Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut KLRC1 3821 broad.mit.edu 37 12 10603138 10603138 + Silent SNP C T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr12:10603138C>T uc001qyl.3 - 2 442 c.228G>A c.(226-228)ctG>ctA p.L76L KLRC1_uc009zhm.2_Silent_p.L76L|KLRC1_uc001qym.3_Silent_p.L76L|KLRC1_uc001qyn.3_Silent_p.L76L|KLRC1_uc001qyo.3_Silent_p.L76L NM_002259 NP_998823 P26715 NKG2A_HUMAN Homo sapiens killer cell lectin-like receptor subfamily C, member 1 (KLRC1), transcript variant 1, mRNA. 76 cell surface receptor linked signaling pathway|regulation of immune response integral to plasma membrane sugar binding|transmembrane receptor activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1) 16 AGATAATTCCCAGGATCCCAA 0.418000 82 55 0 0 0.014410 0 0 DNAH17 8632 broad.mit.edu 37 17 76511015 76511015 + Silent SNP C T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr17:76511015C>T uc010dhp.2 - 25 4079 c.3954G>A c.(3952-3954)aaG>aaA p.K1318K NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. p.R1318S(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) ACCTCATGTCCTTGGCAAACT 0.493000 63 64 0 0 0.014410 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42436655 42436655 + Silent SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr15:42436655G>A uc001zoz.3 - 16 2060 c.1968C>T c.(1966-1968)gcC>gcT p.A656A PLA2G4F_uc010bcq.3_Missense_Mutation_p.P9L|PLA2G4F_uc001zoy.3_Silent_p.A288A|PLA2G4F_uc001zpa.3_Silent_p.A407A|PLA2G4F_uc010bcr.3_Silent_p.A407A|PLA2G4F_uc010bcs.3_Silent_p.A443A NM_213600 NP_998765 Q68DD2 PA24F_HUMAN Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA. 656 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) CACCTTTCCAGGCCACGAACT 0.612000 32 25 0 0 0.009535 0 0 ODZ2 57451 broad.mit.edu 37 5 167631399 167631399 + Silent SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr5:167631399G>A uc010jjd.3 + 18 3570 c.3570G>A c.(3568-3570)ggG>ggA p.G1190G ODZ2_uc003lzr.4_Silent_p.G967G|ODZ2_uc003lzt.4_Silent_p.G563G|ODZ2_uc010jje.3_Silent_p.G461G NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) AAGGCACTGGGGAAAACCAGT 0.587000 18 11 0 0 0.001855 0 0 HR 55806 broad.mit.edu 37 8 21984639 21984639 + Missense_Mutation SNP G T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr8:21984639G>T uc003xas.3 - 2 1981 c.1316C>A c.(1315-1317)gCa>gAa p.A439E HR_uc003xat.3_Missense_Mutation_p.A439E NM_005144 NP_005135 O43593 HAIR_HUMAN Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA. 439 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CCCCTGTTCTGCAGTGCCTGG 0.652000 84 185 3.57236e-102 4.18828e-102 0.014410 1 0 ADAM20 8748 broad.mit.edu 37 14 70990374 70990374 + Silent SNP A G G TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr14:70990374A>G uc021rvs.1 - 0 1251 c.1251T>C c.(1249-1251)caT>caC p.H417H ADAM20_uc001xme.3_Silent_p.H417H NM_003814 NP_003805 O43506 ADA20_HUMAN Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA. 367 Disintegrin. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) TTCTATAGGCATGCATTATGC 0.433000 71 44 0 0 0.014410 0 0 NCAM1 4684 broad.mit.edu 37 11 113075075 113075075 + Missense_Mutation SNP C G G TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr11:113075075C>G uc021qqp.1 + 2 561 c.189C>G c.(187-189)aaC>aaG p.N63K NCAM1_uc001pno.3_5'UTR|NCAM1_uc001pnp.3_Missense_Mutation_p.N63K|NCAM1_uc021qqo.1_Missense_Mutation_p.N63K|NCAM1_uc001pnq.3_Missense_Mutation_p.N63K|NCAM1_uc001pnr.3_Missense_Mutation_p.N63K NM_001242607 NP_001229536 P13591 NCAM1_HUMAN Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA. 65 Ig-like C2-type 1. axon guidance|interferon-gamma-mediated signaling pathway Golgi membrane|anchored to membrane|extracellular region|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) TCACCCCAAACCAGCAGCGGA 0.478000 13 17 0 0 0.006122 0 0 CAPS 828 broad.mit.edu 37 19 5915048 5915048 + Missense_Mutation SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr19:5915048G>A uc002mdt.3 + 3 509 c.359G>A c.(358-360)gGg>gAg p.G120E CAPS_uc002mdu.3_Missense_Mutation_p.G120E NM_004058 NP_004049 Q13938 CAYP1_HUMAN Homo sapiens calcyphosine (CAPS), transcript variant 1, mRNA. 120 EF-hand 3. intracellular signal transduction cytoplasm calcium ion binding cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1) 4 GACCTCCGCGGGGTGTACAGT 0.677000 95 56 0 0 0.014410 0 0 OR11H12 440153 broad.mit.edu 37 14 19378122 19378122 + Missense_Mutation SNP C T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr14:19378122C>T uc010tkp.2 + 0 529 c.529C>T c.(529-531)Ctc>Ttc p.L177F NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA. 177 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCCCATTGTTCTCATCTCTCA 0.478000 261 17 0 0 0.008740 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232581393 232581393 + Missense_Mutation SNP T C C TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr1:232581393T>C uc001hvg.3 - 8 3393 c.3235A>G c.(3235-3237)Aga>Gga p.R1079G SIPA1L2_uc001hvf.3_Missense_Mutation_p.R153G NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA. 1079 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GGGGAAGCTCTAGAGAGGGGC 0.657000 70 23 0 0 0.002780 0 0 WNT10B 7480 broad.mit.edu 37 12 49360258 49360258 + Missense_Mutation SNP C T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr12:49360258C>T uc001rss.3 - 4 1234 c.790G>A c.(790-792)Gcg>Acg p.A264T WNT10B_uc001rst.3_3'UTR NM_003394 NP_003385 O00744 WN10B_HUMAN Homo sapiens wingless-type MMTV integration site family, member 10B (WNT10B), mRNA. 264 Wnt receptor signaling pathway, calcium modulating pathway|axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4) 23 TCTGGGGCCGCCCTCCAGCAT 0.592000 23 30 0 0 0.004878 0 0 PCNT 5116 broad.mit.edu 37 21 47805830 47805830 + Silent SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr21:47805830G>A uc002zji.4 + 16 3503 c.3396G>A c.