA p.M472I NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 472 SSD. smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) TCACTGGCATGGACCTGGGCC 0.622000 48 52 0 0 0.000147903 0 0 OR51B6 390058 broad.mit.edu 37 11 5372888 5372888 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:5372888C>T ENST00000380219.1 + 1 151 c.151C>T c.(151-153)Cat>Tat p.H51Y HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron NM_001004750.1 NP_001004750.1 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, member 6 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 21 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGGAATGATCATAACCTCCA 0.463000 26 33 0 0 0.000227799 0 0 PHF21B 112885 broad.mit.edu 37 22 45309868 45309868 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr22:45309868G>A ENST00000313237.5 - 5 815 c.665C>T c.(664-666)cCt>cTt p.P222L PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000403565.1_Intron NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 222 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) gaggggtgaaggggacagtga 0.647000 25 35 0 0 0.00047179 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38184340 38184340 + Missense_Mutation SNP C C A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr8:38184340C>A ENST00000317025.8 - 7 2133 c.1616G>T c.(1615-1617)gGg>gTg p.G539V WHSC1L1_ENST00000433384.2_Missense_Mutation_p.G539V|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.G539V|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.G539V NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 539 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) CCTGTCTTGCCCCCTGACACT 0.403000 T NUP98 AML 37 46 3.76114e-14 6.5165e-13 0.000132358 1 0 R3HDM1 23518 broad.mit.edu 37 2 136479545 136479545 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:136479545C>T ENST00000264160.4 + 24 3198 c.2828C>T c.(2827-2829)gCt>gTt p.A943V R3HDM1_ENST00000409606.1_Missense_Mutation_p.A944V|R3HDM1_ENST00000410054.1_Missense_Mutation_p.A888V|R3HDM1_ENST00000329971.3_Missense_Mutation_p.A814V|R3HDM1_ENST00000409478.1_Missense_Mutation_p.A815V NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 943 nucleic acid binding p.A943V(1) breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) AATCCTCCTGCTGTTCTGCAC 0.468000 28 41 0 0 0.000491102 0 0 CCDC30 728621 broad.mit.edu 37 1 43119503 43119503 + Missense_Mutation SNP G G A rs147050676 TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:43119503G>A ENST00000428554.2 + 23 3299 c.2156G>A c.(2155-2157)gGt>gAt p.G719D CCDC30_ENST00000390640.4_Missense_Mutation_p.G508D|CCDC30_ENST00000342022.4_Missense_Mutation_p.G719D|CCDC30_ENST00000340612.4_Missense_Mutation_p.G719D|CCDC30_ENST00000507855.1_Missense_Mutation_p.G508D Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 719 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 TCAGGAAAAGGTTTGGTAGAG 0.403000 23 20 0 0 9.22233e-05 0 0 SYT15 83849 broad.mit.edu 37 10 46967721 46967721 + Splice_Site SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr10:46967721C>T ENST00000374323.3 - 3 1102 c.514_splice c.e3-1 p.G172_splice SYT15_ENST00000503753.1_Splice_Site_p.G119_splice|SYT15_ENST00000374325.3_Splice_Site_p.G119_splice|SYT15_ENST00000374321.4_Splice_Site_p.G119_splice Q9BQS2 SYT15_HUMAN synaptotagmin XV 119 C2 1. integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 ACATGCATCTCCTATGACAGA 0.637000 26 114 0 0 0.000227799 0 0 GPR142 350383 broad.mit.edu 37 17 72367905 72367905 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr17:72367905C>T ENST00000335666.4 + 4 603 c.555C>T c.(553-555)gcC>gcT p.A185A NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 185 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 CGCGCCTTGCCACCAGGACCA 0.627000 19 38 0 0 0.000132079 0 0 SLC38A3 10991 broad.mit.edu 37 3 50255384 50255384 + RNA SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:50255384C>T ENST00000420502.1 + 0 1044 Q99624 S38A3_HUMAN solute carrier family 38, member 3 cellular nitrogen compound metabolic process|sodium ion transport integral to plasma membrane antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity breast(1)|cervix(1)|endometrium(1)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615) L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117) CCTTCGCCTTCGTCTGCCACC 0.617000 13 34 0 0 0.000308642 0 0 MAP2 4133 broad.mit.edu 37 2 210559009 210559009 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:210559009G>A ENST00000360351.4 + 7 2621 c.2115G>A c.