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 SYT2 127833 broad.mit.edu 37 1 202571539 202571539 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:202571539C>T ENST00000367267.1 - 5 792 c.600G>A c.(598-600)ctG>ctA p.L200L SYT2_ENST00000367268.4_Silent_p.L200L NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II 200 C2 1.|Phospholipid binding (By similarity). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity p.L200L(1) NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) AGGCAGGGTTCAGTGTCTTCC 0.517000 159 79 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43939476 43939476 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:43939476C>T ENST00000282406.4 + 15 2524 c.2414C>T c.(2413-2415)tCc>tTc p.S805F NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 805 cytoplasm|cytoskeleton|integral to membrane binding p.S805F(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AACCCACTTTCCCTGCAGCCT 0.478000 51 49 0 0 1 0 0 BTBD11 121551 broad.mit.edu 37 12 108011968 108011968 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:108011968G>A ENST00000280758.5 + 10 2793 c.2265G>A c.(2263-2265)gaG>gaA p.E755E BTBD11_ENST00000420571.2_Intron|BTBD11_ENST00000490090.2_Silent_p.E755E|BTBD11_ENST00000357167.4_Silent_p.E292E NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 755 integral to membrane DNA binding p.E755E(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 CCCAGCCAGAGAAGGAGAAGA 0.597000 9 64 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79296180 79296180 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr15:79296180C>T ENST00000419573.3 - 16 2735 c.2461G>A c.(2461-2463)Gag>Aag p.E821K RASGRF1_ENST00000394745.3_Missense_Mutation_p.E37K|RASGRF1_ENST00000558480.2_Missense_Mutation_p.E805K|RASGRF1_ENST00000560334.1_5'UTR NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 823 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity p.E821K(1) breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TCGGGCTTCTCAGGGGTCGTA 0.627000 34 43 0 0 1 0 0 SAMHD1 25939 broad.mit.edu 37 20 35521386 35521386 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr20:35521386G>A ENST00000262878.4 - 16 2029 c.1830C>T c.(1828-1830)ctC>ctT p.L610L TLDC2_ENST00000217320.3_3'UTR NM_015474.3 NP_056289.2 Q9Y3Z3 SAMH1_HUMAN SAM domain and HD domain 1 610 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity p.L610L(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) ATGCTTCTCGGAGGCGAGTTG 0.428000 93 163 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52535556 52535556 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr14:52535556C>G ENST00000216286.5 - 1 156 c.157G>C c.(157-159)Gac>Cac p.D53H NID2_ENST00000541773.1_Intron NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 53 basement membrane calcium ion binding|collagen binding p.D53H(1) NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) GAGCTTTCGTCGTCGCCTTCC 0.627000 26 21 0 0 1 0 0 TPR 7175 broad.mit.edu 37 1 186304579 186304579 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:186304579G>A ENST00000367478.4 - 34 5098 c.4802C>T c.(4801-4803)gCg>gTg p.A1601V NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity p.A1602V(1)|p.A1601V(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) GGACTTTAGCGCAGTAATGCG 0.423000 T NTRK1 papillary thyroid 6 31 0 0 1 0 0 DNAJC11 55735 broad.mit.edu 37 1 6697333 6697333 + Silent SNP C C A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:6697333C>A ENST00000377577.5 - 14 1572 c.1449G>T c.(1447-1449)gtG>gtT p.V483V DNAJC11_ENST00000542246.1_Silent_p.V445V|DNAJC11_ENST00000377573.5_Silent_p.V393V|DNAJC11_ENST00000294401.7_Silent_p.V431V|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000349363.6_Intron NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 483 protein folding heat shock protein binding|unfolded protein binding p.V483V(1) NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) CAATCACCTTCACCTTCTCGC 0.562000 91 117 3.28864e-39 3.4958e-39 1 1 0 TRIM46 80128 broad.mit.edu 37 1 155152267 155152267 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:155152267G>A ENST00000392451.2 + 9 1566 c.1483G>A c.(1483-1485)Ggc>Agc p.G495S TRIM46_ENST00000334634.4_Missense_Mutation_p.R482Q|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000543729.1_Missense_Mutation_p.G502S|TRIM46_ENST00000368382.1_Missense_Mutation_p.R459Q|TRIM46_ENST00000368383.3_Missense_Mutation_p.R482Q|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000545012.1_Missense_Mutation_p.R356Q|TRIM46_ENST00000368385.4_Missense_Mutation_p.R482Q Q7Z4K8 TRI46_HUMAN tripartite motif containing 46 0 Fibronectin type-III. intracellular zinc ion binding p.R482Q(1) NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CGCTGGCAGCGGCGGGAGGAG 0.687000 6 18 0 0 1 0 0 TRBJ2-4 28625 broad.mit.edu 37 7 142494712 142494712 + RNA SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:142494712G>A ENST00000390416.1 + 0 31 TCGGCGCCGGGACCCGGCTCT 0.711000 3 6 0 0 1 0 0 ORC1 4998 broad.mit.edu 37 1 52863536 52863536 + Splice_Site SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:52863536C>T ENST00000371568.3 - 4 442 c.e4-1 ORC1_ENST00000371566.1_Splice_Site NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding p.?(1) breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 GGATCAGAGTCTAGAAAGAAT 0.478000 34 98 0 0 1 0 0 ZHX2 22882 broad.mit.edu 37 8 123964977 123964977 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:123964977G>C ENST00000314393.4 + 3 2062 c.1227G>C c.(1225-1227)ttG>ttC p.L409F NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 409 Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.L409F(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) AGAGACCCTTGGTGACTCCCC 0.637000 3 54 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50121635 50121635 + RNA SNP C C A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chrX:50121635C>A ENST00000376025.2 - 0 2976 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding p.G769C(1) central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) TGCACAGAACCAAAGATTGCC 0.537000 3 2 6.4e-05 6.48e-05 1 1 0 CIT 11113 broad.mit.edu 37 12 120263155 120263155 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:120263155C>T ENST00000392521.2 - 8 826 c.771G>A c.(769-771)ccG>ccA p.P257P CIT_ENST00000261833.7_Silent_p.P257P NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 257 Protein kinase. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity p.P257P(2)|p.P258P(1) breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) GGGTCCCAATCGGGAGTTTGG 0.493000 40 64 0 0 1 0 0 GIMAP2 26157 broad.mit.edu 37 7 150390122 150390122 + Nonsense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:150390122C>T ENST00000223293.5 + 3 842 c.748C>T c.(748-750)Caa>Taa p.Q250* NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 250 integral to membrane GTP binding p.Q250*(1) kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CATGGAAACTCAAAGAAGTTA 0.383000 28 30 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64586261 64586261 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr14:64586261G>A ENST00000357395.3 + 68 13256 c.2112G>A c.(2110-2112)ctG>ctA p.L704L SYNE2_ENST00000554584.1_Silent_p.L4334L|SYNE2_ENST00000553455.1_Silent_p.L38L|SYNE2_ENST00000344113.4_Silent_p.L4319L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.L953L|SYNE2_ENST00000358025.3_Silent_p.L4319L|SYNE2_ENST00000394768.2_Silent_p.L704L Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4319 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding p.L4319L(1) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CCCTGAAACTGAAAACAGTGA 0.428000 32 21 0 0 1 0 0 GABRA6 2559 broad.mit.edu 37 5 161116651 161116651 + Missense_Mutation SNP C C A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:161116651C>A ENST00000523217.1 + 6 751 c.509C>A c.(508-510)cCc>cAc p.P170H GABRA6_ENST00000274545.5_Missense_Mutation_p.P180H NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 180 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity p.P180H(2) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GATGCTTATCCCAAAAGTGAA 0.328000 TCGA Ovarian(5;0.080) 6 15 1.06961e-07 1.09392e-07 1 1 0 TFPI2 7980 broad.mit.edu 37 7 93516176 93516176 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:93516176G>A ENST00000222543.5 - 5 976 c.664C>T c.(664-666)Cgc>Tgc p.R222C TFPI2_ENST00000545378.1_Missense_Mutation_p.R111C|GNGT1_ENST00000455502.1_Intron NM_001271003.1|NM_001271004.1|NM_006528.3 NP_001257932.1|NP_001257933.1|NP_006519.1 P48307 TFPI2_HUMAN tissue factor pathway inhibitor 2 222 blood coagulation proteinaceous extracellular matrix extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity p.R222C(1) endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) CTGGCAAAGCGAAGCTTTGGC 0.328000 33 85 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7556186 7556186 + Silent SNP A A G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:7556186A>G ENST00000313599.3 - 6 1410 c.1353T>C c.(1351-1353)gaT>gaC p.D451D CD163L1_ENST00000396630.1_Silent_p.D451D|CD163L1_ENST00000416109.2_Silent_p.D461D Q9NR16 C163B_HUMAN CD163 molecule-like 1 451 SRCR 4. extracellular region|integral to membrane|plasma membrane scavenger receptor activity p.D451D(1) breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 TTGCTTTTCCATCATATGTGC 0.413000 4 24 0 0 1 0 0 LYSMD3 116068 broad.mit.edu 37 5 89815090 89815090 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:89815090G>A ENST00000315948.6 - 3 611 c.467C>T c.(466-468)tCa>tTa p.S156L LYSMD3_ENST00000509384.1_3'UTR|LYSMD3_ENST00000500869.2_Intron NM_198273.1 NP_938014.1 Q7Z3D4 LYSM3_HUMAN LysM, putative peptidoglycan-binding, domain containing 3 156 cell wall macromolecule catabolic process integral to membrane p.S156L(1) breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1) 7 all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22) GCTACCAGCTGAGTCACTGTA 0.398000 14 41 0 0 1 0 0 SCNM1 79005 broad.mit.edu 37 1 151138954 151138954 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:151138954G>A ENST00000368905.4 + 2 170 c.59G>A c.(58-60)aGa>aAa p.R20K SCNM1_ENST00000461862.1_3'UTR NM_001204856.1|NM_024041.3 NP_001191785.1|NP_076946.1 Q9BWG6 SCNM1_HUMAN sodium channel modifier 1 20 mRNA processing|RNA splicing nucleus metal ion binding|protein binding p.R20K(1) breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CAGAAAAGAAGAGTCGGGGAC 0.527000 9 61 0 0 1 0 0 SUMO3 6612 broad.mit.edu 37 21 46228946 46228946 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr21:46228946G>A ENST00000397898.3 - 3 320 c.238C>T c.(238-240)Cgc>Tgc p.R80C SUMO3_ENST00000479153.1_Intron|SUMO3_ENST00000411651.2_Intron|SUMO3_ENST00000332859.6_Intron|SUMO3_ENST00000397893.3_Intron P55854 SUMO3_HUMAN small ubiquitin-like modifier 3 0 Ubiquitin-like. protein sumoylation cytoplasm|kinetochore protein binding prostate(1) 1 Colorectal(79;0.058) GGAACCACGCGAAGCCAGCTC 0.502000 31 19 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152583252 152583252 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:152583252C>T ENST00000367255.5 - 101 19488 c.18887G>A c.(18886-18888)aGa>aAa p.R6296K SYNE1_ENST00000341594.5_Missense_Mutation_p.R5908K|SYNE1_ENST00000265368.4_Missense_Mutation_p.R6296K|SYNE1_ENST00000448038.1_Missense_Mutation_p.R6225K|SYNE1_ENST00000423061.1_Missense_Mutation_p.R6225K|SYNE1_ENST00000356820.4_Missense_Mutation_p.R820K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6296 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.R6296K(2)|p.R6225K(1) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCATTTCATTCTCATCTGGTC 0.378000 HNSCC(10;0.0054) 23 61 0 0 1 0 0 SLC5A1 6523 broad.mit.edu 37 22 32480979 32480979 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr22:32480979C>T ENST00000266088.4 + 9 1228 c.978C>T c.(976-978)ttC>ttT p.F326F SLC5A1_ENST00000543737.1_Silent_p.F199F NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 326 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding p.F326F(1) NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 TGCCCATGTTCATCATGGTGA 0.502000 25 86 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36872833 36872833 + Silent SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:36872833G>C ENST00000429976.2 - 21 8356 c.8109C>G c.(8107-8109)gtC>gtG p.V2703V TRANK1_ENST00000428977.2_Silent_p.V2153V|TRANK1_ENST00000301807.6_Silent_p.V2153V NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2703 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding p.V2153V(1)|p.V2703V(1)|p.V2146V(1) NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CCTCCTCCCTGACACGCTCCA 0.592000 21 8 0 0 1 0 0 MAP3K5 4217 broad.mit.edu 37 6 137041602 137041602 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:137041602G>C ENST00000359015.4 - 2 934 c.574C>G c.(574-576)Ctg>Gtg p.L192V NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 192 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding p.L192V(1) NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) AGTGACTGCAGAGAGTCCGAG 0.443000 15 13 0 0 1 0 0 NNT 23530 broad.mit.edu 37 5 43650630 43650630 + Missense_Mutation SNP C C A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:43650630C>A ENST00000264663.5 + 12 1879 c.1658C>A c.(1657-1659)tCc>tAc p.S553Y NNT_ENST00000344920.4_Missense_Mutation_p.S553Y|NNT_ENST00000512996.2_Missense_Mutation_p.S422Y NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 553 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding p.S553Y(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) TTGTATCCTTCCACAACTTCT 0.443000 19 53 6.44725e-10 6.66106e-10 1 1 0 SETD2 29072 broad.mit.edu 37 3 47144868 47144868 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:47144868G>A ENST00000409792.3 - 7 4927 c.4885C>T c.(4885-4887)Cac>Tac p.H1629Y NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1629 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding p.H1629Y(2)|p.H1126Y(2) breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TCACAGCTGTGATTCATGAAA 0.333000 """N, F, S, Mis""" clear cell renal carcinoma 33 125 0 0 1 0 0 GMIP 51291 broad.mit.edu 37 19 19741332 19741332 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:19741332C>G ENST00000203556.4 - 20 2624 c.2487G>C c.(2485-2487)caG>caC p.Q829H GMIP_ENST00000445806.2_Missense_Mutation_p.Q800H|GMIP_ENST00000587238.1_Missense_Mutation_p.Q803H NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 829 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity p.Q829H(1) breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 TCTGGTCACTCTGTGGAGTTG 0.542000 71 46 0 0 1 0 0 CTRL 1506 broad.mit.edu 37 16 67964633 67964633 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:67964633G>A ENST00000574481.1 - 4 875 c.314C>T c.(313-315)tCt>tTt p.S105F NM_001907.2 NP_001898.1 P40313 CTRL_HUMAN chymotrypsin-like 105 Peptidase S1. digestion|proteolysis extracellular space serine-type endopeptidase activity p.S105F(1) kidney(1)|large_intestine(2)|urinary_tract(1) 4 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) ACTCACCCGAGAGACGGACAG 0.607000 38 147 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49176030 49176030 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:49176030G>A ENST00000340334.7 - 17 1961 c.1593C>T c.(1591-1593)ttC>ttT p.F531F FOLH1_ENST00000533034.1_Silent_p.F531F|FOLH1_ENST00000343844.4_Silent_p.F238F|FOLH1_ENST00000356696.3_Silent_p.F546F|FOLH1_ENST00000256999.2_Silent_p.F546F NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 546 NAALADase. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity p.F546F(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) GATAGCCGCTGAATTTGTTTG 0.333000 3 21 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2110409 2110409 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr9:2110409C>T ENST00000382203.1 + 24 3657 c.3448C>T c.(3448-3450)Cct>Tct p.P1150S SMARCA2_ENST00000349721.2_Missense_Mutation_p.P1150S|SMARCA2_ENST00000357248.2_Missense_Mutation_p.P1150S|SMARCA2_ENST00000382194.1_Missense_Mutation_p.P1150S P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 1150 Helicase C-terminal. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding p.P1146S(1)|p.P1150S(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) CGACTGGAATCCTCATCAGGT 0.478000 20 8 0 0 1 0 0 DRG2 1819 broad.mit.edu 37 17 18005268 18005268 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:18005268G>A ENST00000225729.3 + 9 901 c.763G>A c.(763-765)Gag>Aag p.E255K DRG2_ENST00000583355.1_Intron|DRG2_ENST00000395726.4_Missense_Mutation_p.E255K NM_001388.4 NP_001379.1 P55039 DRG2_HUMAN developmentally regulated GTP binding protein 2 255 signal transduction GTP binding p.E255K(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 14 all_neural(463;0.228) CTCCATGGAAGAGGTGGACCG 0.567000 16 8 0 0 1 0 0 MTSS1 9788 broad.mit.edu 37 8 125568500 125568500 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:125568500C>T ENST00000518547.1 - 12 1850 c.1377G>A c.(1375-1377)cgG>cgA p.R459R MTSS1_ENST00000325064.5_Silent_p.R463R|MTSS1_ENST00000524090.1_Silent_p.R349R|MTSS1_ENST00000378017.3_Silent_p.R434R|MTSS1_ENST00000395508.2_Silent_p.R233R|MTSS1_ENST00000354184.4_Silent_p.R177R|MTSS1_ENST00000431961.2_Silent_p.R177R|MTSS1_ENST00000523587.1_5'UTR|NDUFB9_ENST00000522532.1_Intron NM_001282971.1|NM_014751.4 NP_001269900.1|NP_055566.3 O43312 MTSS1_HUMAN metastasis suppressor 1 459 actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding p.R459R(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CAGTCATGCTCCGTGGTCTCT 0.632000 9 22 0 0 1 0 0 PDE7A 5150 broad.mit.edu 37 8 66659966 66659966 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:66659966C>G ENST00000401827.3 - 4 799 c.356G>C c.(355-357)aGa>aCa p.R119T PDE7A_ENST00000396642.3_Missense_Mutation_p.R119T|PDE7A_ENST00000379419.4_Missense_Mutation_p.R93T|PDE7A_ENST00000518667.1_5'UTR NM_001242318.2 NP_001229247.1 Q13946 PDE7A_HUMAN phosphodiesterase 7A 119 cell fraction|cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding p.R93T(1)|p.R119T(1) large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1) 10 Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238) Dyphylline(DB00651)|Ketotifen(DB00920) GCGTGAAGATCTAAGATATCG 0.343000 15 33 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43450556 43450556 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr18:43450556C>G ENST00000282041.5 - 36 6235 c.6201G>C c.(6199-6201)caG>caC p.Q2067H EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 2067 autophagy p.Q2067H(1) 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 CCATGAGCATCTGGTCAGGGT 0.517000 9 30 0 0 1 0 0 RUSC1-AS1 284618 broad.mit.edu 37 1 155290498 155290498 + RNA SNP C C A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:155290498C>A ENST00000446880.1 - 0 410 RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA Q66K80 RUAS1_HUMAN GAGTCTGGCTCTTTCCAGAAT 0.547000 32 18 2.61193e-14 2.71936e-14 1 1 0 NDRG4 65009 broad.mit.edu 37 16 58537754 58537754 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:58537754C>G ENST00000394282.4 + 4 637 c.230C>G c.(229-231)tCc>tGc p.S77C NDRG4_ENST00000566192.1_Missense_Mutation_p.S25C|NDRG4_ENST00000356752.4_Missense_Mutation_p.S55C|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000258187.5_Missense_Mutation_p.S57C|NDRG4_ENST00000568640.1_Missense_Mutation_p.S43C|NDRG4_ENST00000569923.1_5'UTR|NDRG4_ENST00000570248.1_Missense_Mutation_p.S25C|NDRG4_ENST00000394279.2_Missense_Mutation_p.S57C|NDRG4_ENST00000562999.1_Missense_Mutation_p.S25C|NDRG4_ENST00000563799.1_Missense_Mutation_p.S25C NM_001130487.1 NP_001123959.1 Q9ULP0 NDRG4_HUMAN NDRG family member 4 25 cell differentiation|cell growth|multicellular organismal development|response to stress cytoplasm p.S57C(1) breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 ATCCGGGGCTCCCCCAAGGGG 0.622000 10 71 0 0 1 0 0 ELAVL4 1996 broad.mit.edu 37 1 50610766 50610766 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:50610766C>T ENST00000371824.1 + 2 404 c.147C>T c.(145-147)atC>atT p.I49I ELAVL4_ENST00000371827.1_Silent_p.I49I|ELAVL4_ENST00000371819.1_Silent_p.I54I|ELAVL4_ENST00000357083.4_Silent_p.I66I|ELAVL4_ENST00000371821.1_Silent_p.I54I|ELAVL4_ENST00000448907.2_Silent_p.I52I|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000371823.4_Silent_p.I49I P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 49 RRM 1. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding p.I49I(1)|p.I66I(1) NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 CCAACCTCATCGTCAACTATT 0.448000 8 31 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296555 39296555 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:39296555C>T ENST00000345847.4 - 1 184 c.185G>A c.(184-186)cGt>cAt p.R62H NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 62 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament p.R62H(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 gcagctgggacggcagcAGGT 0.667000 13 49 0 0 1 0 0 DNAI2 64446 broad.mit.edu 37 17 72297252 72297252 + Missense_Mutation SNP A A G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:72297252A>G ENST00000579490.1 + 7 1238 c.1103A>G c.(1102-1104)aAg>aGg p.K368R DNAI2_ENST00000446837.2_Missense_Mutation_p.K311R|DNAI2_ENST00000307504.5_Missense_Mutation_p.K168R|DNAI2_ENST00000582036.1_Missense_Mutation_p.K311R|DNAI2_ENST00000311014.6_Missense_Mutation_p.K311R Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 311 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity p.K311R(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 ATCACCAAGAAGGAACAGTTG 0.547000 Kartagener syndrome 103 172 0 0 1 0 0 ARID5A 10865 broad.mit.edu 37 2 97216890 97216890 + Nonsense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:97216890C>T ENST00000454558.2 + 7 1598 c.421C>T c.(421-423)Cag>Tag p.Q141* ARID5A_ENST00000357485.3_Nonsense_Mutation_p.Q209* Q03989 ARI5A_HUMAN AT rich interactive domain 5A (MRF1-like) 209 ARID. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding p.Q209*(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 ACTTCCCAGCCAGGAGCCCCC 0.597000 73 117 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145806415 145806415 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:145806415C>T ENST00000276826.5 - 2 528 c.327G>A c.(325-327)ctG>ctA p.L109L ARHGAP39_ENST00000377307.2_Silent_p.L109L|ARHGAP39_ENST00000540274.1_Silent_p.L109L Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 109 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity p.L109L(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 TGTTCTGCTTCAGCGTCTGCA 0.701000 8 3 0 0 1 0 0 ITGB8 3696 broad.mit.edu 37 7 20438615 20438615 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:20438615G>A ENST00000222573.4 + 9 1963 c.1279G>A c.