(3394-3396)cgG>cgA p.R1132R PCNT_uc002zjj.3_Silent_p.R1014R NM_006031 NP_006022 O95613 PCNT_HUMAN Homo sapiens pericentrin (PCNT), mRNA. 1132 G2/M transition of mitotic cell cycle|cilium assembly cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GGCGGGAGCGGGAGAACCGGG 0.572000 78 55 0 0 0.014410 0 0 NUP107 57122 broad.mit.edu 37 12 69120309 69120309 + Missense_Mutation SNP C T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr12:69120309C>T uc001suf.3 + 18 1722 c.1607C>T c.(1606-1608)tCc>tTc p.S536F NUP107_uc001sug.3_Missense_Mutation_p.S383F|NUP107_uc010stj.2_Missense_Mutation_p.S507F NM_020401 NP_065134 P57740 NU107_HUMAN Homo sapiens nucleoporin 107kDa (NUP107), mRNA. 536 carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|condensed chromosome kinetochore|cytosol nucleocytoplasmic transporter activity|protein binding NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) AAATGGCTTTCCAAAAGCAGA 0.348000 41 23 0 0 0.004656 0 0 DOCK2 1794 broad.mit.edu 37 5 169101380 169101380 + Missense_Mutation SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr5:169101380G>A uc003maf.3 + 5 481 c.401G>A c.(400-402)gGa>gAa p.G134E DOCK2_uc011der.2_Non-coding_Transcript NM_004946 NP_004937 Q92608 DOCK2_HUMAN Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA. 134 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTTCTCTCAGGAACCTTACCC 0.478000 61 42 0 0 0.014410 0 0 FAT4 79633 broad.mit.edu 37 4 126328119 126328119 + Missense_Mutation SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr4:126328119G>A uc003ifj.4 + 2 5392 c.5392G>A c.(5392-5394)Gca>Aca p.A1798T FAT4_uc011cgp.2_Missense_Mutation_p.A96T NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 1798 Cadherin 17. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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 AGATCTGATAGCAACCAGGCG 0.458000 157 4 0 0 0.000602 0 0 TMED8 283578 broad.mit.edu 37 14 77809738 77809738 + Silent SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr14:77809738G>A uc001xto.1 - 4 543 c.543C>T c.(541-543)agC>agT p.S181S TMED8_uc001xtn.1_Silent_p.S25S NM_213601 NP_998766 Q6PL24 TMED8_HUMAN Homo sapiens transmembrane emp24 protein transport domain containing 8 (TMED8), mRNA. 181 GOLD. transport integral to membrane breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4) 15 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) CCACCAGACGGCTGTTCTTCT 0.542000 14 21 0 0 0.002780 0 0 ATF1 466 broad.mit.edu 37 12 51208211 51208211 + Missense_Mutation SNP A T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr12:51208211A>T uc001rww.4 + 5 968 c.660A>T c.(658-660)ttA>ttT p.L220F ATF1_uc010smu.2_Missense_Mutation_p.L85F NM_005171 NP_005162 P18846 ATF1_HUMAN Homo sapiens activating transcription factor 1 (ATF1), mRNA. 220 MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway EWSR1/ATF1(347)|FUS/ATF1(4) breast(1)|large_intestine(1)|ovary(2) 4 AAATAAGGTTAATGAAAAACA 0.388000 T """EWSR1, FUS""" """malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """ 29 24 0 0 0.003271 0 0 ZNF92 168374 broad.mit.edu 37 7 64863705 64863705 + Silent SNP A G G TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr7:64863705A>G uc003ttz.3 + 3 821 c.678A>G c.(676-678)gaA>gaG p.E226E ZNF92_uc003tua.3_Silent_p.E157E|ZNF92_uc010kzu.3_Silent_p.E194E|ZNF92_uc003tub.3_Silent_p.E150E|ZNF92_uc022afd.1_5'Flank NM_152626 NP_009070 Q03936 ZNF92_HUMAN Homo sapiens zinc finger protein 92 (ZNF92), transcript variant 2, mRNA. 226 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) ATACTGGAGAAAAACCCTACA 0.338000 96 3 0 0 0.009096 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296563 39296563 + Silent SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr17:39296563G>A uc010cxk.2 - 0 177 c.177C>T c.(175-177)acC>acT p.T59T NM_030976 NP_112238 Q9BYQ5 KRA46_HUMAN Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA. 59 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 gacggcagcAGGTGGGCTGGC 0.667000 150 5 0 0 0.001168 0 0 SLC45A4 57210 broad.mit.edu 37 8 142229073 142229073 + Silent SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr8:142229073G>A uc003ywd.1 - 3 821 c.513C>T c.(511-513)ttC>ttT p.F171F SLC45A4_uc003ywc.1_Silent_p.F171F|SLC45A4_uc010meq.1_Silent_p.F169F NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA. 222 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) AGCTGCCCAGGAAGGTCTGGG 0.662000 80 30 0 0 0.003755 0 0 CDC27 996 broad.mit.edu 37 17 45234749 45234749 + Splice_Site SNP A C C rs148497428 TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr17:45234749A>C uc002ile.4 - 6 603 c.476_splice c.e6-1 p.G159_splice CDC27_uc002ild.4_Splice_Site_p.G159_splice|CDC27_uc002ilf.4_Splice_Site_p.G159_splice|CDC27_uc010wkp.2_Splice_Site_p.G98_splice|CDC27_uc010wkq.1_Splice_Site NM_001114091 NP_001107563 P30260 CDC27_HUMAN Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA. 159 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding p.G159G(3) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 CTGGCTTTTCACCTGTGAAGA 0.358000 45 6 0 0 0.003080 0 0 MUC4 4585 broad.mit.edu 37 3 195505835 195505835 + Missense_Mutation SNP C T T rs58500707 by1000genomes TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr3:195505835C>T uc021xjp.1 - 1 12772 c.12616G>A c.(12616-12618)Gcc>Acc p.A4206T MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA. 969 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.A4206T(3) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGAGGGGTGGCGTGACCTGTG 0.597000 4 3 0 0 0.004672 0 0 GPR124 25960 broad.mit.edu 37 8 37693253 37693253 + Missense_Mutation SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr8:37693253G>A uc003xkj.3 + 12 2401 c.2015G>A c.(2014-2016)cGt>cAt p.R672H GPR124_uc010lvy.3_Intron NM_032777 NP_116166 Q96PE1 GP124_HUMAN Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA. 672 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GGCAAGAGGCGTGGCGTGGCC 0.647000 101 31 0 0 0.013726 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762051 130762051 + Missense_Mutation SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr6:130762051G>A uc003qcb.3 + 1 2862 c.484G>A c.