(2113-2115)ccG>ccA p.P705P MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Silent_p.P701P NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 705 P -> L (in a colorectal cancer sample; somatic mutation). central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TCAATTTGCCGATGTCTTGCC 0.433000 43 47 0 0 0.000147903 0 0 RBL2 5934 broad.mit.edu 37 16 53487496 53487496 + Missense_Mutation SNP C C G TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr16:53487496C>G ENST00000262133.6 + 6 1036 c.899C>G c.(898-900)cCc>cGc p.P300R RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Missense_Mutation_p.P84R NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 300 cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TTCTGGAAACCCTATATTAGG 0.358000 173 170 0 0 0.000147903 0 0 TRPM2 7226 broad.mit.edu 37 21 45799003 45799003 + Nonsense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr21:45799003C>T ENST00000397928.1 + 8 1583 c.1138C>T c.(1138-1140)Cag>Tag p.Q380* TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Nonsense_Mutation_p.Q380*|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.Q380*|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.Q380* NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 380 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CTCCCTGATCCAGCAGAAACT 0.597000 37 42 0 0 0.000159656 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25161457 25161457 + RNA SNP G G A rs1851732 by1000genomes TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr13:25161457G>A ENST00000453498.1 + 0 981 TTATTTATTCGATTCGTGGTA 0.378000 5 32 0 0 8.12818e-05 0 0 LIFR 3977 broad.mit.edu 37 5 38527298 38527298 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:38527298C>T ENST00000263409.4 - 4 518 c.356G>A c.(355-357)gGa>gAa p.G119E LIFR_ENST00000453190.2_Missense_Mutation_p.G119E|LIFR_ENST00000503088.1_5'UTR NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 119 Fibronectin type-III 1. positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) TGTAGAACTTCCAAAATCATG 0.303000 T PLAG1 salivary adenoma 8 12 0 0 0.000274275 0 0 LILRP2 79166 broad.mit.edu 37 19 55224589 55224589 + RNA SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:55224589C>T ENST00000413439.1 + 0 1769 CTTGGTCCACCATCCCCAGCC 0.612000 4 9 0 0 0.00024832 0 0 MUC4 4585 broad.mit.edu 37 3 195516819 195516819 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:195516819C>T ENST00000463781.3 - 2 2091 c.1632G>A c.(1630-1632)gaG>gaA p.E544E MUC4_ENST00000475231.1_Silent_p.E544E|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 549 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ATGTGGTGGGCTCTCCTGGTT 0.562000 74 70 0 0 0.000147903 0 0 ANKS1B 56899 broad.mit.edu 37 12 99222980 99222980 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:99222980C>T ENST00000547776.2 - 19 3037 c.3038G>A c.(3037-3039)cGa>cAa p.R1013Q ANKS1B_ENST00000550693.2_Intron|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000332712.7_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000341752.7_Missense_Mutation_p.R19Q|ANKS1B_ENST00000329257.7_Missense_Mutation_p.R1013Q|ANKS1B_ENST00000546568.1_Intron|ANKS1B_ENST00000549558.2_Intron|ANKS1B_ENST00000549493.2_Missense_Mutation_p.R239Q|ANKS1B_ENST00000333732.7_Missense_Mutation_p.R19Q|ANKS1B_ENST00000546960.1_Missense_Mutation_p.R239Q|ANKS1B_ENST00000547446.1_Intron NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 1013 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) CAGTTTTGATCGGGGAATATC 0.428000 106 123 0 0 0.000147903 0 0 INO80 54617 broad.mit.edu 37 15 41365680 41365680 + Silent SNP A A G TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr15:41365680A>G ENST00000361937.3 - 11 1765 c.1341T>C c.(1339-1341)ttT>ttC p.F447F INO80_ENST00000401393.3_Silent_p.F447F Q9ULG1 INO80_HUMAN INO80 complex subunit 447 Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 CCTGGGCTTTAAAATGGTTAC 0.368000 31 42 0 0 0.000491102 0 0 EXT1 2131 broad.mit.edu 37 8 118819584 118819584 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr8:118819584G>A ENST00000378204.2 - 9 2561 c.1755C>T c.