(1279-1281)Gaa>Aaa p.E427K ITGB8_ENST00000537992.1_Missense_Mutation_p.E292K NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity p.E427K(2) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 GAGCAATGATGAAGTATGTGG 0.388000 11 27 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135261759 135261759 + Silent SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:135261759G>C ENST00000285968.6 + 5 557 c.531G>C c.(529-531)ctG>ctC p.L177L NUP205_ENST00000440390.2_5'UTR NM_015135.2 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 177 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding p.L177L(1) breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 CAGATGAGCTGATGGAGCAAG 0.388000 12 23 0 0 1 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22864348 22864348 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr15:22864348G>A ENST00000283645.4 + 16 2436 c.2306G>A c.(2305-2307)cGt>cAt p.R769H TUBGCP5_ENST00000453949.2_Missense_Mutation_p.R769H NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 769 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding p.R769H(1) breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) GTAGGACAGCGTTATCCTGAA 0.348000 6 156 0 0 1 0 0 C15orf59 388135 broad.mit.edu 37 15 74032895 74032895 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr15:74032895G>C ENST00000569673.1 - 3 1449 c.245C>G c.(244-246)tCt>tGt p.S82C C15orf59_ENST00000379822.4_Missense_Mutation_p.S82C|C15orf59_ENST00000558834.1_Intron Q2T9L4 CO059_HUMAN chromosome 15 open reading frame 59 82 p.S82C(1) breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GTCACTGCTAGAGGTGCTGCT 0.587000 84 385 0 0 1 0 0 SLC12A3 6559 broad.mit.edu 37 16 56906612 56906612 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:56906612G>C ENST00000438926.2 + 8 1038 c.1009G>C c.(1009-1011)Gat>Cat p.D337H SLC12A3_ENST00000566786.1_Missense_Mutation_p.D336H|SLC12A3_ENST00000262502.5_Missense_Mutation_p.D336H|SLC12A3_ENST00000563236.1_Missense_Mutation_p.D337H NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 337 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity p.D337H(1) breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) GCGGGGTCCAGATGGCACCTT 0.562000 41 40 0 0 1 0 0 LOC100134368 100134368 broad.mit.edu 37 16 437161 437161 + RNA SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:437161G>A ENST00000412293.1 + 0 521 NR_024453.2 CTGATGGAGAGAAGAAGGCAT 0.478000 22 92 0 0 1 0 0 TRIM59 286827 broad.mit.edu 37 3 160156351 160156351 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:160156351G>A ENST00000543469.1 - 2 835 c.621C>T c.(619-621)ctC>ctT p.L207L TRIM59_ENST00000309784.4_Silent_p.L207L|RP11-432B6.3_ENST00000483754.1_Silent_p.L207L Q8IWR1 TRI59_HUMAN tripartite motif containing 59 207 integral to membrane|intracellular zinc ion binding p.L207L(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3) 15 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CAACATCACAGAGAGCCGTTA 0.353000 38 161 0 0 1 0 0 ERC1 23085 broad.mit.edu 37 12 1213916 1213916 + Splice_Site SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:1213916G>A ENST00000397203.2 + 4 1493 c.1087G>A c.(1087-1089)Gag>Aag p.E363K ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Splice_Site_p.E363K|ERC1_ENST00000589028.1_Splice_Site_p.E363K|ERC1_ENST00000546231.2_Splice_Site_p.E363K|ERC1_ENST00000355446.5_Splice_Site_p.E363K|ERC1_ENST00000543086.3_Splice_Site_p.E363K Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 363 I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding p.E363K(1) NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) TTTTCTACAGGAGATGCATCG 0.413000 26 111 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43783886 43783886 + Missense_Mutation SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr15:43783886G>T ENST00000263801.3 - 4 589 c.337C>A c.(337-339)Cag>Aag p.Q113K TP53BP1_ENST00000450115.2_Missense_Mutation_p.Q118K|TP53BP1_ENST00000382039.3_Missense_Mutation_p.Q118K|TP53BP1_ENST00000382044.4_Missense_Mutation_p.Q118K NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 113 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity p.Q113K(1) breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) CTGTTTGGCTGAGGTAACTGC 0.393000 Other conserved DNA damage response genes 169 335 6.04909e-70 6.48116e-70 1 1 0 KLHL7 55975 broad.mit.edu 37 7 23180423 23180423 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:23180423G>A ENST00000339077.5 + 5 721 c.478G>A c.(478-480)Gaa>Aaa p.E160K KLHL7_ENST00000545443.1_Missense_Mutation_p.E138K|KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000322231.7_Missense_Mutation_p.E138K|KLHL7_ENST00000539124.1_Missense_Mutation_p.E84K|KLHL7_ENST00000409689.1_Missense_Mutation_p.E112K|KLHL7_ENST00000479288.1_3'UTR NM_001031710.2 NP_001026880.2 Q8IXQ5 KLHL7_HUMAN kelch-like family member 7 Golgi apparatus|nucleolus|plasma membrane p.E138K(1)|p.E160K(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AGATTGTCCTGAATTGAAAGC 0.328000 67 57 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214794110 214794110 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:214794110C>T ENST00000366955.3 + 6 854 c.686C>T c.(685-687)tCa>tTa p.S229L NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 229 Interaction with SNAP25 and required for localization to the cytoplasm (By similarity). cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding p.S229L(1) NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AGTCATCTTTCATCTAATTCT 0.458000 67 36 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32914733 32914733 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr13:32914733G>C ENST00000544455.1 + 11 6468 c.6241G>C c.(6241-6243)Gag>Cag p.E2081Q BRCA2_ENST00000380152.3_Missense_Mutation_p.E2081Q NM_000059.3 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2081 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding p.E2081Q(2) NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GGGAGTGTTAGAGGAATTTGA 0.353000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 56 71 0 0 1 0 0 CRIM1 51232 broad.mit.edu 37 2 36744610 36744610 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:36744610G>C ENST00000280527.2 + 12 2498 c.2131G>C c.(2131-2133)Gag>Cag p.E711Q NM_016441.2 NP_057525.1 Q9NZV1 CRIM1_HUMAN cysteine rich transmembrane BMP regulator 1 (chordin-like) 711 VWFC 4. nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity p.E711Q(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) GGTGCTGTGTGAGACAGAGGT 0.582000 9 95 0 0 1 0 0 CSNK2A3 283106 broad.mit.edu 37 11 11373695 11373695 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:11373695G>C ENST00000528848.2 - 1 1209 c.972C>G c.(970-972)ttC>ttG p.F324L GALNT18_ENST00000227756.4_Intron NM_001256686.1 NP_001243615.1 casein kinase 2, alpha 3 polypeptide CAACAGTGTAGAAATAGGGGT 0.547000 25 58 0 0 1 0 0 EPC1 80314 broad.mit.edu 37 10 32635714 32635714 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr10:32635714C>T ENST00000319778.6 - 1 432 c.130G>A c.(130-132)Gga>Aga p.G44R EPC1_ENST00000263062.8_Missense_Mutation_p.G44R|EPC1_ENST00000480402.1_5'UTR|EPC1_ENST00000375110.2_Intron|RP11-135A24.4_ENST00000412085.1_RNA NM_001272004.1|NM_001272019.2 NP_001258933.1|NP_001258948.1 Q9H2F5 EPC1_HUMAN enhancer of polycomb homolog 1 (Drosophila) 44 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex p.G44R(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1) 24 Prostate(175;0.0199) TTCTCCATTCCGGTGGGCATC 0.647000 OREG0020115 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 79 0 0 1 0 0 SV2A 9900 broad.mit.edu 37 1 149885327 149885327 + Silent SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:149885327G>T ENST00000369146.3 - 2 556 c.66C>A c.(64-66)gtC>gtA p.V22V SV2A_ENST00000369145.1_Silent_p.V22V NM_001278719.1|NM_014849.3 NP_001265648.1|NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 22 Interaction with SYT1 (By similarity). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.V22V(1) breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) CATGCTTTTTGACTTCCTTAG 0.552000 130 181 8.39805e-80 9.02177e-80 1 1 0 RUSC1-AS1 284618 broad.mit.edu 37 1 155290466 155290466 + RNA SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:155290466C>G ENST00000446880.1 - 0 410 RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA Q66K80 RUAS1_HUMAN TCTTGTGGTTCTGTTCTTGCT 0.557000 29 20 0 0 1 0 0 OR4A47 403253 broad.mit.edu 37 11 48511051 48511051 + Nonsense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:48511051C>G ENST00000446524.1 + 1 783 c.707C>G c.(706-708)tCa>tGa p.S236* NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S236*(1) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 AAAGCCCTCTCAACCTGCAGT 0.433000 14 27 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24202490 24202490 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:24202490G>A ENST00000303531.7 + 16 1954 c.1802G>A c.(1801-1803)cGg>cAg p.R601Q PRKCB_ENST00000321728.7_Missense_Mutation_p.R601Q NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 601 AGC-kinase C-terminal. 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 p.R601Q(2) central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) GCATTTTTCCGGTATATTGAT 0.463000 3 87 0 0 1 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151152717 151152717 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:151152717C>G ENST00000367328.1 + 16 2782 c.2470C>G c.(2470-2472)Cat>Gat p.H824D PLEKHG1_ENST00000358517.2_Missense_Mutation_p.H824D NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 824 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity p.H824D(1) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) GTCTATGCCTCATAAGCCTGT 0.458000 123 155 0 0 1 0 0 KDM4A 9682 broad.mit.edu 37 1 44169940 44169940 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:44169940G>A ENST00000372396.3 + 22 3228 c.3094G>A c.(3094-3096)Gag>Aag p.E1032K KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000398804.3_RNA|KDM4A-AS1_ENST00000434346.1_RNA|KDM4A-AS1_ENST00000453015.1_RNA NM_014663.2 NP_055478.2 O75164 KDM4A_HUMAN lysine (K)-specific demethylase 4A 1032 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding p.E1032K(1) breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 GATTTTCACAGAGAAAGAGGT 0.438000 144 172 0 0 1 0 0 PCSK9 255738 broad.mit.edu 37 1 55523842 55523842 + Silent SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:55523842C>G ENST00000302118.5 + 8 1604 c.1314C>G c.(1312-1314)ccC>ccG p.P438P PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Intron NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 438 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding p.P438P(1) NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 TACTGACCCCCAACCTGGTGG 0.627000 15 71 0 0 1 0 0 ASPG 374569 broad.mit.edu 37 14 104570652 104570652 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr14:104570652C>G ENST00000551177.1 + 8 857 c.765C>G c.(763-765)ttC>ttG p.F255L ASPG_ENST00000455920.2_Missense_Mutation_p.F255L|ASPG_ENST00000546892.2_Missense_Mutation_p.F255L NM_001080464.2 NP_001073933.2 Q86U10 LPP60_HUMAN asparaginase homolog (S. cerevisiae) 255 Asparaginase. lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity p.F255L(1)|p.F283L(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 11 TTCGGGCCTTCTTGCAGCCTC 0.677000 8 23 0 0 1 0 0 MICAL1 64780 broad.mit.edu 37 6 109766413 109766413 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:109766413C>G ENST00000368952.4 - 22 3215 c.2925G>C c.(2923-2925)ttG>ttC p.L975F MICAL1_ENST00000358577.3_Missense_Mutation_p.L870F|MICAL1_ENST00000358807.3_Missense_Mutation_p.L956F Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 956 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding p.L956F(1) NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) TCTGGCGCCTCAAGGCCAGCT 0.592000 14 74 0 0 1 0 0 SLC25A2 83884 broad.mit.edu 37 5 140683343 140683343 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:140683343G>A ENST00000239451.4 - 1 269 c.90C>T c.(88-90)ttC>ttT p.F30F NM_031947.2 NP_114153.1 Q9BXI2 ORNT2_HUMAN solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 30 mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity p.F30F(1) breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) TTATTGTGTCGAAGGGCTGCC 0.597000 17 40 0 0 1 0 0 B2M 567 broad.mit.edu 37 15 45007713 45007713 + Missense_Mutation SNP G G A rs148494241 TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr15:45007713G>A ENST00000558401.1 + 2 230 c.160G>A c.(160-162)Gac>Aac p.D54N B2M_ENST00000559916.1_Missense_Mutation_p.D54N|B2M_ENST00000559220.1_Intron|B2M_ENST00000544417.1_Missense_Mutation_p.D54N NM_004048.2 NP_004039.1 P61769 B2MG_HUMAN beta-2-microglobulin 54 Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction early endosome membrane|Golgi membrane|MHC class I protein complex protein binding p.D54N(1) breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 59 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) TCATCCATCCGACATTGAAGT 0.408000 65 252 0 0 1 0 0 POM121C 100101267 broad.mit.edu 37 7 75048154 75048154 + Silent SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:75048154G>C ENST00000453279.2 - 15 3753 c.2889C>G c.(2887-2889)tcC>tcG p.S963S POM121C_ENST00000257665.5_Silent_p.S1205S NM_001099415.1 NP_001092885 A8CG34 P121C_HUMAN POM121 transmembrane nucleoporin C 1205 Pore side (Potential). mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding p.S963S(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 CCGCACCAATGGAAAATGAAG 0.592000 6 26 0 0 1 0 0 DRG2 1819 broad.mit.edu 37 17 18004839 18004839 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:18004839G>C ENST00000225729.3 + 8 802 c.664G>C c.(664-666)Gac>Cac p.D222H DRG2_ENST00000583355.1_Intron|DRG2_ENST00000395726.4_Missense_Mutation_p.D222H NM_001388.4 NP_001379.1 P55039 DRG2_HUMAN developmentally regulated GTP binding protein 2 222 signal transduction GTP binding p.D222H(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 14 all_neural(463;0.228) TTTCCGAGAAGACTGCTCCCC 0.607000 31 45 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152188121 152188121 + Missense_Mutation SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:152188121G>T ENST00000368801.2 - 3 6059 c.5984C>A c.(5983-5985)tCt>tAt p.S1995Y FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1995 keratinization calcium ion binding|protein binding p.S1995Y(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTGAGCGAGACTCTCGGTG 0.572000 76 1273 5.43694e-19 5.71937e-19 1 1 0 NRXN3 9369 broad.mit.edu 37 14 79270112 79270112 + Missense_Mutation SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr14:79270112G>T ENST00000554719.1 + 6 1566 c.1075G>T c.(1075-1077)Gac>Tac p.D359Y NRXN3_ENST00000335750.5_Missense_Mutation_p.D359Y NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 137 angiogenesis|cell adhesion integral to membrane p.D359Y(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GGACTCTGCCGACACCCTGCG 0.572000 12 21 1.5842e-08 1.63257e-08 1 1 0 PCDHGB4 8641 broad.mit.edu 37 5 140769192 140769192 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:140769192G>C ENST00000519479.1 + 1 1741 c.1741G>C c.(1741-1743)Gag>Cag p.E581Q PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_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 p.E581Q(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) GCACGCTGCAGAGCCTGGCTA 0.652000 12 39 0 0 1 0 0 VAV2 7410 broad.mit.edu 37 9 136804249 136804249 + Silent SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr9:136804249G>T ENST00000371851.1 - 2 622 c.297C>A c.(295-297)ctC>ctA p.L99L VAV2_ENST00000486113.1_5'UTR|VAV2_ENST00000371850.3_Silent_p.L99L|VAV2_ENST00000406606.3_Silent_p.L99L P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor 99 CH. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity p.L99L(2) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) GCACATCGAAGAGGTCAAAGG 0.532000 30 107 2.24059e-21 2.36313e-21 1 1 0 GGA1 26088 broad.mit.edu 37 22 38010268 38010268 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr22:38010268G>A ENST00000343632.4 + 2 501 c.115G>A c.(115-117)Gag>Aag p.E39K GGA1_ENST00000337437.4_Missense_Mutation_p.E39K|GGA1_ENST00000381756.5_Missense_Mutation_p.E39K|GGA1_ENST00000406772.1_5'UTR|GGA1_ENST00000405147.3_Missense_Mutation_p.E39K|GGA1_ENST00000325180.8_Missense_Mutation_p.E39K|GGA1_ENST00000414350.3_Missense_Mutation_p.E39K NM_001172687.1|NM_013365.4 NP_001166158.1|NP_037497.1 Q9UJY5 GGA1_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 1 39 VHS. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|Golgi apparatus part protein binding p.E39K(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 10 Melanoma(58;0.0574) GCAGCTCAACGAGGACTTTGA 0.607000 13 42 0 0 1 0 0 ABLIM2 84448 broad.mit.edu 37 4 7985051 7985051 + Silent SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr4:7985051G>C ENST00000318888.4 - 19 1738 c.867C>G c.(865-867)ctC>ctG p.L289L ABLIM2_ENST00000407564.3_Silent_p.L464L|ABLIM2_ENST00000505872.1_Silent_p.L502L|ABLIM2_ENST00000361581.5_Silent_p.L515L|ABLIM2_ENST00000341937.5_Silent_p.L554L|ABLIM2_ENST00000514025.1_Silent_p.L289L|ABLIM2_ENST00000296372.8_Silent_p.L516L|ABLIM2_ENST00000447017.2_Silent_p.L588L|ABLIM2_ENST00000546334.1_Silent_p.L474L|ABLIM2_ENST00000545242.1_Silent_p.L514L|ABLIM2_ENST00000361737.5_Silent_p.L474L Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 554 axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding p.L588L(1) NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 TTGTGACGATGAGGGAGTCAT 0.562000 6 25 0 0 1 0 0 CCDC144A 9720 broad.mit.edu 37 17 16623915 16623915 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:16623915C>T ENST00000443444.2 + 8 1974 c.1834C>T c.(1834-1836)Cac>Tac p.H612Y CCDC144A_ENST00000360524.8_Missense_Mutation_p.H612Y|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.H612Y|CCDC144A_ENST00000456009.1_Missense_Mutation_p.H332Y|CCDC144A_ENST00000399273.1_Missense_Mutation_p.H612Y A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 612 p.H612Y(1) TGAATTGTCTCACTCTGTTTA 0.373000 5 40 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94476481 94476481 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:94476481C>T ENST00000370225.3 - 40 5675 c.5589G>A c.(5587-5589)gaG>gaA p.E1863E ABCA4_ENST00000535881.1_5'UTR|ABCA4_ENST00000536513.1_Silent_p.E133E|ABCA4_ENST00000465352.1_5'UTR NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1863 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances p.E1863E(1) NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CAGAGTGCTCCTCACCTGGGC 0.592000 8 30 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175897020 175897020 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr4:175897020C>T ENST00000359240.3 + 5 1014 c.344C>T c.(343-345)tCc>tTc p.S115F ADAM29_ENST00000445694.1_Missense_Mutation_p.S115F|ADAM29_ENST00000404450.4_Missense_Mutation_p.S115F|ADAM29_ENST00000514159.1_Missense_Mutation_p.S115F NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 115 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding p.S115F(2) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TCCCTGGTTTCCCTCAGTACC 0.443000 9 31 0 0 1 0 0 ABCA10 10349 broad.mit.edu 37 17 67178946 67178946 + Nonsense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:67178946G>C ENST00000269081.4 - 22 3410 c.2501C>G c.(2500-2502)tCa>tGa p.S834* ABCA10_ENST00000416101.2_3'UTR NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 834 transport integral to membrane ATP binding|ATPase activity p.S834*(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) TTCAATATTTGATCCTAACAT 0.333000 8 47 0 0 1 0 0 APOL2 23780 broad.mit.edu 37 22 36624296 36624296 + Silent SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr22:36624296C>G ENST00000249066.6 - 6 644 c.168G>C c.(166-168)ctG>ctC p.L56L APOL2_ENST00000451256.2_Silent_p.L168L|APOL2_ENST00000358502.5_Silent_p.L56L NM_145637.1 NP_663612.1 Q9BQE5 APOL2_HUMAN apolipoprotein L, 2 56 acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development endoplasmic reticulum membrane|extracellular region high-density lipoprotein particle binding|lipid binding|receptor binding p.L56L(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2) 9 CAAGCTTGTTCAGAGCTTTAC 0.453000 55 150 0 0 1 0 0 EPB41 2035 broad.mit.edu 37 1 29438918 29438918 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:29438918G>C ENST00000343067.4 + 19 2581 c.2454G>C c.(2452-2454)aaG>aaC p.K818N EPB41_ENST00000398863.2_Missense_Mutation_p.K721N|EPB41_ENST00000356093.2_Missense_Mutation_p.K785N|EPB41_ENST00000460378.1_3'UTR|EPB41_ENST00000347529.3_Missense_Mutation_p.K729N|EPB41_ENST00000349460.4_Missense_Mutation_p.K595N|EPB41_ENST00000373798.1_Missense_Mutation_p.K818N|EPB41_ENST00000373800.3_Missense_Mutation_p.K542N NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 818 Carboxyl-terminal (CTD). 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 p.K818N(1)|p.K595N(1) 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) GTATTGAAAAGAGAATTGTGA 0.428000 31 106 0 0 1 0 0 TAF6 6878 broad.mit.edu 37 7 99710524 99710524 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:99710524C>T ENST00000344095.4 - 6 996 c.471G>A c.(469-471)caG>caA p.Q157Q TAF6_ENST00000452041.1_Silent_p.Q157Q|TAF6_ENST00000453269.2_Silent_p.Q157Q|TAF6_ENST00000472509.1_Silent_p.Q214Q|TAF6_ENST00000418432.2_Silent_p.Q81Q|TAF6_ENST00000437822.2_Silent_p.Q194Q NM_005641.3 NP_005632.1 P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 157 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.Q157Q(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTTCAGCCTTCTGTTGCTCTT 0.602000 93 227 0 0 1 0 0 GLIS1 148979 broad.mit.edu 37 1 54060249 54060249 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:54060249C>T ENST00000312233.2 - 3 893 c.327G>A c.(325-327)ctG>ctA p.L109L NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 109 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding p.L109L(1) endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 GATCTCCCGTCAGAGGGGGGC 0.657000 19 56 0 0 1 0 0 CXorf23 256643 broad.mit.edu 37 X 19947930 19947930 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chrX:19947930G>A ENST00000379687.3 - 10 2025 c.1992C>T c.(1990-1992)ttC>ttT p.F664F CXorf23_ENST00000356980.3_3'UTR|CXorf23_ENST00000379682.4_Silent_p.F693F NM_198279.3 NP_938020.2 A2AJT9 CX023_HUMAN chromosome X open reading frame 23 693 mitochondrion p.F664F(1)|p.F258F(1) endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1) 11 ATCTTTCTCTGAACTTATGAG 0.333000 76 17 0 0 1 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51957508 51957508 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:51957508C>G ENST00000321424.3 - 6 1276 c.1210G>C c.(1210-1212)Gaa>Caa p.E404Q SIGLEC8_ENST00000430817.1_Missense_Mutation_p.E295Q|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.E311Q NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 404 cell adhesion integral to membrane sugar binding|transmembrane receptor activity p.E404Q(1) NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TTTGCATCTTCCATGCCTGTA 0.597000 21 143 0 0 1 0 0 RTN2 6253 broad.mit.edu 37 19 45997499 45997499 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:45997499C>G ENST00000245923.4 - 4 974 c.739G>C c.