(484-486)Gat>Aat p.D162N TMEM200A_uc003qca.3_Missense_Mutation_p.D162N|TMEM200A_uc010kfh.3_Missense_Mutation_p.D162N|TMEM200A_uc010kfi.3_Missense_Mutation_p.D162N|TMEM200A_uc021zfg.1_Missense_Mutation_p.D162N NM_052913 NP_443145 Q86VY9 T200A_HUMAN Homo sapiens transmembrane protein 200A (TMEM200A), mRNA. 162 integral to membrane p.R161S(1) NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) ACACATGAGGGATATCTATTC 0.408000 46 28 0 0 0.004289 0 0 PTBP2 58155 broad.mit.edu 37 1 97236329 97236330 + Missense_Mutation DNP AC TT TT TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr1:97236329_97236330AC>TT uc001drq.3 + 4 600_601 c.354_355AC>TT c.(352-357)acacct>acTTct p.P119S PTBP2_uc001drn.2_Missense_Mutation_p.P119S|PTBP2_uc001dro.2_Missense_Mutation_p.P119S|PTBP2_uc010otz.1_Missense_Mutation_p.P130S|PTBP2_uc001drp.2_Non-coding_Transcript|PTBP2_uc009wdw.2_Missense_Mutation_p.P67S|PTBP2_uc001drr.3_Missense_Mutation_p.P119S|PTBP2_uc001dru.3_Non-coding_Transcript|PTBP2_uc001drm.2_Missense_Mutation_p.P119S NM_021190 NP_067013 Q9UKA9 PTBP2_HUMAN Homo sapiens polypyrimidine tract binding protein 2 (PTBP2), mRNA. 119 RRM 1. nucleotide binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1) 26 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) CTGCTGTGACACCTCATCTTCG 0.327000 43 31 0 0 0.004672 0 0 IL22RA1 58985 broad.mit.edu 37 1 24454678 24454678 + Missense_Mutation SNP C A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr1:24454678C>A uc001biq.2 - 4 826 c.623G>T c.(622-624)tGg>tTg p.W208L IL22RA1_uc010oeg.1_Missense_Mutation_p.W100L|IL22RA1_uc009vrb.2_Missense_Mutation_p.W72L|IL22RA1_uc010oeh.2_Missense_Mutation_p.W208L NM_021258 NP_067081 Q8N6P7 I22R1_HUMAN Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA. 208 Fibronectin type-III 2. integral to membrane interferon receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) CTCCTTGGCCCAGGTGGGAAC 0.557000 80 23 4.7796e-09 5.35736e-09 0.004656 1 0 CASR 846 broad.mit.edu 37 3 122003268 122003268 + Missense_Mutation SNP C T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr3:122003268C>T uc003eew.4 + 6 2935 c.2497C>T c.(2497-2499)Cca>Tca p.P833S CASR_uc003eev.4_Missense_Mutation_p.P823S NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 823 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CTCCTTCATTCCAGCCTATGC 0.512000 62 37 0 0 0.014410 0 0 C14orf28 122525 broad.mit.edu 37 14 45369816 45369816 + Missense_Mutation SNP G C C TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr14:45369816G>C uc001wvo.3 + 1 444 c.178G>C c.(178-180)Gat>Cat p.D60H C14orf28_uc001wvp.1_Missense_Mutation_p.D60H NM_001017923 NP_001017923 Q4W4Y0 CN028_HUMAN Homo sapiens chromosome 14 open reading frame 28 (C14orf28), mRNA. 60 endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2) 11 CTGCACCATAGATGGATTCTT 0.378000 26 30 0 0 0.003755 0 0 CRY2 1408 broad.mit.edu 37 11 45891312 45891312 + Missense_Mutation SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr11:45891312G>A uc010rgn.2 + 6 1223 c.1201G>A c.(1201-1203)Gtg>Atg p.V401M CRY2_uc009ykw.3_Missense_Mutation_p.V319M|CRY2_uc010rgo.2_Missense_Mutation_p.V123M NM_021117 NP_066940 Q49AN0 CRY2_HUMAN Homo sapiens cryptochrome 2 (photolyase-like) (CRY2), transcript variant 1, mRNA. 380 FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity). DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA photolyase activity|blue light photoreceptor activity|damaged DNA binding|nucleotide binding|protein binding|single-stranded DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2) 15 CCGGCATGCCGTGGCCTGCTT 0.642000 28 3 0 0 0.009096 0 0 KIF14 9928 broad.mit.edu 37 1 200574423 200574423 + Missense_Mutation SNP C G G rs144936292 byFrequency TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr1:200574423C>G uc010ppk.1 - 7 2173 c.1734G>C c.(1732-1734)atG>atC p.M578I KIF14_uc010ppj.1_Missense_Mutation_p.M87I NM_014875 NP_055690 Q15058 KIF14_HUMAN Homo sapiens kinesin family member 14 (KIF14), mRNA. 578 Kinesin-motor. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 TGGTCTGGGTCATCACCAGGG 0.388000 94 3 0 0 0.004672 0 0 ANKRD36B 57730 broad.mit.edu 37 2 98165937 98165937 + Silent SNP T C C TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr2:98165937T>C uc010yvc.1 - 19 1702 c.1422A>G c.(1420-1422)gaA>gaG p.E474E ANKRD36B_uc010yve.1_Non-coding_Transcript NM_025190 NP_079466 Q8N2N9 AN36B_HUMAN Homo sapiens ankyrin repeat domain 36B (ANKRD36B), mRNA. 474 AAACAGAATCTTCCTTGACAC 0.294000 8 7 0 0 0.008291 0 0 MDGA1 266727 broad.mit.edu 37 6 37619953 37619953 + Silent SNP C T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr6:37619953C>T uc003onu.1 - 6 2325 c.1146G>A c.(1144-1146)aaG>aaA p.K382K MDGA1_uc003onw.3_Non-coding_Transcript NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA. 382 Ig-like 4. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 CCAGCAGCCGCTTGGACATGC 0.592000 56 34 0 0 0.006230 0 0 HR 55806 broad.mit.edu 37 8 21985008 21985008 + Missense_Mutation SNP G C C TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr8:21985008G>C uc003xas.3 - 2 1612 c.947C>G c.(946-948)tCt>tGt p.S316C HR_uc003xat.3_Missense_Mutation_p.S316C NM_005144 NP_005135 O43593 HAIR_HUMAN Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA. 316 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CGGCTCAGGAGAGGGGCACCT 0.647000 6 23 0 0 0.003330 0 0 EVC2 132884 broad.mit.edu 37 4 5624453 5624453 + Missense_Mutation SNP A C C TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr4:5624453A>C uc003gij.3 - 13 2366 c.2312T>G c.(2311-2313)cTc>cGc p.L771R EVC2_uc003gik.3_Missense_Mutation_p.L691R|EVC2_uc011bwb.2_Missense_Mutation_p.L211R NM_147127 NP_667338 Q86UK5 LBN_HUMAN Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA. 771 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 CTGCAGGAAGAGCCAGGGCAC 0.652000 52 3 0 0 0.004672 0 0 PRKAG1 5571 broad.mit.edu 37 12 49399093 49399093 + Missense_Mutation SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr12:49399093G>A uc001rsy.3 - 4 411 c.305C>T c.