(1753-1755)ttC>ttT p.F585F NM_000127.2 NP_000118.2 Q16394 EXT1_HUMAN exostosin glycosyltransferase 1 585 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2) 38 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) TCCTCTCAGGGAAGCTCTGCC 0.507000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Langer-Giedion syndrome;Hereditary Multiple Exostoses 13 18 0 0 0.000219431 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187694550 187694550 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:187694550C>T ENST00000295131.2 - 8 1038 c.999G>A c.(997-999)aaG>aaA p.K333K NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 333 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) GCTTACTATTCTTAGTAATCA 0.388000 9 11 0 0 0.000442599 0 0 KCNQ5 56479 broad.mit.edu 37 6 73904447 73904447 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:73904447C>T ENST00000342056.2 + 15 2564 c.2166C>T c.(2164-2166)taC>taT p.Y722Y KCNQ5_ENST00000355194.4_Silent_p.Y703Y|KCNQ5_ENST00000402622.2_Silent_p.Y713Y|KCNQ5_ENST00000355635.3_Silent_p.Y704Y|KCNQ5_ENST00000403813.2_Silent_p.Y694Y|KCNQ5_ENST00000414165.2_Silent_p.Y593Y|KCNQ5_ENST00000370398.1_Silent_p.Y703Y NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 703 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) AGACTTTCTACGCGCTTAGCC 0.493000 48 59 0 0 0.000147903 0 0 OSR2 116039 broad.mit.edu 37 8 99963037 99963037 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr8:99963037C>T ENST00000523368.1 + 3 1306 c.810C>T c.(808-810)tgC>tgT p.C270C OSR2_ENST00000435298.2_Intron|OSR2_ENST00000457907.2_Intron|OSR2_ENST00000522510.1_Intron|OSR2_ENST00000297565.4_Intron Q8N2R0 OSR2_HUMAN odd-skipped related transciption factor 2 0 bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) ATCATTACTGCTTTGCAAAAG 0.358000 8 6 0 0 0.000157383 0 0 DNAJC14 85406 broad.mit.edu 37 12 56221260 56221260 + Nonsense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:56221260G>A ENST00000357606.3 - 3 1472 c.1183C>T c.(1183-1185)Cag>Tag p.Q395* DNAJC14_ENST00000317287.5_Nonsense_Mutation_p.Q395*|DNAJC14_ENST00000317269.3_Nonsense_Mutation_p.Q395*|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.S24L Q6Y2X3 DJC14_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 14 395 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1) 23 CAGCCCCACTGAACTATTCTT 0.552000 47 58 0 0 0.000147903 0 0 OR1A2 26189 broad.mit.edu 37 17 3101329 3101329 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr17:3101329G>A ENST00000381951.1 + 1 517 c.517G>A c.(517-519)Gaa>Aaa p.E173K NM_012352.1 NP_036484.1 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, member 2 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2) 18 TGGCAACCAGGAAGTAGCCAA 0.478000 40 4 0 0 0.000589545 0 0 GUCA1B 2979 broad.mit.edu 37 6 42152631 42152631 + Nonsense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:42152631C>T ENST00000230361.3 - 4 620 c.525G>A c.(523-525)tgG>tgA p.W175* NM_002098.5 NP_002089.4 Q9UMX6 GUC1B_HUMAN guanylate cyclase activator 1B (retina) 175 EF-hand 4. body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception plasma membrane calcium ion binding|calcium sensitive guanylate cyclase activator activity large_intestine(3)|lung(3)|skin(2) 8 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177) TCTTCATCACCCACTTGTCCC 0.577000 48 76 0 0 0.000147903 0 0 ATG2A 23130 broad.mit.edu 37 11 64663933 64663933 + Splice_Site SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:64663933C>T ENST00000421419.2 - 39 5548 c.e39+1 ATG2A_ENST00000377264.3_Splice_Site Q2TAZ0 ATG2A_HUMAN autophagy related 2A protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 CACCCACTCACCTGGATAGCC 0.637000 8 6 0 0 0.000157383 0 0 STAB2 55576 broad.mit.edu 37 12 104084292 104084292 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:104084292C>T ENST00000388887.2 + 30 3477 c.3273C>T c.(3271-3273)ttC>ttT p.F1091F NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1091 FAS1 3. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AGGGCAACTTCCTTCACTTGG 0.403000 27 45 0 0 0.000227799 0 0 MPP7 143098 broad.mit.edu 37 10 28420578 28420578 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr10:28420578C>T ENST00000337532.5 - 7 634 c.358G>A c.