(739-741)Gag>Cag p.E247Q RTN2_ENST00000344680.4_Missense_Mutation_p.E247Q|RTN2_ENST00000590526.1_5'UTR|PPM1N_ENST00000401705.1_Intron NM_005619.4 NP_005610.1 O75298 RTN2_HUMAN reticulon 2 247 integral to endoplasmic reticulum membrane signal transducer activity p.E247Q(1) cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1) 20 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) GGCTCTCGCTCCAGTGGCCCC 0.577000 154 78 0 0 1 0 0 AZI1 22994 broad.mit.edu 37 17 79164838 79164838 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:79164838C>G ENST00000269392.4 - 23 3068 c.2821G>C c.(2821-2823)Gag>Cag p.E941Q AZI1_ENST00000450824.2_Missense_Mutation_p.E938Q|AZI1_ENST00000374782.3_Missense_Mutation_p.E902Q|AZI1_ENST00000575907.1_Missense_Mutation_p.E905Q NM_014984.2 NP_055799.2 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 941 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle p.E938Q(1)|p.E902Q(1) breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5) 36 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) TCCGACTGCTCCAGCTCGGAG 0.662000 20 76 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55433450 55433450 + Missense_Mutation SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:55433450G>T ENST00000314259.3 + 1 837 c.808G>T c.(808-810)Gct>Tct p.A270S NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A270S(1) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 CAAGGCAATGGCTGTGTCAGA 0.463000 15 9 1.3612e-06 1.38514e-06 1 1 0 INHA 3623 broad.mit.edu 37 2 220439960 220439960 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:220439960C>T ENST00000243786.2 + 2 993 c.813C>T c.(811-813)ttC>ttT p.F271F NM_002191.3 NP_002182.1 P05111 INHA_HUMAN inhibin, alpha 271 cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development inhibin A complex|inhibin-betaglycan-ActRII complex cytokine activity|growth factor activity|hormone activity|signal transducer activity p.F271F(1) large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 Renal(207;0.0183) Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) ACATCTCCTTCCAGGAGCTGG 0.607000 27 66 0 0 1 0 0 NUP160 23279 broad.mit.edu 37 11 47806511 47806511 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:47806511C>G ENST00000378460.2 - 33 3999 c.3953G>C c.(3952-3954)gGa>gCa p.G1318A NUP160_ENST00000530326.1_Missense_Mutation_p.G1204A NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa 1318 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding p.G1318A(1) NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 CAGAGGCACTCCATGAGACAA 0.398000 75 54 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61611504 61611504 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:61611504C>T ENST00000583023.1 + 5 944 c.933C>T c.(931-933)ttC>ttT p.F311F KCNH6_ENST00000581784.1_Silent_p.F311F|KCNH6_ENST00000456941.2_Silent_p.F311F|KCNH6_ENST00000314672.5_Silent_p.F311F|KCNH6_ENST00000580652.1_Silent_p.F311F NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 311 regulation of transcription, DNA-dependent|signal transduction p.F311F(1) breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) ACATCATGTTCGTCGTGGACA 0.587000 24 353 0 0 1 0 0 FLT3 2322 broad.mit.edu 37 13 28589746 28589746 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr13:28589746C>T ENST00000380982.4 - 21 2724 c.2643G>A c.(2641-2643)ctG>ctA p.L881L FLT3_ENST00000241453.7_Silent_p.L878L|FLT3_ENST00000537084.1_Silent_p.L837L P36888 FLT3_HUMAN fms-related tyrosine kinase 3 878 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity p.L878L(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) AGATTTCCCACAGTAATATTC 0.552000 """Mis, O""" """AML, ALL""" 14 93 0 0 1 0 0 INO80D 54891 broad.mit.edu 37 2 206872011 206872011 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:206872011C>T ENST00000403263.1 - 10 2319 c.1915G>A c.(1915-1917)Gaa>Aaa p.E639K NM_017759.4 NP_060229.3 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 639 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.E639K(1)|p.E534K(1) NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 26 ACTATACCTTCAAAAAAATCA 0.348000 19 41 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101375138 101375138 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:101375138C>G ENST00000344327.3 - 2 986 c.562G>C c.(562-564)Gaa>Caa p.E188Q TRPC6_ENST00000360497.4_Missense_Mutation_p.E188Q|TRPC6_ENST00000532133.1_Missense_Mutation_p.E188Q|TRPC6_ENST00000348423.4_Missense_Mutation_p.E188Q NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 188 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding p.E188Q(1) 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) CTCTTGCCTTCAGCAAAAGCC 0.458000 16 11 0 0 1 0 0 WDR62 284403 broad.mit.edu 37 19 36562497 36562497 + Missense_Mutation SNP A A G rs146229976 byFrequency TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:36562497A>G ENST00000401500.2 + 8 957 c.922A>G c.(922-924)Atc>Gtc p.I308V WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000388999.3_Missense_Mutation_p.I308V|WDR62_ENST00000270301.7_Missense_Mutation_p.I308V NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 308 cerebral cortex development nucleus p.I308V(1) cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CCAGGAGCTCATCTTCTGTGG 0.592000 7 168 0 0 1 0 0 OR6C6 283365 broad.mit.edu 37 12 55688666 55688666 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:55688666G>A ENST00000358433.2 - 1 350 c.351C>T c.(349-351)tcC>tcT p.S117S NM_001005493.1 NP_001005493.1 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, member 6 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S117S(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 AGCGGTCATAGGACATGGCAG 0.403000 6 11 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126337752 126337752 + Silent SNP C C A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr4:126337752C>A ENST00000394329.3 + 6 7006 c.6993C>A c.(6991-6993)gtC>gtA p.V2331V FAT4_ENST00000335110.5_Silent_p.V629V NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2331 Cadherin 22. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.V2331V(2) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AGCGCTTTGTCTTAATGATTA 0.443000 8 33 0.27861 0.27861 1 1 0 UBB 7314 broad.mit.edu 37 17 16285788 16285788 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:16285788C>T ENST00000302182.3 + 2 959 c.567C>T c.(565-567)ccC>ccT p.P189P UBB_ENST00000395839.1_Silent_p.P189P|UBB_ENST00000395837.1_Silent_p.P189P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Silent_p.P113P|UBB_ENST00000578649.1_3'UTR NM_001281720.1|NM_018955.3 NP_001268649.1|NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 189 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.P189P(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AAGGCATCCCCCCCGACCAGC 0.552000 3 65 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138645821 138645821 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr9:138645821C>T ENST00000298480.5 + 5 547 c.473C>T c.(472-474)tCg>tTg p.S158L KCNT1_ENST00000491806.2_Missense_Mutation_p.S125L|KCNT1_ENST00000486577.2_Missense_Mutation_p.S119L|KCNT1_ENST00000263604.3_Missense_Mutation_p.S139L|KCNT1_ENST00000371757.2_Missense_Mutation_p.S158L|KCNT1_ENST00000487664.1_Missense_Mutation_p.S110L|KCNT1_ENST00000490355.2_Missense_Mutation_p.S139L|KCNT1_ENST00000488444.2_Missense_Mutation_p.S139L B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 158 membrane binding|calcium-activated potassium channel activity p.S158L(1)|p.S158*(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) TTCAATGACTCGTCCTCCGAG 0.622000 29 66 0 0 1 0 0 SUV420H1 51111 broad.mit.edu 37 11 67926623 67926623 + Missense_Mutation SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:67926623G>T ENST00000304363.4 - 11 1543 c.1190C>A c.(1189-1191)tCt>tAt p.S397Y NM_017635.3 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 (Drosophila) 397 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding p.S397Y(1) NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 GCCAACTGAAGATTTTCGGTT 0.403000 21 51 2.89027e-11 2.99376e-11 1 1 0 PTPN9 5780 broad.mit.edu 37 15 75798059 75798059 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr15:75798059C>G ENST00000306726.2 - 7 1437 c.925G>C c.(925-927)Gac>Cac p.D309H PTPN9_ENST00000564970.1_5'UTR NM_002833.2 NP_002824.1 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 9 309 Tyrosine-protein phosphatase. cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding p.D309H(1) central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CGACGAATGTCTTCATATTCC 0.473000 110 209 0 0 1 0 0 ACTN4 81 broad.mit.edu 37 19 39220017 39220017 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:39220017G>A ENST00000252699.2 + 21 2757 c.2681G>A c.(2680-2682)gGt>gAt p.G894D ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000424234.2_Missense_Mutation_p.G504D|ACTN4_ENST00000390009.3_Missense_Mutation_p.G675D NM_004924.4 NP_004915.2 O43707 ACTN4_HUMAN actinin, alpha 4 894 platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity p.G894D(1) NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3) 30 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GCCGTGCCCGGTGCCCTCGAC 0.672000 10 39 0 0 1 0 0 NPFFR2 10886 broad.mit.edu 37 4 73013407 73013407 + Nonsense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr4:73013407C>T ENST00000308744.6 + 4 1545 c.1447C>T c.(1447-1449)Cag>Tag p.Q483* NPFFR2_ENST00000358749.3_Nonsense_Mutation_p.Q381*|NPFFR2_ENST00000395999.1_Nonsense_Mutation_p.Q384*|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 483 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity p.Q483*(1) NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) TCAGCTTGTCCAGGAATCTAC 0.403000 14 31 0 0 1 0 0 TTC30A 92104 broad.mit.edu 37 2 178483399 178483399 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:178483399C>T ENST00000355689.5 - 1 295 c.31G>A c.(31-33)Gac>Aac p.D11N NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A cell projection organization cilium binding p.D11N(1) autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) AACTCCCCGTCGGGGATCTGC 0.667000 3 8 0 0 1 0 0 C1QTNF3 114899 broad.mit.edu 37 5 34043213 34043213 + Silent SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:34043213G>T ENST00000382065.3 - 1 724 c.18C>A c.(16-18)ctC>ctA p.L6L C1QTNF3_ENST00000231338.7_Silent_p.L6L|RP11-1084J3.4_ENST00000382079.3_Intron NM_181435.5 NP_852100.3 Q9BXJ4 C1QT3_HUMAN C1q and tumor necrosis factor related protein 3 0 collagen p.L6L(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1) 17 all_lung(31;0.0207) GCCAATAGATGAGCTGCCTCC 0.507000 11 36 3.86212e-05 3.9202e-05 1 1 0 XPNPEP3 63929 broad.mit.edu 37 22 41322359 41322359 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr22:41322359C>G ENST00000357137.4 + 10 1528 c.1444C>G c.(1444-1446)Cag>Gag p.Q482E XPNPEP3_ENST00000544094.1_Missense_Mutation_p.Q459E NM_022098.3 NP_071381.1 Q9NQH7 XPP3_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 3, putative 482 cellular process mitochondrion aminopeptidase activity|manganese ion binding|metallopeptidase activity p.Q482E(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 17 AGTGGTGACTCAGGACTCACC 0.473000 59 120 0 0 1 0 0 PCDH19 57526 broad.mit.edu 37 X 99663458 99663458 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chrX:99663458C>T ENST00000373034.4 - 1 1813 c.138G>A c.(136-138)gcG>gcA p.A46A PCDH19_ENST00000420881.2_Silent_p.A46A|PCDH19_ENST00000255531.7_Silent_p.A46A NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 46 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A46A(1) breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 CCGCCTCTCGCGCGTCTTTGG 0.632000 8 8 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34012014 34012014 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr21:34012014C>T ENST00000382499.2 - 30 3780 c.3781G>A c.(3781-3783)Gaa>Aaa p.E1261K SYNJ1_ENST00000433931.2_Missense_Mutation_p.E1261K|SYNJ1_ENST00000357345.3_Missense_Mutation_p.E1206K|SYNJ1_ENST00000382491.3_Missense_Mutation_p.E1175K|SYNJ1_ENST00000322229.7_Missense_Mutation_p.E1222K NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 1222 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding p.E1222K(1) breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 CTTTGGCTTTCAGGAGTCAGT 0.522000 21 54 0 0 1 0 0 DAGLB 221955 broad.mit.edu 37 7 6476128 6476128 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:6476128G>C ENST00000297056.6 - 3 453 c.284C>G c.(283-285)tCt>tGt p.S95C DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000428902.2_Intron|DAGLB_ENST00000436575.1_Missense_Mutation_p.S54C|DAGLB_ENST00000425398.2_Missense_Mutation_p.S95C|DAGLB_ENST00000479922.2_5'UTR NM_139179.3 NP_631918.3 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta 95 lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity p.S95C(1) breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2) 26 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) AAGCAGCTTAGACATAGACTT 0.517000 104 90 0 0 1 0 0 ZP4 57829 broad.mit.edu 37 1 238048519 238048519 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:238048519G>A ENST00000366570.4 - 9 1415 c.1257C>T c.(1255-1257)atC>atT p.I419I RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 419 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity p.I419I(1) breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TGAAGGTGAAGATGCTGAAGC 0.547000 42 18 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196605504 196605504 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:196605504C>G ENST00000312428.6 - 64 11954 c.11854G>C c.(11854-11856)Gat>Cat p.D3952H DNAH7_ENST00000409063.1_Missense_Mutation_p.D435H|DNAH7_ENST00000484183.1_5'UTR NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3952 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.D3952H(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GGCACTGTATCATAAAGAATT 0.289000 18 55 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24833013 24833013 + Missense_Mutation SNP A A C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr10:24833013A>C ENST00000376451.2 + 14 4123 c.3863A>C c.(3862-3864)tAt>tCt p.Y1288S KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.Y1605S|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376462.1_Intron Q5T5P2 SKT_HUMAN KIAA1217 1605 embryonic skeletal system development cytoplasm p.Y1605S(1) breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GTGGTAGTCTATGAAGAAGAG 0.468000 40 80 0 0 1 0 0 MIF 4282 broad.mit.edu 37 22 24236667 24236667 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr22:24236667G>A ENST00000215754.7 + 1 477 c.6G>A c.(4-6)ccG>ccA p.P2P AP000350.4_ENST00000406213.1_3'UTR|AP000350.10_ENST00000433835.3_Intron NM_002415.1 NP_002406.1 P14174 MIF_HUMAN macrophage migration inhibitory factor (glycosylation-inhibiting factor) 2 cell proliferation|cell surface receptor linked signaling pathway|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of cell aging|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of gene expression|positive regulation of B cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase A signaling cascade|prostaglandin biosynthetic process|protein homotrimerization|regulation of macrophage activation cell surface|cytoplasm|extracellular space cell surface binding|chemoattractant activity|cytokine activity|cytokine receptor binding|dopachrome isomerase activity|phenylpyruvate tautomerase activity p.P2P(1) urinary_tract(1) 1 CCATCATGCCGATGTTCATCG 0.687000 30 29 0 0 1 0 0 RASA4 10156 broad.mit.edu 37 7 102246348 102246348 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:102246348C>T ENST00000262940.7 - 5 452 c.385G>A c.(385-387)Ggg>Agg p.G129R RASA4_ENST00000462172.1_Missense_Mutation_p.G57R|RASA4_ENST00000461209.1_Missense_Mutation_p.G57R|RP11-514P8.6_ENST00000519541.1_3'UTR|RASA4_ENST00000449970.2_Missense_Mutation_p.G129R NM_006989.5 NP_008920.5 O43374 RASL2_HUMAN RAS p21 protein activator 4 129 C2 2. intracellular signal transduction|negative regulation of Ras protein signal transduction cytosol|intrinsic to internal side of plasma membrane metal ion binding|Ras GTPase activator activity p.G129R(2) lung(1)|prostate(1)|urinary_tract(1) 3 GCCCGGGCCCCTGGCCACACT 0.687000 3 4 0 0 1 0 0 OR4D6 219983 broad.mit.edu 37 11 59224919 59224919 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:59224919G>A ENST00000300127.2 + 1 509 c.486G>A c.(484-486)ctG>ctA p.L162L NM_001004708.1 NP_001004708.1 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, member 6 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L162L(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 AGGTAATTCTGATGCTTCCAT 0.517000 44 78 0 0 1 0 0 TTC6 319089 broad.mit.edu 37 14 38311413 38311413 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr14:38311413C>T ENST00000553443.1 + 31 5578 c.5578C>T c.(5578-5580)Cgt>Tgt p.R1860C TTC6_ENST00000476979.1_Missense_Mutation_p.R494C|TTC6_ENST00000382320.3_3'UTR|TTC6_ENST00000267368.7_Missense_Mutation_p.R494C tetratricopeptide repeat domain 6 p.R1860C(1)|p.R494C(1) central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 14 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176) GBM - Glioblastoma multiforme(112;0.00551) AGCAAAAGTTCGTGGTAAAAT 0.348000 22 36 0 0 1 0 0 GSE1 23199 broad.mit.edu 37 16 85701811 85701811 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:85701811C>G ENST00000253458.7 + 14 3372 c.3196C>G c.(3196-3198)Cct>Gct p.P1066A GSE1_ENST00000393243.1_Missense_Mutation_p.P993A|GSE1_ENST00000405402.2_Missense_Mutation_p.P962A NM_014615.2 NP_055430.1 Gse1 coiled-coil protein p.P1066A(1) CTACAACATTCCTGAGCTGCA 0.637000 43 109 0 0 1 0 0 STK11IP 114790 broad.mit.edu 37 2 220466159 220466159 + Silent SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:220466159C>G ENST00000456909.1 + 3 354 c.264C>G c.(262-264)ctC>ctG p.L88L STK11IP_ENST00000295641.10_Silent_p.L99L|STK11IP_ENST00000459692.1_3'UTR Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 99 protein localization cytoplasm protein kinase binding p.L88L(1)|p.L99L(1)|p.L96L(1) breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CACTTTCACTCAAGGTTCTGG 0.542000 14 31 0 0 1 0 0 TUBBP5 643224 broad.mit.edu 37 9 141070139 141070139 + RNA SNP C C T rs143443709 by1000genomes TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr9:141070139C>T ENST00000503395.1 + 0 1219 p.L85F(2) CGGGCAGGTCCTCAGGCCAGA 0.667000 6 38 0 0 1 0 0 ACN9 57001 broad.mit.edu 37 7 96747140 96747140 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:96747140G>A ENST00000432641.2 + 1 1239 c.105G>A c.(103-105)gtG>gtA p.V35V ACN9_ENST00000360382.4_Silent_p.V35V NM_020186.2 NP_064571.1 Q9NRP4 ACN9_HUMAN ACN9 homolog (S. cerevisiae) 35 regulation of gluconeogenesis mitochondrial intermembrane space p.V35V(1) large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3) 10 all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159) ACCAGTACGTGAAAGACGAAT 0.567000 20 55 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41565561 41565561 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr22:41565561G>C ENST00000263253.7 + 26 5446 c.4227G>C c.(4225-4227)ttG>ttC p.L1409F RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1409 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.L1409F(1) NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CTAAATGCTTGAGGACTGCAG 0.323000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 8 119 0 0 1 0 0 RUFY1 80230 broad.mit.edu 37 5 179023597 179023597 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:179023597G>A ENST00000319449.4 + 13 1558 c.1546G>A c.(1546-1548)Gag>Aag p.E516K RP11-1379J22.2_ENST00000500262.1_RNA|RUFY1_ENST00000393438.2_Missense_Mutation_p.E408K|RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000437570.2_Missense_Mutation_p.E408K NM_025158.4 NP_079434.3 Q96T51 RUFY1_HUMAN RUN and FYVE domain containing 1 516 endocytosis|protein transport early endosome membrane lipid binding|zinc ion binding p.E408K(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195) all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCAGGGGGCTGAGGAGCGGAG 0.617000 HNSCC(44;0.11) 48 123 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80053331 80053331 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:80053331G>A ENST00000306749.2 - 3 363 c.145C>T c.(145-147)Cgg>Tgg p.R49W NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 49 Beta-ketoacyl synthase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding p.R49W(1) central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CCGGACCGCCGGGGCAGGCCG 0.652000 32 29 0 0 1 0 0 SLC36A3 285641 broad.mit.edu 37 5 150666828 150666828 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:150666828C>T ENST00000335230.3 - 6 1098 c.687G>A c.(685-687)ctG>ctA p.L229L SLC36A3_ENST00000377713.3_Silent_p.L270L NM_181774.3 NP_861439.3 Q495N2 S36A3_HUMAN solute carrier family 36, member 3 229 integral to membrane p.L229L(1) 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) ACTCAAAGATCAGAGCCATGC 0.517000 17 40 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119750864 119750864 + Missense_Mutation SNP A A G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:119750864A>G ENST00000541757.1 + 17 1563 c.1183A>G c.(1183-1185)Aaa>Gaa p.K395E MARCO_ENST00000327097.4_Missense_Mutation_p.K473E Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 473 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity p.K473E(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 GGCCCTGTACAAAGTGGGAGC 0.557000 53 78 0 0 1 0 0 GGT3P 2679 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 4 34 0 0 1 0 0 AMY2A 279 broad.mit.edu 37 1 104160582 104160582 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:104160582C>T ENST00000414303.2 + 2 239 c.175C>T c.(175-177)Cca>Tca p.P59S NM_000699.2 NP_000690.1 P04746 AMYP_HUMAN amylase, alpha 2A (pancreatic) 59 carbohydrate catabolic process|polysaccharide digestion extracellular space alpha-amylase activity|calcium ion binding|chloride ion binding p.P59S(1) endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085) GTAGGTCTCTCCACCAAATGA 0.333000 10 45 0 0 1 0 0 IL17RC 84818 broad.mit.edu 37 3 9965627 9965627 + Nonsense_Mutation SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:9965627G>T ENST00000295981.3 + 8 1116 c.898G>T c.