(304-306)gCc>gTc p.A102V PRKAG1_uc010smd.2_Missense_Mutation_p.A70V|PRKAG1_uc001rsz.3_Missense_Mutation_p.A111V|PRKAG1_uc010sme.2_Missense_Mutation_p.A102V NM_002733 NP_001193639 P54619 AAKG1_HUMAN Homo sapiens protein kinase, AMP-activated, gamma 1 non-catalytic subunit (PRKAG1), transcript variant 1, mRNA. 102 CBS 1. cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis cytosol cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 9 CCTTACCAAGGCTGATTTATA 0.473000 73 58 0 0 0.014410 0 0 IQCF1 132141 broad.mit.edu 37 3 51937001 51937001 + Splice_Site SNP C A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr3:51937001C>A uc003dbv.3 - 2 206 c.108_splice c.e2+1 p.E36_splice IQCF1_uc003dbq.4_Splice_Site NM_152397 NP_689610 Q8N6M8 IQCF1_HUMAN Homo sapiens IQ motif containing F1 (IQCF1), mRNA. 36 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CTCCTCCTACCTCTGCCTTTG 0.493000 174 42 1.56793e-16 1.77698e-16 0.014410 1 0 IL7R 3575 broad.mit.edu 37 5 35873668 35873668 + Silent SNP C T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr5:35873668C>T uc003jjs.3 + 4 713 c.624C>T c.(622-624)atC>atT p.I208I IL7R_uc011coo.2_Silent_p.I208I|IL7R_uc011cop.2_Intron NM_002185 NP_002176 P16871 IL7RA_HUMAN Homo sapiens interleukin 7 receptor (IL7R), mRNA. 208 Fibronectin type-III. immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TTCGATCCATCCCTGATCACT 0.423000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 38 26 0 0 0.009535 0 0 OR51B4 79339 broad.mit.edu 37 11 5322673 5322673 + Silent SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr11:5322673G>A uc010qza.2 - 0 504 c.504C>T c.(502-504)tcC>tcT p.S168S HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033179 NP_149419 Q9Y5P0 O51B4_HUMAN Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA. 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S168S(2) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGAGGGCACGGGAACCACAAT 0.418000 55 22 0 0 0.003954 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 5605718 5605718 + Missense_Mutation SNP C T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chrY:5605718C>T uc004fqo.3 + 4 4492 c.3758C>T c.(3757-3759)tCt>tTt p.S1253F PCDH11Y_uc022ciy.1_Non-coding_Transcript NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA. 1253 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 CACAGCTCTTCTCTGCCACAG 0.547000 8 107 0 0 0.014410 0 0 CHRNA4 1137 broad.mit.edu 37 20 61981938 61981938 + Missense_Mutation SNP G C C TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr20:61981938G>C uc002yes.2 - 4 1003 c.825C>G c.(823-825)atC>atG p.I275M CHRNA4_uc002yet.1_Missense_Mutation_p.I99M|CHRNA4_uc010gke.1_Missense_Mutation_p.I204M|CHRNA4_uc002yev.1_Missense_Mutation_p.I99M|CHRNA4_uc010gkf.1_Missense_Mutation_p.I99M NM_000744 NP_000735 P43681 ACHA4_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA. 275 B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) TGCACAGCGTGATCTTCTCGC 0.592000 41 35 0 0 0.005524 0 0 ALS2 57679 broad.mit.edu 37 2 202575791 202575791 + Missense_Mutation SNP T A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr2:202575791T>A uc002uyo.3 - 25 4401 c.4045A>T c.(4045-4047)Agt>Tgt p.S1349C ALS2_uc010ftl.3_Non-coding_Transcript NM_020919 NP_065970 Q96Q42 ALS2_HUMAN Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA. 1349 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 AATTCCAAACTCTCTAGTGTC 0.348000 38 27 0 0 0.009535 0 0 TUBB2A 7280 broad.mit.edu 37 6 3155151 3155151 + Missense_Mutation SNP C T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr6:3155151C>T uc003mvc.3 - 3 370 c.284G>A c.(283-285)aGt>aAt p.S95N TUBB2A_uc003mvb.3_Missense_Mutation_p.S88N NM_001069 NP_001060 Q13885 TBB2A_HUMAN Homo sapiens tubulin, beta 2A class IIa (TUBB2A), mRNA. 95 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity endometrium(2)|large_intestine(4)|lung(2)|skin(1) 9 Ovarian(93;0.0386) all_hematologic(90;0.0895) CCCGGCTCCACTCTGGCCTGC 0.512000 15 3 0 0 0.001855 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133667504 133667504 + Silent SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr3:133667504G>A uc003eqa.4 - 7 1255 c.981C>T c.(979-981)ctC>ctT p.L327L SLCO2A1_uc011blv.2_Silent_p.L146L NM_005630 NP_005621 Q92959 SO2A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA. 327 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 CCAGGACGAAGAGTGAGTTCA 0.577000 70 61 0 0 0.014410 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29938181 29938181 + Nonsense_Mutation SNP C T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chrX:29938181C>T uc004dby.2 + 7 1535 c.1027C>T c.(1027-1029)Cga>Tga p.R343* NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA. 343 Ig-like C2-type 3. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity p.R342P(2)|p.R343Q(1)|p.R343L(1) biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 AAATGGACGTCGACACGCCAG 0.433000 1 36 0 0 0.008740 0 0 MAEL 84944 broad.mit.edu 37 1 166990932 166990932 + Missense_Mutation SNP C T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr1:166990932C>T uc001gdy.1 + 11 1216 c.1145C>T c.(1144-1146)tCt>tTt p.S382F MAEL_uc021peh.1_Missense_Mutation_p.S326F|MAEL_uc001gdz.1_Missense_Mutation_p.S351F|MAEL_uc009wvf.1_Non-coding_Transcript NM_032858 NP_116247 Q96JY0 MAEL_HUMAN Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA. 382 DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 GCAAAAATTTCTGGCCAAAAC 0.373000 64 19 0 0 0.002780 0 0 IKBKE 9641 broad.mit.edu 37 1 206658624 206658624 + Nonsense_Mutation SNP C T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr1:206658624C>T uc001hdz.2 + 14 2175 c.1597C>T c.(1597-1599)Cag>Tag p.Q533* IKBKE_uc001hea.2_Nonsense_Mutation_p.Q448*|IKBKE_uc009xbv.2_Nonsense_Mutation_p.Q533* NM_014002 NP_001180250 Q14164 IKKE_HUMAN Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA. 533 DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway PML body|cytosol|endosome membrane|plasma membrane ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2) 32 Breast(84;0.137) GAGCCGGGATCAGGTACATGA 0.567000 49 15 0 0 0.006122 0 0 C15orf33 196951 broad.mit.edu 37 15 49869012 49869012 + Missense_Mutation SNP C T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr15:49869012C>T uc001zxl.2 - 6 766 c.472G>A c.