(358-360)Gac>Aac p.D120N MPP7_ENST00000540098.1_Missense_Mutation_p.D120N|MPP7_ENST00000375719.3_Missense_Mutation_p.D120N|MPP7_ENST00000375732.1_Missense_Mutation_p.D120N|MPP7_ENST00000445954.2_5'UTR|MPP7_ENST00000481244.1_5'UTR NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 120 L27 2. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 AACACTGGGTCGTAATTCTTC 0.358000 29 34 0 0 0.000409698 0 0 EPB41 2035 broad.mit.edu 37 1 29319972 29319972 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:29319972C>T ENST00000343067.4 + 3 726 c.599C>T c.(598-600)tCc>tTc p.S200F EPB41_ENST00000398863.2_Missense_Mutation_p.S200F|EPB41_ENST00000373797.1_Missense_Mutation_p.S200F|EPB41_ENST00000373798.1_Missense_Mutation_p.S200F|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000356093.2_Missense_Mutation_p.S200F|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000347529.3_Missense_Mutation_p.S200F NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 200 blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) TTAAAAGCTTCCCAAAAACCA 0.363000 41 46 0 0 0.000228196 0 0 CALR3 125972 broad.mit.edu 37 19 16590041 16590041 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:16590041C>T ENST00000269881.3 - 9 1118 c.1056G>A c.(1054-1056)atG>atA p.M352I CTD-3222D19.2_ENST00000409035.1_3'UTR NM_145046.4 NP_659483.2 Q96L12 CALR3_HUMAN calreticulin 3 352 C-domain.|Glu/Lys-rich. protein folding endoplasmic reticulum lumen calcium ion binding|sugar binding|unfolded protein binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1) 15 GGGCCTTCTTCATTTCCTCCT 0.483000 45 60 0 0 0.000147903 0 0 MYO3B 140469 broad.mit.edu 37 2 171260857 171260857 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr2:171260857C>T ENST00000334231.6 + 20 2405 c.2405C>T c.(2404-2406)gCa>gTa p.A802V MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.A793V|MYO3B_ENST00000408978.4_Missense_Mutation_p.A793V Q8WXR4 MYO3B_HUMAN myosin IIIB 793 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GGACTGCTTGCACTTTTGGAT 0.473000 18 31 0 0 7.07596e-05 0 0 CYP11A1 1583 broad.mit.edu 37 15 74636268 74636268 + Nonsense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr15:74636268G>A ENST00000358632.4 - 4 912 c.217C>T c.(217-219)Cag>Tag p.Q73* CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000268053.6_Nonsense_Mutation_p.Q231*|CYP11A1_ENST00000419019.2_Nonsense_Mutation_p.Q73* NM_001099773.1 NP_001093243.1 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 231 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) ATGAATCGCTGGGCCTCGGGG 0.562000 44 57 0 0 0.000147903 0 0 PRKCB 5579 broad.mit.edu 37 16 24135269 24135269 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr16:24135269C>T ENST00000303531.7 + 9 1184 c.1032C>T c.(1030-1032)ttC>ttT p.F344F PRKCB_ENST00000321728.7_Silent_p.F344F NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 344 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) ATTTTAACTTCCTAATGGTGC 0.478000 94 101 0 0 0.000147903 0 0 PRLR 5618 broad.mit.edu 37 5 35065415 35065415 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:35065415C>T ENST00000382002.5 - 10 2071 c.1645G>A c.(1645-1647)Gtg>Atg p.V549M PRLR_ENST00000342362.5_Missense_Mutation_p.V448M|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.V448M|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_3'UTR NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 549 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) ACCCCGGACACCTTGGCATAC 0.498000 30 32 0 0 0.000184323 0 0 NFE2L3 9603 broad.mit.edu 37 7 26225170 26225170 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr7:26225170G>A ENST00000056233.3 + 4 2111 c.1852G>A c.(1852-1854)Gaa>Aaa p.E618K NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 618 Leucine-zipper. transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 AGCAAAGAAGGAAACTCTTAA 0.328000 13 23 0 0 0.00010058 0 0 OR14A16 284532 broad.mit.edu 37 1 247978618 247978618 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:247978618G>A ENST00000357627.1 - 1 413 c.414C>T c.