(898-900)Gag>Tag p.E300* IL17RC_ENST00000383812.4_Nonsense_Mutation_p.E214*|IL17RC_ENST00000403601.3_Nonsense_Mutation_p.E229*|IL17RC_ENST00000455057.1_Nonsense_Mutation_p.E214*|IL17RC_ENST00000416074.2_Nonsense_Mutation_p.E85*|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000413608.1_Nonsense_Mutation_p.E229* NM_153461.3 NP_703191 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C 300 integral to membrane|plasma membrane receptor activity p.E300*(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GAATGTCTCTGAGGAGCAGCA 0.592000 96 79 4.81362e-53 5.14384e-53 1 1 0 MMP15 4324 broad.mit.edu 37 16 58071406 58071406 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:58071406C>G ENST00000219271.3 + 2 978 c.193C>G c.(193-195)Cag>Gag p.Q65E NM_002428.2 NP_002419.1 P51511 MMP15_HUMAN matrix metallopeptidase 15 (membrane-inserted) 65 protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding p.Q65E(1) breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 18 CTACCTGCCTCAGCCCAGCCG 0.607000 7 15 0 0 1 0 0 CCDC73 493860 broad.mit.edu 37 11 32624470 32624470 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:32624470G>C ENST00000335185.5 - 18 3170 c.3127C>G c.(3127-3129)Ctc>Gtc p.L1043V EIF3M_ENST00000531120.1_3'UTR NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 1043 p.L1043V(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) TTCGTAATGAGGCTCTGCCAG 0.368000 48 38 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72923775 72923775 + Silent SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:72923775G>C ENST00000268489.5 - 4 3975 c.3303C>G c.(3301-3303)ctC>ctG p.L1101L ZFHX3_ENST00000397992.5_Silent_p.L187L NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1101 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.L1101L(1) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GGATGAGGTTGAGCTTGGCCT 0.572000 12 119 0 0 1 0 0 AZI1 22994 broad.mit.edu 37 17 79165121 79165121 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:79165121C>T ENST00000269392.4 - 22 2893 c.2646G>A c.(2644-2646)ctG>ctA p.L882L AZI1_ENST00000450824.2_Silent_p.L879L|AZI1_ENST00000374782.3_Silent_p.L843L|AZI1_ENST00000575907.1_Silent_p.L846L NM_014984.2 NP_055799.2 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 882 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle p.L843L(1)|p.L879L(1) breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5) 36 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) GTTCCCGGTTCAGCAGCCACG 0.701000 23 77 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124335198 124335198 + Missense_Mutation SNP C C A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:124335198C>A ENST00000287394.5 - 27 4218 c.4111G>T c.(4111-4113)Gat>Tat p.D1371Y ATAD2_ENST00000521903.1_Missense_Mutation_p.D689Y NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 1371 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity p.D1371Y(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GATGTTTTATCATGGTCCTTG 0.333000 61 116 4.57574e-12 4.75173e-12 1 1 0 FOXM1 2305 broad.mit.edu 37 12 2975580 2975580 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:2975580C>G ENST00000342628.2 - 5 1067 c.954G>C c.(952-954)ttG>ttC p.L318F FOXM1_ENST00000359843.3_Missense_Mutation_p.L318F|FOXM1_ENST00000361953.3_Missense_Mutation_p.L318F|FOXM1_ENST00000537018.1_5'UTR NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 318 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding p.L318F(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) GGTCCAATGTCAAGTAGCGGT 0.507000 25 76 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91603155 91603155 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:91603155C>T ENST00000359028.2 + 3 440 c.215C>T c.(214-216)tCa>tTa p.S72L AKAP9_ENST00000358100.2_Missense_Mutation_p.S72L|AKAP9_ENST00000356239.3_Missense_Mutation_p.S60L|AKAP9_ENST00000394564.1_Missense_Mutation_p.S60L Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 72 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding p.S72L(1)|p.S60L(1) NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ATTGATCAATCACAGTGTAAT 0.363000 T BRAF papillary thyroid 21 35 0 0 1 0 0 UBE3B 89910 broad.mit.edu 37 12 109971290 109971290 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:109971290G>A ENST00000342494.3 + 27 3537 c.2942G>A c.(2941-2943)aGa>aAa p.R981K UBE3B_ENST00000535089.1_Missense_Mutation_p.R68K|UBE3B_ENST00000434735.2_Missense_Mutation_p.R981K NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 981 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity p.R981K(1) NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 AGCTGCTCCAGACCCCCGCTC 0.642000 58 142 0 0 1 0 0 FBXO42 54455 broad.mit.edu 37 1 16577222 16577222 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:16577222C>G ENST00000375592.3 - 10 2313 c.2097G>C c.(2095-2097)caG>caC p.Q699H NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 699 p.Q699H(1) 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) ACTTCACATTCTGTTTCTTGT 0.428000 143 177 0 0 1 0 0 ZC4H2 55906 broad.mit.edu 37 X 64139077 64139077 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chrX:64139077C>T ENST00000545618.1 - 5 954 c.391G>A c.(391-393)Gag>Aag p.E131K ZC4H2_ENST00000374839.3_Missense_Mutation_p.E136K|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Missense_Mutation_p.E113K|ZC4H2_ENST00000447788.2_Intron Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing 136 metal ion binding|protein binding p.E136K(1) endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 TTCTGCTTCTCAAAGTAACTT 0.532000 22 9 0 0 1 0 0 BTN2A1 11120 broad.mit.edu 37 6 26459787 26459787 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:26459787C>T ENST00000429381.1 + 3 373 c.161C>T c.(160-162)tCa>tTa p.S54L BTN2A1_ENST00000469185.1_Missense_Mutation_p.S54L|BTN2A1_ENST00000312541.5_Missense_Mutation_p.S54L|BTN2A1_ENST00000541522.1_5'UTR Q7KYR7 BT2A1_HUMAN butyrophilin, subfamily 2, member A1 54 Ig-like V-type. lipid metabolic process integral to plasma membrane p.S54L(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3) 27 TGCCATCTGTCACCCGAGAAA 0.532000 13 65 0 0 1 0 0 GATAD2B 57459 broad.mit.edu 37 1 153800712 153800712 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:153800712C>T ENST00000368655.4 - 2 355 c.112G>A c.(112-114)Gag>Aag p.E38K NM_020699.2 NP_065750.1 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 38 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E38K(1) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 38 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TCCATGGCCTCATGCCCCTCC 0.502000 200 330 0 0 1 0 0 NSMCE2 286053 broad.mit.edu 37 8 126114679 126114679 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:126114679C>G ENST00000287437.3 + 3 323 c.107C>G c.(106-108)tCt>tGt p.S36C NSMCE2_ENST00000522563.1_Missense_Mutation_p.S36C NM_173685.2 NP_775956.1 Q96MF7 NSE2_HUMAN non-SMC element 2, MMS21 homolog (S. cerevisiae) 36 DNA recombination|DNA repair nucleus ligase activity|zinc ion binding p.S36C(1) breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2) 9 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) TGTATCAACTCTGGTATGGAC 0.418000 20 138 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26422680 26422680 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr22:26422680C>T ENST00000335473.7 + 43 6990 c.6740C>T c.(6739-6741)tCa>tTa p.S2247L MYO18B_ENST00000536101.1_Missense_Mutation_p.S2247L|MYO18B_ENST00000407587.2_Missense_Mutation_p.S2248L NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2247 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity p.S2248L(1) 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 CCCAGTCCTTCAGCGGCCCTC 0.602000 4 27 0 0 1 0 0 ZNF555 148254 broad.mit.edu 37 19 2853300 2853300 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:2853300G>A ENST00000334241.4 + 4 1375 c.1237G>A c.(1237-1239)Gga>Aga p.G413R ZNF555_ENST00000591539.1_Missense_Mutation_p.G412R|AC006130.3_ENST00000589365.1_RNA NM_001172775.1|NM_152791.4 NP_001166246.1|NP_690004.4 Q8NEP9 ZN555_HUMAN zinc finger protein 555 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G413R(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4) 23 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) CTCCTTTCGAGGACACATGAG 0.473000 4 62 0 0 1 0 0 RASA4B 100271927 broad.mit.edu 37 7 102136604 102136604 + Missense_Mutation SNP C C T rs746316 TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:102136604C>T ENST00000465829.1 - 11 1124 c.1054G>A c.(1054-1056)Gtg>Atg p.V352M RP11-514P8.8_ENST00000481893.1_RNA|RASA4B_ENST00000306682.6_Missense_Mutation_p.V280M|RASA4B_ENST00000541662.1_Missense_Mutation_p.V352M RAS p21 protein activator 4B p.V352M(1) skin(1) 1 AAAGACTCCACGGACTTTGAG 0.542000 4 90 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10078013 10078013 + Missense_Mutation SNP T T G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:10078013T>G ENST00000287647.3 + 7 574 c.481T>G c.(481-483)Ttt>Gtt p.F161V FANCD2_ENST00000419585.1_Missense_Mutation_p.F161V|FANCD2_ENST00000431693.1_Missense_Mutation_p.F161V|FANCD2_ENST00000383807.1_Missense_Mutation_p.F161V|FANCD2_ENST00000383806.1_Missense_Mutation_p.F161V|FANCD2_ENST00000438741.1_3'UTR NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 161 Interaction with FANCE. DNA repair|response to gamma radiation nucleoplasm protein binding p.F161V(2) NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) GCCAGAATATTTTTTTGAAAA 0.333000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 20 93 0 0 1 0 0 RTEL1 51750 broad.mit.edu 37 20 62324319 62324319 + Silent SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr20:62324319C>G ENST00000318100.4 + 29 3641 c.2814C>G c.(2812-2814)ctC>ctG p.L938L RTEL1_ENST00000370018.3_Silent_p.L938L|RTEL1_ENST00000370003.1_Silent_p.L183L|RTEL1_ENST00000360203.5_Silent_p.L938L|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.L938L|RTEL1_ENST00000508582.2_Silent_p.L962L NM_001283009.1 NP_001269938.1 Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 938 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding p.L938L(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) TCGGCCCCCTCTTTGCTGAGG 0.657000 58 186 0 0 1 0 0 OR2G6 391211 broad.mit.edu 37 1 248685406 248685406 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:248685406C>T ENST00000343414.4 + 1 491 c.459C>T c.(457-459)ctC>ctT p.L153L NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L153L(1) NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 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) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCAGCGGCCTCATCACCTCCC 0.572000 23 16 0 0 1 0 0 IQCE 23288 broad.mit.edu 37 7 2632715 2632715 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:2632715C>T ENST00000402050.2 + 15 1488 c.1304C>T c.(1303-1305)gCg>gTg p.A435V IQCE_ENST00000404984.1_Missense_Mutation_p.A384V|IQCE_ENST00000325979.7_Missense_Mutation_p.A370V|IQCE_ENST00000438376.2_Missense_Mutation_p.A419V NM_001100390.1|NM_152558.3 NP_001093860.1|NP_689771.3 Q6IPM2 IQCE_HUMAN IQ motif containing E 435 p.A435V(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) ctggagtgcgcgagggagggc 0.602000 34 159 0 0 1 0 0 HGF 3082 broad.mit.edu 37 7 81388061 81388061 + Nonsense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:81388061G>C ENST00000222390.5 - 3 540 c.314C>G c.(313-315)tCa>tGa p.S105* HGF_ENST00000444829.2_Nonsense_Mutation_p.S105*|HGF_ENST00000453411.1_Nonsense_Mutation_p.S105*|HGF_ENST00000457544.2_Nonsense_Mutation_p.S105*|HGF_ENST00000453018.1_Nonsense_Mutation_p.S2*|HGF_ENST00000354224.6_Nonsense_Mutation_p.S105*|HGF_ENST00000423064.2_Nonsense_Mutation_p.S105* NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 105 PAN. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity p.S105*(1) NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 CACTCCACTTGACATGCTATT 0.318000 11 54 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124380748 124380748 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:124380748G>A ENST00000291478.5 + 12 1387 c.1224G>A c.(1222-1224)atG>atA p.M408I KALRN_ENST00000459915.1_Missense_Mutation_p.M197I|KALRN_ENST00000360013.3_Missense_Mutation_p.M2105I|KALRN_ENST00000393496.1_Missense_Mutation_p.M446I|KALRN_ENST00000428018.2_Missense_Mutation_p.M376I NM_007064.3 NP_008995.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 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 p.M2105I(1)|p.M408I(1) 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 ATGACATGATGAATCTAGGAC 0.507000 89 116 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48517148 48517148 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr4:48517148C>T ENST00000358350.4 - 56 8438 c.7834G>A c.(7834-7836)Gaa>Aaa p.E2612K FRYL_ENST00000503238.1_Missense_Mutation_p.E2612K|FRYL_ENST00000537810.1_Missense_Mutation_p.E2612K|FRYL_ENST00000264319.7_Missense_Mutation_p.E8K|FRYL_ENST00000507873.2_Missense_Mutation_p.E8K NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 2612 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding p.E2612K(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 GGGTAACTTTCAGGAGCTAGA 0.423000 23 29 0 0 1 0 0 PML 5371 broad.mit.edu 37 15 74290639 74290639 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr15:74290639G>C ENST00000565898.1 + 2 508 c.424G>C c.(424-426)Gag>Cag p.E142Q PML_ENST00000359928.4_Missense_Mutation_p.E142Q|PML_ENST00000569477.1_Missense_Mutation_p.E142Q|PML_ENST00000435786.2_Missense_Mutation_p.E142Q|PML_ENST00000436891.3_Missense_Mutation_p.E142Q|PML_ENST00000395135.3_Missense_Mutation_p.E142Q|PML_ENST00000395132.2_Missense_Mutation_p.E142Q|PML_ENST00000354026.6_Missense_Mutation_p.E142Q|PML_ENST00000268059.6_Missense_Mutation_p.E142Q|PML_ENST00000563500.1_Missense_Mutation_p.E142Q|PML_ENST00000564428.1_Missense_Mutation_p.E142Q|PML_ENST00000268058.3_Missense_Mutation_p.E142Q|PML_ENST00000567543.1_Missense_Mutation_p.E142Q|PML_ENST00000569965.1_Missense_Mutation_p.E142Q P29590 PML_HUMAN promyelocytic leukemia 142 cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding p.E142Q(3) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 CTGGTGCTTTGAGTGCGAGCA 0.637000 T """RARA, PAX5""" """APL, ALL""" 11 46 0 0 1 0 0 WWP1 11059 broad.mit.edu 37 8 87439902 87439902 + Missense_Mutation SNP A A T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:87439902A>T ENST00000517970.1 + 11 1495 c.1188A>T c.(1186-1188)agA>agT p.R396S WWP1_ENST00000349423.2_Missense_Mutation_p.R178S|WWP1_ENST00000265428.4_Missense_Mutation_p.R396S|WWP1_ENST00000341922.2_Missense_Mutation_p.R266S NM_007013.3 NP_008944.1 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 1 396 WW 2. central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.R396S(1) endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1) 31 ATCGTAGAAGAGTTTATTATG 0.373000 55 125 0 0 1 0 0 MARCH6 10299 broad.mit.edu 37 5 10391786 10391786 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:10391786G>C ENST00000274140.5 + 7 841 c.709G>C c.(709-711)Gag>Cag p.E237Q MARCH6_ENST00000449913.2_Missense_Mutation_p.E189Q|MARCH6_ENST00000503788.1_Missense_Mutation_p.E132Q NM_005885.3 NP_005876.2 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase 237 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding p.E237Q(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 ggaggacaatgaggaggaaga 0.562000 23 24 0 0 1 0 0 HHIPL2 79802 broad.mit.edu 37 1 222713588 222713588 + Missense_Mutation SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:222713588G>T ENST00000343410.6 - 4 1272 c.1214C>A c.(1213-1215)tCt>tAt p.S405Y NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 405 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding p.S405Y(1) 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) CCCTGGCTCAGAAACAAATGG 0.587000 77 35 1.00246e-47 1.06842e-47 1 1 0 RPGRIP1 57096 broad.mit.edu 37 14 21762864 21762864 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr14:21762864G>C ENST00000206660.6 + 2 114 c.114G>C c.(112-114)ttG>ttC p.L38F RPGRIP1_ENST00000556336.1_Missense_Mutation_p.L38F|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.L38F|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.L38F Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 38 response to stimulus|visual perception cilium p.L38F(1) breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) AACCACCCTTGAGCAGGATGA 0.413000 25 38 0 0 1 0 0 ZNF519 162655 broad.mit.edu 37 18 14105771 14105771 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr18:14105771C>G ENST00000590202.1 - 3 920 c.768G>C c.(766-768)aaG>aaC p.K256N ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron NM_145287.3 NP_660330.2 Q8TB69 ZN519_HUMAN zinc finger protein 519 256 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K256N(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 18 TGTTAATTATCTTATGTCCCT 0.328000 15 10 0 0 1 0 0 CCDC144B 284047 broad.mit.edu 37 17 18498091 18498091 + RNA SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:18498091G>A ENST00000442583.1 - 0 867 NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 36 TAAACAGAGTGAGACAATTCA 0.373000 6 50 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128839644 128839644 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:128839644C>T ENST00000310343.9 - 22 5421 c.5422G>A c.(5422-5424)Gaa>Aaa p.E1808K ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E1459K|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E1459K NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1808 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 p.E1459K(1)|p.E1808K(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 TCCTTTCCTTCTGCCACTGAG 0.567000 61 32 0 0 1 0 0 SIX4 51804 broad.mit.edu 37 14 61190738 61190738 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr14:61190738C>G ENST00000216513.4 - 1 114 c.55G>C c.(55-57)Gag>Cag p.E19Q NM_017420.4 NP_059116.3 Q9UIU6 SIX4_HUMAN SIX homeobox 4 19 nucleus p.E19Q(1) breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 OV - Ovarian serous cystadenocarcinoma(108;0.0275) ATCCCATTCTCTTGCTTGATG 0.622000 41 62 0 0 1 0 0 GPRC5D 55507 broad.mit.edu 37 12 13103173 13103173 + Missense_Mutation SNP C C T rs141265402 TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:13103173C>T ENST00000228887.1 - 1 145 c.146G>A c.(145-147)cGa>cAa p.R49Q RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000540198.1_RNA|GPRC5D_ENST00000396333.3_Missense_Mutation_p.R49Q|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA NM_018654.1 NP_061124.1 Q9NZD1 GPC5D_HUMAN G protein-coupled receptor, family C, group 5, member D 49 integral to membrane|plasma membrane G-protein coupled receptor activity p.R49Q(1)|p.R49L(1) kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) TTGGATCTTTCGCATGAGGAA 0.552000 37 34 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106082551 106082551 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chrX:106082551C>T ENST00000357242.5 + 8 1391 c.1217C>T c.(1216-1218)tCt>tTt p.S406F TBC1D8B_ENST00000310452.2_Missense_Mutation_p.S406F|TBC1D8B_ENST00000276175.3_Intron NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 406 intracellular calcium ion binding|Rab GTPase activator activity p.S406F(2) NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GCTATTAGTTCTGAGTCTACA 0.348000 18 22 0 0 1 0 0 ZNF786 136051 broad.mit.edu 37 7 148769075 148769075 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:148769075C>T ENST00000316286.9 - 3 803 c.531G>A c.(529-531)acG>acA p.T177T ZNF786_ENST00000451334.3_Silent_p.T226T|ZNF786_ENST00000491431.1_Silent_p.T263T Q8N393 ZN786_HUMAN zinc finger protein 786 263 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T262T(1) breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) GGCCCCTCCCCGTGTGGGCCG 0.682000 12 27 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53303274 53303274 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:53303274C>T ENST00000438150.2 - 2 2558 c.1665G>A c.(1663-1665)aaG>aaA p.K555K ZNF28_ENST00000457749.2_Silent_p.K608K|ZNF28_ENST00000414252.2_Silent_p.K555K|ZNF28_ENST00000360272.4_Silent_p.K555K P17035 ZNF28_HUMAN zinc finger protein 28 608 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K555K(2)|p.K608K(1) 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) ACTCATTACACTTGTAAGGTT 0.448000 196 98 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43484701 43484701 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:43484701G>A ENST00000395891.2 + 11 2535 c.1930G>A c.(1930-1932)Gcg>Acg p.A644T HECW1_ENST00000453890.1_Missense_Mutation_p.A644T NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity p.A623T(1)|p.A644T(1) NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 GGCCAATGGCGCGGCCCAGGA 0.711000 10 13 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137593102 137593102 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr9:137593102C>T ENST00000371817.3 + 4 991 c.577C>T c.(577-579)Cgc>Tgc p.R193C COL5A1_ENST00000464187.1_3'UTR NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 193 Laminin G-like.|TSP N-terminal. 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 p.R193C(1) 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) ATTCCTCGACCGCAGCGACCA 0.517000 25 28 0 0 1 0 0 KIAA0586 9786 broad.mit.edu 37 14 58949408 58949408 + Nonsense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr14:58949408C>G ENST00000423743.3 + 22 3248 c.2990C>G c.(2989-2991)tCa>tGa p.S997* KIAA0586_ENST00000354386.6_Nonsense_Mutation_p.S1094*|KIAA0586_ENST00000556134.1_Nonsense_Mutation_p.S1026*|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Nonsense_Mutation_p.S965* NM_001244191.1|NM_001244192.1 NP_001231120.1|NP_001231121.1 E9PGW8 E9PGW8_HUMAN KIAA0586 965 p.S965*(1)|p.S1094*(1) endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GGGGATGCTTCAACAAATGAA 0.388000 19 39 0 0 1 0 0 ZNF670 93474 broad.mit.edu 37 1 247200919 247200919 + Silent SNP C C A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:247200919C>A ENST00000366503.2 - 4 1160 c.1002G>T c.(1000-1002)gtG>gtT p.V334V NM_001204220.1|NM_033213.4 NP_001191149.1|NP_149990.1 Q9BS34 ZN670_HUMAN zinc finger protein 670 334 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V334V(1) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 17 all_cancers(71;4.01e-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;0.00427) CATAAGGTTTCACTCCAGTGT 0.408000 93 126 1.79992e-35 1.90829e-35 1 1 0 TP53 7157 broad.mit.edu 37 17 7578449 7578449 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:7578449C>T ENST00000420246.2 - 5 613 c.481G>A c.(481-483)Gcc>Acc p.A161T TP53_ENST00000455263.2_Missense_Mutation_p.A161T|TP53_ENST00000269305.4_Missense_Mutation_p.A161T|TP53_ENST00000445888.2_Missense_Mutation_p.A161T|TP53_ENST00000359597.4_Missense_Mutation_p.A161T|TP53_ENST00000413465.2_Missense_Mutation_p.A161T NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 161 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; 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.A161T(54)|p.0?