(472-474)Gaa>Aaa p.E158K C15orf33_uc001zxm.3_Missense_Mutation_p.E158K NM_152647 NP_689860 Q96M60 CO033_HUMAN Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA. 158 endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 25 all_lung(180;0.00187) all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124) TGAGTAAGTTCATTTGCTTTG 0.303000 17 13 0 0 0.002450 0 0 PREP 5550 broad.mit.edu 37 6 105729674 105729674 + Nonsense_Mutation SNP C T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr6:105729674C>T uc003prc.3 - 13 2018 c.1785G>A c.(1783-1785)tgG>tgA p.W595* NM_002726 NP_002717 P48147 PPCE_HUMAN Homo sapiens prolyl endopeptidase (PREP), mRNA. 595 proteolysis serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) AATCAGTGGTCCAAGCATGGC 0.398000 44 44 0 0 0.014410 0 0 PDC 5132 broad.mit.edu 37 1 186413385 186413385 + Missense_Mutation SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr1:186413385G>A uc001gsa.3 - 3 540 c.467C>T c.(466-468)aCa>aTa p.T156I MIR548F1_uc021pgf.1_Intron|PDC_uc001grz.3_Missense_Mutation_p.T104I NM_002597 NP_072098 P20941 PHOS_HUMAN Homo sapiens phosducin (PDC), transcript variant 1, mRNA. 156 G-protein coupled receptor protein signaling pathway|phototransduction|visual perception actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment phospholipase inhibitor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1) 7 Breast(1374;1.53e-05) KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129) TGCAAGGCATGTTAAACTACT 0.373000 70 29 0 0 0.004289 0 0 C10orf129 142827 broad.mit.edu 37 10 96967012 96967012 + Missense_Mutation SNP C T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr10:96967012C>T uc001kke.3 + 3 576 c.451C>T c.(451-453)Cgc>Tgc p.R151C C10orf129_uc009xuu.1_Missense_Mutation_p.R61C NM_207321 NP_997204 Q6P461 ACSM6_HUMAN Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA. 151 fatty acid metabolic process mitochondrion ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) CAAGAAAATTCGCTATCAATT 0.458000 5 35 0 0 0.006999 0 0 XRCC1 7515 broad.mit.edu 37 19 44048353 44048353 + Missense_Mutation SNP C T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr19:44048353C>T uc002owt.2 - 14 1775 c.1655G>A c.(1654-1656)gGg>gAg p.G552E XRCC1_uc010xwp.1_Missense_Mutation_p.G521E NM_006297 NP_006288 P18887 XRCC1_HUMAN Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA. 552 BRCT 2. base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Prostate(69;0.0153) AGGGAACTCCCCGTAAAGAAA 0.577000 Other BER factors 10 6 0 0 0.004482 0 0 ALG9 79796 broad.mit.edu 37 11 111708291 111708291 + Missense_Mutation SNP T G G TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr11:111708291T>G uc010rwn.2 - 10 1312 c.1213A>C c.(1213-1215)Aca>Cca p.T405P ALG9_uc001ply.3_Missense_Mutation_p.T280P|ALG9_uc001plz.3_Missense_Mutation_p.T287P|ALG9_uc021qql.1_Missense_Mutation_p.T280P|ALG9_uc021qqm.1_Missense_Mutation_p.T287P|ALG9_uc010rwo.2_Missense_Mutation_p.T279P|ALG9_uc009yyh.1_Missense_Mutation_p.T346P NM_001077692 NP_001071160 Q9H6U8 ALG9_HUMAN Homo sapiens asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae) (ALG9), transcript variant 4, mRNA. 451 GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587) GTTGGGTCTGTAGCAATTCGG 0.473000 12 21 0 0 0.005443 0 0 ZNF649 65251 broad.mit.edu 37 19 52394736 52394736 + Missense_Mutation SNP T C C TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr19:52394736T>C uc002pxy.3 - 4 979 c.653A>G c.(652-654)aAg>aGg p.K218R ZNF577_uc010ydf.1_5'Flank NM_023074 NP_075562 Q9BS31 ZN649_HUMAN Homo sapiens zinc finger protein 649 (ZNF649), mRNA. 218 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) GAGCCTGTACTTCTTGTAGAA 0.483000 86 4 0 0 0.001984 0 0 LRP2 4036 broad.mit.edu 37 2 170033017 170033017 + Missense_Mutation SNP T C C TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr2:170033017T>C uc002ues.3 - 53 10688 c.10475A>G c.(10474-10476)gAg>gGg p.E3492G NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 3492 EGF-like 13. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity 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) ATCTGGACACTCGCAAGTGAA 0.512000 36 34 0 0 0.004289 0 0 ZNF649 65251 broad.mit.edu 37 19 52394703 52394703 + Missense_Mutation SNP C T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr19:52394703C>T uc002pxy.3 - 4 1012 c.686G>A c.(685-687)aGa>aAa p.R229K ZNF577_uc010ydf.1_5'Flank NM_023074 NP_075562 Q9BS31 ZN649_HUMAN Homo sapiens zinc finger protein 649 (ZNF649), mRNA. 229 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) TTTCTCTCCTCTGTGAGCTCT 0.488000 115 3 0 0 0.000602 0 0 CDK6 1021 broad.mit.edu 37 7 92300791 92300791 + Missense_Mutation SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr7:92300791G>A uc011khw.2 - 4 1008 c.596C>T c.(595-597)cCc>cTc p.P199L CDK6_uc010lez.3_Missense_Mutation_p.P199L NM_001259 NP_001250 Q00534 CDK6_HUMAN Homo sapiens cyclin-dependent kinase 6 (CDK6), transcript variant 1, mRNA. 199 Protein kinase. P -> L (in a metastatic melanoma sample; somatic mutation). G1 phase of mitotic cell cycle|cell dedifferentiation|cell division|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle ATP binding|cyclin binding|cyclin-dependent protein kinase activity p.P199L(2) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1) 11 all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) GAGATCCACGGGGGTGGCGTA 0.488000 T MLLT10 ALL 108 29 0 0 0.004289 0 0 CECR1 51816 broad.mit.edu 37 22 17690464 17690464 + Missense_Mutation SNP G A A rs151283756 TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr22:17690464G>A uc002zmk.1 - 0 316 c.104C>T c.