(412-414)acC>acT p.T138T NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T138T(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 TTTGGACACAGGTGCTCCTGT 0.527000 37 48 0 0 0.00058488 0 0 HFM1 164045 broad.mit.edu 37 1 91843681 91843681 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr1:91843681C>T ENST00000370425.3 - 11 1394 c.1296G>A c.(1294-1296)atG>atA p.M432I HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.M111I NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 432 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) GTACAGTTTTCATTCTGCTAA 0.348000 12 10 0 0 0.000151284 0 0 NUAK1 9891 broad.mit.edu 37 12 106460902 106460902 + Missense_Mutation SNP C C G TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr12:106460902C>G ENST00000261402.2 - 7 3043 c.1664G>C c.(1663-1665)gGt>gCt p.G555A NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 555 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 GGCAGGGACACCAGGCTCTGA 0.587000 23 28 0 0 0.000229342 0 0 MYH15 22989 broad.mit.edu 37 3 108183485 108183485 + Splice_Site SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:108183485C>T ENST00000273353.3 - 16 1847 c.1791_splice c.e16+1 p.V597_splice NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 597 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 GGTAACTCACCACTCCTGCAT 0.398000 41 68 0 0 0.000589545 0 0 CLTCL1 8218 broad.mit.edu 37 22 19223300 19223300 + Silent SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr22:19223300G>A ENST00000263200.10 - 6 960 c.888C>T c.(886-888)aaC>aaT p.N296N CLTCL1_ENST00000427926.1_Silent_p.N296N|CLTCL1_ENST00000353891.5_Silent_p.N296N NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 296 Globular terminal domain. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) CACTAATACGGTTCATGCAGA 0.408000 T ? ALCL 72 95 0 0 0.000147903 0 0 QSER1 79832 broad.mit.edu 37 11 32954769 32954769 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr11:32954769C>T ENST00000399302.2 + 4 1913 c.1578C>T c.(1576-1578)tcC>tcT p.S526S QSER1_ENST00000527788.1_Silent_p.S287S NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 526 Ser-rich. breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) CTTTTGCATCCTCTACTCATT 0.403000 34 41 0 0 0.000191422 0 0 CRISP3 10321 broad.mit.edu 37 6 49705064 49705064 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr6:49705064G>A ENST00000433368.2 - 2 184 c.115C>T c.(115-117)Cca>Tca p.P39S CRISP3_ENST00000263045.4_Missense_Mutation_p.P29S|CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000393666.1_Missense_Mutation_p.P16S|CRISP3_ENST00000371159.4_Missense_Mutation_p.P47S NM_001190986.1 NP_001177915.1 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 16 innate immune response proteinaceous extracellular matrix|specific granule breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) GGAAAAGATGGAAGCAGCCCA 0.418000 8 63 0 0 3.86212e-05 0 0 SLC14A2 8170 broad.mit.edu 37 18 43224013 43224013 + Silent SNP G G A rs149835341 TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr18:43224013G>A ENST00000255226.6 + 10 2055 c.1239G>A c.(1237-1239)acG>acA p.T413T SLC14A2_ENST00000586448.1_Silent_p.T413T NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 413 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TGCTCCTGACGACAAACAACC 0.542000 54 109 0 0 0.000147903 0 0 COL7A1 1294 broad.mit.edu 37 3 48626159 48626159 + Missense_Mutation SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:48626159C>T ENST00000328333.8 - 19 2610 c.2503G>A c.(2503-2505)Gaa>Aaa p.E835K COL7A1_ENST00000454817.1_Missense_Mutation_p.E835K NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 835 Fibronectin type-III 7.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ACTCCACCTTCGAGACCCCGG 0.602000 54 16 0 0 0.000147903 0 0 EMC2 9694 broad.mit.edu 37 8 109468135 109468135 + Silent SNP T T A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr8:109468135T>A ENST00000220853.3 + 5 374 c.339T>A c.(337-339)atT>atA p.I113I NM_014673.3 NP_055488.1 ER membrane protein complex subunit 2 ATGATAGGATTTTACAAGAAG 0.234000 7 46 0 0 0.000157383 0 0 GPR98 84059 broad.mit.edu 37 5 89931004 89931004 + Missense_Mutation SNP A A G TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr5:89931004A>G ENST00000405460.2 + 10 2009 c.1913A>G c.