(8)|p.A68T(3)|p.A29T(3)|p.A161fs*9(3)|p.R156_I162delRVRAMAI(2)|p.M160fs*10(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.R156_A161del(1)|p.V157fs*9(1)|p.A161fs*20(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.S149fs*72(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.A161S(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(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) TTGTAGATGGCCATGGCGCGG 0.632000 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) 40 39 0 0 1 0 0 TXNL1 9352 broad.mit.edu 37 18 54291545 54291545 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr18:54291545C>G ENST00000217515.6 - 3 547 c.343G>C c.(343-345)Gag>Cag p.E115Q TXNL1_ENST00000540155.1_5'UTR|TXNL1_ENST00000590954.1_Missense_Mutation_p.E115Q NM_004786.2 NP_004777.1 O43396 TXNL1_HUMAN thioredoxin-like 1 115 PITH. cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport cytoplasm electron carrier activity|protein disulfide oxidoreductase activity p.E115Q(1) endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211) TCTGTGTCCTCATTGCTTCCA 0.333000 34 143 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15794481 15794481 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:15794481C>T ENST00000550308.1 + 7 1206 c.826C>T c.(826-828)Cgc>Tgc p.R276C CYP4F12_ENST00000324632.10_Missense_Mutation_p.R276C NM_023944.3 NP_076433 cytochrome P450, family 4, subfamily F, polypeptide 12 p.R276C(2) NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) GGAGCGGCGTCGCACCCTCCC 0.532000 54 118 0 0 1 0 0 AZI1 22994 broad.mit.edu 37 17 79164797 79164797 + Silent SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:79164797C>G ENST00000269392.4 - 23 3109 c.2862G>C c.(2860-2862)ctG>ctC p.L954L AZI1_ENST00000450824.2_Silent_p.L951L|AZI1_ENST00000374782.3_Silent_p.L915L|AZI1_ENST00000575907.1_Silent_p.L918L NM_014984.2 NP_055799.2 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 954 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle p.L951L(1)|p.L915L(1) breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5) 36 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) GCTGGCCCTTCAGCTCCGAGC 0.677000 13 55 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17053637 17053637 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:17053637G>A ENST00000418129.2 + 2 2886 c.2421G>A c.(2419-2421)ctG>ctA p.L807L PLCL2_ENST00000396755.2_Silent_p.L807L|PLCL2_ENST00000432376.1_Silent_p.L807L NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 933 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.L807L(1) breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 CCACAGATCTGAGAGAAAACA 0.383000 5 25 0 0 1 0 0 CLIC6 54102 broad.mit.edu 37 21 36079652 36079652 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr21:36079652C>T ENST00000360731.3 + 3 1503 c.1503C>T c.(1501-1503)ggC>ggT p.G501G CLIC6_ENST00000349499.2_Silent_p.G483G Q96NY7 CLIC6_HUMAN chloride intracellular channel 6 501 chloride channel complex|cytoplasm|plasma membrane voltage-gated chloride channel activity p.G483G(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 GGCTGAAAGGCGTTATATTTA 0.438000 52 64 0 0 1 0 0 APOL2 23780 broad.mit.edu 37 22 36624218 36624218 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr22:36624218C>G ENST00000249066.6 - 6 722 c.246G>C c.(244-246)ttG>ttC p.L82F APOL2_ENST00000451256.2_Missense_Mutation_p.L194F|APOL2_ENST00000358502.5_Missense_Mutation_p.L82F NM_145637.1 NP_663612.1 Q9BQE5 APOL2_HUMAN apolipoprotein L, 2 82 acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development endoplasmic reticulum membrane|extracellular region high-density lipoprotein particle binding|lipid binding|receptor binding p.L82F(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2) 9 GAAACTCTTTCAAAAACCACT 0.507000 41 139 0 0 1 0 0 EDEM1 9695 broad.mit.edu 37 3 5243458 5243458 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:5243458C>T ENST00000256497.4 + 4 840 c.707C>T c.(706-708)tCt>tTt p.S236F EDEM1_ENST00000445686.1_Missense_Mutation_p.S41F NM_014674.2 NP_055489.1 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 1 236 ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding p.S236F(1) NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) AGCCTCCTTTCTGCTCACAGA 0.408000 27 106 0 0 1 0 0 EPB41L1 2036 broad.mit.edu 37 20 34797659 34797659 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr20:34797659C>G ENST00000338074.2 + 15 2079 c.1918C>G c.(1918-1920)Ctg>Gtg p.L640V EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000373941.1_Missense_Mutation_p.L640V|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000441639.1_Missense_Mutation_p.L566V|EPB41L1_ENST00000373950.2_Missense_Mutation_p.L531V|EPB41L1_ENST00000202028.5_Missense_Mutation_p.L566V NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 640 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity p.L640V(1)|p.L929V(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) CTCCCGCAGCCTGCCTGAGCT 0.612000 31 64 0 0 1 0 0 NSMCE2 286053 broad.mit.edu 37 8 126114697 126114697 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:126114697C>T ENST00000287437.3 + 3 341 c.125C>T c.(124-126)tCt>tTt p.S42F NSMCE2_ENST00000522563.1_Missense_Mutation_p.S42F NM_173685.2 NP_775956.1 Q96MF7 NSE2_HUMAN non-SMC element 2, MMS21 homolog (S. cerevisiae) 42 DNA recombination|DNA repair nucleus ligase activity|zinc ion binding p.S42F(1) breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2) 9 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) GACACAGCTTCTAGTGTTGCT 0.423000 22 141 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50546633 50546633 + Missense_Mutation SNP G G A rs147590689 TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr22:50546633G>A ENST00000262794.5 + 4 594 c.511G>A c.(511-513)Gaa>Aaa p.E171K MOV10L1_ENST00000540615.1_Missense_Mutation_p.E151K|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E171K|MOV10L1_ENST00000395858.3_Missense_Mutation_p.E171K NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 171 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding p.E151K(1)|p.E171K(1) breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) GTGGAGCAGCGAAGCCACCTC 0.602000 8 17 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50049280 50049280 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr20:50049280C>T ENST00000371564.3 - 9 2265 c.2046G>A c.(2044-2046)aaG>aaA p.K682K NFATC2_ENST00000610033.1_Silent_p.K463K|NFATC2_ENST00000609507.1_Silent_p.K463K|NFATC2_ENST00000609943.1_Silent_p.K662K|NFATC2_ENST00000414705.1_Silent_p.K662K|NFATC2_ENST00000396009.3_Silent_p.K682K NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 682 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity p.K682K(1) EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) TGGGCTCCGTCTTGATGGCTG 0.612000 18 93 0 0 1 0 0 FBXO42 54455 broad.mit.edu 37 1 16577397 16577397 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:16577397C>T ENST00000375592.3 - 10 2138 c.1922G>A c.(1921-1923)tGc>tAc p.C641Y NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 641 p.C641Y(1) 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) CATGGGCTTGCAGTTCATACT 0.512000 165 188 0 0 1 0 0 CD86 942 broad.mit.edu 37 3 121825321 121825321 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:121825321G>A ENST00000330540.2 + 4 793 c.677G>A c.(676-678)cGg>cAg p.R226Q CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.R220Q|CD86_ENST00000493101.1_Missense_Mutation_p.R114Q|CD86_ENST00000469710.1_Missense_Mutation_p.R144Q NM_175862.4 NP_787058 P42081 CD86_HUMAN CD86 molecule 226 interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding p.R226Q(1)|p.R226L(1) breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) GACAAGACGCGGCTTTTATCT 0.403000 55 66 0 0 1 0 0 C11orf85 283129 broad.mit.edu 37 11 64708119 64708119 + Splice_Site SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:64708119C>G ENST00000536065.1 - 10 1524 c.e10-1 C11orf85_ENST00000530444.1_Splice_Site|C11orf85_ENST00000301896.5_Splice_Site|C11orf85_ENST00000432175.1_Splice_Site Q3KP22 CK085_HUMAN chromosome 11 open reading frame 85 p.?(1) breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2) 7 TTTCCCTATTCTGTTAAAAAG 0.413000 64 59 0 0 1 0 0 MICAL1 64780 broad.mit.edu 37 6 109766439 109766439 + Missense_Mutation SNP C C T rs147968137 byFrequency TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:109766439C>T ENST00000368952.4 - 22 3189 c.2899G>A c.(2899-2901)Gag>Aag p.E967K MICAL1_ENST00000358577.3_Missense_Mutation_p.E862K|MICAL1_ENST00000358807.3_Missense_Mutation_p.E948K Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 948 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding p.E948K(1) NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) TTCACGCCCTCGGCCTCTAGC 0.567000 14 66 0 0 1 0 0 SSH2 85464 broad.mit.edu 37 17 27975200 27975200 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:27975200C>G ENST00000269033.3 - 13 1459 c.1308G>C c.(1306-1308)atG>atC p.M436I RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.M463I NM_001282129.1|NM_033389.2 NP_001269058.1|NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 436 Tyrosine-protein phosphatase. actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.M436I(1) SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCAGTTGTCTCATGAAGCTTG 0.458000 70 151 0 0 1 0 0 RPS27A 6233 broad.mit.edu 37 2 55461976 55461976 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:55461976C>G ENST00000272317.6 + 5 523 c.199C>G c.(199-201)Ctt>Gtt p.L67V RPS27A_ENST00000404735.1_Missense_Mutation_p.L67V|RPS27A_ENST00000402285.3_Missense_Mutation_p.L67V NM_002954.5 NP_002945.1 P62979 RS27A_HUMAN ribosomal protein S27a 67 Ubiquitin-like. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane metal ion binding|structural constituent of ribosome p.L67V(1) cervix(1)|ovary(1)|urinary_tract(1) 3 GGAGTCTACTCTTCATCTTGT 0.398000 17 81 0 0 1 0 0 PPEF2 5470 broad.mit.edu 37 4 76794444 76794444 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr4:76794444C>T ENST00000286719.7 - 12 1698 c.1342G>A c.(1342-1344)Gat>Aat p.D448N NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 448 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity p.D448N(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GCCATGGGATCACTCCACAGG 0.433000 49 81 0 0 1 0 0 HMGB4 127540 broad.mit.edu 37 1 34329950 34329950 + Nonsense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:34329950C>G ENST00000522796.1 + 4 2063 c.158C>G c.(157-159)tCa>tGa p.S53* CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000425537.1_3'UTR|HMGB4_ENST00000519684.1_Nonsense_Mutation_p.S53* B2R4X7 B2R4X7_HUMAN high mobility group box 4 53 nucleus DNA binding p.S53*(1) NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) AGATCCATCTCAAAGCATGAA 0.413000 24 115 0 0 1 0 0 MAGED2 10916 broad.mit.edu 37 X 54841756 54841756 + Nonsense_Mutation SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chrX:54841756G>T ENST00000375068.1 + 12 1695 c.1462G>T c.(1462-1464)Gag>Tag p.E488* MAGED2_ENST00000218439.4_Nonsense_Mutation_p.E488*|MAGED2_ENST00000375058.1_Nonsense_Mutation_p.E488*|MAGED2_ENST00000375053.2_Nonsense_Mutation_p.E488*|MAGED2_ENST00000375060.1_Nonsense_Mutation_p.E403*|MAGED2_ENST00000347546.4_Nonsense_Mutation_p.E470*|MAGED2_ENST00000375062.4_Nonsense_Mutation_p.E403*|MAGED2_ENST00000396224.1_Nonsense_Mutation_p.E488* Q9UNF1 MAGD2_HUMAN melanoma antigen family D, 2 488 p.E488*(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 ggctgcagctgaggctgcagc 0.557000 36 11 9.62906e-15 1.00769e-14 1 1 0 FANCA 2175 broad.mit.edu 37 16 89805349 89805349 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:89805349G>C ENST00000389301.3 - 42 4231 c.4201C>G c.(4201-4203)Ctt>Gtt p.L1401V ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Missense_Mutation_p.S1402C NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 1401 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding p.L1401V(1) breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) AGCAGAAAAAGACGAGCTTTT 0.512000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 70 63 0 0 1 0 0 GPR155 151556 broad.mit.edu 37 2 175335161 175335161 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:175335161C>G ENST00000392552.2 - 4 1221 c.983G>C c.(982-984)gGa>gCa p.G328A GPR155_ENST00000295500.4_Missense_Mutation_p.G328A|GPR155_ENST00000392551.2_Missense_Mutation_p.G328A NM_001267051.1|NM_152529.6 NP_001253980.1|NP_689742.4 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 328 intracellular signal transduction|transmembrane transport integral to membrane p.G328A(1) breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 26 GATAGCCACTCCTGGTGCTAC 0.358000 15 21 0 0 1 0 0 SLC34A1 6569 broad.mit.edu 37 5 176815096 176815096 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:176815096G>A ENST00000324417.5 + 7 837 c.746G>A c.(745-747)cGa>cAa p.R249Q SLC34A1_ENST00000512593.1_Missense_Mutation_p.R249Q NM_003052.4 NP_003043.3 Q06495 NPT2A_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 1 249 phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity p.R249Q(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CACATCACTCGACTTGTGGTG 0.592000 17 47 0 0 1 0 0 EDC4 23644 broad.mit.edu 37 16 67915727 67915727 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:67915727G>C ENST00000358933.5 + 22 3222 c.2983G>C c.(2983-2985)Gag>Cag p.E995Q NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 995 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding p.E995Q(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) ACGTGCCCTTGAGACTCGGCA 0.602000 33 101 0 0 1 0 0 HIST1H2AG 8969 broad.mit.edu 37 6 27100942 27100942 + Missense_Mutation SNP T T G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:27100942T>G ENST00000359193.2 + 1 111 c.92T>G c.(91-93)gTg>gGg p.V31G NM_021064.4 NP_066408.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2ag 31 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding p.V31G(1) biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 17 GTGGGCCGAGTGCACCGCCTG 0.677000 10 56 0 0 1 0 0 G3BP1 10146 broad.mit.edu 37 5 151179852 151179852 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:151179852C>T ENST00000394123.3 + 10 1174 c.1029C>T c.(1027-1029)ttC>ttT p.F343F G3BP1_ENST00000543466.1_Silent_p.F161F|G3BP1_ENST00000356245.3_Silent_p.F343F Q13283 G3BP1_HUMAN GTPase activating protein (SH3 domain) binding protein 1 343 RRM. Ras protein signal transduction|transport cytosol|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding p.F343F(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2) 29 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) ACCAACTCTTCATTGGCAACC 0.418000 26 53 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110829360 110829360 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr13:110829360G>A ENST00000375820.4 - 34 2862 c.2741C>T c.(2740-2742)tCa>tTa p.S914L NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 914 Triple-helical region. S -> K (in Ref. 8; AA sequence). angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding p.S914L(1)|p.S557L(1) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCTGGGTCCTGAGGAGCCCGG 0.587000 18 58 0 0 1 0 0 ADARB2 105 broad.mit.edu 37 10 1405328 1405328 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr10:1405328C>G ENST00000381312.1 - 3 1297 c.972G>C c.(970-972)aaG>aaC p.K324N NM_018702.3 NP_061172.1 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 (non-functional) 324 DRBM 2. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding p.K324N(1) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) GGGCCAGCTTCTTGCTGCGCC 0.721000 9 12 0 0 1 0 0 PVRL1 5818 broad.mit.edu 37 11 119548477 119548477 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:119548477G>A ENST00000264025.3 - 3 1051 c.521C>T c.(520-522)tCa>tTa p.S174L PVRL1_ENST00000340882.2_Missense_Mutation_p.S174L|PVRL1_ENST00000341398.2_Missense_Mutation_p.S174L|PVRL1_ENST00000524510.1_5'UTR NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 174 Ig-like C2-type 1. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity p.S174L(3) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CCCATTGGCTGAGGTGCAGGT 0.577000 36 28 0 0 1 0 0 F2RL1 2150 broad.mit.edu 37 5 76128897 76128897 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:76128897C>G ENST00000296677.4 + 2 671 c.465C>G c.(463-465)ttC>ttG p.F155L NM_005242.4 NP_005233 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 155 blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity p.F155L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 13 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) TTGGCTTTTTCTATGGCAACA 0.468000 115 294 0 0 1 0 0 TTC3 7267 broad.mit.edu 37 21 38538204 38538204 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr21:38538204C>T ENST00000399017.2 + 33 6435 c.3688C>T c.(3688-3690)Cca>Tca p.P1230S TTC3_ENST00000355666.1_Missense_Mutation_p.P1230S|TTC3_ENST00000354749.2_Missense_Mutation_p.P1230S|TTC3_ENST00000479930.1_3'UTR NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1230 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding p.P1230S(1) breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) ATCTTCAGCACCAGCTTTTGA 0.428000 7 38 0 0 1 0 0 NIFK 84365 broad.mit.edu 37 2 122486097 122486097 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:122486097C>T ENST00000285814.4 - 5 652 c.580G>A c.(580-582)Gaa>Aaa p.E194K NM_032390.4 NP_115766.3 Q9BYG3 MK67I_HUMAN 194 protein complex assembly|rRNA metabolic process|rRNA transcription condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding p.E194K(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1) 12 GAAATACTTTCCGTTTTCTGT 0.274000 14 58 0 0 1 0 0 SLC43A3 29015 broad.mit.edu 37 11 57193532 57193532 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:57193532C>T ENST00000395123.2 - 3 418 c.114G>A c.(112-114)aaG>aaA p.K38K SLC43A3_ENST00000529554.1_Silent_p.K38K|SLC43A3_ENST00000352187.1_Silent_p.K38K|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000395124.1_Silent_p.K38K|SLC43A3_ENST00000533524.1_Silent_p.K38K NM_001278201.1|NM_014096.2 NP_001265130.1|NP_054815.2 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 38 transmembrane transport integral to membrane p.K38K(2) central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 AATCTTCATTCTTGAAGACAA 0.552000 61 56 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12122972 12122972 + Missense_Mutation SNP T T A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:12122972T>A ENST00000379388.2 + 4 3276 c.2944T>A c.(2944-2946)Tgt>Agt p.C982S NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 982 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding p.C982S(1) NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GAAATTTTACTGTTCTGAGTT 0.428000 37 78 0 0 1 0 0 BPIFA3 128861 broad.mit.edu 37 20 31805357 31805357 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr20:31805357C>T ENST00000375454.3 + 1 225 c.15C>T c.(13-15)ctC>ctT p.L5L BPIFA3_ENST00000375452.3_Silent_p.L5L|BPIFA3_ENST00000490499.1_3'UTR NM_178466.3 NP_848561.2 Q9BQP9 SPLC3_HUMAN BPI fold containing family A, member 3 5 extracellular region lipid binding p.L5L(1) TGTGTCCACTCTGGAGGCTCC 0.592000 25 86 0 0 1 0 0 WDR62 284403 broad.mit.edu 37 19 36574043 36574043 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:36574043G>A ENST00000401500.2 + 11 1485 c.1450G>A c.(1450-1452)Gag>Aag p.E484K WDR62_ENST00000270301.7_Missense_Mutation_p.E484K NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 484 cerebral cortex development nucleus p.E484K(1) cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CCGGGGGAGCGAGAATGGGAC 0.597000 3 36 0 0 1 0 0 GOLGA4 2803 broad.mit.edu 37 3 37376609 37376609 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:37376609G>A ENST00000361924.2 + 17 6632 c.6258G>A c.(6256-6258)aaG>aaA p.K2086K GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Silent_p.K2108K NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 2086 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding p.K2086K(1) NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 AGCTGCAGAAGAAATACCAGC 0.398000 4 10 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124346190 124346190 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:124346190C>T ENST00000287394.5 - 24 3513 c.3406G>A c.(3406-3408)Gat>Aat p.D1136N ATAD2_ENST00000521903.1_Missense_Mutation_p.D454N NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 1136 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity p.D1136N(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GATCTTTTATCACCAACAAGA 0.413000 25 113 0 0 1 0 0 GDA 9615 broad.mit.edu 37 9 74764526 74764526 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr9:74764526C>T ENST00000358399.3 + 1 144 c.51C>T c.(49-51)ttC>ttT p.F17F GDA_ENST00000376986.1_5'UTR|GDA_ENST00000376989.3_5'UTR|GDA_ENST00000545168.1_Intron|GDA_ENST00000238018.4_Silent_p.F17F NM_001242505.2|NM_001242506.2|NM_004293.4 NP_001229434.1|NP_001229435.1|NP_004284.1 Q9Y2T3 GUAD_HUMAN guanine deaminase 17 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding p.F17F(4) central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) GAGGGACGTTCGTCCACTCCA 0.697000 6 8 0 0 1 0 0 STAU1 6780 broad.mit.edu 37 20 47734529 47734529 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr20:47734529G>C ENST00000371828.3 - 11 1556 c.1069C>G c.(1069-1071)Caa>Gaa p.Q357E STAU1_ENST00000371792.1_Missense_Mutation_p.Q349E|STAU1_ENST00000340954.7_Missense_Mutation_p.Q351E|STAU1_ENST00000360426.4_Missense_Mutation_p.Q351E|STAU1_ENST00000347458.5_Missense_Mutation_p.Q351E|STAU1_ENST00000371802.1_Missense_Mutation_p.Q357E|STAU1_ENST00000371856.2_Missense_Mutation_p.Q432E NM_001037328.1|NM_004602.2 NP_001032405.1|NP_004593.2 O95793 STAU1_HUMAN staufen double-stranded RNA binding protein 1 432 microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding p.Q432E(1) breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) TGATGTCCTTGACTAACTCCT 0.532000 55 142 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53084883 53084883 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:53084883C>T ENST00000276480.7 - 10 1221 c.538G>A c.(538-540)Gat>Aat p.D180N NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 180 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D180N(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) TGAGAATCATCAATCTTGTCT 0.428000 55 100 0 0 1 0 0 SARS2 54938 broad.mit.edu 37 19 39421110 39421110 + Splice_Site SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:39421110G>A ENST00000221431.6 - 1 426 c.267C>T c.(265-267)atC>atT p.I89I SARS2_ENST00000448145.2_Intron|SARS2_ENST00000430193.3_Splice_Site_p.I89I|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000600042.1_Splice_Site_p.I89I NM_017827.3 NP_060297.1 Q9NP81 SYSM_HUMAN seryl-tRNA synthetase 2, mitochondrial 89 seryl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|serine-tRNA ligase activity p.I89I(2) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) GCGCACTCACGATCGCGGGCA 0.662000 OREG0025455|OREG0032101 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 39 175 0 0 1 0 0 ELP2 55250 broad.mit.edu 37 18 33722264 33722264 + Silent SNP C C G rs142567516 TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr18:33722264C>G ENST00000358232.6 + 7 672 c.609C>G c.