(103-105)gCg>gTg p.A35V CECR1_uc010gqu.1_Missense_Mutation_p.A35V|CECR1_uc011agi.1_5'UTR|CECR1_uc011agj.1_5'UTR NM_017424 NP_059120 Q9NZK5 CECR1_HUMAN Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA. 35 Dimerization. adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process Golgi apparatus|extracellular space adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding p.A35V(4) endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) CAACAGATGCGCCCGTGTTTC 0.552000 31 59 0 0 0.014410 0 0 BOLL 66037 broad.mit.edu 37 2 198593229 198593229 + Missense_Mutation SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr2:198593229G>A uc002uuu.1 - 11 1361 c.982C>T c.(982-984)Cct>Tct p.P328S BC021693_uc002uup.3_Intron|BOLL_uc002uur.2_3'UTR|BOLL_uc002uus.2_3'UTR|BOLL_uc002uut.2_3'UTR|BOLL_uc010zha.1_3'UTR NM_033030 NP_149019 Q8N9W6 BOLL_HUMAN Homo sapiens bol, boule-like (Drosophila) (BOLL), transcript variant 2, mRNA. 0 cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm RNA binding|nucleotide binding|protein binding|translation activator activity central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1) 13 GCCACGCAAGGATCATTGGAC 0.413000 34 28 0 0 0.007291 0 0 MUC4 4585 broad.mit.edu 37 3 195505838 195505838 + Missense_Mutation SNP G C C rs59101491 TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr3:195505838G>C uc021xjp.1 - 1 12769 c.12613C>G c.(12613-12615)Cac>Gac p.H4205D MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA. 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205D(2) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GGGGTGGCGTGACCTGTGGAT 0.597000 4 3 0 0 0.004672 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140166400 140166400 + Silent SNP T C C TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr5:140166400T>C uc003lhb.2 + 0 525 c.525T>C c.(523-525)agT>agC p.S175S PCDHAC2_uc003lha.2_Silent_p.S175S|PCDHAC2_uc003lgz.3_Silent_p.S175S NM_018900 NP_061723 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA. 190 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGCCCGAGTGATTATTTCT 0.423000 67 12 0 0 0.013537 0 0 CCDC170 80129 broad.mit.edu 37 6 151914298 151914298 + Silent SNP C T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr6:151914298C>T uc003qol.3 + 7 1439 c.1350C>T c.(1348-1350)gcC>gcT p.A450A NM_025059 NP_079335 Q8IYT3 CF097_HUMAN Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA. 450 AGATGGCTGCCGAACTTGGCT 0.448000 48 33 0 0 0.006230 0 0 RFX6 222546 broad.mit.edu 37 6 117243237 117243237 + Missense_Mutation SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr6:117243237G>A uc003pxm.3 + 12 1423 c.1360G>A c.(1360-1362)Gat>Aat p.D454N NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN Homo sapiens regulatory factor X, 6 (RFX6), mRNA. 454 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 AGAACTGAAGGATCTCCTTAA 0.353000 38 22 0 0 0.006320 0 0 ANKRD24 170961 broad.mit.edu 37 19 4222681 4222681 + Silent SNP C T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr19:4222681C>T uc010dtt.1 + 19 3462 c.3186C>T c.(3184-3186)tcC>tcT p.S1062S NM_133475 NP_597732 Q8TF21 ANR24_HUMAN Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA. 1062 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) CAGAACTCTCCAAAGAAGTCT 0.602000 16 3 0 0 0.009096 0 0 KCNK9 51305 broad.mit.edu 37 8 140630645 140630645 + Silent SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr8:140630645G>A uc003yvf.1 - 1 1045 c.981C>T c.(979-981)ttC>ttT p.F327F KCNK9_uc003yvg.1_Silent_p.F327F|KCNK9_uc003yve.1_Non-coding_Transcript NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA. 327 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity p.F327F(2) NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) AGATGGAGTGGAAGTAGTGGG 0.557000 100 49 0 0 0.014410 0 0 MYT1 4661 broad.mit.edu 37 20 62839564 62839564 + Nonsense_Mutation SNP G T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr20:62839564G>T uc002yii.3 + 6 1379 c.1015G>T c.(1015-1017)Gag>Tag p.E339* MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR NM_004535 NP_004526 Q01538 MYT1_HUMAN Homo sapiens myelin transcription factor 1 (MYT1), mRNA. 339 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P338S(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) TCCCAAGCCTGAGTACTCTGT 0.577000 97 68 4.81439e-37 5.58032e-37 0.014410 1 0 OR13C2 392376 broad.mit.edu 37 9 107367080 107367080 + Missense_Mutation SNP C T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr9:107367080C>T uc011lvq.2 - 0 829 c.829G>A c.(829-831)Gac>Aac p.D277N NM_001004481 NP_001004481 Q8NGS9 O13C2_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA. 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T276I(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 ATAATTTTGTCGGTAGCATCC 0.403000 66 34 0 0 0.004289 0 0 MLL5 55904 broad.mit.edu 37 7 104722214 104722214 + Missense_Mutation SNP C T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr7:104722214C>T uc003vcm.3 + 12 1862 c.1328C>T c.(1327-1329)aCt>aTt p.T443I MLL5_uc010lja.1_Missense_Mutation_p.T297I|MLL5_uc010ljb.1_Missense_Mutation_p.T443I|MLL5_uc003vcl.3_Missense_Mutation_p.T443I|MLL5_uc010ljc.3_Missense_Mutation_p.T443I|MLL5_uc003vco.1_Non-coding_Transcript|MLL5_uc010ljd.1_Missense_Mutation_p.T81I NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA. 443 SET. DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 63 ACTGAAATTACTATTGCCTTT 0.294000 150 4 0 0 0.000602 0 0 OR8H2 390151 broad.mit.edu 37 11 55872882 55872882 + Missense_Mutation SNP C T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr11:55872882C>T uc010riy.2 + 0 364 c.364C>T c.(364-366)Cgc>Tgc p.R122C NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA. 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R122C(2)|p.R122R(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) GGCCCATGATCGCTATGCAGC 0.458000 HNSCC(53;0.14) 65 102 0 0 0.014410 0 0 FMO1 2326 broad.mit.edu 37 1 171244557 171244557 + Missense_Mutation SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr1:171244557G>A uc009wvz.3 + 3 530 c.394G>A c.