(1912-1914)aAt>aGt p.N638S NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 638 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GAAATCTGCAATATTTCTTTA 0.358000 20 19 0 0 0.000132079 0 0 ATP2C1 27032 broad.mit.edu 37 3 130673915 130673917 + In_Frame_Del DEL AGC AGC - TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr3:130673915_130673917delAGC ENST00000510168.1 + 10 1297_1299 c.747_749delAGC c.(745-750)caa>ca p.QA249del ATP2C1_ENST00000504381.1_In_Frame_Del_p.QA194del|ATP2C1_ENST00000428331.2_In_Frame_Del_p.QA249del|ATP2C1_ENST00000513801.1_In_Frame_Del_p.QA233del|ATP2C1_ENST00000533801.2_In_Frame_Del_p.QA244del|ATP2C1_ENST00000393221.4_In_Frame_Del_p.QA283del|ATP2C1_ENST00000507488.2_In_Frame_Del_p.QA233del|ATP2C1_ENST00000359644.3_In_Frame_Del_p.QA249del|ATP2C1_ENST00000328560.8_In_Frame_Del_p.QA249del|ATP2C1_ENST00000508532.1_In_Frame_Del_p.QA249del|ATP2C1_ENST00000505330.1_In_Frame_Del_p.QA233del|ATP2C1_ENST00000504948.1_In_Frame_Del_p.QA233del|ATP2C1_ENST00000422190.2_In_Frame_Del_p.QA249del P98194 AT2C1_HUMAN ATPase, Ca++ transporting, type 2C, member 1 249 actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) AAATGATGCAAGCAGAAGAGGTG 0.320 Hailey-Hailey disease 13 25 --- --- --- --- KIAA0368 23392 broad.mit.edu 37 9 114131447 114131448 + Frame_Shift_Ins INS - - T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr9:114131447_114131448insT ENST00000259335.4 - 47 5513_5514 c.5514_5515insA c.(5512-5517)tcttgafs p.*1839fs KIAA0368_ENST00000374378.3_Intron|KIAA0368_ENST00000465499.1_5'UTR|KIAA0368_ENST00000338205.5_Frame_Shift_Ins_p.*1661fs NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 CTGCTTTCAAGTGAGTTCTAGG 0.411 14 5 --- --- --- --- PDXDC1 23042 broad.mit.edu 37 16 15111005 15111006 + Frame_Shift_Del DEL TA TA - TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr16:15111005_15111006delTA ENST00000396410.4 + 10 938_939 c.841_842delTA c.(841-843)tfs p.Y281fs PDXDC1_ENST00000535621.2_Frame_Shift_Del_p.Y281fs|PDXDC1_ENST00000325823.7_Frame_Shift_Del_p.Y266fs|PDXDC1_ENST00000569715.1_Frame_Shift_Del_p.Y254fs|PDXDC1_ENST00000450288.2_Frame_Shift_Del_p.Y253fs|PDXDC1_ENST00000447912.2_Frame_Shift_Del_p.Y190fs|PDXDC1_ENST00000563679.1_Frame_Shift_Del_p.Y299fs|PDXDC1_ENST00000455313.2_Frame_Shift_Del_p.Y258fs NM_015027.2 NP_055842.2 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain containing 1 281 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) GGCTCTGGGTTATGTCTCCTCA 0.356 105 415 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578206 7578207 + Frame_Shift_Del DEL TA TA - TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr17:7578206_7578207delTA ENST00000420246.2 - 6 774_775 c.642_643delTA c.(640-645)cagtfs p.HS214fs TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.HS214fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.HS214fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.HS214fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.HS214fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.HS214fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 214 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (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.0?(8)|p.S215G(6)|p.S215C(5)|p.?(5)|p.H214Q(4)|p.S215R(2)|p.H214fs*5(2)|p.H214fs*7(1)|p.S215fs*27(1)|p.S215del(1)|p.H214_S215insX(1)|p.D208_V216delDRNTFRHSV(1)|p.H214H(1)|p.S215fs*29(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.S215fs*32(1)|p.S215fs*31(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*6(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) ACCACCACACTATGTCGAAAAG 0.540 111 """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) 7 7 --- --- --- --- TYK2 7297 broad.mit.edu 37 19 10463113 10463113 + Frame_Shift_Del DEL G G - TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25b5baab-3714-45ec-b5e2-30bb4527914d 2f342244-54db-4cbf-941e-da8ecd837c0e g.chr19:10463113delG ENST00000525621.1 - 23 3796 c.3315delC c.(3313-3315)ccfs p.P1105fs TYK2_ENST00000524462.1_Frame_Shift_Del_p.P920fs|TYK2_ENST00000529422.1_Intron|TYK2_ENST00000264818.6_Frame_Shift_Del_p.P1105fs NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 1105 Protein kinase 2. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) CTCTCACCGTGGGGGGGCTCT 0.602 54 107 --- --- --- ---