(607-609)ctC>ctG p.L203L ELP2_ENST00000350494.6_Silent_p.L242L|ELP2_ENST00000542824.1_Silent_p.L177L|ELP2_ENST00000423854.2_Intron|ELP2_ENST00000351393.6_Silent_p.L177L|ELP2_ENST00000442325.2_Silent_p.L268L NM_018255.2 NP_060725.1 Q6IA86 ELP2_HUMAN elongator acetyltransferase complex subunit 2 203 regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex p.L203L(1) NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2) 30 TGCTTTCTCTCTGTGGACATG 0.373000 16 85 0 0 1 0 0 DCST1 149095 broad.mit.edu 37 1 155020372 155020372 + Silent SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:155020372C>G ENST00000295542.1 + 15 1818 c.1722C>G c.(1720-1722)ctC>ctG p.L574L DCST1_ENST00000423025.2_Silent_p.L549L|DCST1_ENST00000392480.1_Silent_p.L574L|DCST1_ENST00000368419.2_Silent_p.L574L NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 574 integral to membrane zinc ion binding p.L574L(1) breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) GCTACCGACTCCGGAGGGTCA 0.607000 8 76 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39711890 39711890 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:39711890G>A ENST00000395670.3 - 28 4312 c.3893C>T c.(3892-3894)tCa>tTa p.S1298L KIF21A_ENST00000541463.2_Missense_Mutation_p.S1262L|KIF21A_ENST00000544797.2_Missense_Mutation_p.S1278L|KIF21A_ENST00000547745.1_Intron|KIF21A_ENST00000361961.3_Missense_Mutation_p.S1285L|KIF21A_ENST00000361418.5_Missense_Mutation_p.S1298L Q7Z4S6 KI21A_HUMAN kinesin family member 21A 1298 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.S1285L(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) CTGCTGAACTGATGTGTTTCC 0.398000 16 96 0 0 1 0 0 KRT71 112802 broad.mit.edu 37 12 52940119 52940119 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:52940119C>G ENST00000267119.5 - 7 1345 c.1276G>C c.(1276-1278)Gac>Cac p.D426H NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 426 Coil 2.|Rod. structural molecule activity p.D426H(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) ATCTCCATGTCCAGGGCCAGC 0.667000 12 86 0 0 1 0 0 C17orf85 55421 broad.mit.edu 37 17 3721711 3721711 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:3721711G>A ENST00000158149.3 - 11 1211 c.316C>T c.(316-318)Cgg>Tgg p.R106W C17orf85_ENST00000389005.4_Missense_Mutation_p.R386W Q53F19 CQ085_HUMAN chromosome 17 open reading frame 85 386 nucleotide binding p.R106W(1)|p.R386W(1) endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) GACGCGCTCCGCTCCCGGGGC 0.527000 33 93 0 0 1 0 0 NUDT17 200035 broad.mit.edu 37 1 145586854 145586854 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:145586854G>A ENST00000334513.5 - 7 845 c.834C>T c.(832-834)gtC>gtT p.V278V NM_001012758.2 NP_001012776.1 P0C025 NUD17_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 17 278 hydrolase activity|metal ion binding p.V278V(1) endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2) 9 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTCCAGTGCTGACTCTCTCTT 0.547000 294 465 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53084982 53084982 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 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 64 103 0 0 1 0 0 TEX14 56155 broad.mit.edu 37 17 56671019 56671019 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:56671019G>A ENST00000389934.3 - 15 2590 c.2473C>T c.(2473-2475)Ccg>Tcg p.P825S TEX14_ENST00000349033.5_Missense_Mutation_p.P825S|TEX14_ENST00000240361.8_Missense_Mutation_p.P831S NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 831 cytoplasm ATP binding|protein kinase activity p.P831S(1)|p.P825S(1) breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) CAAAGAGTCGGCAGCTTAAAA 0.408000 4 81 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68981310 68981310 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:68981310G>C ENST00000288368.4 + 12 1659 c.1382G>C c.(1381-1383)aGa>aCa p.R461T PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 461 DEP 1. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity p.R461T(2) 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 ATGTTATATAGATTTCGCTAT 0.348000 24 46 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135302356 135302356 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:135302356C>T ENST00000285968.6 + 27 3723 c.3697C>T c.(3697-3699)Cat>Tat p.H1233Y NM_015135.2 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1233 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding p.H1233Y(1) breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 CCAGCTTCTTCATAGGGTTCT 0.403000 14 51 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558048 140558048 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:140558048G>A ENST00000239444.2 + 1 678 c.433G>A c.(433-435)Gag>Aag p.E145K NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 145 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.E145K(1) NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAAAGTATCAGAGAGCAGTCC 0.418000 49 267 0 0 1 0 0 PIBF1 10464 broad.mit.edu 37 13 73590051 73590051 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr13:73590051G>C ENST00000326291.6 + 18 2606 c.2268G>C c.(2266-2268)aaG>aaC p.K756N PIBF1_ENST00000489922.1_3'UTR NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 756 centrosome p.K756N(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) AAAAGATGAAGACCTAGTGTT 0.348000 11 45 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37020905 37020905 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:37020905G>A ENST00000282516.8 + 27 5753 c.5254G>A c.(5254-5256)Gat>Aat p.D1752N NIPBL_ENST00000448238.2_Missense_Mutation_p.D1752N NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1752 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding p.D1752N(2) autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GGACTATGATGATGCTTGCTT 0.348000 56 208 0 0 1 0 0 ICAM1 3383 broad.mit.edu 37 19 10394842 10394842 + Missense_Mutation SNP G G C rs139628843 TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:10394842G>C ENST00000264832.3 + 4 1096 c.771G>C c.(769-771)caG>caC p.Q257H CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Missense_Mutation_p.Q35H NM_000201.2 NP_000192.2 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 257 Ig-like C2-type 3. adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity p.Q257H(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) TGGGGGACCAGAGGTTGAACC 0.657000 6 75 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170127522 170127522 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:170127522C>T ENST00000263816.3 - 16 2497 c.2212G>A c.(2212-2214)Ggg>Agg p.G738R LRP2_ENST00000443831.1_Intron NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 738 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding p.G738R(1) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GAAGGATTCCCCGAAACTGGA 0.408000 6 27 0 0 1 0 0 EHMT1 79813 broad.mit.edu 37 9 140707937 140707937 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr9:140707937C>T ENST00000460843.1 + 21 3162 c.3135C>T c.(3133-3135)tgC>tgT p.C1045C NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 1045 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding p.C1014C(1)|p.C1045C(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) CTCAGAACTGCGTGACGTCCC 0.582000 10 30 0 0 1 0 0 VPS37B 79720 broad.mit.edu 37 12 123351840 123351840 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:123351840C>T ENST00000267202.2 - 4 1062 c.681G>A c.(679-681)atG>atA p.M227I NM_024667.2 NP_078943.1 Q9H9H4 VP37B_HUMAN vacuolar protein sorting 37 homolog B (S. cerevisiae) 227 Pro-rich. cellular membrane organization|endosome transport|protein transport late endosome membrane p.M227I(1) breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1) 5 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205) GTCCCGAACTCATGGCCGCAG 0.692000 6 12 0 0 1 0 0 COPB2 9276 broad.mit.edu 37 3 139085601 139085601 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:139085601C>T ENST00000333188.5 - 15 1874 c.1693G>A c.(1693-1695)Ggc>Agc p.G565S COPB2_ENST00000507777.1_Missense_Mutation_p.G536S NM_004766.2 NP_004757.1 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta prime) 565 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity p.G565S(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 GGAATGTAGCCTAGGAGATAC 0.413000 5 26 0 0 1 0 0 ZC3H7A 29066 broad.mit.edu 37 16 11868313 11868313 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:11868313G>A ENST00000396516.2 - 8 879 c.682C>T c.(682-684)Cat>Tat p.H228Y ZC3H7A_ENST00000355758.4_Missense_Mutation_p.H228Y Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 228 nucleus nucleic acid binding|zinc ion binding p.H228Y(1) breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 CCAACTTCATGAGAAAAACTG 0.458000 48 69 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38810631 38810631 + Silent SNP T T C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:38810631T>C ENST00000359357.3 + 33 4400 c.4146T>C c.(4144-4146)ctT>ctC p.L1382L DNAH8_ENST00000449981.2_Silent_p.L1599L|DNAH8_ENST00000441566.1_Silent_p.L1382L dynein, axonemal, heavy chain 8 p.L1382L(2) 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 CTTTTTGCCTTAGAAATATCA 0.373000 6 52 0 0 1 0 0 TBCC 6903 broad.mit.edu 37 6 42712930 42712930 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:42712930C>G ENST00000244625.2 - 2 1445 c.882G>C c.(880-882)tgG>tgC p.W294C TBCC_ENST00000372876.1_Missense_Mutation_p.W294C Q15814 TBCC_HUMAN tubulin folding cofactor C 294 C-CAP/cofactor C-like. 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|photoreceptor connecting cilium chaperone binding|GTPase activity p.W294C(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3) 14 Colorectal(47;0.196) all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125) CCGGGTAGCTCCAGGTGTAAG 0.537000 48 126 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22828819 22828819 + Missense_Mutation SNP C C G rs147907060 byFrequency TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:22828819C>G ENST00000404138.1 + 6 1563 c.1052C>G c.(1051-1053)tCt>tGt p.S351C ZBTB40_ENST00000375647.4_Missense_Mutation_p.S351C|ZBTB40_ENST00000374651.4_Intron NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 351 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S351C(1) endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) AAGACCTTGTCTGTTCTGTTA 0.453000 11 17 0 0 1 0 0 LGR5 8549 broad.mit.edu 37 12 71833917 71833917 + Silent SNP G G A rs147257938 TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:71833917G>A ENST00000266674.5 + 1 368 c.57G>A c.(55-57)gcG>gcA p.A19A TSPAN8_ENST00000393330.2_Intron|LGR5_ENST00000540815.2_Silent_p.A19A|LGR5_ENST00000536515.1_Silent_p.A19A O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 19 integral to plasma membrane protein-hormone receptor activity p.A19A(1) NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 TGCAGCTGGCGACCGGGGGCA 0.682000 20 42 0 0 1 0 0 POLN 353497 broad.mit.edu 37 4 2130935 2130935 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr4:2130935G>A ENST00000511885.2 - 18 2191 c.1838C>T c.(1837-1839)tCa>tTa p.S613L POLN_ENST00000382865.1_Missense_Mutation_p.S613L Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu 613 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity p.S613L(1) kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) GCCTTTGGATGAAACAAACAT 0.398000 DNA polymerases (catalytic subunits) 22 63 0 0 1 0 0 SARNP 84324 broad.mit.edu 37 12 56188642 56188642 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:56188642C>T ENST00000444631.2 - 5 299 c.146G>A c.(145-147)cGa>cAa p.R49Q SARNP_ENST00000552080.1_Missense_Mutation_p.R109Q|SARNP_ENST00000336133.3_Missense_Mutation_p.R109Q|RP11-762I7.5_ENST00000546837.1_Silent_p.T421T SAP domain containing ribonucleoprotein p.R109Q(1) breast(1)|endometrium(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 6 TACATTGAATCGTTCAGCCCT 0.428000 11 20 0 0 1 0 0 TBCC 6903 broad.mit.edu 37 6 42713214 42713214 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:42713214C>G ENST00000244625.2 - 2 1161 c.598G>C c.(598-600)Gag>Cag p.E200Q TBCC_ENST00000372876.1_Missense_Mutation_p.E200Q Q15814 TBCC_HUMAN tubulin folding cofactor C 200 C-CAP/cofactor C-like. 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|photoreceptor connecting cilium chaperone binding|GTPase activity p.E200Q(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3) 14 Colorectal(47;0.196) all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125) TGGTGCAACTCGCTGGCTCTC 0.602000 23 34 0 0 1 0 0 PTH1R 5745 broad.mit.edu 37 3 46940250 46940250 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:46940250C>G ENST00000313049.5 + 7 940 c.737C>G c.(736-738)tCt>tGt p.S246C PTH1R_ENST00000430002.2_Missense_Mutation_p.S246C|PTH1R_ENST00000449590.1_Missense_Mutation_p.S246C|PTH1R_ENST00000418619.1_Missense_Mutation_p.S246C Q03431 PTH1R_HUMAN parathyroid hormone 1 receptor 246 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association p.S246C(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 GTGCTCTACTCTGGCGCCACG 0.677000 24 21 0 0 1 0 0 IFT27 11020 broad.mit.edu 37 22 37163891 37163891 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr22:37163891C>T ENST00000340630.5 - 2 492 c.47G>A c.(46-48)gGc>gAc p.G16D IFT27_ENST00000433985.2_Missense_Mutation_p.G17D|IFT27_ENST00000453009.2_5'UTR NM_006860.4 NP_006851.1 Q9BW83 IFT27_HUMAN intraflagellar transport 27 homolog (Chlamydomonas) 17 small GTPase mediated signal transduction intraflagellar transport particle B|microtubule-based flagellum GTP binding p.G16D(1) endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GGCGGTCTTGCCCACTGCTGG 0.507000 6 343 0 0 1 0 0 CGB7 94027 broad.mit.edu 37 19 49558233 49558233 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:49558233G>A ENST00000597853.1 - 4 2919 c.48C>T c.(46-48)ggC>ggT p.G16G CGB7_ENST00000596965.1_Silent_p.G16G|CGB7_ENST00000377280.3_Silent_p.G16G|CGB7_ENST00000356213.4_Silent_p.G14G chorionic gonadotropin, beta polypeptide 7 p.G16G(1) lung(3)|urinary_tract(2) 5 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) CCCATGTCCCGCCCATGCTCA 0.667000 61 25 0 0 1 0 0 FOCAD 54914 broad.mit.edu 37 9 20874759 20874759 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr9:20874759C>G ENST00000380249.1 + 21 2634 c.2270C>G c.(2269-2271)tCt>tGt p.S757C FOCAD_ENST00000605086.1_Missense_Mutation_p.S193C|FOCAD_ENST00000338382.6_Missense_Mutation_p.S757C|FOCAD_ENST00000604828.1_3'UTR NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 757 integral to membrane binding p.S757C(1) GTTCCTGGCTCTTGCTATCTC 0.408000 23 22 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94674863 94674863 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:94674863G>A ENST00000260526.6 - 4 566 c.384C>T c.(382-384)ctC>ctT p.L128L ARHGAP29_ENST00000370217.3_Silent_p.L128L NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 128 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity p.L128L(1) NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) CTTCCTGGAAGAGATCGTTTT 0.323000 15 31 0 0 1 0 0 IQGAP3 128239 broad.mit.edu 37 1 156497752 156497752 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:156497752G>A ENST00000361170.2 - 37 4784 c.4774C>T c.(4774-4776)Cac>Tac p.H1592Y NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1592 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity p.H1592Y(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ACCTGATAGTGAAGCTGAAAT 0.527000 50 51 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45127393 45127393 + RNA SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:45127393G>A ENST00000575173.1 - 0 418 AAAGTTATCTGAGTAGACTGA 0.463000 22 251 0 0 1 0 0 VARS2 57176 broad.mit.edu 37 6 30882669 30882669 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:30882669C>T ENST00000321897.5 + 1 688 c.56C>T c.(55-57)tCa>tTa p.S19L VARS2_ENST00000541562.1_Missense_Mutation_p.S49L|VARS2_ENST00000542001.1_Intron|VARS2_ENST00000416670.2_Missense_Mutation_p.S19L Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 19 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity p.S19L(1) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 CTGAGGCACTCACGGGGCCTC 0.572000 55 101 0 0 1 0 0 MYO1E 4643 broad.mit.edu 37 15 59502740 59502740 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr15:59502740G>A ENST00000288235.4 - 13 1734 c.1335C>T c.(1333-1335)atC>atT p.I445I NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 445 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity p.I445I(1) breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) GGTCACATACGATTTTATTAT 0.348000 19 128 0 0 1 0 0 SLC25A15 10166 broad.mit.edu 37 13 41379289 41379289 + Missense_Mutation SNP C C A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr13:41379289C>A ENST00000338625.4 + 4 586 c.350C>A c.(349-351)tCt>tAt p.S117Y SLC25A15_ENST00000478827.1_3'UTR NM_014252.3 NP_055067.1 Q9Y619 ORNT1_HUMAN solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 117 cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity p.S117Y(1) endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1) 14 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704) L-Ornithine(DB00129) TCCTTCGCCTCTGCCTTTGCT 0.552000 31 36 9.57592e-29 1.0126e-28 1 1 0 TMEM132D 121256 broad.mit.edu 37 12 130184379 130184379 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:130184379G>C ENST00000422113.2 - 2 1270 c.944C>G c.(943-945)tCc>tGc p.S315C NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 315 integral to membrane p.S315C(1) NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) ATCTTCAGTGGAATTTCTGGA 0.493000 23 80 0 0 1 0 0 CASS4 57091 broad.mit.edu 37 20 55027048 55027048 + Silent SNP C C G rs143746875 TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr20:55027048C>G ENST00000371336.3 + 5 1017 c.816C>G c.(814-816)ctC>ctG p.L272L CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Silent_p.L272L NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 272 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity p.L272L(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 CCCACGCTCTCCCCAGTTCCA 0.517000 33 49 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25886754 25886754 + Missense_Mutation SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr10:25886754G>T ENST00000376351.3 + 11 2558 c.2199G>T c.(2197-2199)atG>atT p.M733I GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 733 integral to membrane|plasma membrane G-protein coupled receptor activity p.M733I(1) breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GAAAGAAGATGATCACAAACA 0.448000 14 31 0.000151284 0.000152794 1 1 0 RNF216 54476 broad.mit.edu 37 7 5781044 5781044 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:5781044C>T ENST00000425013.2 - 4 657 c.433G>A c.(433-435)Gaa>Aaa p.E145K RNF216_ENST00000389902.3_Missense_Mutation_p.E202K NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 145 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding p.E202K(1) FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) TCTGAGTCTTCGGATGACTGG 0.453000 76 373 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103183210 103183210 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:103183210C>G ENST00000428762.1 - 43 6798 c.6639G>C c.(6637-6639)ttG>ttC p.L2213F RELN_ENST00000343529.5_Missense_Mutation_p.L2213F|RELN_ENST00000424685.2_Missense_Mutation_p.L2213F NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 2213 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.L2213F(1) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTCGTGTCATCAACATGCGCA 0.363000 22 70 0 0 1 0 0 ZNF518A 9849 broad.mit.edu 37 10 97919969 97919969 + RNA SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr10:97919969G>C ENST00000534948.1 + 0 4747 Q6AHZ1 Z518A_HUMAN zinc finger protein 518A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R1297T(2) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) ACATTGCATAGAAAGTGTAAA 0.383000 3 6 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22449100 22449100 + Nonsense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr4:22449100G>A ENST00000334304.5 - 5 777 c.508C>T c.(508-510)Caa>Taa p.Q170* GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Nonsense_Mutation_p.Q170* NM_145290.3 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 170 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity p.Q170*(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) AAAGTTCCTTGAGATAATGAA 0.249000 12 30 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81194452 81194452 + RNA SNP C C A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:81194452C>A ENST00000533478.1 - 0 1591 PKD1L2_ENST00000525539.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding p.S1179I(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 AGCTTCAGGACTGGTCAGGTT 0.552000 9 32 4.68919e-08 4.82011e-08 1 1 0 BMPER 168667 broad.mit.edu 37 7 34192756 34192756 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:34192756C>G ENST00000297161.2 + 16 2303 c.1929C>G c.(1927-1929)atC>atG p.I643M BMPER_ENST00000426693.1_Missense_Mutation_p.I643M NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 643 TIL. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space p.I643M(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 CGGGATGTATCAAGACGTGTG 0.507000 55 83 0 0 1 0 0 PRPF40A 55660 broad.mit.edu 37 2 153519641 153519641 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:153519641C>T ENST00000410080.1 - 20 2675 c.2134G>A c.(2134-2136)Gag>Aag p.E712K NM_017892.3 NP_060362.3 O75400 PR40A_HUMAN PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) 739 mRNA processing|RNA splicing nuclear matrix|nuclear speck protein binding p.E712K(1)|p.E608K(1)|p.E739K(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1) 21 TTCCGAGCCTCTTCTTTTTCT 0.348000 10 16 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10468223 10468223 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:10468223C>G ENST00000382483.3 - 4 3608 c.3385G>C c.(3385-3387)Gag>Cag p.E1129Q NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1129 intracellular signal transduction p.E1129Q(1) breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) AGGTCTTCCTCAAATAACTGC 0.602000 56 41 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61830487 61830487 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr10:61830487C>G ENST00000280772.2 - 37 10343 c.10152G>C c.(10150-10152)caG>caC p.Q3384H ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding p.Q3384H(1) 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 TGTTCCCATTCTGGGCAATTT 0.463000 13 41 0 0 1 0 0 TAS1R1 80835 broad.mit.edu 37 1 6639446 6639446 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:6639446C>G ENST00000333172.6 + 6 2521 c.2328C>G c.