(394-396)Gaa>Aaa p.E132K FMO1_uc010pme.2_Missense_Mutation_p.E69K|FMO1_uc001ghl.3_Missense_Mutation_p.E132K|FMO1_uc001ghm.3_Missense_Mutation_p.E132K NM_002021 NP_002012 Q01740 FMO1_HUMAN Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA. 132 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CACTATGCATGAAGAGAAGCA 0.433000 118 54 0 0 0.014410 0 0 CCND2 894 broad.mit.edu 37 12 4385346 4385346 + Missense_Mutation SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr12:4385346G>A uc001qmo.3 + 1 676 c.371G>A c.(370-372)tGc>tAc p.C124Y NM_001759 NP_001750 P30279 CCND2_HUMAN Homo sapiens cyclin D2 (CCND2), mRNA. 124 Cyclin N-terminal. cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 17 all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206) GAGAAGCTGTGCATTTACACC 0.582000 T IGL@ """NHL,CLL""" 25 9 0 0 0.013537 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64484041 64484041 + Silent SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr5:64484041G>A uc003jtp.3 - 21 3526 c.2712C>T c.(2710-2712)ttC>ttT p.F904F ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA. 904 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) AATCCCCAATGAACCACCTGC 0.498000 74 63 0 0 0.014410 0 0 ALDH4A1 8659 broad.mit.edu 37 1 19204081 19204081 + Silent SNP G A A rs150927009 TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr1:19204081G>A uc001bbb.3 - 9 1242 c.966C>T c.(964-966)ttC>ttT p.F322F ALDH4A1_uc010ocu.2_Silent_p.F262F|ALDH4A1_uc001bbc.3_Silent_p.F322F|ALDH4A1_uc021ohl.1_Silent_p.F322F NM_170726 NP_001154976 P30038 AL4A1_HUMAN Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA. 322 proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity p.F322F(6) cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) AGCGGTGCACGAAGTGGAAGT 0.657000 34 17 0 0 0.012319 0 0 TFEC 22797 broad.mit.edu 37 7 115580613 115580613 + Missense_Mutation SNP C T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr7:115580613C>T uc003vhj.2 - 7 1289 c.1036G>A c.(1036-1038)Gaa>Aaa p.E346K TFEC_uc003vhm.2_Missense_Mutation_p.E279K|TFEC_uc003vhk.2_Missense_Mutation_p.E317K|TFEC_uc003vhl.4_3'UTR|TFEC_uc011kmw.2_3'UTR NM_012252 NP_036384 O14948 TFEC_HUMAN Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA. 346 Necessary for transcriptional transactivation. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(10;0.00878) TCTTATAATTCATCACCATCA 0.398000 69 19 0 0 0.010504 0 0 STAT3 6774 broad.mit.edu 37 17 40481782 40481782 + Silent SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr17:40481782G>A uc002hzl.1 - 11 1362 c.1122C>T c.(1120-1122)gaC>gaT p.D374D STAT3_uc002hzk.1_Silent_p.D374D|STAT3_uc002hzm.1_Silent_p.D374D|STAT3_uc010wgh.1_Silent_p.D276D|STAT3_uc002hzn.1_Silent_p.D374D NM_139276 NP_644805 P40763 STAT3_HUMAN Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA. 374 JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) GAGCTGCAACGTCCCCAGAGT 0.428000 Hyperimmunoglobulin E Recurrent Infection Syndrome 21 21 0 0 0.003954 0 0 LOC729020 729020 broad.mit.edu 37 10 105005757 105005757 + Missense_Mutation SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr10:105005757G>A uc009xxi.2 + 0 114 c.4G>A c.(4-6)Gcg>Acg p.A2T BC040734_uc001kwr.3_Intron NM_001143909 NP_001137381 Q2QD12 Q2QD12_HUMAN Homo sapiens rcRPE (LOC729020), mRNA. 2 carbohydrate metabolic process ribulose-phosphate 3-epimerase activity CAGCGGTATGGCGTCGGGCTG 0.527000 8 14 0 0 0.007413 0 0 KRTAP4-12 83755 broad.mit.edu 37 17 39280087 39280087 + Silent SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr17:39280087G>A uc002hwa.3 - 0 333 c.288C>T c.(286-288)tgC>tgT p.C96C NM_031854 NP_114060 Q9BQ66 KR412_HUMAN Homo sapiens keratin associated protein 4-12 (KRTAP4-12), mRNA. 96 31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC]. keratin filament p.C96C(4) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGGTGGGCTGGCAGCACACAG 0.667000 162 5 0 0 0.001168 0 0 FAT4 79633 broad.mit.edu 37 4 126238008 126238008 + Missense_Mutation SNP A T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr4:126238008A>T uc003ifj.4 + 0 442 c.442A>T c.(442-444)Agt>Tgt p.S148C NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 148 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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 CAAGGAAGACAGTAGCAGCGG 0.607000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 16 0 0 0.007413 0 0 ABCD3 5825 broad.mit.edu 37 1 94933537 94933537 + Missense_Mutation SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr1:94933537G>A uc010oto.2 + 4 483 c.381G>A c.(379-381)atG>atA p.M127I ABCD3_uc001dqm.4_Missense_Mutation_p.M103I|ABCD3_uc001dqn.4_Missense_Mutation_p.M103I|ABCD3_uc010otp.2_Missense_Mutation_p.M30I|ABCD3_uc009wdr.3_Missense_Mutation_p.M103I NM_002858 NP_002849 P28288 ABCD3_HUMAN Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA. 103 ABC transmembrane type-1.|Interaction with PEX19. peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) ATGTTTGGATGATTCAAAATG 0.308000 39 26 0 0 0.009535 0 0 DPYD 1806 broad.mit.edu 37 1 98187190 98187190 + Missense_Mutation SNP T C C TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr1:98187190T>C uc001drv.3 - 4 496 c.359A>G c.(358-360)aAc>aGc p.N120S DPYD_uc010oub.1_Non-coding_Transcript|DPYD_uc001drw.3_Missense_Mutation_p.N120S NM_000110 NP_000101 Q12882 DPYD_HUMAN Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA. 120 'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) ACCAAGTGGGTTGTCAGAAAA 0.338000 66 46 0 0 0.014410 0 0 FCGBP 8857 broad.mit.edu 37 19 40434213 40434213 + Splice_Site SNP C T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr19:40434213C>T uc002omp.4 - 2 64 c.56_splice c.e2-1 p.G19_splice NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 19 extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CTGGGTCAATCCTGGTTGAGA 0.502000 19 21 0 0 0.014323 0 0 FCHO1 23149 broad.mit.edu 37 19 17885062 17885062 + Missense_Mutation SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr19:17885062G>A uc002nhg.3 + 11 1084 c.805G>A c.