(2326-2328)ttC>ttG p.F776L TAS1R1_ENST00000351136.3_Missense_Mutation_p.F522L|TAS1R1_ENST00000328191.4_3'UTR NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 776 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity p.F776L(1) NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) GGATCGCCTTCTTCACCACGG 0.577000 23 78 0 0 1 0 0 EPAS1 2034 broad.mit.edu 37 2 46608758 46608758 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:46608758G>A ENST00000263734.3 + 13 2579 c.2069G>A c.(2068-2070)cGa>cAa p.R690Q NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 690 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding p.R690Q(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) TTTGGGGCTCGAGGCCCAGAC 0.597000 24 62 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85401089 85401089 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr15:85401089C>T ENST00000258888.5 + 6 3893 c.3726C>T c.(3724-3726)ctC>ctT p.L1242L NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1242 heart development nucleus ATP binding|protein serine/threonine kinase activity p.L1242L(2) NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) CCCGCCGCCTCACCGGCCTCC 0.692000 8 17 0 0 1 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17698327 17698327 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:17698327G>C ENST00000399080.2 - 1 1379 c.1356C>G c.(1354-1356)atC>atG p.I452M NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 452 p.I452M(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CATATGCATTGATGACTTTTG 0.313000 27 41 0 0 1 0 0 FAM21C 253725 broad.mit.edu 37 10 46250443 46250443 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr10:46250443G>C ENST00000336378.4 + 15 1418 c.1300G>C c.(1300-1302)Gag>Cag p.E434Q FAM21C_ENST00000359860.4_Missense_Mutation_p.E378Q|FAM21C_ENST00000540872.1_Missense_Mutation_p.E434Q|FAM21C_ENST00000537517.1_Missense_Mutation_p.E410Q|FAM21C_ENST00000374362.2_Missense_Mutation_p.E434Q NM_015262.2 NP_056077.2 A8K5W5 A8K5W5_HUMAN family with sequence similarity 21, member C 434 p.E433Q(1) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 ACAGAAGCCTGAGCAGCCCAC 0.552000 8 25 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 16001184 16001184 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:16001184G>A ENST00000221700.6 - 6 680 c.585C>T c.(583-585)atC>atT p.I195I CYP4F2_ENST00000011989.7_Silent_p.I46I NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 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 p.I195I(1) 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 TCATGAGGCTGATGTGCTCAA 0.542000 68 69 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41459119 41459119 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr21:41459119C>T ENST00000400454.1 - 22 4423 c.3946G>A c.(3946-3948)Gca>Aca p.A1316T NM_001271534.1|NM_001389.3 NP_001258463.1|NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1316 Ig-like C2-type 10. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.A1316T(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) CATTTGACTGCAGGAGAAGGG 0.473000 23 67 0 0 1 0 0 RPP40 10799 broad.mit.edu 37 6 4996532 4996532 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:4996532C>T ENST00000380051.2 - 6 726 c.682G>A c.(682-684)Gag>Aag p.E228K RPP40_ENST00000464646.1_Missense_Mutation_p.E168K|RPP40_ENST00000319533.5_Missense_Mutation_p.E205K NM_006638.2 NP_006629.2 O75818 RPP40_HUMAN ribonuclease P/MRP 40kDa subunit 228 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity p.E228K(1) NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 14 Ovarian(93;0.11) all_hematologic(90;0.0895) GGCGTTCCCTCCAGCTCGCTG 0.557000 43 84 0 0 1 0 0 AMOTL1 154810 broad.mit.edu 37 11 94533316 94533316 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:94533316G>A ENST00000433060.2 + 3 1101 c.960G>A c.(958-960)atG>atA p.M320I AMOTL1_ENST00000317829.8_Missense_Mutation_p.M270I|AMOTL1_ENST00000317837.9_Missense_Mutation_p.M320I NM_130847.2 NP_570899.1 Q8IY63 AMOL1_HUMAN angiomotin like 1 320 cytoplasm|tight junction identical protein binding p.M320fs*36(1)|p.M320I(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 36 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) CCAAGCAAATGATGTCCCCAG 0.602000 45 106 0 0 1 0 0 ASB2 51676 broad.mit.edu 37 14 94405833 94405833 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr14:94405833G>A ENST00000555019.1 - 8 1668 c.1238C>T c.(1237-1239)tCc>tTc p.S413F ASB2_ENST00000315988.4_Missense_Mutation_p.S365F|ASB2_ENST00000556337.1_5'UTR NM_001202429.1 NP_001189358.1 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box containing 2 365 intracellular signal transduction p.S365F(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) GTACAGCGCGGAGCTGCGCCG 0.687000 6 22 0 0 1 0 0 ATXN3L 92552 broad.mit.edu 37 X 13337636 13337636 + Missense_Mutation SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chrX:13337636G>T ENST00000380622.2 - 1 882 c.418C>A c.(418-420)Cca>Aca p.P140T GS1-600G8.3_ENST00000431486.1_RNA NM_001135995.1 NP_001129467.1 Q9H3M9 ATX3L_HUMAN ataxin 3-like 140 Josephin. protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity p.P140T(1) endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 ATTAATTCTGGACCCGCCAAG 0.333000 14 7 6.31663e-08 6.47654e-08 1 1 0 PDLIM2 64236 broad.mit.edu 37 8 22442667 22442667 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:22442667C>T ENST00000265810.4 + 4 568 c.453C>T c.(451-453)atC>atT p.I151I PDLIM2_ENST00000397760.4_Silent_p.I151I|PDLIM2_ENST00000409141.1_Silent_p.I151I|PDLIM2_ENST00000409417.1_Silent_p.I151I|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000397761.2_Silent_p.I151I|PDLIM2_ENST00000339162.7_Silent_p.I151I|PDLIM2_ENST00000308354.7_Silent_p.I401I NM_176871.3 NP_789847.1 Q96JY6 PDLI2_HUMAN PDZ and LIM domain 2 (mystique) 151 Ser-rich. actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus zinc ion binding p.I401I(1)|p.I151I(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626) AGGCAGCCATCAGCCGCAGGT 0.662000 26 21 0 0 1 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90576496 90576496 + RNA SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:90576496G>A ENST00000551025.1 + 0 4924 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity p.E1163K(1) NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) AGATAGTGATGAAGGCAAACT 0.328000 5 24 0 0 1 0 0 SYNM 23336 broad.mit.edu 37 15 99671728 99671728 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr15:99671728G>A ENST00000336292.6 + 5 3280 c.3160G>A c.(3160-3162)Gga>Aga p.G1054R SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000560674.1_Missense_Mutation_p.G769R|SYNM_ENST00000328642.7_Missense_Mutation_p.G1054R NM_145728.2 NP_663780.2 O15061 SYNEM_HUMAN synemin, intermediate filament protein 1055 Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding p.G1054R(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 29 TGAGGAAGGTGGAGCGGAGGC 0.652000 12 21 0 0 1 0 0 FZD6 8323 broad.mit.edu 37 8 104337581 104337581 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:104337581G>A ENST00000358755.4 + 4 1564 c.1247G>A c.(1246-1248)cGa>cAa p.R416Q FZD6_ENST00000540287.1_Missense_Mutation_p.R111Q|FZD6_ENST00000522566.1_Missense_Mutation_p.R416Q|FZD6_ENST00000523739.1_Missense_Mutation_p.R384Q NM_001164616.1|NM_003506.3 NP_001158088.1|NP_003497.2 O60353 FZD6_HUMAN frizzled family receptor 6 416 angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding p.R416Q(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) TTTATGATTCGAATTGGAGTC 0.403000 18 88 0 0 1 0 0 B3GALT4 8705 broad.mit.edu 37 6 33246064 33246064 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:33246064G>C ENST00000451237.1 + 1 1148 c.868G>C c.(868-870)Gag>Cag p.E290Q NM_003782.3 NP_003773.1 O96024 B3GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 290 protein glycosylation Golgi membrane|integral to membrane ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity p.E290Q(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 13 TCTCCCATTAGAGGATGTCTT 0.622000 27 156 0 0 1 0 0 PDILT 204474 broad.mit.edu 37 16 20410611 20410611 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:20410611G>A ENST00000302451.4 - 2 260 c.12C>T c.(10-12)ctC>ctT p.L4L NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 4 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity p.L4L(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 GGGGCATCCAGAGTAGGTCCA 0.592000 21 82 0 0 1 0 0 STOM 2040 broad.mit.edu 37 9 124110421 124110421 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr9:124110421G>C ENST00000286713.2 - 6 549 c.532C>G c.(532-534)Ctg>Gtg p.L178V STOM_ENST00000538954.1_Missense_Mutation_p.L127V|STOM_ENST00000347359.2_Intron NM_001270526.1|NM_004099.5 NP_001257455.1|NP_004090.4 P27105 STOM_HUMAN stomatin 178 protein homooligomerization cytoskeleton|integral to plasma membrane|melanosome|membrane raft protein binding p.L178V(1) endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137) GCATCATCCAGAGTAGACTGT 0.502000 39 21 0 0 1 0 0 DDR2 4921 broad.mit.edu 37 1 162725538 162725538 + Missense_Mutation SNP A A G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:162725538A>G ENST00000367922.3 + 8 1088 c.650A>G c.(649-651)tAt>tGt p.Y217C DDR2_ENST00000367921.3_Missense_Mutation_p.Y217C NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.Y217C(1) central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) GATTCTGTCTATGATGGAGCT 0.403000 35 28 0 0 1 0 0 CTBP1 1487 broad.mit.edu 37 4 1206715 1206715 + Missense_Mutation SNP A A C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr4:1206715A>C ENST00000382952.3 - 9 1476 c.1092T>G c.(1090-1092)aaT>aaG p.N364K CTBP1_ENST00000290921.6_Missense_Mutation_p.N375K NM_001012614.1 NP_001012632.1 Q13363 CTBP1_HUMAN C-terminal binding protein 1 375 interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation cytoplasm|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding p.N375K(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.00818) Colorectal(103;0.2) AGGCAGCCCCATTGAGCTCAG 0.667000 7 46 0 0 1 0 0 AZI1 22994 broad.mit.edu 37 17 79165108 79165108 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:79165108C>T ENST00000269392.4 - 22 2906 c.2659G>A c.(2659-2661)Gag>Aag p.E887K AZI1_ENST00000450824.2_Missense_Mutation_p.E884K|AZI1_ENST00000374782.3_Missense_Mutation_p.E848K|AZI1_ENST00000575907.1_Missense_Mutation_p.E851K NM_014984.2 NP_055799.2 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 887 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle p.E884K(1)|p.E848K(1) breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5) 36 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) TCCCTCAGCTCCTGTTCCCGG 0.677000 33 94 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29115398 29115398 + RNA SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:29115398C>G ENST00000564580.1 + 0 1363 CTB-134H23.3_ENST00000562618.1_RNA p.S452*(1) GTTGACAGGTCAAAGAAATTC 0.363000 34 120 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31614067 31614067 + Silent SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr14:31614067G>C ENST00000399332.1 - 16 3065 c.2577C>G c.(2575-2577)ctC>ctG p.L859L HECTD1_ENST00000553700.1_Silent_p.L859L NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 859 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity p.L859L(1) breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) CTATGTTTCTGAGTGTTACCA 0.358000 24 21 0 0 1 0 0 EIF4A3 9775 broad.mit.edu 37 17 78118038 78118038 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:78118038C>G ENST00000269349.3 - 2 396 c.175G>C c.(175-177)Gaa>Caa p.E59Q NM_014740.3 NP_055555.1 P38919 IF4A3_HUMAN eukaryotic translation initiation factor 4A3 59 mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding p.E59Q(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 10 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) GATGGTTTTTCAAAACCTGCA 0.468000 7 70 0 0 1 0 0 POLD1 5424 broad.mit.edu 37 19 50921177 50921177 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:50921177C>G ENST00000440232.2 + 27 3350 c.3297C>G c.(3295-3297)ttC>ttG p.F1099L CTD-2545M3.6_ENST00000599632.1_Intron|POLD1_ENST00000595904.1_Missense_Mutation_p.F1125L|POLD1_ENST00000599857.1_Missense_Mutation_p.F1099L NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 1099 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding p.F1099L(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) TGCGGCGCTTCGGACCCCCTG 0.622000 DNA polymerases (catalytic subunits) 8 11 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63269243 63269243 + Silent SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr14:63269243C>G ENST00000322893.7 - 9 1894 c.1626G>C c.(1624-1626)cgG>cgC p.R542R KCNH5_ENST00000420622.2_Silent_p.R542R|KCNH5_ENST00000394968.1_Silent_p.R484R NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 542 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity p.R542R(1)|p.R484R(1) 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) TAAAAACCTTCCGGTTTAGAT 0.493000 4 11 0 0 1 0 0 ANKRD40 91369 broad.mit.edu 37 17 48776867 48776867 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:48776867G>C ENST00000285243.6 - 3 940 c.671C>G c.(670-672)cCg>cGg p.P224R NM_052855.3 NP_443087.1 Q6AI12 ANR40_HUMAN ankyrin repeat domain 40 224 Pro-rich. p.P224Q(1)|p.P224R(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1) 11 BRCA - Breast invasive adenocarcinoma(22;2.03e-09) TGGCTTGGACGGGACAGAAGA 0.527000 27 94 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121732608 121732608 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:121732608G>C ENST00000452319.1 + 9 1351 c.1291G>C c.(1291-1293)Gag>Cag p.E431Q GLI2_ENST00000361492.4_Missense_Mutation_p.E431Q|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.E103Q P10070 GLI2_HUMAN GLI family zinc finger 2 431 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E431Q(1) NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) GCAGGAGGCTGAGGTGGTCAT 0.577000 34 59 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139380150 139380150 + Splice_Site SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr8:139380150C>T ENST00000395297.1 - 2 247 c.77G>A c.(76-78)gGg>gAg p.G26E NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 26 p.G26E(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GCATACTTACCCTCTCTGAAA 0.393000 HNSCC(54;0.14) 7 88 0 0 1 0 0 AGL 178 broad.mit.edu 37 1 100379088 100379088 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:100379088G>C ENST00000294724.4 + 30 4433 c.3955G>C c.(3955-3957)Gct>Cct p.A1319P AGL_ENST00000361522.4_Missense_Mutation_p.A1302P|AGL_ENST00000370163.3_Missense_Mutation_p.A1319P|AGL_ENST00000370161.2_Missense_Mutation_p.A1303P|AGL_ENST00000361915.3_Missense_Mutation_p.A1319P|AGL_ENST00000370165.3_Missense_Mutation_p.A1319P|AGL_ENST00000361302.3_Missense_Mutation_p.A1303P NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1319 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding p.A1319P(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TTCAGGAAAGGCTATAAAGGT 0.294000 8 25 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178942564 178942564 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:178942564G>C ENST00000263967.3 + 16 2528 c.2371G>C c.(2371-2373)Gag>Cag p.E791Q NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 791 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E791Q(2) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CATCATGTCAGAGTTACTGTT 0.353000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 7 23 0 0 1 0 0 PDXDC2P 283970 broad.mit.edu 37 16 70065826 70065826 + RNA SNP T T C rs3169319 by1000genomes TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:70065826T>C ENST00000531894.1 - 0 796 NR_003610.1 p.M209V(4) GATCCAAACATAGTGTTACAG 0.453000 6 200 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22828866 22828866 + Nonsense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:22828866C>T ENST00000404138.1 + 6 1610 c.1099C>T c.(1099-1101)Cag>Tag p.Q367* ZBTB40_ENST00000375647.4_Nonsense_Mutation_p.Q367*|ZBTB40_ENST00000374651.4_Intron NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 367 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q367*(1) endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) GTGTGTAACACAGCTGAGACC 0.488000 20 20 0 0 1 0 0 ENTPD3 956 broad.mit.edu 37 3 40457435 40457435 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:40457435G>A ENST00000301825.3 + 7 820 c.702G>A c.(700-702)aaG>aaA p.K234K ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000456402.1_Silent_p.K234K|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Silent_p.K234K NM_001248.2 NP_001239.2 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 3 234 integral to membrane ATP binding|hydrolase activity p.K234K(1) endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) CAGGAGAGAAGATGGATCTGA 0.562000 9 22 0 0 1 0 0 HAAO 23498 broad.mit.edu 37 2 42995022 42995022 + Missense_Mutation SNP A A T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:42995022A>T ENST00000294973.6 - 8 732 c.677T>A c.(676-678)gTg>gAg p.V226E NM_012205.2 NP_036337.2 P46952 3HAO_HUMAN 3-hydroxyanthranilate 3,4-dioxygenase 226 Domain B (By similarity). neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process cytosol|soluble fraction 3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding p.V226E(1) breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2) 11 CCACACGTCCACATTCTGTCT 0.632000 50 58 0 0 1 0 0 C1D 10438 broad.mit.edu 37 2 68273488 68273488 + Missense_Mutation SNP A A T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:68273488A>T ENST00000355848.3 - 3 240 c.193T>A c.(193-195)Tca>Aca p.S65T C1D_ENST00000409302.1_Missense_Mutation_p.S65T|C1D_ENST00000407324.1_Missense_Mutation_p.S104T|C1D_ENST00000410067.3_Missense_Mutation_p.S65T Q13901 C1D_HUMAN C1D nuclear receptor corepressor 65 Interaction with NR1D1 (By similarity).|Required for transcriptional repression (By similarity). apoptosis|maturation of 5.8S rRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear exosome (RNase complex)|nucleolus DNA binding|RNA binding p.S65T(1) lung(2)|urinary_tract(1) 3 CAAAACATTGAATTTAATGTG 0.299000 13 25 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117746802 117746802 + Silent SNP A A G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:117746802A>G ENST00000368508.3 - 1 216 c.18T>C c.(16-18)tgT>tgC p.C6C ROS1_ENST00000368507.3_Silent_p.C6C|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 6 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity p.C6C(2) TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TCGGAATAAGACAGTAAATGT 0.383000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 12 54 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150443912 150443912 + Missense_Mutation SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:150443912G>T ENST00000401000.4 + 10 2475 c.2410G>T c.(2410-2412)Gat>Tat p.D804Y RPRD2_ENST00000539519.1_Missense_Mutation_p.D804Y|RPRD2_ENST00000369068.4_Missense_Mutation_p.D830Y|RPRD2_ENST00000492220.1_3'UTR Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 830 Ser-rich. protein binding p.D830Y(2) central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 TTTCCAAGAAGATGAGGATTA 0.448000 4 125 0.150653 0.151026 1 1 0 RCAN2 10231 broad.mit.edu 37 6 46214588 46214588 + Silent SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:46214588G>C ENST00000371374.1 - 4 659 c.468C>G c.(466-468)ctC>ctG p.L156L RCAN2_ENST00000306764.7_Silent_p.L156L|RCAN2_ENST00000330430.6_Silent_p.L110L|RCAN2_ENST00000405162.1_Silent_p.L156L NM_001251974.1 NP_001238903.1 Q14206 RCAN2_HUMAN regulator of calcineurin 2 110 calcium-mediated signaling|central nervous system development nucleotide binding|protein phosphatase 2B binding p.L110L(1)|p.L156L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 GGGGCGAGATGAGAAACTGTT 0.522000 5 23 0 0 1 0 0 NANOG 79923 broad.mit.edu 37 12 7945759 7945759 + Missense_Mutation SNP T T A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:7945759T>A ENST00000229307.4 + 2 584 c.365T>A c.(364-366)cTc>cAc p.L122H NANOG_ENST00000526286.1_Missense_Mutation_p.L122H NM_024865.2 NP_079141.2 Q9H9S0 NANOG_HUMAN Nanog homeobox 122 cell proliferation|embryo development|somatic stem cell maintenance nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.L122H(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Kidney(36;0.0872) TACCTCAGCCTCCAGCAGATG 0.443000 30 28 0 0 1 0 0 TBCC 6903 broad.mit.edu 37 6 42713073 42713073 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:42713073C>G ENST00000244625.2 - 2 1302 c.739G>C c.(739-741)Gag>Cag p.E247Q TBCC_ENST00000372876.1_Missense_Mutation_p.E247Q Q15814 TBCC_HUMAN tubulin folding cofactor C 247 C-CAP/cofactor C-like. 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|photoreceptor connecting cilium chaperone binding|GTPase activity p.E247Q(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3) 14 Colorectal(47;0.196) all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125) CTGCAGTCCTCCAGGAAAACA 0.592000 35 85 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11123726 11123726 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:11123726C>T ENST00000358026.2 + 16 2660 c.2376C>T c.(2374-2376)ctC>ctT p.L792L SMARCA4_ENST00000590574.1_Silent_p.L792L|SMARCA4_ENST00000413806.3_Silent_p.L792L|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000541122.2_Silent_p.L792L|SMARCA4_ENST00000589677.1_Silent_p.L792L|SMARCA4_ENST00000450717.3_Silent_p.L792L|SMARCA4_ENST00000444061.3_Silent_p.L792L|SMARCA4_ENST00000429416.3_Silent_p.L792L|SMARCA4_ENST00000344626.4_Silent_p.L792L NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 792 Helicase ATP-binding. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.L792L(2)|p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) CCATCGCGCTCATCACGTACC 0.582000 """F, N, Mis""" NSCLC 31 31 0 0 1 0 0 ZNF594 84622 broad.mit.edu 37 17 5085754 5085754 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:5085754C>G ENST00000399604.4 - 1 1938 c.1798G>C c.(1798-1800)Gaa>Caa p.E600Q ZNF594_ENST00000575779.1_Missense_Mutation_p.E600Q Q96JF6 ZN594_HUMAN zinc finger protein 594 600 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E600Q(1) NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TTCCCACATTCTTTGCATTCA 0.408000 175 136 0 0 1 0 0 AIFM3 150209 broad.mit.edu 37 22 21334411 21334411 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr22:21334411G>A ENST00000399167.2 + 19 1995 c.1755G>A c.