(805-807)Gag>Aag p.E269K FCHO1_uc010ebb.2_Missense_Mutation_p.E269K|FCHO1_uc002nhh.2_Missense_Mutation_p.E269K|FCHO1_uc010xpw.1_Missense_Mutation_p.E219K|FCHO1_uc010ebc.1_Missense_Mutation_p.E276K NM_001161357 NP_001154829 O14526 FCHO1_HUMAN Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA. 269 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 TCTGGACTTCGAGGCATACAG 0.607000 35 15 0 0 0.006122 0 0 FAM83E 54854 broad.mit.edu 37 19 49104408 49104408 + Silent SNP C T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr19:49104408C>T uc002pjn.2 - 4 1460 c.1395G>A c.(1393-1395)ccG>ccA p.P465P NM_017708 NP_060178 Q2M2I3 FA83E_HUMAN Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA. 465 NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) CCCAGTCTGACGGCCTGACGC 0.667000 23 27 0 0 0.007291 0 0 ZNF57 126295 broad.mit.edu 37 19 2917733 2917733 + Missense_Mutation SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr19:2917733G>A uc002lwr.3 + 3 1262 c.1114G>A c.(1114-1116)Gcc>Acc p.A372T ZNF57_uc010xha.2_Missense_Mutation_p.A340T NM_173480 NP_775751 Q68EA5 ZNF57_HUMAN Homo sapiens zinc finger protein 57 (ZNF57), mRNA. 372 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) ATGTGGGAAAGCCTTCACTTG 0.443000 61 3 0 0 0.009096 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 65 74 0 0 0.014410 0 0 HR 55806 broad.mit.edu 37 8 21984959 21984959 + Silent SNP G T T TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr8:21984959G>T uc003xas.3 - 2 1661 c.996C>A c.(994-996)ccC>ccA p.P332P HR_uc003xat.3_Silent_p.P332P NM_005144 NP_005135 O43593 HAIR_HUMAN Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA. 332 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CACCTTTAGTGGGTGGGTAGG 0.647000 17 34 1.57351e-24 1.80335e-24 0.003755 1 0 SNED1 25992 broad.mit.edu 37 2 242011284 242011284 + Missense_Mutation SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr2:242011284G>A uc002wah.1 + 25 3808 c.3808G>A c.(3808-3810)Gtg>Atg p.V1270M SNED1_uc002wai.1_Missense_Mutation_p.V505M|SNED1_uc002waj.1_Missense_Mutation_p.V357M|SNED1_uc002wak.3_Missense_Mutation_p.V357M|SNED1_uc002wal.3_Missense_Mutation_p.V97M NM_001080437 NP_001073906 Q8TER0 SNED1_HUMAN Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA. 1270 cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) AGCAGCCACCGTGAGATCACG 0.642000 8 7 0 0 0.004482 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101592950 101592950 + Silent SNP G A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr5:101592950G>A uc003knm.3 - 7 1625 c.1338C>T c.(1336-1338)ttC>ttT p.F446F NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA. 446 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) ATGTCATTCTGAATTTTGAAA 0.368000 17 27 0 0 0.007291 0 0 TBC1D5 9779 broad.mit.edu 37 3 17300025 17300025 + Missense_Mutation SNP C A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr3:17300025C>A uc010hev.3 - 16 1568 c.1304G>T c.(1303-1305)cGa>cTa p.R435L TBC1D5_uc010heu.3_Missense_Mutation_p.R22L|TBC1D5_uc003cbf.3_Missense_Mutation_p.R435L|TBC1D5_uc003cbe.3_Missense_Mutation_p.R435L|TBC1D5_uc010hew.1_Missense_Mutation_p.R387L NM_001134381 NP_001127853 Q92609 TBCD5_HUMAN Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA. 435 intracellular Rab GTPase activator activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 36 GTCTGCTCCTCGTGCTTTGTA 0.313000 155 4 0.00198382 0.00219945 0.001984 1 0 VAMP3 9341 broad.mit.edu 37 1 7838212 7838214 + In_Frame_Del DEL TCA - - TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr1:7838212_7838214delTCA uc001aol.3 + 3 381_383 c.266_268delTCA c.(265-270)ttcatc>ttc p.I94del NM_004781 NP_004772 Q15836 VAMP3_HUMAN Homo sapiens vesicle-associated membrane protein 3 (cellubrevin) (VAMP3), mRNA. 94 cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CTGGTTATCTTCATCATCATCAT 0.365 --- 500 --- --- 9 --- AFF4 27125 broad.mit.edu 37 5 132224853 132224853 + Frame_Shift_Del DEL T - - TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr5:132224853delT uc003kyd.3 - 13 3058 c.2650delA c.(2650-2652)agtfs p.S884fs AFF4_uc011cxk.2_Frame_Shift_Del_p.S562fs NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA. 884 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GAGGAGCTACTTGGAGCCTTT 0.373 --- 86 --- --- 30 --- NUP188 23511 broad.mit.edu 37 9 131730827 131730828 + Frame_Shift_Ins INS - A A TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr9:131730827_131730828insA uc004bws.1 + 8 650_651 c.628_629insA c.(628-630)gaafs p.E210fs NM_015354 NP_056169 Q5SRE5 NU188_HUMAN Homo sapiens nucleoporin 188kDa (NUP188), mRNA. 210 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 GTGCCTTCGGGAACAGTCCATG 0.391 --- 63 --- --- 35 --- MAP3K9 4293 broad.mit.edu 37 14 71275762 71275764 + In_Frame_Del DEL CCG - - rs66483442 TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr14:71275762_71275764delCCG uc001xmm.3 - 0 125_127 c.125_127delCGG c.(124-129)gcggtg>gtg p.A42del MAP3K9_uc001xml.3_In_Frame_Del_p.A42del NM_033141 NP_149132 P80192 M3K9_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA. 42 Ala-rich. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CCGGGGCCCACCGCCGCCGCCGc 0.788 --- 6 --- --- 3 --- CD276 80381 broad.mit.edu 37 15 73994688 73994696 + In_Frame_Del DEL TTCAGCCTG - - TCGA-D3-A3MO-06A-11D-A21A-08 TCGA-D3-A3MO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx affa4ef4-02ec-40f1-b6a2-739f8bf2afa9 46ee8ba7-ef58-4b4c-913c-9507e7a9d7e2 g.chr15:73994688_73994696delTTCAGCCTG uc002avv.1 + 2 406_414 c.172_180delTTCAGCCTG c.(172-180)ttcagcctgdel p.FSL58del CD276_uc010bjd.1_5'UTR|CD276_uc002avu.1_In_Frame_Del_p.FSL58del|CD276_uc002avw.1_In_Frame_Del_p.FSL58del|CD276_uc010ulb.1_Intron NM_001024736 NP_001019907 Q5ZPR3 CD276_HUMAN Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA. 58 Ig-like V-type 1. T cell activation|cell proliferation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|regulation of immune response external side of plasma membrane|integral to membrane receptor binding endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 13 TGAGCCTGGCTTCAGCCTGGCACAGCTCA 0.641 --- 27 --- --- 19 ---