(1753-1755)gtG>gtA p.V585V AIFM3_ENST00000399163.2_Silent_p.V585V|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Silent_p.V585V|AIFM3_ENST00000405089.1_Silent_p.V591V|AIFM3_ENST00000440238.2_Silent_p.V585V|AIFM3_ENST00000335375.5_Silent_p.V573V|LZTR1_ENST00000479606.1_3'UTR NM_144704.2 NP_653305.1 apoptosis-inducing factor, mitochondrion-associated, 3 p.V585V(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 21 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) AGCGGGAGGTGGAGTGAGTGT 0.642000 16 21 0 0 1 0 0 PLEKHH1 57475 broad.mit.edu 37 14 68043123 68043123 + Silent SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr14:68043123C>G ENST00000329153.5 + 17 2496 c.2364C>G c.(2362-2364)ctC>ctG p.L788L NM_020715.2 NP_065766.1 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 788 PH 2. cytoskeleton binding p.L827L(1)|p.L788L(1) endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) ATACGTGGCTCTACCACCTCA 0.582000 9 27 0 0 1 0 0 UNC13B 10497 broad.mit.edu 37 9 35386232 35386232 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr9:35386232C>T ENST00000378495.3 + 23 3011 c.2789C>T c.(2788-2790)tCc>tTc p.S930F UNC13B_ENST00000396787.1_Missense_Mutation_p.S942F|UNC13B_ENST00000378496.4_Missense_Mutation_p.S930F NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 930 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity p.S930F(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) TGTTTGAACTCCACATATGAA 0.493000 27 16 0 0 1 0 0 PUM2 23369 broad.mit.edu 37 2 20511319 20511319 + Missense_Mutation SNP C C A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:20511319C>A ENST00000361078.2 - 4 476 c.454G>T c.(454-456)Gat>Tat p.D152Y PUM2_ENST00000338086.5_Missense_Mutation_p.D152Y|PUM2_ENST00000536417.1_Missense_Mutation_p.D96Y|PUM2_ENST00000319801.5_Missense_Mutation_p.D152Y|PUM2_ENST00000420234.1_Intron|PUM2_ENST00000403432.1_Missense_Mutation_p.D152Y Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 152 Interaction with SNAPIN. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding p.D152Y(1) breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTAGAATCATCATCATCTCCT 0.378000 33 65 6.00712e-18 6.30281e-18 1 1 0 CADPS 8618 broad.mit.edu 37 3 62423823 62423823 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:62423823G>A ENST00000383710.4 - 28 4082 c.3733C>T c.(3733-3735)Cgt>Tgt p.R1245C CADPS_ENST00000283269.9_Missense_Mutation_p.R1206C|CADPS_ENST00000357948.3_Missense_Mutation_p.R1166C NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 1245 Mediates targeting and association with DCVs (By similarity). exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding p.R1245C(1)|p.R1206C(1) breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) ACCTTATCACGCAGGACATCC 0.448000 4 32 0 0 1 0 0 GPR149 344758 broad.mit.edu 37 3 154139250 154139250 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:154139250G>A ENST00000389740.2 - 3 1300 c.1201C>T c.(1201-1203)Cta>Tta p.L401L NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 401 integral to membrane|plasma membrane G-protein coupled receptor activity p.L401L(1) autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TGGAATGATAGATTGAATTCA 0.284000 5 10 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1811504 1811504 + Nonsense_Mutation SNP C C A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:1811504C>A ENST00000539485.1 - 2 465 c.232G>T c.(232-234)Gaa>Taa p.E78* ATP8B3_ENST00000526092.2_Nonsense_Mutation_p.E25*|ATP8B3_ENST00000310127.6_Nonsense_Mutation_p.E78*|ATP8B3_ENST00000525591.1_Nonsense_Mutation_p.E25* O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 78 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.E78*(1) central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 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) GGTCTCCATTCATACTTCCTA 0.667000 3 16 0.115264 0.115836 1 1 0 NF2 4771 broad.mit.edu 37 22 30079015 30079015 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr22:30079015G>A ENST00000361452.4 + 15 2003 c.1621G>A c.(1621-1623)Gcc>Acc p.A541T NF2_ENST00000397789.3_Missense_Mutation_p.A582T|NF2_ENST00000413209.2_Intron|NF2_ENST00000361676.4_Missense_Mutation_p.A540T|NF2_ENST00000334961.7_Missense_Mutation_p.A499T|NF2_ENST00000403435.1_Missense_Mutation_p.A553T|NF2_ENST00000338641.4_Intron|NF2_ENST00000347330.5_3'UTR|NF2_ENST00000361166.4_Missense_Mutation_p.A582T|NF2_ENST00000353887.4_Missense_Mutation_p.A499T|NF2_ENST00000403999.3_Missense_Mutation_p.A582T NM_181829.2|NM_181830.2 NP_861967.1|NP_861968.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) 582 actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.?(3)|p.A582T(1) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 TTAGCCTCAAGCCCAAGGCAG 0.443000 """D, Mis, N, F, S, O""" """meningioma, acoustic neuroma, renal """ """meningioma, acoustic neuroma""" Neurofibromatosis, type 2 105 177 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7231959 7231959 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:7231959C>T ENST00000379938.2 + 10 4164 c.3627C>T c.(3625-3627)gcC>gcT p.A1209A RREB1_ENST00000379933.3_Silent_p.A1209A|RREB1_ENST00000334984.6_Silent_p.A1209A|RREB1_ENST00000349384.6_Silent_p.A1209A NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 1209 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding p.A1209A(2) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) ATGAGGTGGCCGGAGCCCCTG 0.602000 18 28 0 0 1 0 0 DHDDS 79947 broad.mit.edu 37 1 26772917 26772917 + Missense_Mutation SNP A A T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:26772917A>T ENST00000360009.2 + 5 511 c.434A>T c.(433-435)tAc>tTc p.Y145F DHDDS_ENST00000427245.2_Missense_Mutation_p.Y145F|DHDDS_ENST00000374185.3_Missense_Mutation_p.Y145F|DHDDS_ENST00000236342.7_Missense_Mutation_p.Y145F|DHDDS_ENST00000525682.2_Missense_Mutation_p.Y145F|DHDDS_ENST00000526219.1_Intron NM_024887.3|NM_205861.2 NP_079163.2|NP_995583.1 Q86SQ9 DHDDS_HUMAN dehydrodolichyl diphosphate synthase 145 protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups p.Y145F(1) breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1) 15 all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239) ACGAAGAACTACAACAAGTAA 0.512000 69 90 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11773124 11773124 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:11773124G>A ENST00000381486.2 + 28 5226 c.4926G>A c.(4924-4926)gtG>gtA p.V1642V GREB1_ENST00000396123.1_Silent_p.V640V|GREB1_ENST00000234142.5_Silent_p.V1642V NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1642 integral to membrane p.V1642V(1) breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CTTTCATTGTGATCTCTGATG 0.562000 47 74 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26875357 26875357 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:26875357G>A ENST00000381340.3 - 5 914 c.498C>T c.(496-498)ttC>ttT p.F166F ITPR2_ENST00000242737.5_Silent_p.F166F NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 166 MIR 1. 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 p.F166F(1) 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) TCAGTTTCCAGAACGGATGAA 0.388000 10 21 0 0 1 0 0 CDK13 8621 broad.mit.edu 37 7 40134032 40134032 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:40134032C>G ENST00000181839.4 + 14 4597 c.3992C>G c.(3991-3993)tCc>tGc p.S1331C CDK13_ENST00000340829.5_Missense_Mutation_p.S1271C NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 1331 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity p.S1331C(1) cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 ACTTACGTGTCCACTTCAGAC 0.483000 73 52 0 0 1 0 0 TK2 7084 broad.mit.edu 37 16 66584022 66584022 + Silent SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:66584022G>C ENST00000299697.7 - 1 293 c.69C>G c.(67-69)gtC>gtG p.V23V Y_RNA_ENST00000563151.1_lincRNA|TK2_ENST00000527284.1_Intron|TK2_ENST00000545043.2_5'UTR|TK2_ENST00000451102.2_5'UTR|TK2_ENST00000544898.1_5'UTR|TK2_ENST00000417693.3_5'UTR NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4 NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4 O00142 KITM_HUMAN thymidine kinase 2, mitochondrial 0 pyrimidine base metabolic process|pyrimidine nucleoside salvage mitochondrial matrix ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity p.V23V(1) large_intestine(1)|lung(2)|urinary_tract(1) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237) CGGCGCGGACGACTGCTAGTC 0.682000 17 16 0 0 1 0 0 PPIA 5478 broad.mit.edu 37 7 44839364 44839364 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:44839364G>A ENST00000468812.1 + 4 298 c.253G>A c.(253-255)Gat>Aat p.D85N PPIA_ENST00000355968.6_Missense_Mutation_p.D25N|PPIA_ENST00000489459.1_Missense_Mutation_p.D25N|PPIA_ENST00000480603.1_3'UTR|PPIA_ENST00000451562.1_Missense_Mutation_p.D85N NM_021130.3 NP_066953.1 P62937 PPIA_HUMAN peptidylprolyl isomerase A (cyclophilin A) 85 PPIase cyclophilin-type. entry into host cell|leukocyte migration|platelet activation|platelet degranulation|protein folding|provirus integration|regulation of viral genome replication|RNA-dependent DNA replication|uncoating of virus cytosol|extracellular region|nucleus peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding|virion binding p.D85N(1) breast(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 Cyclosporine(DB00091)|L-Proline(DB00172) GAAATTTGAAGATGAGAACTT 0.458000 9 252 0 0 1 0 0 ABCD1 215 broad.mit.edu 37 X 152991184 152991184 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chrX:152991184G>A ENST00000218104.3 + 1 862 c.463G>A c.(463-465)Gag>Aag p.E155K NM_000033.3 NP_000024.2 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 1 155 ABC transmembrane type-1.|Interaction with PEX19. fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity p.E155K(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2) 18 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCGTTACCTGGAGGGCCAACT 0.642000 31 7 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135263632 135263632 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:135263632G>A ENST00000285968.6 + 7 1037 c.1011G>A c.(1009-1011)ttG>ttA p.L337L NUP205_ENST00000440390.2_Silent_p.L131L NM_015135.2 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 337 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding p.L337L(1) breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 CGCTGGCATTGAGGGGAATAT 0.448000 12 32 0 0 1 0 0 ACSM5 54988 broad.mit.edu 37 16 20430712 20430712 + Nonsense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:20430712C>G ENST00000331849.4 + 4 725 c.578C>G c.(577-579)tCa>tGa p.S193* ACSM5_ENST00000575584.1_Nonsense_Mutation_p.S193* NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 193 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding p.S193*(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 CTGCTGGTGTCAGACAGCAGT 0.557000 19 27 0 0 1 0 0 SYN3 8224 broad.mit.edu 37 22 32924939 32924939 + Silent SNP C C T rs138034081 TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr22:32924939C>T ENST00000358763.2 - 11 1394 c.1152G>A c.(1150-1152)ctG>ctA p.L384L SYN3_ENST00000332840.5_Silent_p.L384L NM_001135774.1 NP_001129246.1 O14994 SYN3_HUMAN synapsin III 384 C; actin-binding and synaptic-vesicle binding. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity p.L384L(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 GGTCGGCCATCAGCTGTCTGT 0.592000 OREG0026488 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 83 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4945714 4945714 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:4945714G>A ENST00000345988.2 - 10 1065 c.976C>T c.(976-978)Cac>Tac p.H326Y PPL_ENST00000590782.2_Missense_Mutation_p.H324Y NM_002705.4 NP_002696 O60437 PEPL_HUMAN periplakin 326 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton p.H326Y(1) breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 ACGTCTTCGTGAAACTAGGGG 0.582000 75 98 0 0 1 0 0 IL10RB 3588 broad.mit.edu 37 21 34640751 34640751 + Nonsense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr21:34640751C>G ENST00000433395.2 + 4 485 c.485C>G c.(484-486)tCa>tGa p.S162* IL10RB_ENST00000290200.2_Missense_Mutation_p.F34L p.F34L(1) CTGTTAATTTCAAGAACATTC 0.418000 26 129 0 0 1 0 0 LOC100134368 100134368 broad.mit.edu 37 16 437153 437153 + RNA SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:437153G>A ENST00000412293.1 + 0 521 NR_024453.2 GATTCCGCCTGATGGAGAGAA 0.493000 22 94 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 29999180 29999180 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:29999180G>A ENST00000308893.4 + 16 4630 c.3587G>A c.(3586-3588)cGg>cAg p.R1196Q TAOK2_ENST00000543033.1_Missense_Mutation_p.R1083Q|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Missense_Mutation_p.R1023Q NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 1196 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity p.R1196Q(1) breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CGAATCCCCCGGCTACTACCA 0.721000 3 15 0 0 1 0 0 SLC17A4 10050 broad.mit.edu 37 6 25773814 25773814 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:25773814C>G ENST00000377905.4 + 8 1018 c.899C>G c.(898-900)tCt>tGt p.S300C SLC17A4_ENST00000397076.2_Missense_Mutation_p.S70C|SLC17A4_ENST00000439485.2_Intron NM_005495.2 NP_005486.1 Q9Y2C5 S17A4_HUMAN solute carrier family 17, member 4 300 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity p.S300C(1) breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 ATTTTAGTCTCTTATTTCTGT 0.448000 3 32 0 0 1 0 0 ADH1B 125 broad.mit.edu 37 4 100235073 100235073 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr4:100235073G>C ENST00000305046.8 - 6 800 c.733C>G c.(733-735)Caa>Gaa p.Q245E ADH1B_ENST00000394887.3_Missense_Mutation_p.Q205E P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 245 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding p.Q245E(1) 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) TTGTAGTCTTGAGGGTTGATG 0.468000 79 93 0 0 1 0 0 RNF5 6048 broad.mit.edu 37 6 32147331 32147331 + Missense_Mutation SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr6:32147331C>T ENST00000427134.2 + 2 169 c.154C>T c.(154-156)Cat>Tat p.H52Y RNF5_ENST00000375094.3_Missense_Mutation_p.H52Y|RNF5_ENST00000487940.1_3'UTR Q99942 RNF5_HUMAN ring finger protein 5, E3 ubiquitin protein ligase 52 ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding p.H52Y(1) endometrium(1)|lung(7)|urinary_tract(2) 10 GCCATGTCTTCATCAGGTGCG 0.473000 285 511 0 0 1 0 0 NAB2 4665 broad.mit.edu 37 12 57485446 57485446 + Missense_Mutation SNP T T C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:57485446T>C ENST00000300131.3 + 2 1000 c.622T>C c.(622-624)Ttc>Ctc p.F208L NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.F208L|NAB2_ENST00000342556.6_Missense_Mutation_p.F208L NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 208 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity p.F208L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 CTCGCCCCCCTTCTCCCCCCC 0.716000 5 36 0 0 1 0 0 CYP27A1 1593 broad.mit.edu 37 2 219679423 219679423 + Silent SNP C C G rs138596741 TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:219679423C>G ENST00000258415.4 + 8 1846 c.1419C>G c.(1417-1419)gtC>gtG p.V473V NM_000784.3 NP_000775.1 Q02318 CP27A_HUMAN cytochrome P450, family 27, subfamily A, polypeptide 1 473 bile acid biosynthetic process|xenobiotic metabolic process mitochondrial matrix cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding p.V473V(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1) 26 Renal(207;0.0474) Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981) Cholecalciferol(DB00169) GCTATGGGGTCCGGGCCTGCC 0.637000 13 32 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25322078 25322078 + RNA SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr15:25322078G>A ENST00000549804.2 + 0 1184 GGAGATGCCAGGAAGCCCCTT 0.527000 12 18 0 0 1 0 0 MUC5AC 4586 broad.mit.edu 37 11 1155713 1155713 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:1155713G>C ENST00000356191.2 + 5 399 c.399G>C c.(397-399)gaG>gaC p.E133D mucin 5AC, oligomeric mucus/gel-forming p.S134T(1) NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) CCCACGCTGAGCAGGGTCCTC 0.637000 12 14 0 0 1 0 0 NSUN5 55695 broad.mit.edu 37 7 72721626 72721626 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr7:72721626C>T ENST00000428206.1 - 3 244 c.231G>A c.(229-231)gtG>gtA p.V77V NSUN5_ENST00000310326.8_Silent_p.V115V|NSUN5_ENST00000252594.6_Silent_p.V115V|NSUN5_ENST00000438747.2_Silent_p.V115V NM_001168348.1 NP_001161820.1 Q96P11 NSUN5_HUMAN NOP2/Sun domain family, member 5 115 methyltransferase activity p.V115V(2) breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 Lung NSC(55;0.163) CATTCCGGCTCACACCCCGAT 0.642000 10 29 0 0 1 0 0 KRTAP13-1 140258 broad.mit.edu 37 21 31768802 31768802 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr21:31768802G>A ENST00000355459.2 + 1 411 c.398G>A c.(397-399)gGa>gAa p.G133E NM_181599.2 NP_853630.2 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 133 intermediate filament p.G133E(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CTGGGTTATGGAGGCTGTGGC 0.582000 23 12 0 0 1 0 0 BAP1 8314 broad.mit.edu 37 3 52442604 52442604 + Missense_Mutation SNP G G C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr3:52442604G>C ENST00000460680.1 - 4 612 c.141C>G c.(139-141)atC>atG p.I47M BAP1_ENST00000296288.5_Missense_Mutation_p.I47M NM_004656.2 NP_004647.1 Q92560 BAP1_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 47 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.I47M(1) NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) TGAACAGGAAGATAAATCCAT 0.473000 """N, Mis, F, S, O""" """uveal melanoma, breast, NSCLC, RCC""" """mesothelioma, uveal melanoma""" 3 23 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89424064 89424064 + RNA SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr11:89424064C>T ENST00000532352.1 + 0 1527 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity p.F238F(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 CAAACAAATTCAGCGGCTATC 0.328000 3 31 0 0 1 0 0 YWHAB 7529 broad.mit.edu 37 20 43535062 43535062 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr20:43535062G>A ENST00000372839.3 + 7 998 c.724G>A c.(724-726)Ggg>Agg p.G242R YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Missense_Mutation_p.G242R NM_003404.3 NP_003395.1 P31946 1433B_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide 242 activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction centrosome|cytosol|melanosome|perinuclear region of cytoplasm histone deacetylase binding|phosphoserine binding|protein domain specific binding p.G242R(1) breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1) 12 Myeloproliferative disorder(115;0.0122) AGGAGACGCTGGGGAGGGAGA 0.438000 34 82 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9067796 9067796 + Silent SNP C C T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr19:9067796C>T ENST00000397910.4 - 3 19853 c.19650G>A c.(19648-19650)gtG>gtA p.V6550V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6552 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.V6550V(2)|p.V2183V(1) 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 CTGTGGTCTTCACTAGGCCAG 0.483000 20 15 0 0 1 0 0 SEC22B 9554 broad.mit.edu 37 1 145109312 145109313 + RNA INS - - A rs148903206 TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr1:145109312_145109313insA ENST00000453618.1 + 0 512 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding aaaccaaaaacaaaAAAAAAAG 0.416 2 4 --- --- --- --- H3F3AP4 440926 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 4 --- --- --- --- NEU2 4759 broad.mit.edu 37 2 233899698 233899698 + Frame_Shift_Del DEL T T - TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr2:233899698delT ENST00000233840.3 + 2 1074 c.1074delT c.(1072-1074)gatfs p.D358fs NM_005383.2 NP_005374.2 Q9Y3R4 NEUR2_HUMAN sialidase 2 (cytosolic sialidase) 358 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) AAGCCAATGATTACGAGGAGA 0.577 92 285 --- --- --- --- MYOT 9499 broad.mit.edu 37 5 137222941 137222941 + Frame_Shift_Del DEL G G - rs141801816 byFrequency TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr5:137222941delG ENST00000239926.4 + 10 1738 c.1364delG c.(1363-1365)cggfs p.R455fs RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000421631.2_Frame_Shift_Del_p.R271fs|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Frame_Shift_Del_p.R340fs NM_006790.2 NP_006781 Q9UBF9 MYOTI_HUMAN myotilin 455 Necessary for interaction with ACTA1.|Necessary for interaction with FLNC. muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AAGCAGTTACGGGTTCGACCA 0.393 42 133 --- --- --- --- TAS2R50 259296 broad.mit.edu 37 12 11139103 11139106 + Frame_Shift_Del DEL AAGA AAGA - TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:11139103_11139106delAAGA ENST00000506868.1 - 1 405_408 c.354_357delTCTT c.(352-357)tttcttfs p.FL118fs TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176890.2 NP_795371.2 P59544 T2R50_HUMAN taste receptor, type 2, member 50 118 sensory perception of taste integral to membrane G-protein coupled receptor activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1) 17 TCTTTAAATGAAGAAAAAGAAGGT 0.392 23 69 --- --- --- --- BAZ2A 11176 broad.mit.edu 37 12 57009177 57009178 + Frame_Shift_Ins INS - - C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr12:57009177_57009178insC ENST00000179765.5 - 3 549_550 c.350_351insG c.(349-351)ggafs p.G117fs BAZ2A_ENST00000551812.1_Frame_Shift_Ins_p.G119fs|BAZ2A_ENST00000379441.3_Frame_Shift_Ins_p.G119fs|BAZ2A_ENST00000549884.1_Frame_Shift_Ins_p.G117fs Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 119 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 GTGGGTATTGTCCCCCCGAGAA 0.584 76 151 --- --- --- --- RP11-51O6.1 0 broad.mit.edu 37 16 61089308 61089309 + RNA INS - - C TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr16:61089308_61089309insC ENST00000591758.1 - 0 559_560 tcttcttttttttttttttttt 0.257 15 12 --- --- --- --- LLGL2 3993 broad.mit.edu 37 17 73569700 73569701 + Frame_Shift_Ins INS - - G rs112393371 byFrequency TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr17:73569700_73569701insG ENST00000392550.3 + 21 2981_2982 c.2864_2865insG c.(2863-2868)ccgagcfs p.S956fs LLGL2_ENST00000167462.5_Frame_Shift_Ins_p.S956fs|LLGL2_ENST00000577200.1_Frame_Shift_Ins_p.S956fs NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 956 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) AAGAAGGCCCCGAGCCGAGCCA 0.668 7 56 --- --- --- --- MMP24 10893 broad.mit.edu 37 20 33862215 33862216 + Frame_Shift_Ins INS - - G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 448fe471-3f4e-4dc8-a4e0-6f147dc93abe 68402877-a578-4bfd-a05e-58c6e06fb6a3 g.chr20:33862215_33862216insG ENST00000246186.6 + 9 1826_1827 c.1741_1742insG c.(1741-1743)cggfs p.R581fs EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000455178.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA NM_006690.3 NP_006681.1 Q9Y5R2 MMP24_HUMAN matrix metallopeptidase 24 (membrane-inserted) 581 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) GAAGGAGCGGCGGCTGCCCCAG 0.644 7 221 --- --- --- ---